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.
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.
Living with ALD is not easy, but you are NOT alone. Alex, The Leukodystrophy Charity (Alex TLC) is Britain’s leading charity dealing with ALD in all its forms and is run by people who have been in the situation you are now facing and are here to help you. We also have a worldwide contact list of people who are willing to chat about all aspects of living with ALD.
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 firstname.lastname@example.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?
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. The genetic test can take up to six weeks to come back. 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).
Can symptomatic cerebral ALD be treated?
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.
My son has just been diagnosed with symptomatic cerebral ALD – what should I do?
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 do I tell my child, family and friends?
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.
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.
What about schooling, college and work?
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 multi-disciplinary team 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.
How is ALD inherited, and what are the implications for families?
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 can be predicted.
ALD is a X-linked disorder
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. 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 ALD 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.
- 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 with the ALD gene has a son, there is a 50% chance that the son will have the gene and could be at risk of severe effects, and a 50% chance that he will be unaffected.
- Very occasionally, in around 5% of all cases, instead of being inherited, the gene mutation happens while the embryo is developing. This is called a ‘de novo’ mutation.
- 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).
Genetic testing for the family: why is it important?
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.(link to female carriers leaflet) 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.
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 for many years, then develop AMN as adults. Some males develop adrenal insufficiency (Addison’s disease) rather than ALD or AMN. It’s very important that all males with the gene go into a prevention programme, where they have regular check-ups to detect symptoms early and get treatment. Most females with the gene will develop some AMN symptoms later in life, these are usually mild although some women will be more severely affected.
What medical support will we have?
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 find out more about condition management here.
Muscle Spasms and seizures (fits)
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, pneumonia and vaccinations
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.
Swallowing and feeding
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.
How do I get help with care?
Looking after a disabled patient is very exhausting and you simply cannot do it all on your own. It is important for you to have a life yourself. You would not normally be with your loved one 24 hours a day. It is also important for their social and psychological wellbeing that they are introduced to other people. The rest of your family will also still need to be looked after. If you have other children, they may feel neglected if you don’t devote some of your time to them, and your home will still need to run. Some families don’t need outside help if they have a network of family or friends to call on. If you are not in that position, you need to turn to social services, and make sure they provide a care package where people come into your home to help you look after your loved one with ALD. Your carer can have whatever role you require. Perhaps getting the patient up and looking after him while you get your other children to school. Or perhaps providing cover so you can get time to go out during the day or helping to feed him in the evenings. Maybe the patient regularly wakes in the night and you need someone to be with him, so you can get a good night’s rest. Once you have been allocated carers you will need to learn how to cope with having strangers in your house.
You need to learn how to effectively ask social services for what you need and how to reject unsuitable people. You are the one in charge of looking after your loved one. You must have a team you are comfortable with and who will work to the system and methods that are best for your family. One of the key things to make social services realise is that if they are going to give you a care package, it has to be made up of people who come to help you regularly and have a vocational interest in looking after the patient. Both you and your loved one need to feel comfortable with them. Some carers are fantastic, but some are not. The process of getting the right people in can take some time, and there may be a period when it will be difficult. Be persistent in dealing with the situation and you will get the right care eventually.
Your loved one may be eligible for NHS Continuing Health Care (CHC), this is a service provided by the NHS and is for people with complex health needs, if your family member is an adult it means that your care will be provided with no cost to them, whereas adults being provided with care through social services may have to contribute to the cost of their care. Care for children is free of charge from both social services and NHS.
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.
What Benefits are we entitled to?
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.
It is very difficult for brothers and sisters to continue life as normal and accept what is happening. It is normal for siblings to have immense feelings of guilt about the situation, they feel jealous that they are not getting the same amount of attention as their sibling which in turn makes them feel more guilty. It is so important to try to spend time with your other children and talk to them about any worries they may have. They will be frightened too and may need some help with coming to terms with their brother being ill. 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.
Your family, your decisions
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.
What are we entitled to?
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.
Where can I get more information?
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 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
Where to find more 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 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
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.
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
Assist UK has a network of local disabled living centres. Each centre includes a permanent exhibition of products and
equipment that you can see and try.
Tel: 0161 850 9757
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
The motability charity helps provide wheelchair adapted cars, powered scooters and powered wheechairs for disabled people in the UK.
Tel: 0300 456 4566
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