My son has X-ALD
April 12th, 2003 |My son has been diagnosed with X-ALD, what do I do now?
What you do next is dependent on several things: whether or not your son has symptoms, the severity of the symptoms, and the age of your son.
If the diagnosis was made on the basis of a blood test only, then there are two more steps that you must take:
- He needs a brain MRI. This will help establish whether or not the disease has been or is active and will also serve as a baseline for all future MRI comparisons.
- He needs to be tested for adrenal insufficiency (Addison’s disease). This will consist of blood tests: an ACTH stimulation test and an aldosterone and cortisone level. Addison’s disease is life threatening since the body is not able to respond to stressful situations that occur with illnesses, accidents, etc. The adrenal glands may have become clogged with the fatty acids and cannot put out that additional adrenaline which makes our heart beat faster, tells the body that it needs to work harder, and when the stress continues, the body simply closes down systems and death occurs. This is easily controlled by taking a replacement (a pill) daily – and when sickness or stress occurs, the dose is immediately doubled or tripled.
This is also the time when you need to ask for a genetic consultation so that other family members who are at risk can be identified and tested – in other words, other children in the family may carry the disease gene too. And since mother is the carrier, her brothers and sisters and identified children in their families may carry the disease gene too.
Once you have all the above information, your next step will depend on whether or not your child is symptomatic.
It is rare for a child two years old or younger to be symptomatic and under the age of two, you can start to set some dietary habits that will promote healthy eating (ones that are also good for the entire family). You are going to limit the intake of fats to not more than 30% of the calories needed per day and you do this by restricting the intake of red meats. This means lots of chicken and turkey (skin and fat removed) and fortunately the stores now carry chicken and turkey hot dogs, burgers, cold cuts, etc. You may want to go to egg substitutes, 2% milk, broiling instead of frying, using one of the non-stick sprays such as Pam instead of butter, one of the low fat margarines, lots of fruits and vegetables, and candies such as jelly beans and gummy things rather than chocolate. The previous belief that everything must be peeled and the seeds removed is no longer true. The C26 fatty acid that these contain is in the peel and seeds and passes undigested as bulk through the intestines and helps with having regular bowel movements. A balanced diet is an absolute necessity for growth at this age and some fat is necessary. The American Heart Association has information and you are encouraged to also enlist the help of a dietician or nutritionist.
In the United States, at the present time, there is a research program for those boys who have no symptoms and are between the ages of 2 and 6 years old using a low fat diet and a special oil (Lorenzo’s oil) in an effort to better their chances of remaining symptom free during their childhood years. It is not a cure nor is it an absolute guarantee, but in previous studies, it did seem to increase the chances of a child if they started on the diet at an early age. If you are interested, please contact the Kennedy Krieger Institute in Baltimore, Maryland. The telephone number is 443-923-2750. The oil is available for those outside of the USA only with a doctor’s prescription, requires close monitoring on a monthly basis because of possible side effects, and must be combined with the diet. Please check out the page on Lorenzo’s oil by Dr Gerald Raymond for more information.
If your child is over the age of six (or if you do not wish to participate in the program), and your child does not show any signs of active disease. Then the following is recommended: a low fat diet as described for the child under two – limiting the amount of fat to 30% of the daily calories, a MRI every 6 months (if financially possible) and repeat test for Addison’s every six months.
If your child is symptomatic based on the MRI or on neurological testing, then you need to request that he be evaluated for bone marrow transplant. This treatment has stopped the degeneration if done early; however, it is a very risky procedure and there is the possibility that it will cause the disease to progress rapidly, and may even cause death. Hospitals that do bone marrow transplants have their own criteria for who is eligible or even whether this is a procedure that they feel qualified to do. Kansas, North Carolina, Texas, California, Minnesota, and Maryland are just a few of the states where the procedure has been done. The cost averages $250,000 and is usually covered by insurance or Medicaid. It has also been done by hospitals outside of the United States who are familiar with bone marrow transplants.
The alternative is one that no parent ever wishes to face and that is to treat the symptoms as they appear, knowing that ultimately there is premature death. The primary need is to have a network of help that you can call on as needed starting with a pediatrician whom you have faith in and who will respond to your needs. Along with that you need the special services available through school, a good neurologist, a physical therapist and occupational therapist, and neighbors and friends.
Remember that, regardless of the diagnosis, your child is a child and do not let this disease make him a “cripple” prematurely. Your attitude and the attitude of all those around him is so important. We know youngsters with ALD that play soccer and football – yes, the coach needs to know that you bring him out for extra water because of the risk of dehydration if he has Addison’s and that he is more susceptible to heat – but he needs to play. You can help by making sure that he wears a medic alert bracelet at all times so that in an emergency, additional medication can be given immediately.
You will also find that it helps the entire family to know other families who have had a bit more experience. So we would recommend that you join the United Leukodystrophy Foundation. This is an umbrella organization covering all the leukodystrophies (but the ALD/AMN families far out number). Through their magazine, scientific and parent conferences, and their ability to provide information and link up families, the nominal cost of membership is an excellent investment. Contact them at (800) 728-5483 or by e-mail via office@ulf.org
Many countries have X-ALD patient organizations that you may contact them for information:
France: l’Association Européenne contre les Leucodystrophies (ELA)
Spain: Asociación Española contra la Leucodistrophia
Germany: Bundesverein Leukodystrophie e.V.
Netherlands: Belangenvereniging X-ALD
United Kingdom: ALD Life
Australia: Leukodystrophy Support Group Inc
Belgium: ELA Belgique
Please let us know if we are missing a patient organization that should be included.
