For females, symptoms appear later in life than for males, and are less severe. Females do not develop the most severe forms of ALD (cerebral ALD or adrenal insufficiency). We have separate page here for females with the gene, and for males who have developed symptoms of cerebral ALD. Both males and females can pass the gene on to their children.
Alex TLC is Britain’s leading charity for 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 AMN.
Living with ALD is not easy, 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 they are there 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.
Of course, there is no right or wrong way of dealing with having asymptomatic ALD. But in researching this information we have spoken to many people who have the ALD gene, and we have put together some of the information they wish they had been given when they were first diagnosed.
What is ALD?
ALD stands for adrenoleukodystrophy. It is caused by a fault in a gene called ABCD1. For simplicity, we will call the faulty gene ‘the ALD gene’. ALD can cause several different conditions, which are described below. As we mentioned in the introduction, males and females are affected differently, and the information in this booklet only applies to males.
What is the outlook for males with asymptomatic ALD?
The good news is that being diagnosed with the gene as a child, before symptoms have appeared, gives young boys the very best chance of avoiding the most severe effects of ALD.
If you have been diagnosed as a teenager or adult, knowing you have the gene puts you and your doctors in the best position to look after your health as you move forward.
Males with ALD have the potential to develop one or more of the three conditions that are related to the gene. It’s not possible to tell in advance how any individual person will be affected.
A minority may not develop any problems, but unfortunately, almost all males with ALD will be affected in some way during their lifetime, often starting in childhood. Alex TLC has separate booklets for people affected by each of the conditions – you can find them on our website.
Monitoring
Boys with asymptomatic ALD need to be closely monitored for signs of cerebral ALD and adrenal insufficiency.
- Your son will have a magnetic resonance imaging (MRI) scan every 6 months between the ages of 3 and 12. After the age of 12 the risk of cerebral ALD is lower, and scans are only needed once a year.
- MRI scans are used to detect any changes in the brain that indicate active disease. If active disease was found, your son would need treatment in the form of a stem cell transplant or gene therapy, in order to stop the progression of the cerebral disease. There is more information about treatments here.
- Lorenzo’s oil used to be routinely prescribed for boys with asymptomatic ALD alongside a very low-fat diet. However, it is now not considered to be an effective treatment and is not routinely prescribed, the best course of prevention is to ensure that your child has their MRI scans every six months and that you are vigilant of any changing behaviours or symptoms which should be reported to your specialist without delay.
Adrenal insufficiency (Addison’s disease)
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.
Cerebral ALD
The most severe form of ALD is called cerebral ALD. ‘Cerebral’ means affecting the brain. Cerebral ALD is a disabling and eventually life-threatening condition in which reasoning, speech and mobility are gradually lost. If it is found early, before symptoms appear, it can be successfully treated, especially in boys.
Cerebral ALD in boys
Cerebral ALD can affect males of any age, but it is most common in young boys.
- There are no exact figures, but it is thought that about 35% of males with the ALD gene will develop cerebral ALD in childhood. If it is going to happen, cerebral ALD usually starts between the ages of 3 and 12.
- For boys, early treatment of cerebral ALD with a stem cell transplant (also known as a bone marrow transplant) or gene therapy is very successful.
- Your son will have regular MRI scans so that if early signs of cerebral ALD develop, they can be picked up quickly and treatment can be given. So, you are definitely in the best possible position to ensure early treatment if your son should need it. There is information about monitoring for boys with ALD further down the page.
Cerebral ALD in adult men
Cerebral ALD can also develop in teenagers and adult men, but this is much less likely. Again, there are no exact numbers. One study looked at a group of adult men with ALD for 20 years and found that 10% developed cerebral ALD during this time.
So far, treatment of cerebral ALD has mostly been carried out in children. A few adults have been treated, but this is an area where research is still going on.
Treating cerebral ALD
The most tried and tested treatment is a stem cell transplant. Previously, this was called a bone marrow transplant; the name change reflects an updated way of obtaining the cells from the donor, but the treatment for the patient is the same. Gene therapy is also in development, but has so far only been used in a few patients. At the time of writing, a clinical trial of gene therapy is in progress at Great Ormond Street Hospital. Initial results have been promising, but this is still an experimental treatment.
For either of these treatments to work effectively it is vital that changes in the brain are picked up at an early stage, usually before any physical symptoms of ALD have appeared.
A stem cell transplant involves using chemotherapy drugs to kill the patient’s own bone marrow, then replacing it with stem cells from a donor. The donor cells settle in the bone marrow and multiply, and some of them move to the brain. After a time, the healthy cells stop the process of nerve damage in the brain. However, there is a time delay, so the disease may continue to progress for the first year or so after treatment, although usually more slowly than if left untreated.
Transplant does come with risks, but we know many boys who have had a transplant and are living perfectly normal lives. The success rate is increasing all the time however, there is still a risk that boys who have had a successful transplant could develop AMN in adulthood.
Transplants in adults who are showing signs of cerebral ALD are not common, but practices are changing. All asymptomatic adults should be able to access yearly MRI scans if they want them.
The risks, procedure and follow-up treatments for transplants are improving all the time, so it would not be appropriate to discuss them in depth in this booklet. If there comes a time when you or your son needs a transplant, your hospital will give you the information you need. Find out more about bone marrow transplants.
You can also get support and advice from Alex TLC and from other families who have been through the process. You can also contact the Anthony Nolan Trust for more information about stem cell/bone marrow transplants.
What is AMN?
AMN (full name Adrenomyeloneuropathy) affects the nerves in the spinal cord that carry signals to the legs and lower body. Nearly all adult men who have the ALD gene will eventually develop AMN. AMN can start to appear any time from the late teenage years to around the age of 50. The majority of men will have adrenal insufficiency.
- The main symptoms of AMN are stiffness, weakness and pain in the legs. This starts gradually and progresses over time, leading to problems with balance and mobility. Most men with AMN will eventually need to use a stick or other device to help them walk. Some will eventually need to use a wheelchair.
- The nerves to the bladder and bowel can also be affected, causing urinary problems and constipation.
- There is no cure for AMN, but treatments are available to help with the symptoms.
How ALD is passed on: the genetics explained
There are a few important things to know about the ALD gene:
It affects males and females in different ways
It affects individuals in different ways
The chances of the gene being passed on to an affected person’s sons and daughters are known.
ALD is a X-linked disorder
The ALD gene sits on the X-chromosome. 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. Instead, they are said to be ‘carriers’. (Because the gene is so rare, it is extremely unlikely that a female would inherit it from both parents.)
Males who have the gene don’t have a normal X-chromosome to compensate, so they are at risk of being severely affected.
How ALD is passed on
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 be a carrier 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 be carriers, because fathers always pass their only X-chromosome to their daughters.
ALD affects people in different ways
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. These are usually mild. In extremely rare cases women are diagnosed with adrenal insufficiency. Females do not suffer from cerebral ALD.
Testing the rest of the family
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, he can be monitored (as described earlier on in this booklet). That way, he has the best possible chance of successful treatment if he does begin to develop cerebral ALD. He can also be monitored for adrenal insufficiency.
- It’s also important for female family members to be tested, because they could pass the gene on to their children. 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 a family member has a diagnosis of ALD. The genetic counsellor will talk you through who might be at risk, and the implications of the tests. Occasionally the genetic fault may start in the person who was diagnosed, rather than being inherited from a parent. This is called a “de novo” mutation, meaning a new mutation.
What do I tell my child and relatives?
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 absorb.
As there are no real outward signs of illness, it can be difficult to convey the seriousness of the condition to children, family, schools or workplaces. You need to find the right way to deal with this according to your own instincts and situation. Alex TLC can help you by putting you in touch with others in similar circumstances.
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 familiar and reassuring as possible while you begin to absorb the new reality.
With regard to telling an affected child, some people say honesty is the best policy, but others delay giving the child any details. 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. It may be necessary to explain why your child is suddenly having to attend numerous hospital appointments and this can be a very frightening time for them and you, the play specialist at your hospital will be able to help you to explain what the tests are and can help with any fears and anxiety.
Telling your school or workplace
Your school, college or workplace will need to know about your or your child’s diagnosis because you will need to take quite a bit of time off for tests.
For children, ask the school, especially the class teacher, to let you know if they witness any unusual behaviour – for example, if the child can complete a jigsaw puzzle one day but the next day, he can’t do it. This sort of incident could be a sign that symptomatic ALD is starting. Irrational behaviour, sudden bursts of temper, poor attention or difficulty understanding what is being said might also be signs.
If you or your child have adrenal insufficiency, you will need to inform your school or workplace.
- Clinical teams (Clinical Nurse Specialists) can liaise with schools to give a formal medical plan.
- Sometimes a child will need to take medication at school. This should not interfere with normal school life. Usually there are no problems, and you should find the school very helpful.
- In the workplace it is vital your employers are aware that you have adrenal insufficiency, in case of an accident.
- You should provide your school or workplace with written instructions about what to do if you were to have an adrenal crisis, including what to do if you had an accident. It is also useful to have an emergency injection kit kept at your school or college.
Helping a child come to terms with ALD
A male diagnosed with asymptomatic ALD may already have a brother with cerebral ALD, who was diagnosed too late for any treatment. This may make it difficult for the asymptomatic brother to come to terms with his own diagnosis. Males with asymptomatic ALD often experience feelings of guilt in this situation. Asymptomatic boys may also resent the attention that their affected brother receives.
If you feel that your child is struggling to come to terms with his diagnosis, it’s best to seek help quickly so that he can be supported. Contact either your GP or your consultant: they can refer you to services that can help.
- Play therapy can be very useful. It can be arranged through your school, your local hospital, or your GP.
- There are also specialist counsellors who can help children.
- When the boy gets older there are various organisations who can help him cope with his feelings. One of these is Young Carers.
Your feelings as a young male or adult man with ALD
The news that you have ALD is not easy to deal with. If you are struggling to come to terms with it, don’t suffer in silence. You can get in touch with others in the same situation through Alex TLC. You can also ask your GP or consultant to refer you to a counsellor.
Alex TLC are here to support you. We can help you to understand the condition step by step at your own pace. This is a really difficult time with lots of appointments, new medical words to understand etc. Our Support Services Manager can walk with you throughout this time and can help to explain everything in plain simple language. They can also attend appointments with you, and visit you at home. It can be really helpful to have someone who will listen to you, especially if you feel that you have to be strong and support an affected child and/or the rest of the family.
What financial help can I get?
For children
Children who have adrenal insufficiency are entitled to the lowest care rate of DLA (Disability Living Allowance). If the need arises for a stem cell transplant, their DLA will be increased to the highest component for both mobility and care, for the period they are incapacitated until they return to school. They will still be eligible for the lower care rate of DLA because unfortunately the transplant does not reverse adrenal insufficiency.
Children up to the age of 18 will also be entitled to receive grants from charities like the Family Fund Trust for special treats. If they have a stem cell transplant, they will also be eligible for help from Make A Wish and similar foundations, which provide holidays and special treats. They can also provide gadgets like laptops, which can be invaluable during the recovery period after the transplant.
Transplants can sometimes result in financial problems because one or more parents may have to stop working. The child will need someone in hospital with him all the time, as well as during his extended recovery period at home. There is help available –there is a list of organisations that can help at the end of this booklet. Alex TLC also provides grants for those going through the stem cell marrow transplant process.
You can find more on our Grant Programme Page on our website here.
For adults
Unlike children, adults with adrenal insufficiency do not qualify for PIP. However, you can get free prescriptions, even if you are working. For this you need a Medical Exemption (MedEx) certificate. To apply, ask for an application form FP92A, available from your GP surgery. The certificate is valid for 5 years and covers all prescribed medication, not just steroid medication.
You can find more on our Grant Programme Page on our website here.
Where to find help
These 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. Also, look out in your local library or online for a publication called Grants for Individuals In Need (www.grantsforindividuals.org.uk). This directory lists every relevant charity in the UK. Some charities require a referral from your social worker, but many will accept a letter from you setting out your case. We have listed some of the most useful organisations here.
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
Rights and benefits
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
Equipment and financial support
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
Focus on Disability
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.
https://www.focusondisability.org.uk/disabled-living-centres-index.html
Family Fund
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
Help for those going through stem cell transplant
Anthony Nolan Trust
Anthony Nolan provide match donors for people who need a blood stem cell, bone marrow or cord blood transplant.
www.anthonynolan.org
Tel: 0303 303 0303
Holidays & once in a lifetime experiences
Family Holiday Association
The Family Holiday Association provide grants towards a one-week holiday of the family’s choice. Referral needed from a health visitor or social worker.
www.familyholidayassociation.org.uk
Tel: 020 3117 0650
Dreams Come True
A national charity that makes dreams a reality for children with life threatening conditions.
Tel: 0800 018 6013
Email: info@dreamscometrue.uk.com
Make-A-Wish Foundation UK
The world famous Make-A-Wish foundation grants magical dream wishes to children aged 3 –17 who have life-threatening illnesses.
www.make-a-wish.org.uk
Tel: 01276 405 060
Email: info@make-a-wish.org.uk
Starlight Foundation
Another famous charity that makes dreams come true for terminally and seriously ill children.
www.starlight.org.uk
Tel: 020 7262 2881
Email: info@starlight.org.uk
Information Sources
- Orphanet J Rare Dis. 2012 Aug 13;7:51. doi: 10.1186/1750-1172-7-51. X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.
- Engelen M1, Kemp S, de Visser M, van Geel BM, Wanders RJ, Aubourg P, Poll-The BT.
- The Society for Endocrinology Adrenal Insufficiency Patient booklet 2016
- J Clin Endocrinol Metab. 1996 Feb;81(2):470-4.
- X-linked adrenoleukodystrophy is a frequent cause of idiopathic Addison’s disease in young adult male patients. Laureti S1, Casucci G, Santeusanio F, Angeletti G, Aubourg P, Brunetti P
- Engelen M et al. Orphanet Journal of Rare Diseases 2012;7:51.
- Ferrer I et al. Brain Pathology 20 (2010) 817–830
- Berger J et al. Brain Pathology 20 (2010) 845-856.
- The Society for Endocrinology, 2011.
Disclaimer
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