Nobody knows

Hello to you all.My name is Anastasia and im from Greece.My daughter Ismini is 33 years old and for 8 almost years was diagnosed with ms.Two months ago we changed her doctor and last week we found out that she has x-ald.I'm desperate.She is disablend and she can not eat or drink water without choke her self .No one knows here anything about it.About therapy -clinical test -diet. Nothing. I start thinking maybe is better for her to travel in States? I really dont know.So ....please if you have any information for ald if someone here is a doctor or knows a doctor for ald to contact to please help us.

I'm sorry for any mistake's in my writing.My english is all i can remember from school.

with friendly regards


Anastasia, I am sorry to hear about your daughter. This must be a very difficult time for you and your family. I will see what I can find about doctors in Europe who are familiar with x-ald. Here is an article that may be helpful about women with x-ald:

Here is a summary of treatments of x-ald:

  • Adrenal steroid replacement therapy is mandatory for those patients that have adrenocortical insufficiency (Addison’s disease), and may be life saving, but it has no effect on neurological symptoms.
  • Hematopoietic stem cell transplantation (HSCT) has been demonstrated to be successful in arresting disease progression in a small subset of young, pre-symptomatic patients with demonstrable early signs of cerebral demyelination.
  • Lorenzo’s oil does not alter the clinical progression of patients with neurological symptoms.
  • Lovastatin was demonstrated to have an effect on VLCFA. This finding, however, could not be reproduced by others. Later experiments showed that statins had no effect on brain and adrenal VLCFA levels in X-ALD mice, and even caused accumulation of VLCFA in these tissues. Because of these conflicting results, a randomized double-blind placebo-controlled clinical trial to test the effect of lovastatin as a VLCFA lowering therapy for X-ALD has been performed at the Academic Medical Center in Amsterdam. The results and conclusions have been published in the New England Journal of Medicine (Engelen et al, 2010). The authors demonstrate that lovastatin treatment results in a small decrease in plasma VLCFA, but it has no effect on VLCFA levels in red and white blood cells.
  • Drs Nathalie Cartier and Patrick Aubourg and colleagues (Saint Vincent de Paul Hospital, Paris, France) have successfully treated two 7-year old boys with early signs of cerebral ALD using gene therapy (Cartier et al. 2009). Brain MRI scans and cognitive tests showed that progression of the cerebral disease stopped after 14-16 months.

Perhaps you could contact the doctors in Paris?

I should mention that I am not sure which treatments, if any, would be helpful for an adult female.

thank you so much for your respons and your help my friend.i wiil check out the article and the other information that you sedn me. May God always be with you and bless you.