This leaflet is for you if your child or relative has been diagnosed with symptomatic cerebral adrenoleukodystrophy (ALD). This rare genetic illness most notably affects boys aged 4 to 10, but can also affect older boys and adult men.
In researching this leaflet, we have spoken to many parents whose sons have symptomatic cerebral ALD. Much of the information is therefore based on experience. Of course, there is no right or wrong way of dealing with having symptomatic cerebral ALD, but we hope the information will be useful for you. The medical information has been carefully compiled from reputable sources and has been reviewed by specialist doctors.
Alex TLC is Britain’s leading charity for leukodystrophies including ALD and AMN. It is run by people who have been personally affected by the conditions, either themselves or in their families, and are here to help you. Alex TLC provides practical, emotional and financial support for all those affected by ALD and AMN. We also have a worldwide contact list of people who are willing to chat about all aspects of living with ALD and can find out more here.
Living with a progressive degenerative disorder like symptomatic cerebral ALD is very difficult, but you are NOT alone.
Finding out that you or a loved one have a serious genetic condition can be devastating news. You may be feeling a whole mix of emotions, and probably feel very confused and fearful about what it all means. You will also have several appointments to attend and meet new professionals which can be daunting, but we are here to help you.
Alex TLC can support you by email, phone, home visits, or through the information on our website. You can contact us on 020 7701 4388, or email info@alextlc.org.
Adrenoleukodystrophy (ALD) is caused by a genetic fault. Affected people are unable to process natural molecules called very long chain fatty acids (VLCFAs). Instead of being broken down, VLCFAs accumulate in the body and destroy the sheath that covers the nerves. Made of a substance called myelin, the sheath is like the coating around an electric cable. It allows signals to travel along nerve cells. Without it, nerves can no longer function properly.
The gene at fault in ALD is called ABCD1. For simplicity we will refer to the faulty version as the ‘ALD gene’. The gene can cause several related but different conditions, and it is impossible to predict how it will affect any one person. However, males are more severely affected than females.
This leaflet is about symptomatic cerebral ALD, which is the most devastating form of ALD and only affects males. We also have leaflets on asymptomatic ALD (for males with the gene who do not yet have symptoms), and adrenomyeloneuropathy (AMN), a condition that affects nerves in the spinal cord and body.
In cerebral ALD, the damage to myelin happens in the brain. The nerves in the brain no longer work properly, and the boy’s physical and mental abilities begin to deteriorate. As the disease progresses, functions like reasoning, speech and mobility are lost. Eventually, affected boys become completely dependent.
Cerebral ALD is usually diagnosed by a Magnetic Resonance Imaging (MRI) scan, and a blood test to check VLCFA levels. High levels of VLCFAs, along with damage to the white matter in the brain, are good indicators that cerebral ALD is present. Diagnosis is confirmed by a genetic test. Once diagnosis is confirmed, the affected boy’s condition is closely monitored.
If the ALD gene is found, close family members should be offered urgent genetic testing. There is more information about family testing later in this leaflet. If the gene is discovered early, before symptoms appear, there is a chance of preventing symptomatic cerebral ALD from developing. This would involve being put on a programme of surveillance including Magnetic resonance imaging (MRI) scans every six months, neuropsychology tests and checks on adrenal function. You can find more information on our Males with Asymptomatic ALD leaflet.
In most males with ALD, the adrenal glands are also affected. The adrenal glands make steroid hormones. Poor functioning of these glands is known as adrenal insufficiency (or Addison’s disease).
Sadly, there is currently no treatment for cerebral ALD once it has begun causing symptoms. Doctors have not yet found a way to stop the deterioration once it takes hold. However, if the disorder is detected in the very early stages, when few if any symptoms are visible, it may be possible to stop it progressing.
Medical guidelines say that on average, boys with symptomatic cerebral ALD live for 2 to 4 years. But many boys have gone on to live for longer periods. There are boys with the condition who are living into their teens and early 20s with quality of life.
It is the most devastating news anyone can imagine, and there is no right or wrong way of dealing with it. Alex TLC was set up to offer support and advice to those facing the isolation of a symptomatic cerebral ALD diagnosis. The rest of this leaflet offers practical advice from parents, relatives and carers who have been through this experience and gives more information about ALD and how to access the support you need from health and social services.
You can contact us through our Support Services link.
We know just how hard it is when your loved one is diagnosed with symptomatic ALD, but it is so much better for him if you can stay positive which we know is so difficult when you feel like your world has been torn apart. At the beginning a good piece of advice is to try and keep life as normal as possible, this can help the whole family. Have special days out as a family and maybe organise the trip of a lifetime organisations such as Make a Wish or Dreams Come True can help with arranging this.
How will my son’s condition progress?
Unfortunately, symptomatic cerebral ALD is a progressive condition, and almost all affected boys will eventually deteriorate into a dependent state. As the disease progresses, functions such as reasoning, speech, mobility and vision are lost. The time course is different for each individual, and can’t be predicted in advance. Some boys will continue to walk and talk for several years, while others will deteriorate into the dependent state within a few months of diagnosis. Deterioration can happen very suddenly and quickly. It is a cliché, but the only way forward is to take each day as it comes.
For a very small minority, progress of the disease can stop. This is called ‘arrested ALD’. Doctors don’t know why this happens.
What you tell your child and those around you is your personal choice. You know them best and know what they can and can’t cope with. With regard to telling the affected child, some people say honesty is the best policy, but others delay telling the child exactly what is wrong with him. You may find it best to start by simply giving the illness a name. Our experience is that most children seem to take what you are telling them quite matter-of-factly. Children can be incredibly resilient, while adults struggle far more. Sometimes it may help (with your permission, of course) for a member of the medical team to break the news.
We created a Children’s Book to support the siblings of children diagnosed with childhood cerebral adrenoleukodystrophy (CCALD). The primary goal is to support children and their families to build emotional resilience, and openness to talk and ask questions about a diagnosis of CCALD. It can also be shared with family members, friends and schools to help explain the condition and it’s impact on your family. The book is free to access and is available both electronically and as a hard copy. To find out more, visit our Children’s Book for ALD page.
One of the slight blessings of this condition is that as it progresses, the patient experiences dementia-like behaviour, so it is likely that he won’t fully comprehend what is happening to him. So, you don’t need to let him know the full extent of what is going to happen. And because of the illness, he won’t take in everything you are telling him.
There is a lot happening at this time and dealing with the reactions of other people can sometimes be quite traumatic. You may want to tell a few friends and let them spread the word to other people. It helps to try to keep to familiar routines, keeping life as normal and reassuring as possible while you begin to absorb the new reality. Although things won’t necessarily get better, many people find that with time, the situation does become easier to live with.
At the end of this leaflet you will find details of organisations dedicated to supporting families with severely ill or disabled children.
You will need to talk to your son’s school about continuing his education. Some schools are very supportive, while others may find the situation too difficult to cope with. When a boy with symptomatic cerebral ALD starts to deteriorate, it can be quite traumatic for his school friends. Although we hear wonderful stories of some mainstream schools that will keep the child for the whole time, he will usually need to move on to a special needs school.
Again, it is an individual decision. Some parents want to take their son out of school as soon as possible, while others want him to stay at school with his friends for as long as he can. The healthcare professionals who are dealing with your son’s care will be able to guide you.
There are also special educational needs colleges which your son may be able to access this will be discussed when you start to transition from children’s to adult services.
If you are an adult and are working your employer must make necessary adjustments to enable you to continue to work for as long as you can.
There are a few important things to know about the ALD gene:
The ALD gene sits on the X-chromosome (ALD is sometimes called X-ALD). Women have two X-chromosomes, whereas men have an X and a Y. We inherit one of these chromosomes from each parent.
A female who inherits an X chromosome with the ALD gene also has a normal X-chromosome from her other parent. This partially compensates for the genetic fault, so females do not experience the most severe forms of ALD. (Because the gene is so rare, it is extremely unlikely that a female would inherit it from both parents.) Women can pass the gene to their children, hence why the term ‘carrier’ is sometimes used. However, we now know that the ALD gene does cause effects in many women, therefore, we refer to females as ‘females with the ALD gene’.
Males who have the ALD gene don’t have a normal X-chromosome to compensate, so they are at risk of being severely affected.
The diagrams below show how the ALD gene is passed on. X-chromosomes with the ALD gene are shown in red.
From women
When a woman with the ALD gene has a daughter, there is a 50% chance the daughter will have the ALD gene and a 50% chance she will be unaffected (i.e. free of the gene).
When the woman has a son, there is a 50% chance that he will have the gene and be at risk of severe effects. Because fathers don’t pass their X-chromosome to their sons, males have usually inherited the gene from their mother.
In rare cases, instead of being inherited, the gene mutation happens while the embryo is developing. This is called a ‘de novo’ mutation.
From men
If a man with the gene has children, all of his sons will be free of the gene, because sons always get their father’s Y-chromosome, not the X.
All of his daughters will have the ALD gene, because fathers always pass their only X-chromosome to their daughters.
For reasons we don’t understand, the ALD gene affects people in different ways. Some males develop cerebral ALD as boys. Others have no symptoms in childhood, then develop AMN as adults. Some males develop adrenal failure (Addison’s disease) in addition to cerebral ALD or AMN.
About 80% of females with the gene will develop some AMN symptoms later in life. Symptoms can vary in severity. In women, the development of either cerebral leukodystrophy or adrenal insufficiency is extremely rare –and has only been described in a very few isolated cases.
When a member of the family has been diagnosed with any form of ALD, it is very important for the rest of the family to be tested in case they also have the gene. This is especially important for young boys.
If the gene is discovered before a boy gets symptoms, there is a good chance that symptomatic cerebral ALD can be prevented. This is because the condition is treatable in its very early stages.
It’s vital that boys with the gene have regular checks, so that if cerebral ALD or primary adrenal insufficiency (Addison’s disease) develop, they can be detected in time for treatment. See Males with Asymptomatic ALD for more.
It’s also important for female family members to be tested, because they could pass the gene on to their children and may suffer from mild symptoms later in life. See Females with the ALD gene for more. Girls are not usually tested until they are old enough to consent to the test independently (age 16+). You should be offered genetic counselling as soon as the diagnosis has been confirmed. The genetic counsellor will talk you through the implications of the tests.
The majority of males with the ALD gene will develop primary adrenal insufficiency, also known as Addison’s disease. Adrenal insufficiency is when the adrenal glands do not produce enough of an essential hormone called cortisol. If it is going to happen, it usually develops before the legs are significantly affected. It is unusual for men with AMN to develop adrenal insufficiency once they have spastic paraparesis in the legs.
Symptoms include chronic fatigue, lethargy, muscle weakness, weight loss, and difficulty recovering from normally mild infectious illnesses. Affected people often become ‘bronzed’, i.e. progressively darker skinned, sometimes with darker than normal creases on the palms of the hands.
With adrenal insufficiency you can become extremely unwell very quickly if you get a viral or bacterial infection. A minor viral infection may result in severe vomiting which can lead to dehydration and potentially dangerous changes in blood salts. This can also happen if you get very stressed, for example by unusually heavy exercise. If untreated, adrenal insufficiency can lead to a life-threatening condition called ‘adrenal crisis’.
Adrenal insufficiency is easily treated by taking steroid tablets (hydrocortisone with or without fludrocortisone) to replace the missing hormones.
If you are diagnosed with adrenal insufficiency you should be given a kit containing an emergency hydrocortisone injection. Your partner, friend or relative will be trained to give you the injection if you are not retaining your hydrocortisone due to vomiting or diarrhoea.
It’s important that people with adrenal insufficiency are identified immediately if they come into contact with medical services. Your endocrinologist should give you a letter to show at Accident and Emergency so that you get seen immediately if you need to visit.
It’s also advisable to inform your local ambulance service, so that they are aware that you need to be prioritised if you call 999 – ask your endocrinologist or GP how this works in your area. Most ambulance services carry the correct medication. If not, they can administer your own emergency injection as long as it’s in its original box with the directions clearly shown.
You should also wear a medical identity bracelet or necklace saying that you have adrenal insufficiency. That way, if something happens while you are alone the medical services will be alerted to your condition and be able to treat you properly. You can buy these online – just search for ‘medical ID jewellery’.
The Addison’s Disease Self Help Group is an excellent organisation with medically checked information on managing the condition. You can also find out more about the condition on our Addison’s Disease page.
You can find out more about condition management here.
Males with symptomatic ALD face many of the same problems as any patient with chronic disabilities. Muscle spasm is a typical symptom of ALD and can be very painful, so the patient will need regular physiotherapy and sometimes body bracing and splints for the feet. It is very important to keep the muscles moving to help with muscle spasms, so you will
need to learn to give physiotherapy. There are also drugs that can be taken for muscle spasm – your neurologist will help with medicines to treat these symptoms. In extreme cases Botulinum toxin (Botox) injections can help.
Having fits is another problem males with symptomatic ALD may face. Some have a lot of fits while others don’t have many. Anti-convulsant medications are used to help to control seizures and you should always seek medical attention if you think that the person has had a seizure.
Chest infections are common and patients with symptomatic ALD are also at risk of pneumonia. However, you may be able to reduce this risk by ensuring that your son is given a pneumococcal vaccination which can help to reduce the risk of pneumonia cause. He should also have the annual flu jab. Some boys may also benefit from regular preventative antibiotics during the winter if they tend to get recurrent infections. Also, please try to make sure that you, the rest of your family and your helpers all have the flu jab too.
Eventually the patient will most likely become incontinent; with the help of an incontinence assessor from your Community Health team, you will need to look at options to deal with this.
Alternatives are using pads (nappies), urinal sheaths (Conveens) are often preferable as they reduce the number of times that the patient needs to be changed. Catheterization may be an option and is more usual for adult males but can carry a risk of persistent urinary infection.
The community health team will organise things like regular delivery of incontinence products to your home.
If you notice that chewing and swallowing are becoming a problem or that it is taking a long time for the person to finish their food then you should seek help without delay as at some point the patient will deteriorate to the point where he will not be able to swallow properly and could be at risk of choking and aspiration pneumonia This is where food and liquids do not go into the stomach but instead go into the lungs and cause infection which can be very serious.
At this time, you will need to start thinking about feeding tubes and alternative methods of communication.
There are several forms of tube feeding and the Community Health Service will guide you through the options. Most males with symptomatic ALD will eventually
have a gastrostomy put in. This is a small operation to insert a feeding tube directly into the stomach. The alternative is a nasogastric tube (NG tube), but most people tend to prefer gastrostomy because nasal tubes must be changed often and can easily be pulled out.
A dietician will work out the correct amount of feed that is required and will arrange for the supplies to be delivered to your home. They will also monitor the patient’s weight and make sure he receives the correct nutrition and the right amount of water. Some males develop chronic wind problems when they start tube feeding. This is not easily treated through medication and many try different options such as positioning, natural remedies and opening the gastrostomy tube (venting) to release excess air. A device called a Farrell valve can also be used to assist with this problem during tube feeding; many report that this is very effective.
You can still feed the patient orally while they have a feeding tube. This will be monitored by a speech and language therapist, who can also help with communication. Saliva control and the build-up of thick mucus secretions can be a huge issue in the care of someone with symptomatic ALD. There are various methods that can assist with this from medication to physiotherapy and, for more severe cases, Botulinum Toxin Injections and radiotherapy. A physiotherapist and/or speech and language therapist will be able to advise on the best treatment.
As deterioration continues, you will be contacted by an Occupational Therapist who will look at your housing situation, whether your home is suitable for adaptation or whether you need to perhaps move to a new house or build an extension, depending on your circumstances. A grant from your local authority called a Disabled Facilities Grant should be available to help with the cost of having adaptations to your home. Because the patient’s ability to move will deteriorate, he will eventually reach the point where he will not be able to bear his own weight. There will come a time where you will need an electric-powered hoist for him to be moved into the bath, into bed or into his wheelchair. You will also need an electric powered fully-profiling bed, which should be provided by Community Health. Or there are grants available from various charities to help you purchase one if you prefer. Because the patient will be immobile, you need to be able to help him change position in bed to help his breathing and to avoid pressure sores. Community Health will also be able to provide you with a special pressure reducing mattresses. You can find out more about equipment here.
Hospices offer expert advice on symptom management and can offer respite care either at the hospice or in your own home. Respite can offer you and your family a break from your caring responsibilities knowing that your loved one is being well carer for. You can either contact your local hospice direct and refer yourself, or you can ask your social worker to refer you. Respite care does not suit every family. It is a personal choice, but it’s an option you should perhaps try to give you, your family, and your loved one a break.
We all fear something untried and untested, but once they have tried respite care, many wonder why they had not done it sooner.
Hospices sound like scary places but they are actually very positive environment especially Children’s hospices and it doesn’t mean that your family member is at the end of their life. Children’s hospices normally have family rooms where you and the rest of the family can stay and have time together perhaps enjoying the facilities there which often include a hydrotherapy room and sensory room. Children’s hospices normally have sibling groups which are beneficial in helping your other children feel less isolated. Adult hospices also have counselling services which families can access.
This is a very frightening time, but your medical team, your community health team and other services – including Alex TLC – are here to support you and help you through it. However, getting the right help is not always easy. You will need learn to weave your way through the maze of health and social services to get the help you need.
At first, contact from multiple different professionals can feel overwhelming. All of them will tell you what they think is best. But over time, you will become an expert in your own situation. You will become your child’s best advocate, because you will be the one who best understands his individual needs. You will need to develop the confidence to weigh up what the professionals say and decide what is right for your family. In the end, you will be the ones who make the decisions. Our Support Services team can help you with these decisions as we have a vast knowledge of what works for families.
If you have never accessed benefits before, you may not be aware that you may be eligible for financial support from the government. Such as Disability Living Allowance (DLA), Personal Independence Payment (PIP) and Carers Allowance. If you already receive some benefits, your diagnosis or the diagnosis of someone you care for may mean you are entitled to further support. Find out more about Benefits and Grants here.
We created a Children’s Book to support the siblings of children diagnosed with childhood cerebral adrenoleukodystrophy (CCALD). The primary goal is to support children and their families to build emotional resilience, and openness to talk and ask questions about a diagnosis of CCALD. The book is free to access and is available both electronically and as a hard copy. To find out more: Children’s Book for ALD
Counselling is normally available at your local hospice for both children and adults. Play therapy and other forms of counselling to help children deal with what is happening can be offered. The older a child gets the more difficult they tend to find it, as they become more aware of what is happening to their sibling, try to always listen to their concerns and seek help for them sooner rather than later. Alex TLC holds a family weekend every two years and this is a great way for siblings to get together, have fun and helps them to realise that they are not alone in having a brother with ALD.
Although people are supposed to come to you and offer you the services you need, we find from experience that it doesn’t always work that way anymore. You need to actively ask for the help you need and are entitled to.
On diagnosis, the hospital should put you in touch with social services and you should be assigned a social worker. In theory, a social worker should visit you to talk about the benefits you are entitled to. They should also liaise with community health and occupational therapy to ensure you get the services and equipment you need.
You can get in touch with others in a similar situation and receive practical information, support and advice from us at Alex TLC. We also run an annual event which brings together families and individuals suffering from all aspects of living with the ALD gene to share experiences and learn about innovations in treatment and research.
Alex TLC was founded by Sara Hunt after both her sons were diagnosed with cerebral ALD. Our full time Support Services Manager provides practical, emotional and advocacy support to people and families affected by leukodystrophies including ALD and AMN. The charity also has a Grant scheme that can help with purchasing equipment that is not available through the statutory services, and can help with financial difficulties faced due to bone marrow transplant and bereavement.
Tel: 020 7701 4388
Email: info@alextlc.org
There are many charities that help people in your situation. Your social worker or occupational therapist should be able to give you a list of organisations you can apply to.
Please look on our useful links page for other organisations who may be able to help.
Carers Trust
Carers Trust is the largest provider of comprehensive carer support services in the UK.
It runs a network of 144 independently managed Carers’ Centres and provides quality information, advice and support services to over 400,000 carers.
Tel: 0844 800 4361
Email: info@carers.org
Citizens Advice Bureau
Free information and advice on legal and money problems and can help you if you experience problems with benefits or housing. Your local branch can be found on the national website.
Directgov
Government website for information about benefits and entitlements
Disability Rights UK
Provides advice and support for disabled people on a wide range of issues from claiming the right benefits to employment and independent living.
Ground Floor, CAN Mezzanine, 49-51 East Rd London N1 6AH
Tel: 020 7250 8181
Email:
Disabled Living Centre (DLC)
A Disabled Living Centre (DLC) is where you can get free and impartial information and advice about products and equipment for disabled or older people. At a DLC you can see and try out products and explore other solutions. Centres provide free information to people in person, by telephone, letter or email.
Disabled Living Foundation
National charity that can help you find products and suppliers of equipment for disabled people. Also has an equipment demonstration centre.
Helpline: 0300 999 0004
Email: helpline@dlf.org.uk
Turn2us Grant Search
Turn2us grant search is an online tool which allows you to search for grants you may be eligible for. Visit Turn2us Grants Search to use the search engine.
https://grants-search.turn2us.org.uk/
Family Fund
Family Fund is a charity that provides grants and support services for families raising a disabled or seriously ill child or young person on a low income across the UK.
Motability Scheme
The motability charity helps provide wheelchair adapted cars, powered scooters and powered wheechairs for disabled people in the UK.
Tel: 0300 456 4566
If you need this practical information page printed out, we can print and send it to you, email us at info@alextlc.org
All the medical information on this site has been checked for accuracy by Alex The Leukodystrophy Charity (Alex TLC) board of medical experts but does not replace advice given from medical professionals involved with your care. Medical opinion should always be sought. The information is for general use only and is not intended to provide personal medical advice or substitute for the advice of your physician. Medical information changes rapidly and whilst Alex The Leukodystrophy Charity (Alex TLC) make every effort to update the content of the site, some information may be out of date. Remember to always seek the opinion of a medical doctor.
There are a number of links from this website to sites maintained by third parties. These links are provided purely to assist you, and in good faith. The presence of a link does not necessarily imply that Alex TLC endorses or supports those third parties.
Alex TLC cannot be held responsible for any damage or loss caused by any inaccuracy in this site, or in linked sites/pages
