Living with Adrenoleukodystrophy

In the November of 2009, Dr. Patrick Aubourg and Nathalie Cartier used gene therapy successfully on a two 7-year old boys suffering from Adrenoleukodystrophy in France. Though they are now leading stable lives, it is important to know about the ways in which one might deal with the situation. One of the rare forms of genetic disorders, Adrenoleukodystrophy has been found to affect children in the age group of four to ten years rendering them with a life expectancy of 2-5 years. Though treatments have been found to slow down the progression of Adrenoleukodystrophy significantly, no permanent cure has been found for the disease.

Living with Adrenoleukodystrophy can be tough both for the child and the parents. Managing a progressive disorder is often very difficult and that too when there are so many varied symptoms and there isn’t any definite cure available to treat the condition. The type of medical attention that one might receive for Adrenoleukodystrophy varies according to the type of the disorder with which they are affected.

• Addison’s disease is generally cured by a combination of steroids while the other forms of the condition have no hard and fast treatment methodology.
• While some people opt for a diet low in VLCFAs, others prefer a dose of Lorenzo’s Oil to reduce the levels of VLCFA.
• Focus is also laid on relieving the symptoms such as seizures and physical spasms with the help of medication and therapies.
• Stem cell transplant might also be considered as an option to slow down the progression of the condition if it is diagnosed and treated at the initial stages.

Certain researches are being conducted to devise other treatment methods to overcome the condition of Adrenoleukodystrophy.

• Mucomyst and Stem Cell Therapy for Adrenoleukodystrophy: The use of Mucomyst (Acetylcysteine) has been found to reign in the neurological decline at the advanced stages of adrenoleukodystrophy, thus, stabilizing the condition. Stem cell transplant thereafter has shown improved results.
• Mesenchymal Stem Cell Therapy to Treat Adrenoleukodystrophy: Mesenchymal stem cells are cultured from an adult bone marrow and have the potential to cure the condition of adrenoleukodystrophy if injected into the spinal cord, blood or brain of the affected person directly.
• Adrenoleukodystrophy Upregulation: This includes bringing about an increase in the activities of the normal gene so as to reduce the effects of the mutated gene, thereby, leading to an improvement in the condition.
• Myelin Restoration for Adrenoleukodystrophy: This includes therapies and medications that might actually restore the degenerated myelin, thereby, leading to an improvement in the condition.

These therapies are yet not confirmed to provide complete cure to the disease; however, if they prove to be one, then the lives of patients suffering from adrenoleukodystrophy and their parents would be easier.

Gene therapy has been widely acknowledged as being one of the most effective treatments for adrenoleukodystrophy. This is an autologous transplantation procedure that involves placement of the corrected genes in the system of the affected person with the help of their own stem cells instead of using a donor. In this process, the stem cells are first removed from the adrenoleukodystrophy affected person and are re-implanted after injecting the corrected gene sequence containing the proper ‘blueprints’ into the cells. The repaired cells, thus, begin producing the adrenoleukodystrophy protein that had been absent or been present in the defective form prior to the condition. This, in turn, halts or reverses the condition to a certain extent.

One of the major advantages of using autologous gene therapy for treating adrenoleukodystrophy is that the affected person is the self-donor. This means that the complications and the risk factors that might arise on using another donor is either completely negated or reduced to a significant extent. The results of gene therapy are more or less similar to that of stem cell therapy with fewer risk factors. However, the drawback of this therapy is that the treatment is effective only if it is administered prior to the onset of the disease or at the initial stages. This treatment does not yield results for people with significant disease progression.

Being parents or guardians to children diagnosed with adrenoleukodystrophy is perhaps one of the most devastating experiences that they might live through. Life expectancy of children affected with adrenoleukodystrophy is about 2-4 years. However, there are cases where the affected child has been found to lead lives in the teens or early twenties leading a quality life.

It is important to go for a genetic examination for the entire family once a member has been diagnosed with adrenoleukodystrophy. This leads to significant reduction in the risk factors. If a family member is found to carry mutated gene, preventive measures can be taken so as to prevent the onset of the disease. It is important not to isolate the affected child and let them carry on with their social life. It is also not possible for a single person to do all the work on his/ her own. It is, therefore, best to seek the help of your family and friends and in case they are not available, it is best to approach professional help especially for adrenoleukodystrophy patients.

There are certain ways in which parents can help their children diagnosed with adrenoleukodystrophy-

• It is best to limit distractions in his surroundings such as the volume of television, radio etc.
• Cues such as verbal reminders, picture cards etc. can be used in daily routine life to remind him to do a particular task.
• You could also consider breaking down the steps of each task and make your child concentrate on one step at a time.

You could also consider Respite Cares as an option if you need a place to keep your child for some time. It also needs to be remembered that just because a child is diagnosed with adrenoleukodystrophy, he does not have to lead a life devoid of activities, outings, celebrations or the like. It is best to plan activities where the affected child will be able to take part and enjoy equally. It is important to go about life as normally as possible. Opting for counseling sessions can also be considered to deal with things in the best possible manner.

Children affected with adrenoleukodystrophy might need to attend a separate school meant for children with special needs. However, there have been cases where mainstream schools have been found to be extremely supportive and have provided enough support to affected child to continue with mainstream education.

Dealing with peers will also not be easy for children suffering from adrenoleukodystrophy. The friends and peers of the affected child may be too traumatized to actually support the adrenoleukodystrophy patient as they might not have seen something like this before. It is, therefore, best to explain the entire situation to them so that they can better comprehend the situation and can help their affected friend in a better manner.

Living and coping with Adrenoleukodystrophy is not easy. One needs to have a lot of patience and positive outlook in order to deal with the situation. Though complete cure for Adrenoleukodystrophy has not been found, it is possible to halt and slow down the progression of the disease if diagnosed at the earlier stages. Though the situation is devastating as a parent or guardian, it is nonetheless important to carry on with life as normally as possible.

Also Read:

• Adrenoleukodystrophy: Types, Causes, Symptoms, Treatment, Prognosis