Condition management

Occupational therapy provides practical support to empower people to facilitate recovery and overcome barriers preventing them from doing the activities (or occupations) that matter to them. This support increases people’s independence and satisfaction in all aspects of life.

“Occupation” as a term refers to practical and purposeful activities that allow people to live independently. This could be essential day-to-day tasks such as self-care, work or leisure.

Occupational therapists work with adults and children of all ages with a wide range of conditions; most commonly those who have difficulties due to a mental health illness, physical or learning disabilities. They can work in a variety of settings including health organisations, social care services, housing, education, voluntary organisations or as independent practitioners.

Occupational therapists play a critical role in helping people of all ages overcome the effects of disability caused by illness, ageing or accident so that they can carry out everyday tasks or occupations. They also help with adaptations needed within the home.

We are aware that it can be difficult to obtain life insurance when you have been given a diagnosis of leukodystrophy, Genetic Alliance have some helpful information (add link)

here is a link to the information GA carry online relating to insurance.

https://geneticalliance.org.uk/information/living-with-a-genetic-condition/

We don’t recommend particular companies or brokers per se and it can be a matter of shopping around until you find a product that meets your needs. Please google “high risk” specialist companies

They can happen to anyone, but usually affect people confined to bed or who sit in a chair or wheelchair for long periods of time.
Pressure ulcers can affect any part of the body that’s put under pressure. They’re most common on bony parts of the body, such as the heels, elbows, hips and base of the spine.

They often develop gradually but can sometimes form in a few hours.

Early symptoms of a pressure ulcer include:
• part of the skin becoming discoloured – people with pale skin tend to get red patches, while people with dark skin tend to get purple or blue patches
• discoloured patches not turning white when pressed
• a patch of skin that feels warm, spongy or hard
• pain or itchiness in the affected area

Later symptoms
The skin may not be broken at first, but if the pressure ulcer gets worse, it can form:
• an open wound or blister – a category two pressure ulcer
• a deep wound that reaches the deeper layers of the skin – a category three pressure ulcer
• a very deep wound that may reach the muscle and bone – a category four pressure ulcer

Preventing pressure ulcers
It can be difficult to completely prevent pressure ulcers, but there are some things you or your care team can do to reduce the risk.
These include:
• regularly changing your position – if you’re unable to change position yourself, a relative or carer will need to help you
• checking your skin every day for early signs and symptoms of pressure ulcers – this will be done by your care team if you’re in a hospital or care home
• having a healthy, balanced diet that contains enough protein and a good variety of vitamins and minerals – if you’re concerned about your diet or caring for someone whose diet may be poor, ask your GP or healthcare team for a referral to a dietitian
• Always seek advice if you are concerned that a pressure ulcer may be developing getting treatment quickly is of utmost importance.

The Wheelchair Service provides wheelchair equipment, assessments and support for children and adults who need to use a wheelchair long-term (normally six months or more) due to a disability, terminal illness or severely limiting medical condition.

They provide the following types of wheelchairs and equipment:

• Manual wheelchairs (options for self-propelled or those pushed by an attendant)
• Powered indoor wheelchairs
• Powered indoor and outdoor wheelchairs
• Specialist buggies, wheelchairs and seating for children
• Specialist bespoke seating systems for use with a wheelchair
• Pressure relieving cushions and some accessories for wheelchairs

The charity Whizz-kidz can provide a range of mobility equipment to children and young people with a physical disability to give them independence at home, at school and at play.

The NHS should always be a family’s first port of call for mobility equipment. However, if your local NHS Wheelchair Service does not provide equipment to meet the essential mobility needs of your child then we may able to help.

Through the Motability scheme you can lease power wheelchairs and scooters using the mobility part of your Personal Independence Payment (PIP)  or Disability Living Allowance (DLA)

Local support groups for those with vision impairment can help to reduce isolation caused by loss of vision. You can search for local visual impairment and information services in the UK through the NHS.

The Royal National Institute for the Blind (RNIB) provides practical support to help those with vision impairment to maintain independence, whether this is in employment – see also our section on Work – or with everyday tasks such as shopping, reading, travelling and leisure activities.

This can be a very difficult and scary time for families, as relationships and trust you have built up with doctors and children’s services will change. We provide advice, information and support through the transition from child to adult services.

Transitioning from children’s services to adult should start around the age of 14 and all professionals involved with the care and support of the young person should start thinking about how to smoothly transition. In healthcare this transitioning normally takes place at the age of 16, however some doctors will continue to see the young person until they are 18, this should be checked with the individual doctors and hospitals.

For those still in education the transition to adult care services is at the age of 18. Most County Councils have a team who support transitions and is included within the 0-25 framework, this is to provide continuity between children’s and adult services.

You can find out more about transitions from the National Institute for Health and Care Excellence (NICE) who have produced a guideline detailing how transitions should work.

Children who are not affected by the condition may also need support to cope with the changes to family life brought about by their family member’s leukodystrophy.  Children without the condition may feel upset and scared at what is happening and what may happen. The additional caring responsibilities faced by their parents may leave the child feeling left out and can cause jealousy. Alex TLC can provide support to help unaffected children, including directing families to specialist support to give a sense of normality to these children’s lives, including hospice support groups and connecting children in similar situations through our peer support network.

These children and young people may take on more caring responsibilities, either for younger children while parents care for an affected family member, or for the affected family member themselves. While they may seem willing and able to provide invaluable help in this way, it is important to make sure young carers are properly supported. Local young carers’ organisations can help with this, and you can talk to Alex TLC about how to make things easier for the whole family.

As these conditions are genetic, diagnosis of one member of the family will lead others to be tested for the condition – a genetic counsellor can organise this if it has not yet happened. Those who discover they also have the condition, particularly young children, may find it difficult to cope with the fear that they will face the same deterioration as their family member. For most of these conditions, there is no treatment even at this early stage. See our preventative treatment page for further information. Alex TLC can provide support and advice to help those who have been diagnosed before symptoms begin, see Contact Us.

SPEECH AND LANGUAGE THERAPY
Speech and language therapists, sometimes referred to as SALT, help with both communication and feeding difficulties.

An inability to communicate verbally is incredibly debilitating for children and adults who have already developed these skills as well as for those who have never acquired these skills. A Speech and Language Therapist can help with this, through training and techniques to make communication easier. They can help with simple sign language and objects of reference and appropriate communication aids.
Speech and language therapist also help with any feeding difficulties, including suggestions for making food and drink easier to swallow, this may be through thickening drinks, mashing or pureeing foods. They are also responsible for observing and referring for tests if the person is having difficulty swallowing (dysphagia). You may then be referred to a dietician.

If swallowing becomes very difficult or there is a risk of aspiration then it will be recommended that Enteral feeding is considered. Enteral feeding is the delivery of a nutritionally complete feed, containing protein, carbohydrate, fat, water, minerals and vitamins, directly into the stomach, duodenum or jejunum via a nasogastric tube (NG) or a gastrostomy. Your child can still eat and drink normally if they are able and it is safe for them to do so. Sometimes the feeding tubes are just used to ‘top up’ if the child hasn’t eaten or drunk very much, they are also very useful for administering medications.

WHAT IS A NASOGRASTRIC TUBE?
A Naso-gastric (NG) tube is a thin, plastic tube that is inserted into one nostril, down the back of the throat and into the stomach. A nurse will insert the NG tube. Once the tube has been passed to the required length it will be secured to the face with some adhesive tape. Inserting the tube does not hurt, but it may be uncomfortable for a short while for children it can cause distress but is a very quick procedure. It may also make you sneeze, cough or retch as it tickles your throat. This soon passes.

WHAT ARE THE ADVANTAGES & DISADVANTAGES OF AN NG TUBE?
Advantages
• Provides a safe method of feeding
• Can be removed when not in use
• No anaesthetic is needed for insertion
• Child may feel more comfortable because their stomach is filled as with normal feeding

Disadvantages
• Can appear unsightly
• Insertion can sometimes cause distress although this soon resolves once the tube is in place.
• Can be dangerous if inserted into the airway instead of the food pipe.
Can increase the secretions in the nostril especially when first passed or if you have a cold

HOW TO CHECK THE POSITION OF THE NASOGASTRIC TUBE
It is important to check that the NG tube is in the correct place, (the stomach). The food pipe and the airway separate from each other below the voice box and there is a small risk that the NG tube could end up in the airway instead of the stomach. If your nurse is at all concerned that the tube is not in the correct place the tube will be removed immediately and replaced. Checking the position of the tube should occur on insertion as well as every time it is used. It is also important to check the tube position after periods of vomiting or a coughing episode as the tube can change its position. The contents of your child / baby’s stomach are normally acidic. The most reliable way of checking that the tube is in the stomach is by checking the acid level of some of the fluid drawn back from the tube. If the tube is in the stomach, the fluid will normally have a pH (acid level) of 4.0 or below.

WHAT IS A GASTROSTOMY?
A gastrostomy is a hole (stoma), from the skin into the stomach. A feeding device is put in the stoma so that the child can have a liquid feed, water or medication straight into the stomach.

The stoma
An operation is needed to make the stoma and to place the feeding device into the stomach. This will be carried out under a general anaesthetic (medicine given to make your child go to sleep).

Feeding devices
There are two types of feeding devices that your child can have:
A gastrostomy tube (PEG): is a long tube that fits in the stoma and is held in the stomach with a soft plastic disc. A PEG can generally stay in place for around 18 months and then will need to be changed.

A gastrostomy button is a feeding device that fits into the stoma. It is held in the stomach by a balloon filled with water. This type of gastrostomy needs to be changed every 3-6 months but doesn’t involve a general anaesthetic when being changed and will be done at home by your specialist nurse.

You will be able to talk to the consultant about which device would be most suitable for your child.

Your child will stay in hospital for two to three days so that they can recover from the operation and start their new feeds. This also gives time for you to learn how to use the gastrostomy.

Using the gastrostomy
When your child is first due a feed, you will be shown how to use the device. There are lots of different liquid feeds available and a dietitian will talk about the type and the amount of feed for your child.

There are two ways that the milk feed can be given:
Bolus feeding
The feed is given at regular times during the day. A syringe is attached to the tube and the feed is poured into it and allowed to flow by gravity down the tube, through the gastrostomy and into the stomach.

Continuous feeding
The feed is given using an electric pump. This allows the right amount of feed to slowly flow into the stomach over a set time. The method used will depend on many factors, the most common plan is a combination of both, bolus feeds during the day and a continuous feed overnight.

Medicines
You can also use the gastrostomy to give your child their medicine and you will be shown how to do this by the nursing staff.

Care
You will be shown how to care for your child’s gastrostomy while you are staying on the ward. The condition of the stoma site should be checked regularly, and the skin should be kept clean and dry. This is to stop an infection around the stoma site.

Children’s community nurses
If your child does not already have a children’s community nurse, a referral will be made. They will be able to provide ongoing support for you and your child once you are at home.

Caring for someone with a leukodystrophy can be stressful and can put a strain on other family relationships, even if care support within the home has been arranged. Respite care provides some relief for this, but often comes with feelings of guilt and failure. Arranging respite care does not mean that you cannot or do not want to look after your loved one. This can be important to your mental health as a carer and family member: in order to provide the best possible care and loving home life for your loved one, you need to make sure you are getting the support that you need and are able to look after yourself. It is possible that you will have an allocated number of nights’ respite included in your care package. Alex TLC can help with this, discussing whether respite care will work for you and helping to find appropriate services.

PGT (Pre-implantation genetic testing) is available to couples that are at risk of having a child with a specific genetic or chromosome disorder. It prevents the birth of an affected child by testing an embryo before it is implanted in the uterus (womb).

Briefly, it involves the use of Assisted Reproductive Technology (ART), which in other circumstances is offered to couples with fertility problems. The aim is to obtain and fertilise a number of eggs. Once fertilised, the embryos develop for three days and then one cell is removed from each embryo. The genetic material (DNA or chromosomes) within each cell is then tested for the altered gene or chromosome abnormality. Up to two unaffected embryos are then transferred to the uterus with the hope that they will implant and form a pregnancy. If successful, a pregnancy should be unaffected. PGT is a lengthy and complex process. The stages of PGT treatment are described in a booklet written by  Guys and St Thomas hospital and can be found here.

Leukodystrophies approved for PGT:

Adrenoleukodystrophy;

Aicardi-Goutieres Syndrome;

Alpha-Mannosidosis;

Canavan Disease;

CADASIL;

some types of GM2 gangliosidosis;

Krabbe Disease;

some types of Leighs Disease;

Metachromatic Leukodystrophy;

some types of Oculodentodigital Dysplasia;

Pelizaeus-Merzbacher Disease;

Peroxisome Biogenesis Disorders

This list is subject to change; to check the official list of conditions approved within the UK, go to Human Fertilisation and Embryology Authority.

For further information on how to be referred please visit Guys and St Thomas hospital.

For parents facing difficult decisions around pregnancy, the organisation Antenatal Results and Choices (ARC) provides excellent information and support resources.

Normally based on children’s wards or in children’s hospitals, a play specialist can help with simple medical procedures, blood tests and taking medication. They can explain medical procedures and equipment to children, suggest alternative play ideas for children with disabilities and provide distraction therapy to support children having blood taken.

Many of the conditions covered by Alex TLC will affect mobility in some way. Physiotherapy can help with this, improving physical activity and reducing risk of injury. Your physiotherapist may prescribe an exercise programme which should be followed carefully to maximise its effectiveness. For many, this is an important part of a daily routine to improve mobility and gain or regain motor skills.

Infant physical therapy is specialist physiotherapy treatment for infants affected by conditions such as these, creating individualised development goals to improve balance, muscle control and development milestones.

In the UK, physiotherapy services can be accessed through the NHS but this can mean long waiting lists. It is also possible to seek private treatment. Alex TLC can help with seeking the right treatment, but you should also seek medical advice from your GP or specialist.

Braces, splints and other items such as specialised footwear and insoles can be a great help to those with leukodystrophies which affect movement and mobility. These aids, provided by orthotic services, can reduce pain and make life more manageable. Your GP, physiotherapist or occupational therapist will be able to refer you to the orthotics service.

Alex TLC Support Services can accompany you to meetings with doctors or service providers, or make calls to them, in order to advocate on your behalf. This can help if you are worried that there are things you do not understand or that you are not getting the support you need. Alex TLC Support Services are experienced in providing this free support, with a strong understanding of services available and a personal approach to understanding your needs. See our How we Support You page for more information.

When you or a family member is diagnosed with a serious illness it is important to look after yours and members of your family’s mental health. It is a very stressful and emotional time, so please seek help.

Your GP can refer you to your local Mental Health team for individual counselling and support. It is important to get help if you feel you need it.

Find out more about NHS mental health services.

Alex TLC can help you individually or put you in contact with others for peer support. If you need help coping with a leukodystrophy diagnosis, get in touch now.

Play Therapy helps children understand muddled feelings and upsetting events that they haven’t had the chance to sort out properly. Rather than having to explain what is troubling them, as adult therapy usually expects, children use play to communicate at their own level and at their own pace, without feeling interrogated or threatened, tis can be especially helpful when the child has a deteriorating condition and communication may have become difficult.

Play is vital to every child’s social, emotional, cognitive, physical, creative and language development. It helps make learning concrete for all children and young people including those for whom verbal communication may be difficult.

Play Therapy helps children in a variety of ways. Children receive emotional support and can learn to understand more about their own feelings and thoughts. Sometimes they may re-enact or play out traumatic or difficult life experiences in order to make sense of their past and cope better with their future. Children may also learn to manage relationships and conflicts in more appropriate ways.

The outcomes of Play Therapy may be general e.g. a reduction in anxiety and raised self-esteem, or more specific such as a change in behaviour and improved relations with family and friends.

Find out more from the British Association of Play Therapists.

CAMHS is used as a term for all services that work with children and young people who have difficulties with their emotional or behavioural wellbeing.

Local areas have a number of different support services available. These might be from the statutory, voluntary or school-based sector, such as an NHS trust, local authority, school or charitable organisation.

Children and young people may need help with a wide range of issues at different points in their lives.

Parents, carers and young people can receive direct support through CAMHS.

Specialist CAMHS teams are NHS mental health services that focus on the needs of children and young people. They are multidisciplinary teams that often consist of:

• psychiatrists
• psychologists
• social workers
• nurses
• support workers
• occupational therapists
• psychological therapists – this may include child psychotherapists, family psychotherapists, play therapists and creative art therapists
• primary mental health link workers

Find out more about CAMHS.

The NHS has a specialist hearing impairment service who can help with a variety of aids if appropriate. They can also help to explain how your hearing loss has happened.

The charity Action on Hearing Loss has fantastic resources to help you to cope with any type of hearing loss.

Sense, the deaf/blind charity offer support to those who are deaf and blind: they have day services, some residential homes and also arrange holidays for those who are deaf and blind.

Genetic testing can be used to find out whether a person is carrying a specific altered gene (genetic mutation) that causes a particular medical condition.

It may be carried out for a number of reasons, including to:

• diagnose a person with a genetic condition;
• help work out the chances of a person developing a particular condition;
• determine whether a person is a carrier of a certain genetic mutation that could be inherited by any children they have

You’ll usually need a referral from your GP or a specialist doctor for genetic testing to be carried out. Speak to your doctor about the possibility of testing if you think you may need it.

Genetic testing usually involves having a sample of your blood or tissue taken. The sample will contain cells containing your DNA.  It can be tested to find out whether you’re carrying a certain mutation and are at risk of developing a particular genetic condition.

In some cases, genetic testing can be carried out to find out whether a baby is likely to be born with a certain genetic condition. This is done by testing samples of the fluid that surrounds the foetus in the womb (amniotic fluid) or cells that develop into the placenta (chorionic villi cells), which are extracted from the mother’s womb using a needle.

Depending on the condition(s) being checked for, the fluid or cell samples will be examined and tested in a genetics laboratory to look for a specific gene, a certain mutation on a specific gene, or any mutation on a specific gene.

If your doctor thinks genetic testing may be appropriate for you, you’ll usually be referred for genetic counselling as well.

Genetic counselling is a service that provides support, information and advice about genetic conditions.

It’s conducted by healthcare professionals who’ve received training in the science of human genetics (a genetic counsellor or a clinical geneticist).

What happens during genetic counselling will depend on exactly why you’ve been referred.

It may involve learning about a health condition that runs in your family, how it’s inherited, and which family members may be affected

An assessment of the risk of you and your partner passing an inherited condition on to your child will be carried out and they will look at the medical history of your family or your partner’s family and draw up a family tree to show you how the genetic fault could be passed onto other members of your family. The Genetic Counsellor should offer to inform any other family members of the risk of them having the condition and explain the need to have testing carried out, however some genetic services expect you to inform other family members. If you are not comfortable or able to do this then you can insist on the counsellor doing this for you.

They will offer support and advice if you have a child affected by an inherited condition and you want to have another child.

Children with learning difficulties will have an Educational Health Care plan, this details all the young person’s needs both from an educational and care point of view, to ensure that all their needs are met. Some children remain in mainstream schools with extra support whilst others attend special schools which are set up to cater for those with disabilities and complex needs. Your Social worker alongside educational professionals will help you to decide which school is best for your child. This can be especially difficult if your child is in mainstream school and their condition has deteriorated. Special schools will often have their own nurses who can administer your child’s medication. In mainstream and special schools, Community Nurses can visit to offer advice on any additional medication needs. It is important to visit the schools or colleges to make sure you are happy with the placement. Support staff from Alex TLC can accompany you on these visits.

A healthy diet should be followed to keep the person as healthy as possible and to ensure that their weight is kept within normal limits.

A dietician is responsible for initially prescribing the appropriate complete food supplement (enteral feeding), this is a milk which contains the correct nutritional value needed to remain healthy and maintain their weight. The dietician will set up a home delivery service and the parents or carers are then responsible for ordering the supplies needed normally on a monthly basis.

A speech and language therapist can help with any feeding difficulties, including suggestions for making food and drink easier to swallow, this may be through thickening drinks, mashing or pureeing foods. They are also responsible for observing and referring for tests if the person is having difficulty swallowing (dysphagia).

With a plethora of new appointments and specialists, it is easy to forget regular dental check-ups. Some leukodystrophies can cause teeth to develop poorly or not at all, to fall out or be prone to decay. Even if you or your loved one does not have a condition known to affect dental development, it is important to maintain good oral care to prevent tooth decay and loss, which can be painful as well as compounding problems with chewing, swallowing or speech. Even as a leukodystrophy develops, brushing teeth twice a day gives a sense of normality and routine as well as protecting against these issues. Specialist dentists can ensure that high levels of dental care are maintained when mobility or other issues make this difficult.

It can be very difficult to access good day services for adults with complex needs, most of the adult day provisions are aimed at those with learning difficulties or older people. Day services do exist for those who are most severely disabled; you may have to travel further or in some cases your own carer may accompany you to a local day service. Sense, the deaf/blind charity have colleges and day centres which offer specialist support to those who are dual sensory impaired and who also have other disabilities.

Incontinence is when you unintentionally pass urine or stools (poo) because you can’t control your bladder or bowel.

You may be able to get incontinence products on the NHS, such as incontinence pads or devices, for example, handheld urinals, but it depends on your local NHS organisation. To qualify for incontinence products, you may need to be assessed (which may involve keeping a diary of your bladder for 3 days) and start a treatment plan and meet criteria set out by your clinical commissioning group (CCG)

On your first visit, a continence adviser, usually a nurse who specialises in bowel and bladder problems, will assess you and explain your incontinence treatment options.

If you have incontinence, it’s important that you’re assessed by a healthcare professional. Depending on how severe it is, it may be possible to treat the cause of your incontinence, meaning you won’t need incontinence products.

Urinary incontinence may be treated with:

• bladder training – this involves increasing the length of time between feeling the need to urinate and passing urine
• pelvic floor muscle training – exercising weak or damaged pelvic floor muscles is often one of the first treatments recommended
• medication
• surgery

Bowel incontinence is often a symptom of another condition, such as constipation or diarrhoea, so treating the other condition may prevent the incontinence. For example, constipation or diarrhoea can be treated by changing your diet, taking medication or retraining your bowel.

NHS continence services

You can get advice about your condition from:

• an NHS continence service – which is staffed by specialist nurses, sometimes called continence advisers
• your GP – who may refer you to a continence adviser or your local district nurse
• You may be able to book an appointment at an NHS continence service without a referral from your GP.

Once you’ve been assessed, the healthcare professionals treating you will say which incontinence products are available on the NHS. Your local CCG may have criteria that you need to meet – for example, products may only be available for people with severe or long-term incontinence and you may be limited to a certain number of products per day.

If you request more incontinence products, you will be reassessed to check if this is necessary, and if so, more products should be offered.

NHS continence clinics have specialist teams providing support and medical advice for people with bowel or bladder incontinence. The clinics can be based in a hospital or in the community, such as in a health centre.

You can phone some continence clinics directly to make an appointment, but others will require you to be referred by your GP. To find out where your nearest NHS continence service is call your local hospital.

Urinal Sheath (Conveen)

A sheath is specially designed for men to provide a secure and discreet way to manage male urinary incontinence. It is a soft, flexible sleeve that looks like a regular condom and is rolled on to the penis in the same way. On the tip of the sheath there is an outlet that connects by tube to a urine collecting bag which is attached with straps to the leg.

Intermittent self-catheterisation (ISC)

(ISC) is used to treat bladders that do not empty fully.

You will be taught how to insert a urinary catheter into your bladder by a health professional – this can be done in a hospital, clinic or at home. Urinary catheters are inserted into the bladder at intervals throughout the day, or when you feel the need to go to the toilet. It is sometimes necessary to catheterise during the night as well. Once the urine has drained out, the catheter is removed.

Most people feel apprehensive about performing Intermittent Self Catheterisation. It can be a bit awkward to start with but with practice you will soon become confident, your local health care professional will offer you support until you feel able to manage alone.  Most people go on to say that they find it easy to self-catheterise after a time.

Suprapubic catheter

A suprapubic catheter is a hollow flexible tube that is used to drain urine from the bladder. It is inserted into the bladder through a cut in the tummy, a few inches below the navel (tummy button). This is done under a local anaesthetic or a light general anaesthetic.

Anyone who cannot empty their bladder may need a catheter. A suprapubic catheter may be chosen because it is more comfortable and less likely to give you an infection than indwelling urethral catheters.

Suprapubic catheters are sometimes used for the following reasons:

• People who require long-term catheterisation and are sexually active
• After some gynaecological operations e.g. surgery for prolapsed uterus or bladder, or surgery for stress incontinence
• Long-term catheterisation for incontinence. Although this is not recommended, sometimes medical staff feel it appropriate to avoid skin problems or other medical complications.

Some wheelchair users or people who can’t self-catheterise find this method simpler to manage

The doctor will insert your first suprapubic catheter during the initial operation. A small balloon at the tip of the catheter is inflated to prevent it falling out. A doctor or nurse can change the catheter in your home, or in their surgery or urology department. You, or a member of your family, may also be taught to change the catheter. You must not try to remove it without medical advice.

RADAR Key

A RADAR key (sometimes called an NKS Key) is a large, silver-coloured skeleton key that opens more than 10,000 locked, disabled toilets in the UK.

RADAR keys can be purchased at a large range of outlets including Disability Rights UK and the Blue Badge Company and if you are a disabled person you should be able to buy the key VAT free. Some local authorities provide RADAR keys free of charge.

Changing Places Toilets

Standard accessible toilets do not meet the needs of all people with a disability, Changing Places toilets are different to standard accessible toilets (or “disabled toilets”) and should be provided in addition to accessible toilets.

People with profound and multiple learning disabilities, as well people with other physical disabilities such as spinal injuries, muscular dystrophy and multiple sclerosis often need extra equipment and space to allow them to use the toilets safely and comfortably. These needs are met by Changing Places toilets.

Each Changing Places toilet provides:

• a height adjustable adult-sized changing bench
• a tracking hoist system, or mobile hoist if this is not possible.
• adequate space in the changing area for the disabled person and up to two carers
• a centrally placed toilet with room either side
• a screen or curtain to allow some privacy.
• wide tear off paper roll to cover the bench
• a large waste bin for disposable pads
• a non-slip floors.

You can see a map of where Changing Places toilets are located here.

Looking after a person with severe disabilities is exhausting. Nobody can do it all on their own. And the normal demands of everyday life don’t go away. So, when your family member becomes disabled it is important to get help, both for your own sake and so you can be there for the rest of your family. It’s also good for the person’s own wellbeing to have contact with other people.

You may be eligible for Carer’s Allowance if you meet all the following conditions: you look after someone who gets a qualifying disability benefit. you look after that person for at least 35 hours a week. you are aged 16 or over. You can find out more here.

Some families may not need outside help if they have a big enough network of family and friends to call on. If you are not in that position, you will need to ask your local Social Care services for help. They should provide a care package where people come into your home to help you.

• Don’t be afraid to keep asking for what you need, and to reject unsuitable people. Some carers are fantastic, but some are not. Both you and your family member need to feel comfortable with the people who come into your home. The carers should be willing to work with you using the methods that are best for your family.
• Some families prefer to opt for direct payments, where you are given a budget to employ your own carers. This gives you some choice over who helps with the care required and gives more flexibility to arrange care at the times you need it.

Whichever system you choose, the process of getting the right people can take time, and there may be periods when it is difficult. Be persistent, and you will get the right care eventually.

Think about the pattern of help that will suit you best. Perhaps you would like help with getting your family member up and looking after them while you for example take your other children to school. Or perhaps to provide cover during the day so that you can get out or helping to get them bathed or ready for bed. If they wake frequently in the night, you could ask for a night carer who can sit with them so that you can get a good night’s rest. All care packages must be agreed by a funding panel.

You will have a number of professionals involved with decision making and providing evidence about your care needs: this is often referred to as the Team Around the Child or Family.

These are services to help you if you need practical support because of illness or disability.

Social care and support is usually paid for by the local council’s social services department. For adults who need services, sometimes they and their and their families will have to contribute depending on savings and earnings. There is no charge for children who need care through social services.

• help at home from a paid carer
• meals on wheels
• having your home adapted
• equipment and household gadgets
• personal alarms and home security systems so you can call for help (for instance, if you have a fall)
• different types of housing, such as sheltered housing and care homes

Some people with long-term complex health needs qualify for free social care arranged and funded solely by the NHS. This is known as NHS continuing healthcare.

NHS continuing healthcare can be provided in a variety of settings outside hospital, such as in your own home or in a care home.

NHS continuing healthcare is for adults. Children and young people may receive a “continuing care package” if they have needs arising from disability, accident or illness that can’t be met by existing universal or specialist services alone. Click here to find out more about the children and young people’s continuing care national framework.

To be eligible for NHS continuing healthcare, you must be assessed by a team of healthcare professionals (a multidisciplinary team). The team will look at all your care needs and relate them to:

• what help you need;
• how complex your needs are;
• how intense your needs can be;
• how unpredictable they are, including any risks to your health if the right care isn’t provided at the right time.

Your eligibility for NHS continuing healthcare depends on your assessed needs, and not on any particular diagnosis or condition. If your needs change then your eligibility for NHS continuing healthcare may change.

You should be fully involved in the assessment process; the assessment is based around the Decision Support Tool (DST). You will be kept informed and have your views about your needs and support taken into consideration. Carers and family members should also be consulted where appropriate.

A decision about eligibility for a full assessment for NHS continuing healthcare should usually be made within 28 days of an initial assessment or request for a full assessment.

If you aren’t eligible for NHS continuing healthcare, you can be referred to your local council who can discuss with you whether you may be eligible for support from them.

If you still have some health needs, then the NHS may pay for part of the package of support. This is sometimes known as a “joint package” of care.

There are specialist respite centres and hospices who will look after your family member for anything from a night to a couple of weeks, so that you and your family can have a break. Your doctor, or sometimes your social worker, can refer you. Your care package should include a number of nights per year of respite care to use as you wish.

Respite care does not suit every family, but it’s an option you should perhaps try. It’s natural to have doubts about something new of this kind, but once they have tried respite care, many families wonder why they didn’t do it sooner. Another option is to have a clause put in to your care package that allows you and your family to go on holiday each year with a carer to assist you.

Having caring responsibilities can put a huge amount of pressure and stress on families and individuals, Carers UK can offer a wealth of help and advice as can our Support Services team.

Young carers can find help and advice from the charity Young Minds. There are also often local groups for young carers, your social worker should be able to help you find information.

Losing a loved one to a leukodystrophy has a devastating impact on the whole family. Bereavement services can help all family members with next steps, including funeral arrangements and grief counselling. Alex TLC can help with this, either by helping you to find relevant services or providing a listening ear; particularly valuable if you have been receiving support from us throughout your loved one’s condition and feel a need to talk to someone who understands your pain.

Hospices also provide bereavement services; you can contact your local hospice even if your loved one did not have a connection to the hospice. National organisations which provide this when a child has passed away or is coping with bereavement include Together for Short Lives and Child Bereavement UK. Cruse Bereavement Care offer support to children, young people and adults when someone dies.

If you have never accessed benefits before, you may not be aware that you may be eligible for financial support from the government. If you already receive some benefits, your diagnosis or the diagnosis of someone you care for may mean you are entitled to further support. Alex TLC can provide support with understanding and applying for these benefits. Disability Rights UK can offer expert advice and guidance. You can find out more about which benefits you might be entitled to by visiting the Benefits page of the Government website.

Charitable grants can also help you and your family to cope in a difficult time, including through the Alex TLC grant programme. Find out more about the programme and your eligibility here (How We Support You, Grant Programme). There are also larger organisations who may be better placed to provide this kind of support, take a look at Turn2Us to see what is available to you.

NB: This information and Alex TLC experience is based in the UK, amount and type of government benefits available in other countries will vary.

Called ‘Complementary and Alternative Medicines’ (CAMs) by the NHS, these are holistic therapies which are not part of mainstream healthcare. This includes homeopathy, aromatherapy, massage, acupuncture, reflexology and meditation. For some, these therapies can sometimes provide relief from the pain of some symptoms of leukodystrophy. Other benefits can include muscle relaxation, relief from stress and improved circulation. The only CAMs professionals who are regulated in the same way as conventional medicine are osteopaths and chiropractors – for all other types of this therapy, it is legal to practice in the UK without any qualifications and without adhering to any quality standards.

The UK Complementary and Natural Healthcare Council (www.cnhc.org.uk) was set up by government and holds a register of alternative therapy practitioners that have agreed to be bound by the highest standards of conduct.

While you should consult your GP and other medical professionals before taking alternative medications which can have an effect on prescribed medication, some of these methods have been shown to be able to provide some relief to some.

This information is intended to assist leukodystrophy patients and their families in the management of their condition. All information and links are based around UK services – our Support Service Team are happy to help with individual enquiries Contact both from the UK and abroad.

Occupational therapists can also provide support with many of these items, helping you to manage daily life at home, school and work.

The  Newlife charity can help to get the equipment you need, equipment that has often been refused or delayed by statutory services meaning that babies and children may suffer unnecessarily. Newlife runs the only fast track equipment services in the UK helping babies and children in urgent need.

Making adaptations to your home can make caring for a person with a disability a little easier. Things many people take for granted, like being able to get upstairs or go into the garden, can be very difficult and so it becomes necessary to carry out adaptations to your home. This can be a very stressful and emotional time so we have compiled some helpful advice on who you can contact for help, grants which may be available and things to keep in mind when planning the adaptations.

A Disabled Facilities Grant, often referred to as a DFG, may be available for some home adaptations including major adaptations. This can include extensions and structural work to accommodate fixed hoists, stairlifts, downstairs bathrooms, shower units etc. If this type of adaptation is needed, a local occupational therapist (OT) will come to assess your needs and then contact the relevant council departments. Applications for grants should be made via the OT to local councils.

A means test for adults (including household income and household savings over £6,000) is used to decide how much financial assistance can be provided. Depending on the outcome of the test, the amount of assistance offered can vary from 0-100% of the cost.

Disabled children under 19 can get a grant without their parents’ income being taken into account. You must own the property or be a tenant (or be a landlord and have a disabled tenant) and you must intend to live in the property during the grant period (currently 5 years). Please note that you may not receive any grant if you start work on your property before the council approves your application.

Examples of the types of adaptations a DFG can be used to provide:

• widen doors and install ramps
• improve access to rooms and facilities – e.g. stairlifts or a downstairs bathroom/bedroom
• moving and handling equipment
• provide a heating system suitable for your needs
• adapt heating or lighting controls to make them easier to use

DFGs operate across England, Wales and Northern Ireland. Conditions for DFGs will vary according to the country in which you live.

Click here for more information on Disabled Facilities Grants.

For details of schemes in Scotland see Disability Information Scotland.

Information and advice on design issues is available from the Centre for Accessible. The organisation is a leading authority on inclusive design, and they provide consultancy, training, research and publications on building design and management to meet all user needs. This organisation keeps a database of architects, surveyors and similar professionals with experience of designing for disabled people and has a number of useful publications and design sheets.

Beds

Electric profiling beds offer various benefits for those with long-term health and mobility issues, as well as benefits for those that care for them.

An electric profiling bed is a specially designed electric bed that can be adjusted to help to help the person to be positioned comfortably. The mattress platform of an electric profiling bed is divided into sections to allow areas of the bed to be positioned at different heights and angles to suit the person’s needs.

Most electric profiling beds are height adjustable, which makes transferring from bed to chair for example much easier, it is also a really important function for those who care for a disabled person as it can be put at the correct working height which helps to prevent back injuries. and are available in a variety of specifications.

You should always seek professional advice before buying a bed as it is important to consider the specific needs of the individual to ensure that the appropriate profiling bed is chosen. Your Occupational Therapist (Condition Management, with symptoms, Services, Occupational Therapist) will be able to help you with an assessment.

Pressure relieving mattresses

Prevention of pressure sores is an important part of caring for those with complex disabilities and reduced mobility. There are several different types of pressure relieving mattresses made from different materials. Dependent on individual need they may include foam, memory foam, gel, water, or use low air loss and alternating air systems.

Static air mattresses

Air is channelled within the cells of these static mattresses. The air-filled cells increase the surface area over which the pressure is distributed and help the air to circulate and to disperse heat and moisture.

Alternating air mattresses

These mattresses are made of air cells which inflate and deflate alternately or sequentially. This ensures that pressure on any given point is continually changing.

The sequence of inflation and deflation is controlled by a pump which is usually mains powered. The interval of inflation and deflation can also be controlled on some models.

Bed & Chair Tables

Over bed and over chair tables facilitate leisure, work, eating and drinking activities for those with conditions confining them to bed or a wheelchair. They come with a number of weight and style options, mostly with wheels or castors.

Hoists provide a way to transfer somebody with limited mobility without putting unnecessary strain on the carer or the person being moved.

There are three types of hoist:

• Ceiling hoists
• Portable overhead (gantry) hoists
• Mobile hoists

You should always contact your local social services and seek advice from a professional such as an Occupational Therapist (OT) (Condition Management, with symptoms, Services, Occupational Therapist) to undertake a full assessment. The OT will provide and maintain the appropriate equipment, as well as providing carers with all the training requirements.

Ceiling track hoists

Ceiling hoists run along permanently fixed tracks, so they offer less flexibility in use than a mobile system. On the other hand, they do not occupy floor space as a mobile hoist does, and they may be operated by the user independently – which is not possible with any floor standing system.

They are generally easier for carers to operate than a mobile hoist but may not always be suitable to be installed into your home as ceiling joists may need to be reinforced, and doorways altered, to accommodate the track.

Ceiling track systems are powered by mains electricity for the transfer, with either a manual or powered raising and lowering mechanism. There will either be a battery back-up for emergencies, most systems are powered by rechargeable batteries with a charging/docking point at the end of the track.

Portable overhead hoists (Gantry hoists)

A more portable/temporary alternative to a ceiling track hoist is also available, in the form of a portable hoist and gantry arrangement.

This is particularly suitable for situations where a hoist is required but you are awaiting adaptations to your home.

Mobile hoists

Mobile hoists don’t require any track installation, so offer more flexibility of use. They do, however, demand more of the carer, and can be more difficult to operate.

In selecting a mobile hoist, thought needs to be given to the environment where it will be used: whether there is enough room to manoeuvre it into the right position; if the legs of the hoist will fit under or around any furniture, such as bed, bath or chair; whether the floor surface is smooth enough to allow it to operate easily: thick carpet or threshold strips are difficult to move over.

It is also important to check that they have sufficient operating range to lift the person clear of any surface, and perhaps also to pick them up from floor level in an emergency.

They also need to be stored when not in use, preferably in an area where they are out of the way, and with a charging point for their battery.

When designing an accessible bathroom for a someone with a disability, it is of utmost importance to get an individual assessment with an occupational therapist as you may be eligible to receive a Disabled Facilities Grant (DFG) to help towards the cost of the adaptation.

Information and advice on design issues is available from the Centre for Accessible. The organisation is a leading authority on inclusive design, and they provide consultancy, training, research and publications on building design and management to meet all user needs. This organisation keeps a database of architects, surveyors and similar professionals with experience of designing for disabled people and has a number of useful publications and design sheets.

Things to think about:

• the needs and preferences of the person;
• If the adaptation is for a child think about their age and size and how the facilities will meet their needs or can be easily adapted further to reflect their changing needs as they grow and their emerging independence and need for privacy;
• other bathroom users;
• access and space;
• structural alterations, and whether a grant is available to help cover costs;
• type of bathroom e.g. bath or shower/wet room

Equipment you may need:

• changing table for personal care;
• hoisting equipment;
• useful equipment;
• bath seats and stools;
• wall mounted shower seats/shower stools;
• toilet frames;
• raised toilet seats;
• bathroom grab rails.

Washing gadgets:

• long handled scissors;
• table top nail clippers;
• long handled hair brush/comb;
• a Shower Sandal is a useful aid for people that find it hard to bend down and reach their lower limbs. It can be used to wash and clean the feet without bending over. The suction cups enable it to be secured to the bath floor. When the user applies some liquid soap to the bristles, and then moves their foot back and forth, the foot is cleaned.

There is a good range of equipment available to help with everyday tasks in the kitchen and around the home. This may include small items to help with tasks such as opening tins and jars, cleaning or cooking, as well as larger items such as kitchen furniture and fittings.

Utensils

Adapted utensils, carving knives, gripping aids, scissors, forks and spatulas for the disabled or elderly. These are designed with either special grips or blades for people with weak grip or limited range of motion.

Adapted Cutlery

Adapted cutlery designed especially for people with a weak grip or a limited range of motion. The cutlery for disabled has specialized handles which are lightweight, easy to use, and ergonomically designed. This kind of cutlery provides a sense of independence to the people who have muscle/limb issues or poor grip.

Utensil Holders

Clips, bands, and holders are available, these can be helpful for those with weak grip or fingers or who have a limited range of motion.

Openers

Adapted tin can openers, jar openers and bottle openers. These items are useful for people with weak grip or limited range of motion.

Non-Slip Products

Non-slip matting and non-slip netting products help keep items stable. Non-slip mats and other materials can also be useful in the, kitchen, bathroom and in a wide variety of situations around the home.

Kettle Tippers & Teapots

Devices to help safely pour water from kettles. Kettle tippers are made of wire or plastic and help the user fill or pour from the kettle with minimum strain.

Perching Stools

Perching stools enable the user to ‘semi-sit’, reducing the strain from either standing for long periods or from getting up and down from full seating positions. A perching stool is typically used at kitchen worktops or in the bathroom.

Cups & Mugs

Two handled, non- spill and wide mouth cups and mugs for people with a range of physical disabilities or dexterity limitations. Some products are designed for people with temperature sensitivities or have a non-spill function for those with an unstable grip.

Plates & Bowls

Scoop plates, non- slip and non- spill plates and bowls that help those with a variety of physical disabilities. These include people with a weak grip or the use of a single hand. Plate guards and surrounds, deep side dishes and bowls can help to maintain a certain amount of independence.

There are several accessible leisure activities from bowling to swimming. Try to find a local hydrotherapy pool as this is a therapeutic whole-body treatment that involves moving and exercising in water – essentially physiotherapy in a pool. The water temperature is usually 33–36ºC, which is warmer than a typical swimming pool. Many hospices and hospitals have hydrotherapy pools.

If you are wheelchair user think about getting out and about for walks and visiting local attractions, many of which are now fully accessible and have Changing Places toilets.

Cinemas and theatres have wheelchair spaces, and some have special showings especially for those with disabilities.

For those with vision impairment Audio Description can enhance the experience of watching tv, films and theatre productions. Find out more about Audio Description.

The Calvert Trust enables disabled adults and children of any ability, together with their families and friends, to achieve their potential through the challenge of outdoor adventure in the countryside.

They provide:

•         A wide range of adventurous outdoor activities, meaningful challenge and adventure within a framework of safety
•         Skilled, qualified and caring staff able to fulfil the needs of visitors
•         Accommodation appropriate to the needs of the visitors
•         Facilities for families and friends to share the enjoyment and experience

Disability Grants can offer a grant towards the cost of a holiday. Find out how to apply here.

Make a Wish,  Rays of Sunshine and Starlight charities grant life-changing wishes for children with critical illnesses. This could be a special holiday, to meet someone famous or even be their favourite character or Super Hero for a day.

It can be difficult to find suitable play activities for children who have disabilities and sensory impairment.

Sensory room

Most children’s hospices have sensory rooms which is a special room designed to develop a person’s sense, usually through special lighting, music, and objects designed to enhance experiences of touch and smell. It can also be used as a therapy for children with limited communication skills.

You can buy sensory lights, bubble tubes etc to have at home, and, using your imagination, you can use every day objects creatively to give your child a sensory experience. For example, if you are reading a story about going to the beach you could have some sand, water, buckets and spades to use to tell the story. Play specialists (Condition Management, with symptoms, Services, Play Specialist) can help with ideas of sensory play.

Soft play areas

Soft play areas can be a really good resource for those with disabilities and some centres will run special sessions for children with disabilities.

Employers should make reasonable adjustments to encourage people with disabilities and conditions such as leukodystrophies to apply for jobs and to give them a fair chance of success.

Reasonable adjustments should also be made to your working day where possible, to help you to do your job while coping with your condition. The Gov.UK website suggests some adjustments your employer may make, dependent on the demands of your role and the effects of your condition:

• doing things another way, such as allowing someone with social anxiety disorder to have their own desk instead of hot-desking;
• making physical changes to the workplace like installing a ramp for a wheelchair user;
• letting a disabled person work somewhere else, such as on the ground floor or from home;
• changing equipment, for instance providing a special keyboard or chair;
• allowing employees who become disabled to make a phased return to work, including flexible hours or part-time working;
• offering employees training opportunities, recreation and refreshment facilities.

There are government grants available through the Access to Work programme to help with the additional costs of these adjustments.

Despite these adjustments, you or your loved one may not be able to continue working in the same role or may have to give up work completely. This can be a difficult lifestyle change. Alex TLC can support you with this change, helping to find more suitable employment or alternative activities, or to adapt to life at home.

There are a wide range of wheelchairs available and you should be referred to your local Wheelchair Service for an assessment. This will ensure that the chair meet your needs in terms of size, comfort and posture control. Poor seating can lead to increased pain, particularly in the back, hips and neck, pressure sores and decreased mobility and independence.

A proper assessment of individual needs is important, in order to make sure that the correct piece of specialist seating equipment is chosen.

Anyone who is unable to keep a stable, comfortable position when they are seated will need a more supportive chair.

Chairs with adjustable angle seats and backrests can have the seat angled slightly down at the back, while the backrest is adjusted to maintain the most comfortable angle, to assist anyone who tends to fall or slide forwards in their chair, or has difficulty holding their head up. Such a sloping seat, however, is difficult to get out of, and a hoist will almost certainly be required to facilitate transfers.

Multi-adjustable deep seat chairs can be individually tailored to meet the user’s needs, with adjustable head and side supports, as well as back and seat that can be altered in height, width, depth and angle. A tilt-in-space facility means that the chair can be angled backwards to provide a deep seat, then tilted forwards to a horizontal position to make it easier to get out of or to facilitate feeding and activities.

Modular seating systems, as the name suggests, are built out of various elements to meet the exact needs of the user. A common chair base is customised with components such as footrests, headrest, additional lateral supports, etc.

Chairs to meet the needs of users who are largely immobile often have pressure-relieving features built in. Many specialist seating providers manufacture chairs that incorporate pressure-relieving features in the seat and backrest area. These may be based on cells filled with water, air or gel, often combined with hi-tech foam.

There are several different types of walking stick from the traditional wooden type to more commonly used lightweight metal sticks, some of which are foldable. It is important to ensure that the stick is the correct height so it does not cause muscular aches and pains and problems with your posture. Your Occupational Therapist and Physiotherapist will be able to help you ensure you have the correct type.

Many people use walking frames instead of two sticks, again you must ensure that they are the correct height and should always seek advice from your Occupational Therapist or Physiotherapist.

FES uses small electrical impulses to activate muscles by exciting nerves leading to muscles. FES is used widely in rehabilitation for therapy, function restoration and maintenance of vital function in muscle weakness and/or partial paralysis.

Two self-adhesive patches (electrodes) are usually placed on the skin close to the nerve supplying the muscle and over the centre of the muscle. Leads connect the electrodes to a stimulator that produces the impulses.

The most common problem treated by FES is called dropped foot. This is the inability to lift the foot and toes when walking, causing them to drag on the ground. It is caused by weakness of the muscles that lift the foot and excessive tightness (spasticity) in the muscles of the calf.

Stimulation is given to the muscles at the front of the leg which activates the muscles that lift the foot during walking. A switch worn in the shoe triggers the stimulation and the electrical signals reach the muscles through electrodes stuck to the skin on the side of the leg, just below the knee.

The stimulator is the size of a pack of cards which is operated by a small battery and can be worn at the waist on a belt, in a pocket or on a knee strap. Leads connect the stimulator to the switch and electrodes.

Electrical stimulation can help people walk safer, faster, with less effort and with more confidence. Stimulators are being continually developed with computer technology allowing them to be more finely controlled and more muscle groups can be stimulated to produce a more natural walking pattern.

Your Physiotherapist can assess if FES is a suitable option.

If you receive the higher rate of mobility in your Personal Independence payment (PIP) or Disability Living Allowance (DLA) you may be entitled to use the Motability Scheme which allows disabled people to exchange their mobility allowance to lease a new car, scooter or powered wheelchair.

Driving a standard car can be difficult if you have a disability, or reduced mobility or strength in your arms or legs. An adapted car specialist can guide you through the process to understand which adapted features will help you with accessing and/or driving your adapted car.

Car adaptations include:

• Driving aids, such as push-pull hand brakes and pedal extensions;
• Steering aids;
• Wireless keypad controls.

Find out more about adaptations through the Motability Scheme here.

Wheelchair accessible vehicle (WAV) is a term used to describe many different types of wheelchair accessible vehicles. These are often also referred to as Mobility Vehicles, Adapted Vehicles, Disabled Cars and so on. They usually have a ramp or lift alongside appropriate harnesses and restraints which enable wheelchair users to travel safely and securely in the rear of a vehicle. Vehicles are usually MPV or vans with seating for further passengers adjacent to the space for the wheelchair user.

A drive from wheelchair vehicle is a car, van or MPV that has been comprehensively converted to allow a disabled wheelchair user to independently access the vehicle and then drive the vehicle with the benefit of specialist adaptations whilst seated safely and securely in their wheelchair.

Similar in concept to drive from wheelchair vehicles, transfer vehicles are designed in a similar fashion to afford independent travel for wheelchair users who are able to transfer from their wheelchair to either the standard driver’s seat or more commonly to a mechanised seat that can move backwards and forwards, rotate and rise and fall.

These are less common and typically more expensive than standard wheelchair accessible vehicles.  This is due to the additional cost of modifying the vehicle to allow the wheelchair passenger to sit adjacent to the driver.

Some Up-front wheelchair passenger vehicles also have the ability for the passenger to change position with the driver thus also serving as a “drive from wheelchair” vehicle.

The ability to function online is a large part of everyday life, however those with disabilities often face challenges accessing the right equipment or programmes to suit their needs. Ability Net are a registered charity offering tailored solutions for the digital needs of the disabled and elderly community.”

A diagnosis of one of these conditions, for yourself or a loved one, can seem overwhelming. Even with friends and family to support you, it can be difficult to identify what help you need. Many of the symptoms and consequences of leukodystrophy can be managed with the right support. Alex TLC can provide support with these services including helping you to understand what is available.

This information is intended to assist leukodystrophy patients and their families in the management of their condition. All information and links are based around UK services – our Support Service Team are happy to help with individual enquiries both from the UK and abroad.

Alex TLC Support Services can accompany you to meetings with doctors or service providers, or make calls to them, in order to advocate on your behalf. This can help if you are worried that there are things you do not understand or that you are not getting the support you need. Alex TLC Support Services are experienced in providing this free support, with a strong understanding of services available and a personal approach to understanding your needs. See our How we Support You page for more information.

If you have never accessed benefits before, you may not be aware that you may be eligible for financial support from the government. If you already receive some benefits, your diagnosis or the diagnosis of someone you care for may mean you are entitled to further support. Alex TLC can provide support with understanding and applying for these benefits. Disability Rights UK can offer expert advice and guidance. You can find out more about which benefits you might be entitled to by visiting the Benefits page of the Government website.

Charitable grants can also help you and your family to cope in a difficult time, including through the Alex TLC grant programme. Find out more about the programme and your eligibility here. There are also larger organisations who may be better placed to provide this kind of support, take a look at Turn2Us to see what is available to you.

NB: This information and Alex TLC experience is based in the UK, amount and type of government benefits available in other countries will vary.

A healthy diet should be followed to keep the person as healthy as possible and to ensure that their weight is kept within normal limits. The dietician will also be able to help with any disease specific dietary recommendations and requirements.

Your child will more than likely be in mainstream education, but if they have any learning difficulties, they will have an Educational Health Care plan. This details all the young person’s needs both from an educational and care point of view, to ensure that all their needs are met.

If your child needs to take medication during the school day, Community Nurses can visit to offer advice on any additional medication needs.

Genetic testing can be used to find out whether a person is carrying a specific altered gene (genetic mutation) that causes a particular medical condition.

It may be carried out for a number of reasons, including to:

• diagnose a person with a genetic condition;
• help work out the chances of a person developing a particular condition;
• determine whether a person is a carrier of a certain genetic mutation that could be inherited by any children they have

You’ll usually need a referral from your GP or a specialist doctor for genetic testing to be carried out. Speak to your doctor about the possibility of testing if you think you may need it.

Genetic testing usually involves having a sample of your blood or tissue taken. The sample will contain cells containing your DNA.  It can be tested to find out whether you’re carrying a certain mutation and are at risk of developing a particular genetic condition.

In some cases, genetic testing can be carried out to find out whether a baby is likely to be born with a certain genetic condition. This is done by testing samples of the fluid that surrounds the foetus in the womb (amniotic fluid) or cells that develop into the placenta (chorionic villi cells), which are extracted from the mother’s womb using a needle.

Depending on the condition(s) being checked for, the fluid or cell samples will be examined and tested in a genetics laboratory to look for a specific gene, a certain mutation on a specific gene, or any mutation on a specific gene.

If your doctor thinks genetic testing may be appropriate for you, you’ll usually be referred for genetic counselling as well.

Genetic counselling is a service that provides support, information and advice about genetic conditions.

It’s conducted by healthcare professionals who’ve received training in the science of human genetics (a genetic counsellor or a clinical geneticist).

What happens during genetic counselling will depend on exactly why you’ve been referred.

It may involve learning about a health condition that runs in your family, how it’s inherited, and which family members may be affected

An assessment of the risk of you and your partner passing an inherited condition on to your child will be carried out and they will look at the medical history of your family or your partner’s family and draw up a family tree to show you how the genetic fault could be passed onto other members of your family. The Genetic Counsellor should offer to inform any other family members of the risk of them having the condition and explain the need to have testing carried out, however some genetic services expect you to inform other family members. If you are not comfortable or able to do this then you can insist on the counsellor doing this for you.

They will offer support and advice if you have a child affected by an inherited condition and you want to have another child.

When you or a family member is diagnosed with a serious illness it is important to look after yours and members of your family’s mental health. It is a very stressful and emotional time, so please seek help.

Your GP can refer you to your local Mental Health team for individual counselling and support. It is important to get help if you feel you need it.

Find out more about NHS mental health services.

Alex TLC can help you individually or put you in contact with others for peer support. If you need help coping with a leukodystrophy diagnosis, get in touch now.

Play Therapy helps children understand muddled feelings and upsetting events that they haven’t had the chance to sort out properly. Rather than having to explain what is troubling them, as adult therapy usually expects, children use play to communicate at their own level and at their own pace, without feeling interrogated or threatened, tis can be especially helpful when the child has a deteriorating condition and communication may have become difficult.

Play is vital to every child’s social, emotional, cognitive, physical, creative and language development. It helps make learning concrete for all children and young people including those for whom verbal communication may be difficult.

Play Therapy helps children in a variety of ways. Children receive emotional support and can learn to understand more about their own feelings and thoughts. Sometimes they may re-enact or play out traumatic or difficult life experiences in order to make sense of their past and cope better with their future. Children may also learn to manage relationships and conflicts in more appropriate ways.

The outcomes of Play Therapy may be general e.g. a reduction in anxiety and raised self-esteem, or more specific such as a change in behaviour and improved relations with family and friends.

CAMHS is used as a term for all services that work with children and young people who have difficulties with their emotional or behavioural wellbeing.

Local areas have a number of different support services available. These might be from the statutory, voluntary or school-based sector, such as an NHS trust, local authority, school or charitable organisation.

Children and young people may need help with a wide range of issues at different points in their lives.

Parents, carers and young people can receive direct support through CAMHS.

Specialist CAMHS teams are NHS mental health services that focus on the needs of children and young people. They are multidisciplinary teams that often consist of:

• psychiatrists
• psychologists
• social workers
• nurses
• support workers
• occupational therapists
• psychological therapists – this may include child psychotherapists, family psychotherapists, play therapists and creative art therapists
• primary mental health link workers

Normally based on children’s wards or in children’s hospitals, a play specialist can help with simple medical procedures, blood tests and taking medication, and provide distraction therapy to support the child. They can explain medical procedures and equipment to children.

PGT (Pre-implantation genetic testing) is available to couples that are at risk of having a child with a specific genetic or chromosome disorder. It prevents the birth of an affected child by testing an embryo before it is implanted in the uterus (womb).

Briefly, it involves the use of Assisted Reproductive Technology (ART), which in other circumstances is offered to couples with fertility problems. The aim is to obtain and fertilise a number of eggs. Once fertilised, the embryos develop for three days and then one cell is removed from each embryo. The genetic material (DNA or chromosomes) within each cell is then tested for the altered gene or chromosome abnormality. Up to two unaffected embryos are then transferred to the uterus with the hope that they will implant and form a pregnancy. If successful, a pregnancy should be unaffected. PGT is a lengthy and complex process. The stages of PGT treatment are described in a booklet written by  Guys and St Thomas hospital and can be found here.

Leukodystrophies approved for PGT:

Adrenoleukodystrophy;

Aicardi-Goutieres Syndrome;

Alpha-Mannosidosis;

Canavan Disease;

CADASIL;

some types of GM2 gangliosidosis;

Krabbe Disease;

some types of Leighs Disease;

Metachromatic Leukodystrophy;

some types of Oculodentodigital Dysplasia;

Pelizaeus-Merzbacher Disease;

Peroxisome Biogenesis Disorders

This list is subject to change; to check the official list of conditions approved within the UK, go to Human Fertilisation and Embryology Authority.

For further information on how to be referred please visit Guys and St Thomas hospital.

For parents facing difficult decisions around pregnancy, the support organisation Antenatal Results and Choices (ARC) provides excellent information and resources.

Children who are not affected by the condition may also need support to cope with the changes to family life brought about by their family member’s diagnosis with leukodystrophy. Children without the condition may feel upset and scared at what is happening and what may happen.  Alex TLC can provide support to help unaffected children, including directing families to specialist support to give a sense of normality to these children’s lives, including hospice support groups and connecting children in similar situations through our peer support network. See our How We Support You page for more details and to get in touch.

As these conditions are genetic, diagnosis of one member of the family will lead others to be tested for the condition – a genetic counsellor can organise this if it has not yet happened.

This can be a very difficult and scary time for families, as relationships and trust you have built up with doctors and children’s services will change. We provide advice, information and support through the transition from child to adult services.

Transitioning from children’s services to adult should start around the age of 14 and all professionals involved with the care and support of the young person should start thinking about how to smoothly transition. In healthcare this transitioning normally takes place at the age of 16, however some doctors will continue to see the young person until they are 18, this should be checked with the individual doctors and hospitals.

For those still in education the transition to adult care services is at the age of 18. Most County Councils have a team who support transitions and is included within the 0-25 framework, this is to provide continuity between children’s and adult services.

You can find out more about transitions from the National Institute for Health and Care Excellence (NICE) who have produced a guideline detailing how transitions should work.

Adrenoleukodystrophy; Giant Axonal Neuropathy; Glutaric acidemia type 1; Krabbe Disease; Metachromatic Leukodystrophy

For some conditions there are preventative treatments available. Some treatments are well established, whilst others are more experimental or still at trial stage. This is indicated within individual treatment sections.

All information and links are based around UK services – our Support Service Team are happy to help with individual enquiries both from the UK and abroad.

Bone Marrow Transplants have successfully been used for many years to treat individuals with asymptomatic Adrenoleukodystrophy, with a Loes score of less than 8.

There are three types of transplant:

• Allogeneic transplant for genetic diseases uses cells from another person, or a donor, who does not have the disease
• A haploidentical transplant is a type of allogeneic transplant. It uses healthy, blood-forming cells from a half- matched donor to replace the unhealthy ones. The donor is typically a family member.
• An autologous transplant uses a patient’s own cells for the transplant, so no donor is required

A stem cell or bone marrow transplant is a long and complicated process that involves 5 main stages.

1. Tests and examinations – to assess your general level of health.
2. Harvesting – the process of obtaining the stem cells to be used in the transplant, either from you or a donor.
3. Conditioning – treatment to prepare your body for the transplant.
4. Transplanting the stem cells.
5. Recovery – you’ll need to stay in hospital for at least a few weeks until the transplant starts to take effect.

These stages are described in more detail below.

Before a stem cell transplant can be carried out, you’ll need a series of tests and examinations to ensure you’re healthy enough for the procedure to be carried out.

Transplants tend to be more successful in people who are in good general health, despite their underlying condition.

The tests you might have include:

• an electrocardiogram (ECG) – a simple test used to check your heart’s rhythm and electrical activity
• an echocardiogram – a scan used to look at the heart and nearby blood vessels
• an X-ray and/or computerised tomography (CT) scan to check the condition of organs such as the lungs and liver
• blood tests to check the level of blood cells and assess how well the liver and kidneys are working

There are 3 main ways stem cells can be harvested, these are:

• from blood – where the stem cells are removed from the donors blood using a special machine (see below)
• from bone marrow – where a procedure is carried out to remove a sample of bone marrow from the hip bone (see below)
• from cord blood – where donated blood from the placenta and umbilical cord of a new-born baby is used as the source of stem cells (find out more from the NHS Cord Blood Bank)

The most common way to harvest stem cells involves temporarily removing blood from the body, separating out the stem cells, and then returning the blood to the body.

To boost the number of stem cells in the blood, medication that stimulates their production will be given for about 4 days beforehand. On the fifth day, a blood test will be carried out to check there are enough circulating stem cells.

If there are enough cells, veins in each arm will be connected by tubes to a cell-separator machine. Blood is removed from one arm and passed through a filter, before being returned to the body through the other arm.

This procedure isn’t painful and is done while the donor is awake. It takes around 3 hours and may need to be repeated the next day if not enough cells are removed the first time.

An alternative method of collecting stem cells is to remove around a litre of bone marrow from the donors’ hip bone using a needle and syringe.

The needle may need to be inserted into several parts of your hip to ensure enough bone marrow is obtained. This is done under a general anaesthetic, so you’ll be asleep and won’t feel any pain while it’s carried out.

However, the area where the needle is inserted may be painful afterwards and you’ll have marks on your skin where the needles were inserted (usually one on each side).

Treatment with high doses of chemotherapy and sometimes radiotherapy will be needed before the stem cells can be transplanted to:

• destroy existing bone marrow cells – this is to make room for the transplanted tissue
• stop your immune system working – this reduces the risk of the transplant being rejected

As part of the conditioning treatment, you’ll be given a range of medicines, so a tube called a central line will usually be inserted into a large vein near your heart. This means medication can be passed into your body without the need for lots of injections.

The conditioning process usually lasts up to 10 days. You’ll probably need to stay in hospital throughout the treatment.

Conditioning can cause a number of unpleasant side effects, such as sickness, hair loss and tiredness. These are usually temporary. Your treatment team will discuss the risks of treatment with you beforehand.

The transplant will usually be carried out a day or 2 after conditioning has finished.

The stem cells will be passed slowly into your body through the central line. This process often takes around a couple of hours.

The transplant won’t be painful, and you’ll be awake throughout.

Once the transplant is finished, you’ll need to stay in hospital for a few weeks while you wait for the stem cells to settle in your bone marrow and start producing new blood cells.

During this period you may:

• feel weak, and you may experience vomiting, diarrhoea and/or a loss of appetite
• be given fluids by mouth or through a tube running from your nose to your stomach (a nasogastric tube) to prevent malnutrition
• have regular blood transfusions, as you’ll have a low number of red blood cells
• have regular platelet transfusions, as you’ll have a low number of platelets
• stay in a special germ-free room, and visitors may need to wear protective clothing to prevent infections, as you’ll have a low number of infection-fighting white blood cells

Many people are well enough to leave hospital between 1 and 3 months after the transplant. However, if you develop complications such as an infection, you may not be able to leave hospital for longer.

Even after going home, you’ll still be at risk of infections for potentially a year or 2 because it can take a while for your immune system to return to full strength.

If donated stem cells were transplanted, you’ll also usually need to take medicines that stop your immune system from working so strongly, to reduce the risk of your body attacking the transplanted cells (immunosuppressants), or to reduce the risk of the transplanted cells attacking other cells in your body.

Patients will be followed regularly after BMT to ensure that they remain healthy and to carry out routine checks. They will be followed for a number of years post-transplant.

Gene therapy is currently in clinical trials for both Adrenoleukodystrophy and Metachromatic Leukodystrophy with very promising results.

Gene therapy removes the risk of Graft versus host disease (GvHD), which is a serious complication of Bone Marrow Transplant. GvHD is where the graft reacts against the host. The graft is the donated marrow or stem cells. The host is the person receiving the transplant. GvHD can cause diarrhoea, skin rashes and liver damage.

GvHD happens when particular types of white blood cell (T cells) in the donated bone marrow or stem cells attack your own body cells. This happens because the donated cells (the graft) see your body cells (the host) as foreign and attack them.

Some people have a very mild form which doesn’t last long. For others, GvHD can be severe. It may even be life threatening in a few cases. Some people may have GvHD over many months, or even years.

Gene therapy may also be used for those with Krabbe Disease and is being explored as a possible treatment for Giant Axonal Neuropathy.

Gene therapy is an experimental technique that uses genes to treat or prevent disease. In the future, this technique may allow doctors to treat a disorder by inserting a gene into a patient’s cells instead of using drugs or surgery. Researchers are testing several approaches to gene therapy, including replacing a mutated gene that causes disease with a healthy copy of the gene.

The goal of gene therapy is to address a disease at the genetic level. Many different approaches are being studied, such as:

• Turning off genes that are causing problems
• Replacing a defective gene with a functional gene
• Adding functional genes to help do the work of a defective gene

Gene therapy adds functional copies of a faulty gene to a patient’s own blood stem cells. The functional copies of the gene are delivered into the patient’s blood stem cells outside of the patient’s body. This makes the gene therapy.

The gene therapy is then given to the patient via a Bone Marrow Transplant (BMT), also called stem cell transplant or hematopoietic stem cell transplant.  This takes place in an in-patient hospital setting. As part of the transplant process, the patient will receive chemotherapy to make room in their bone marrow for the gene therapy. After the gene therapy has been infused, the patient’s cells will need time to multiply and produce enough new cells with the functional gene. This process is called engraftment. The patient remains in the hospital until their immune system cells have recovered and their doctor determines that it is safe for the patient to be discharged.

Gene addition uses a delivery system, called a vector, to insert the new genes directly into cells. Vectors can be selected parts of viruses that have been genetically modified so they can deliver the new genes into the cells without causing an infectious disease. Viruses are used because they have a natural ability to deliver genetic material into cells.

Before a patient begins gene therapy treatment, copies of the functional gene are added to a vector (delivery system) that will carry the gene into the patient’s cells. The copies of the functional gene are the template (or instructions) the patient’s cells will use to create their own gene. This step is done in a laboratory.

Blood stem cells are collected from the patient. Blood stem cells can be collected from a vein in the patient’s arm using a special machine through a process called apheresis. For this process, the patient will first receive medicine to get more of the stem cells into the circulating blood for collection.

There may be some risks with the cell collection and the medicines received during the process. The patient should discuss these and all risks with their doctor. Stem cells can also be collected directly from the patient’s bone marrow through a process called bone marrow harvest.

The stem cell collection procedure used depends on the patient and the type of disease being treated. The collection process is performed in a hospital.

After the collection process is complete, the patient is discharged from the hospital.

The copies of the functional gene are then added into the patient’s blood stem cells that were collected to make the gene therapy. The cells that now have functional copies of the gene are referred to as gene-modified cells. After going through several tests to ensure that there are plenty of cells and it is ready for use, the gene therapy can be used in the patient.

The patient’s body is prepared to receive gene therapy using chemotherapy. This type of chemotherapy is administered in the hospital and may also be referred to as conditioning.

Chemotherapy is used for nearly all types of stem cell transplant. This process clears out the patient’s faulty bone marrow cells to make room for the gene therapy.

This helps the gene therapy engraft successfully and produce a robust number of new cells with copies of the functional gene.

There are serious risks with this type of chemotherapy, so the patient must remain in the hospital following chemotherapy until after the gene therapy has been infused and bone marrow cells and immune system cells have recovered.

After chemotherapy is complete and the patient is ready, the gene therapy is usually delivered by intravenous (IV, or into the vein) infusion. This is done at the hospital.

After the gene therapy has been infused, the patient’s cells will need time to multiply and produce new cells, so the patient’s body has enough cells with the functional gene.

This process is called engraftment. There is a risk that the patient’s cells may not multiply. This is known as failure of engraftment. If this occurs, the patient will be given unmodified backup or reserve cells to help them to form blood cells again.

The patient remains in the hospital until they have enough new cells, their key immune cells have returned to adequate levels, and their doctor determines that it is okay for them to be discharged. Until the patient’s cells have recovered, they will have increased risk for bleeding and serious infections. The patient should discuss these and all risks with their doctor.

After the patient is ready to be discharged from the hospital, they will require follow-up monitoring. To monitor gene therapy safety, how well the gene therapy is working, and to collect information that may help other patients who are considering gene therapy, follow-up may extend over a period of years. The extent and length of follow-up required for each patient will be determined by the patient’s healthcare team.

Please click here to be taken to YouTube for a video explaining Gene Therapy.

thegenehome.co.uk provides information and education about gene therapy and is intended for patients, caregivers, relatives and members of the public. thegenehome.co.uk describes what it means to have a genetic disease and how the different types of gene therapies available can be used to treat genetic disease. Gene therapy has the potential to treat many diseases, but the science behind it isn’t always easy to understand.

https://www.thegenehome.co.uk