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 name is Melissa. I have a 3 yr. old son who after 8 mo. of testing has just recently (Nov. 20) been diagnosed with Vanishing White Matter Disease (Childhood ataxia with diffuse central nervous system hypomyelination, or CACH). Anyone who has any information on this disease or information about a ?Dr. Nadoo? at John's Hopkin's Hospital in Maryland would be greatly appreciated. I just recently subscribed Inspire. Please help!!
Hi Melissa,
I think you mean Dr Sakkubai Naidu at Kennedy Kreiger. She is extremely nice. I met her at the conference during the summer. The big guru on CACH/VWM is Marjo van der Knaap in Amsterdam. She can be reached at ms.vanderknaap@vumc.nl Also, she has someone working with her Hannemieke van der Lei and she can be reached at H.vanderLei@vumc.nl They are doing research on CACH.
My 3yr old daughter has CACH too. At least we think. We are still waiting on final test results.
I would love to chat and let you know what has worked for our daughter and what hasn't. I can be reached at (w) 312.527.6191 and (c) 312.933.9053.
Margaret
Margaret,
Thank you also for replying to my plea. I am truly grateful for any information and help I can get at this time. Thank you for correcting my spelling on Dr. Naidu. No wonder I couldnt find her anywhere, I was spelling her name wrong! Andrew's Neurologist at Nationwide Children's in Colombus, Ohio Dr. Zamel/Donna Kring NP, also mentioned amsterdam. Unfortuanatly I do not have the finances to travel that far, I would give anything to be able to! I will be lucky to be able to make it to Maryland where they are trying to send us to Dr. Naidu. My son's insurance is Medicaid for disabilities and Dr. Naidu does'nt accept it, so we are saving up the money for the $750 .00 office visit. His doctors have contacted Social Services to see if they would pay part or all of this. Needless I have not been blessed with alot of finances. But we do have alot of support thru our church and recovery group N/A. I cannot work due to my son being 24 hr care, and his father works very hard at Vinyl Kraft (they make windows). Around here that is a very good job to have and keep. This town is stricken with poverty due to no work. Listen to me ramble! I am just so happy to finally have someone to talk to about this. How long has your little girl been going thru testing? It took 8mo. of testing on Andrew he turned 3 in May. What are her symptoms? Does she take any medicine? Andrew has taken Baclofen but it made him sick all the time and hot flashes. Now he is on ?Sintament? it is cardadopa 100mg/levadopa25mg in one pill for the low Dopamine chemicals in his spinal tap. It also makes him so sleepy he gets sick. You can also contact me if you want my numbers are:
home:740-776-7244
cell:740-352-4607
I am always home except for on Tuesdays he has therapy and I spend the rest of the day at my mothers. You didnt say when the best time to call you. Well once again I thank you.
Thankfully,
Melissa
After many years of unsuccessfully finding anyone who could help us with a diagnosis for our daughter, at her age of 28 we finally discovered the National Institutes of Health and Dr. Schiffmann. He correctly diagnosed her as having CACH and was followed by them, annually, for 12 years. Unfortunately two years ago the government shut down his department and he moved to Baylor. If I am not mistaken, I believe he is the doctor who gave this disease the name. He was able to eventually identify the exact gene causing her condition and discovered that the reason she has lived so long (41 as of yesterday) is that 60% of the gene is still working. You might want to contact him at Baylor: Raphael.Schiffmann@baylorhealth.edu
Please feel free to call me: 248-681-0752 (Michigan)
Hi, my daughter is 6yrs old and was diagnosed when she was 3 with VWM disease. I think we live fairly close to you. We are in the Dayton, Ohio area. Just found this forum and your post and its nice to meet people going through the same situation.
Here are some pictures of my daughter: http://cornhole.com/grace.htm
Hope to talk to you soon,
JP
Hi I just wanted to let you know that my 4 1/2 year old son Robby also sees Dr. Naidu down at KKI along with her assistant Dr. Genila Bibat. Dr. Naidu has found 12 other children like my son who have a condition she describes to us as post natel Hypoxic ischemic like luekoencephalopathy. She thinks that it is genetic but not sure what gene causes it. They are doing alot of research and we are waiting. It is hard to wait knowing it can take years to diagnose the actual disease. If you ever want to talk please call me 484-788-4104. My son cannot walk without alot of assistance, verbally he is very limited. He only says about 5 words and is also legally blind. But he is doing so well to this point, he is a true miracle, alot of our docs did not expect him to live this long.
Vanishing white matter was ruled out supposedly but I understand how frustrating it can be not knowing.
Add to the discussion