MedicMom Posted January 27, 2016 Share Posted January 27, 2016 Anyone have any knowledge or experience? I don't want to give too much detail yet, but we've been given a referral to a specialist in ped neurodegenerative disorders. Just looking for advice or BTDT. Quote Link to comment Share on other sites More sharing options...
Katy Posted January 27, 2016 Share Posted January 27, 2016 No, but :grouphug: :grouphug: :grouphug: 3 Quote Link to comment Share on other sites More sharing options...
Twigs Posted January 27, 2016 Share Posted January 27, 2016 :grouphug: :grouphug: :grouphug: Quote Link to comment Share on other sites More sharing options...
East Coast Sue Posted January 27, 2016 Share Posted January 27, 2016 No first hand experience, but I'm aware that there are many types of neurodegenerative disorders. I hope that you get answers quickly and that the diagnosis is not neurodegenerative. (((Hugs))) 1 Quote Link to comment Share on other sites More sharing options...
prairiewindmomma Posted January 27, 2016 Share Posted January 27, 2016 (edited) When we were at NIH for a study, we were on the same treatment cycle as a number of families who were part of NIH's rare diseases research. A lot of those patients were kids with ped neurodegenerative diseases, many of which are still nameless. There is an entire research division for such things, and a number of really good resources. In talking with those families all of them talked about how hard it was to get accurate information and how they wished they had known earlier about treatment centers and aid for medical transport. Here's a link to NIH's page for such things: https://rarediseases.info.nih.gov/resources/5/support-for-patients-and-families#category16 ETA: I'm sorry you're going through this cr*p. I wish I could bring you guys dinner and some good chocolate. Edited January 27, 2016 by kbeal 2 Quote Link to comment Share on other sites More sharing options...
Ottakee Posted January 27, 2016 Share Posted January 27, 2016 We have degenerative mitochondrial disorders here. Quote Link to comment Share on other sites More sharing options...
Mom25girls Posted January 27, 2016 Share Posted January 27, 2016 :grouphug: :grouphug: :grouphug: I'm so sorry. Quote Link to comment Share on other sites More sharing options...
lewelma Posted January 27, 2016 Share Posted January 27, 2016 (edited) I hope that what you find out turns out to be better than you expect. Hugs to you and your child. :grouphug: :grouphug: Edited January 28, 2016 by lewelma 2 Quote Link to comment Share on other sites More sharing options...
bolt. Posted January 27, 2016 Share Posted January 27, 2016 (edited) I have close friends with a daughter that has a fatal condition that I believe falls into this category of diseases. It's unspeakably difficult. Edited January 27, 2016 by bolt. Quote Link to comment Share on other sites More sharing options...
klmama Posted January 27, 2016 Share Posted January 27, 2016 Friends' dc has a neurodegenerative disorder - I can't remember exactly which one it is, but she's one of only a few in the country - and finally finding someone who could give real answers made a huge difference for them. I pray you are able to find the right answers for your dc. 1 Quote Link to comment Share on other sites More sharing options...
MedicMom Posted January 27, 2016 Author Share Posted January 27, 2016 I believe they are looking at adrenoleukodystrophy specifically. We will be going to University of Rochester specialists and from there to wherever in the country we need to go. Quote Link to comment Share on other sites More sharing options...
Guest Posted January 27, 2016 Share Posted January 27, 2016 There is quite a spectrum of diagnoses that fall under this - some are much better and more livable and some are unspeakably horrible. Praying for you and your sweet children :grouphug: Quote Link to comment Share on other sites More sharing options...
Pink and Green Mom Posted January 28, 2016 Share Posted January 28, 2016 :grouphug: Quote Link to comment Share on other sites More sharing options...
EKS Posted January 28, 2016 Share Posted January 28, 2016 :grouphug: Quote Link to comment Share on other sites More sharing options...
Jan in SC Posted January 28, 2016 Share Posted January 28, 2016 Please don't quote- My ds was tested for several possible ones, including the one you mentioned. (I don't want to quote.) They involved going to a geneticist and all three of us- me, dh, and ds, giving blood samples. There were also lots of other possibilities and we were in many offices and hospitals. It turned out to be a seizure disorder that he has outgrown. It is terrifying, and I'm so sorry that you have to deal with this. It is so serious that every physician gave us home and cell numbers. We had laminated cards printed from doctors that enabled us to go straight to the hospital lab for testing if he was displaying certain symptoms. Even if your background is medical, you will learn more than you want to know and will realize how little most doctors know, because they don't have to deal with it very often. We had a fabulous neurologist who was determined to find the cause of his issues. I will warn you- a couple of times we'd get a call to bring him in because he had an idea. Then he would be admitted for testing. Keep the faith- whatever that means for you! Don't lose hope! I hope it turns out to be nothing! 14 Quote Link to comment Share on other sites More sharing options...
Okra Posted January 28, 2016 Share Posted January 28, 2016 Hugs to you. Quote Link to comment Share on other sites More sharing options...
NorthwestMom Posted January 28, 2016 Share Posted January 28, 2016 :grouphug: :grouphug: :grouphug: Quote Link to comment Share on other sites More sharing options...
Donna Posted January 28, 2016 Share Posted January 28, 2016 I know a little girl with Metachromatic Leukodystrophy (MLD). It's a horrible disease but she has a great mom who is giving her the best life possible. Quote Link to comment Share on other sites More sharing options...
lewelma Posted January 28, 2016 Share Posted January 28, 2016 adrenoleukodystrophy :crying: I'm so sorry. Quote Link to comment Share on other sites More sharing options...
Donna Posted January 28, 2016 Share Posted January 28, 2016 I believe they are looking at adrenoleukodystrophy specifically. We will be going to University of Rochester specialists and from there to wherever in the country we need to go. :grouphug: 1 Quote Link to comment Share on other sites More sharing options...
38carrots Posted January 28, 2016 Share Posted January 28, 2016 :grouphug: Quote Link to comment Share on other sites More sharing options...
applethyme Posted January 28, 2016 Share Posted January 28, 2016 :grouphug: :grouphug: :grouphug: Quote Link to comment Share on other sites More sharing options...
Junie Posted January 28, 2016 Share Posted January 28, 2016 :grouphug: Quote Link to comment Share on other sites More sharing options...
PuddleJumper1 Posted January 28, 2016 Share Posted January 28, 2016 :grouphug: :grouphug: :grouphug: Quote Link to comment Share on other sites More sharing options...
East Coast Sue Posted January 28, 2016 Share Posted January 28, 2016 Thinking about you and praying for your family. :grouphug: Quote Link to comment Share on other sites More sharing options...
Carrie12345 Posted January 28, 2016 Share Posted January 28, 2016 Former classmates of mine have a son with MLD. They just celebrated his 7th birthday. They're very active in the community, and I'd be happy to give you information to connect with them if need be. :grouphug: Quote Link to comment Share on other sites More sharing options...
mominco Posted January 29, 2016 Share Posted January 29, 2016 (((hugs))) Quote Link to comment Share on other sites More sharing options...
KungFuPanda Posted January 29, 2016 Share Posted January 29, 2016 Neuromuscular disease here. Suuuuuuucky hand to play. Quote Link to comment Share on other sites More sharing options...
ikslo Posted January 29, 2016 Share Posted January 29, 2016 :grouphug: Quote Link to comment Share on other sites More sharing options...
Innisfree Posted January 30, 2016 Share Posted January 30, 2016 Thinking of you and hoping for the very best. What an overwhelming situation. (()) Quote Link to comment Share on other sites More sharing options...
ktgrok Posted January 30, 2016 Share Posted January 30, 2016 A former coworker has a daughter diagnosed with a form of leukodystrophy. But instead of getting worse she has held her own and is in school, and a happy beautiful child. She does have problems including speech, hearing, etc but she's gorgeous and happy. 2 Quote Link to comment Share on other sites More sharing options...
Alessandra Posted January 30, 2016 Share Posted January 30, 2016 (((Hugs))) Quote Link to comment Share on other sites More sharing options...
MedicMom Posted January 30, 2016 Author Share Posted January 30, 2016 We won't really know anything for a while. I have a friend with two boys with a leukodystrophy and she is actually the one who first saw some red flags and started pushing me to see if there is more than just high functioning autism going on. Especially since DS5 doesn't quite fit with HFA; his issues are mostly behavioral and it is getting worse. Plus headaches, weight loss, sudden loss of coordination and fine motor skills. We've ruled out brain tumor. We have another appt on Wednesday; I'm trying to gather information before then. 3 Quote Link to comment Share on other sites More sharing options...
prairiewindmomma Posted January 30, 2016 Share Posted January 30, 2016 Ruling out brain tumor is a good thing. Praying for your other appointments. Quote Link to comment Share on other sites More sharing options...
NorthwestMom Posted January 30, 2016 Share Posted January 30, 2016 :grouphug: :grouphug: :grouphug: I really want you to catch a break with this one. You've had way more than your share of trouble these past years. 3 Quote Link to comment Share on other sites More sharing options...
sbgrace Posted January 30, 2016 Share Posted January 30, 2016 (edited) :grouphug: My son has a metabolic neuromuscular condition that is degenerative. We had really scary possibilities presented as likely explanations when he had his initial testing (Cleveland Clinic). It was terrifying.The local children's hospital admitted shortly thereafter and repeated those labs plus some. The horrible things they initially suspected were ruled out in skin bx. The end result was still pretty grim prognosis wise, but his course has been much better than we were told to expect. The geneticist is more hopeful and positive every single appointment. My point is empathy. The possibilities and uncertainties that you are in now were the hardest part for me. I really hope it's something different than what they suspect, as it was for us. :grouphug: Edited January 30, 2016 by sbgrace 4 Quote Link to comment Share on other sites More sharing options...
Guest Posted January 30, 2016 Share Posted January 30, 2016 We won't really know anything for a while. I have a friend with two boys with a leukodystrophy and she is actually the one who first saw some red flags and started pushing me to see if there is more than just high functioning autism going on. Especially since DS5 doesn't quite fit with HFA; his issues are mostly behavioral and it is getting worse. Plus headaches, weight loss, sudden loss of coordination and fine motor skills. We've ruled out brain tumor. We have another appt on Wednesday; I'm trying to gather information before then. We will be praying for you on Wednesday. God bless your friend for mentioning it, because catching these as soon as possible helps with treatment and he is still just a little guy. But I'm sincerely hoping she was wrong and they'll find nothing of consequence wrong with him :grouphug: Your sweet family has been through the wringer and it just stinks. You deserve good news :( Quote Link to comment Share on other sites More sharing options...
Guest Posted January 30, 2016 Share Posted January 30, 2016 Keeping sweet baby and you in my heart. I hope you find answers and they are not terrible. <3 1 Quote Link to comment Share on other sites More sharing options...
ktgrok Posted January 31, 2016 Share Posted January 31, 2016 As they do tests, check b vitamin levels. Things like headache, weight loss, loss of coordination can be related to some b vitamin deficiencies. Hugs. Quote Link to comment Share on other sites More sharing options...
Terabith Posted July 20, 2016 Share Posted July 20, 2016 I know this is an old thread, but I was wondering if there was an update. How you were and how your son is? 2 Quote Link to comment Share on other sites More sharing options...
catz Posted July 20, 2016 Share Posted July 20, 2016 I know this is an old thread, but I was wondering if there was an update. How you were and how your son is? :grouphug: I've wondered about this too. Quote Link to comment Share on other sites More sharing options...
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