H-ABC - Discussion - United Leukodystrophy Foundation Support Community

H-ABC

By JOSHYSMOM
Posted August 22, 2008 at 11:27 pm · 7 replies
In Other leukodystrophies

I have been told there are only 12 cases in the world of this leukodystrophy so far. does any one know any thing about it? My son was fine until about 2 yaers old and then he started falling alot. His speech was very hard to understand but I thought he would get speech therapy and be fine. they said it was mild cp. Then when he was about four dystonia took over his right arm and he could barley move it. He stopped walking around 5 and a half. I watch him slowly get worse and pray for a miracle from God. At 6 and a half he was diagnoes with hypomylination of the basal ganglia and cerebellum. There is not much info on this so I would appreciate any help from other parents dealing with a leukodystrophy. What else should I expect?

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By ChristophersMom
Posted August 23, 2008 at 10:45 am

My son has Alexander's Disease and I have seen my child go from crawling up the stairs to not being able to control or support any part of his body. I deeply understand your feeling as a parent. I will pray for Joshy and your family. please feel free to email me if I can help with anything.

By JOSHYSMOM
Posted August 24, 2008 at 9:42 pm

How old is your son? Is there anything they can do for Alexanders disease? There is not much they can do for Josh except try to treat the symptoms, ot,pt, and speech therepy help to. How old is Christopher? When did his symptoms start? Josh really started getting worse around 4 years old. It's hard because he went downhill so fast and I don't know what to expect in the future. I do put all my trust in Jesus and I know he can do anything, so I am praying for a miracle. I will pray for Christopher too. I think one of the hardest things is dealing with other adults who look at us with such pity in their eyes, but are afraid to ask me any questions about him because they are afraid to bring it up. Does that ever happen to you?

By msdmom
Posted August 25, 2008 at 7:34 pm

My daughter, Barbara, is now 32. She was diagnosed with multiple sulfatase defiency at about 7 1/2 years. Barbie reached normal milestones until about 18 months. Then she started to fall often and her language development and physical growth slowed down. Her progress was very up and down for a couple of years. Some days she stumbled more. Some times she would say a new word out of the blue. But she went downhill very quickly over the next few years. By the time she was 7 1/2 she was in a wheelchair. She was able to stand with support until about age 8. She was only 46 pounds at age 12 because she was so weak and couldn't hold up her head for meals. She was still able to chew regular food but sometimes it was easier to put her meals in a blender. She had a gastric feeding tube placed when she was 12. It made a huge difference and she was 70 pounds within a few months. Her skin was healthy, her lips were no longer dark pink, and her hands and feet were no longer cold. I was still able to feed her by mouth but after a while she was having more difficulty with chewing and swallowing. She hasn't had anything (but a small taste) by mouth for the last two years. By age 16 she needed to have spinal rods placed because of scoliosis. At that time she was not able to sit up well even with support. Her head was always resting on her chest. After surgery she was able to sit well with support and had better head control. Six months later she needed to have hip surgery because of dislocation due to contractures. Since that time (age 17) she has had only two surgeries for pressure sores. She is very much the same as she was at age 20. She loves to go for walks or sit outside under the tree. She also loves music and having people around. Although she is non-verbal and dependent on us for all her needs, there is something about Barbie that is very special and deep--an awareness and peace that is hard to describe. I have had many supports over the years--teachers, caregivers, doctors, nurses, therapists, but especially other parents. There is nothing like another parent who really understands. I also continue to pray for a miracle--not just for Barbie but for all of us and our children.

By JOSHYSMOM
Posted August 26, 2008 at 9:54 pm

You are an absolute inspiration and so is Barbra. I don't know how to thank you enough for sharing your story. I agree that there is nothing like a parent who really understands. I never heard of luekodystrophies until now. When Josh was diagnosed they gave me some printed out medical sheets, which I don't really understand, and told me there was only 11 other children in the world with this disease. I asked if I could contact the other parents but because of new privacy laws I couldn't. I was devastated. I read what I could find but it didn't tell me what to expect or what to look for. I am so glad to hear that your daughter is 32, and has peace. My son has a happiness about him that draws people to him, even though he can't walk anymore and having more dystonia in his arms he is always smiling. I know God has them all under his gentle care and he gives us strength when we need it. I will keep you also in my prayers.

By LoisMarie
Posted November 29, 2008 at 8:58 am

Hello! I have just found this wonderful site and group and feel a connection already. I have a 24 year old 'beautiful' daughter who has been diagnosed with so many things over the years. Finally it has come down to H-ABC disease. This is certainly an emotional rollercoaster ride for Jenna and our entire family ... I know you will understand. I have found out as much as possible about this genetic disorder and would love to be able to talk with you about this. Whew! So good to find all of you.
(PS Today is a difficult day ... we had to make the decision for our Jenna to start process of getting her a G-Tube for feeding ... :( ) Warmly, Lois

By JOSHYSMOM
Posted November 29, 2008 at 8:45 pm

I am sorry that you have to make the decision of getting a g-tube for feeding your daughter, but i am so happy to hear from you. I have so many questions about h- abc. My email is phaydt@yahoo.com if you ever want to talk. When did you find the diagnosis? How is your daughter? Does she talk? Did she walk? How does she deal with this disease? My son doesn't seem bothered by it unless he sees something he wants to do then tries it and can't. He gets frustrated when I can't understand what he is saying. Where are you from? Did Dr Van Der Knapp diagnose her? I cannot wait to hear back from you. I am sorry to ask so many questions but the doctors did not give us much info and the little bit i can find on the internet doesn't tell me enough. Does your daughter have any problems with scoliosis? Is she on any medicine? Josh had surgery last year to help him stretch better and he did very well. I was really hoping he would walk again after the surgery but his balance is just not there. Do you know of any other treatment or new medicine? I pray there will be a cure found. Sincerely, Patty-Joshy'smom

By JOSHYSMOM
Posted November 29, 2008 at 8:50 pm

I hope everything went well with feeding Jenna today, you are in my prayers, Patty

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