infant Alexander Disease

My 15 month old granddaughter has been given a preliminary diagnosis of Alexander Disease. We are waiting for blood test to come back to confirm. I have been on line and read what I could find but everything is so vague. What can we expect and when? Or is this so rare no one knows waht to expect when? Can anyone point me to some really good information to read?

Thank you

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Mu daughter will be 3 in June...she has Alexander Disease and was diagnosed last April...there is no telling what comes first...all kids are different...my daughter didnt walk til she was 2...and talking came a few months after that....where another Alexander patient doesnt even walk or talk yet and is a year older than my daughter...I wish I could tell you more...but you can contact Dr. Albert Messing in Madison Wisconsin...he pretty much the only researcher studying this disease...meeting with him he will take a blood and a urine (if possible to get) and send MRIs out to the Netherlands...Im so sorry to hear about your grand daughter...this disease REALLY SUX...but we all stick together on here and try and support who we can...also add on facebook if anyone has one...update all the time on there from parents dealing with this sort of thing!!!

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Thank you for sharing. We live in Charleston SC and have a very good childrens hospital here but they admit that we are only the 2nd case they have seen. She doesn't walk on her own. She will walk a short way while holding on to something steady. She says a few words. We are in the process of setting her up for physical and speech therapy and arranging a hearing test.

Again thank you for sharing. I will join facebook and look up Dr. Messing.

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Hello...sorry to hear about your granddaughter. Our son is 7 1/2 yrs old and was diagnosed right before he turned 2. He walks, talks, eats etc but everything was VERY delayed. He also started going to PT at 9 mos old, OT and feeding at 15 mos, Speech at 18 mos. I think these therapies are critical. He has the R79C mutation for Alexander's. I have found at least 3 other kiddos with the same mutation. It seems like they have had a similar course of this awful disease otherwise, no 2 seem the same. There are mild cases and extreme cases. We have a website for Sean is you'd like to visit it www.seanscastle.com you can also find me on facebook, search Carin Kulzer and my pic is of the Disney castle. Sean sees Dr. Deborah Renaud at the Mayo Clinic in Rochester, she has at least 5 other patients with Alex. We really like her. Just an FYI, there are 2 Sean's close in age and with the same mutation so it may get confusing as different posts come in.

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Thank you for this information. We are waiting for test to come back to find out exactly what mutation she has. I will look up Sean's website an find you on facebook. I am thinking we will need all the moral support we can get from each other. I am saving all this information for my daughter. She just isn't ready to do the research yet. She goes to see a councilor once a week and they are going to start researching together next week. I think that is a good plan. Her weekly visits are the only chance she has to be without her kids and just let it all out.
Again, thank you

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Seeing a counselor helps a lot...thats the only time i was away from my daughter too...n its so hard because the child doesnt know whats going on...but these kids are strong!!!

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Hello AEO-meme,
My name is Holly am I here at the United Leukodystrophy Foundation. We have alot of information here. If you want more information go on the website ULF.org we can get your contact information and send you what we have on Alexander's. Hope this helps. Stay strong. "You Are Not Alone" Sincerely, Holly

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Thank you Holly, I will do that.

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Hi my little girl Olivia was 2 in Feb & she was diagnosed in Aug 11 after a very long history, there seems to be very little known about the diease. We're still trying to except this but im not sure we ever will.
Olivia can walk but talks & shuffles round on her bum, shes a joy but it breaks ny heart. I cant let myself think to fair into the future.

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Thank your for your responce. I understand how you feel about thinking about the future. It's so hard. I am determined to make Ainsley's life the best it can possibily be for as long as we have her.

We have our first visit with the neourologist on Thursday and she will be evaluated for speech, physical and occupational therapy on Friday. Its going to be a busy week.

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My daughter Hailey has the Infantile Alexander disease , she is 11 now and still walking and eating, talking and learning! I tell you this to give you hope. When she was diagnosed at age 6 they told us what the books say " she will only live one -four years" most kids only live to be 6 and here she was 6 and very much alive. She was 9 months old when the seizures began and she was delayed on all levels . We took her to so many doctors for years before they got it right. The fact that your grandkid can walk , even by holding on is promising to me , hailey walked at 16 months, but fell a lot. Many with AxD never walk or even hold their heads up so it sounds like her mutation may be like Hailey's R79H , which is mild. I spent the first year so upset and sad, wasted time I could have spent having fun with Hailey , making memories, but all the doctors ever told me was that she was dying. Get all the therapy you can for her, that helped Hailey so much, she still gets PT and speech several times a week. Hailey has a blog as well. www.caringbridge.org/visit/haileyknecht
on facebook: Dawn Hess-Knecht
God bless you,
Dawn

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