Already a member? Sign in
What - Inspire is a place where you can connect with people who share your health concerns and find information and advice in groups sponsored by organizations you know and trust.
Why - As a member you can use Inspire to let friends and family know how you're doing, contact others who share your health concerns, receive personalized updates and information about participating in surveys and clinical trials, and more.
How - Joining Inspire is completely free and usually takes less than a minute. Join now!
My daughter was diagnosed with CACH in 2004, she was 14mths old, She is now 6yrs old. To this day there is still little discussion about this type of Leukodystrophy. I would love to talk with someone that has a child or has the disorder. Please let me know if you know anyone.
Thank You
I am very sorry to hear about your situation with CACH. My daughter was diagnosed with CACH at the the National Institutes of Health about 14 years ago. I cannot tell you how rare it is compared to the other Leukodystrophies. One thing in our favor is that scientists have finally identified all of the genes in the gnome project and can now identify the exact gene causing the CACH. Until that time my daughter, Kelly, was diagnosed at NIH as having Ovarioleukodystrophy. At that time there were only about 7 other people diagnosed with that disease -giving us little hope that anyone would try to find a cure or treatment for such a limited group of people. But, after the gnome project, Kelly's blood was run through the system and she was found to be part of a larger group of Leukodystrophies so there may be some hope afterall. So far scientists have developed a mouse with the same disease and it will be use in helping to find a treatment; hopefully in time to help us all. (248-681-0752)
hello my name is flora and i have a son his name is Matthew he is 4 years old he got vanishing white matter two years ago and right now he can sit by himself or eat he has no head control but he is alive and my husband and I we pray to god for a miracle every day. Last year we went to ULF conference.
There is some additional information that may be of help to you at the following website. One of Kelly's doctors (Schiffmann) is the author and an expert in CACH. (He coined the name, I believe)
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&partid=1258
Thank you so much for replying. Dr. Schiffman is actually the doctor who diagnosed Lexi. He is not in Maryland anymore, and I'm not sure if they are still doing the research there or where he is now. Do you know? I would love to talk to you more, I haven't really come across anyone yet with the same disorder, I would like to know if some things are alike with them. I will try to call you in the next few days.
Thank You
I am sorry to hear about your son, but I do know what your going through. All you can do is pray for God to take care of him. My daughter has gone through so much in the past 4 years, at times we didn't know if she would make it. The doctors even have said that she has a higher power taking care of her. She is my inspiration, what she goes through, but still continues to smile and laugh. Have you went to an NIH for studies? That is who diagnosed Lexi, the doctors here in Charlotte could not figure it out. I will keep you all in my prayers!!
Dr. Schiffmann is now at Baylor (Texas) and still involved in research. I don't believe they are doing anything at NIH. If you'd like to talk please feel free to call (248-681-0752). On Tuesday's I am in class from 8 AM to 9 PM and I work in the ER on Friday and Sunday evenings. Otherwise I am usually at home. My wife, Harriet, always has her cell phone on so you can call her if I am not available: 248-770-0216.
Add to the discussion