Posted for a friend. Reply to her or me (and I'll pass it along).
-----------------------------------------------------------------
I have a daughter, Megan. Megan is now 15 months old. She
was diagnosed as having a peroxisomal disorder when she was
8 months old. She is receiving docosahexanoic acid (DHA)
treatment from Dr. Manuela Martinez in Barcelona, Spain, and
we are travelling to the Cincinnati Children's Hospital next
week where she will also commence primary bile acid
treatment supplied by Dr. Setchell and Dr. Heubi. Part of
Megan's treatment is also to restrict phytanic acid from her
diet. We were at
John Hopkins Hospital in May where she was seen by Dr. Hugo
Moser. These researchers all seem to agree that Megan has
either Infantile adrenoleukodystrophy or Infantile Refsum's
disease. In any event, it is an autosomal recessive genetic
disorder. No one knows how much of an effect the two
treatments that she will be getting will have on her. If
they do not have much of an effect, Megan might live until
she is an adult but she is blind, deaf, and may never reach
a mental age greater than
1 year. Due to this extremely dismal prognosis and lacking
much hope for even a fair if not good life, her father and I
are willing to take risks in seeking treatment for her. We
would not like her to suffer unduly (making a decision about
bone marrow/liver transfer difficult), but we feel that if
someone could offer a potential cure for her that we would
risk her dying.
After a fair amount of reading of medical journals, it seems
to me that the only cure for Megan and her chance of having
a life lies in gene therapy. Is there anyone contemplating
early gene therapy clinical trials or doing myelin research
who would like to have a subject?
Please send responses to kmomtaha at ccs.carleton.ca
Kathy
--
Susan Gauch
sgauch at eecs.ukans.edu
EECS
University of Kansas
