Status
Not open for further replies.

jodeeszakacs

Member
Joined
Dec 7, 2008
Messages
11
Diagnosis
06/2008
Country
US
State
ny
City
oneida
Okay, I hope I don't ramble, but I need some help. I have an adopted 8 year old boy who has, in the past two years, been seen by many physicians for muscle weakness, toe walking, and slurred speech. These conditions have gotten so much worse in the past year. He has seen numerous neurogists for these issues, and specialists for his issue of weight loss. He has had some shaking on both of his hands, especially his fingers. His MRI's and all bloodwork have been normal (except for some elevation in his CK? levels).
He has been to Johns Hopkins to see pediatirc neurologist Dr. Crawford this past October where I was told that he had upper and lower motor neuron damage. His tongue has many fascilations. In the past couple of weeks, you can see severe twiches in his face and terrible twitches to his back. I was told that he had a very rare motor neuron disease that they didn't have enough information about to give it a named diagnosis.
His "probable" diagnosis's (all have been ruled out by testing) were; Fredrieghts Ataxia and spinal muscular atrophy. After a muscle and nerve biopsy, I was told that he had a mitochondrial myopathy.
He has had a GI tube place last month because he has not gained any weight in about two years. He falls constantly, but I think everyone is most concerned about his twiches and muscle wasting.
I am going back to see his pediatric neurogist on the 18th of this month. I have not been told that my son possibly has ALS by this physician, but as I previously mentioned, we were told at Johns Hopkins that he has a very rare motor neuron disease. I have also been told by his pediatric gastrointestinal specialist that he suspects ALS. I want to have as much information as possible when I go to his neurologist appointment next week. I have done a lot a research, and it all points to him having a form of child ALS. Also, can anyone explain why my son is having sure noticeable twitches all over his face and back (there are twitches everywhere on his body, but these are the most prodominant)? PLEASE help. I am not in the medical field at all, but I would like to be informed when I go to his appointment. I think sometimes pediatric physicians only look into PEDIATRIC diseases.
 

rose

Extremely helpful member
Joined
Mar 29, 2008
Messages
2,879
Reason
DX MND
Diagnosis
7/2008
Country
US
State
Maryland
City
Anytown
Dear jodeeszakacs,

I am so sorry that your son is experiencing this. It has got to be a nightmare for you that you just never wake up from!

I do not have a medical background, and have no words of wisdom from that perspective, however, there are others on the forum that should be able to help you sort it out a little bit.

I will say that I go to Johns Hopkins, they are absolutely tops, there is not a better place to take your son. My neurologist is Dr Charlotte Sumner, and she actually specializes in inherited and other rare forms of motor neuron disease. She might be someone you could ask to see at Hopkins for another opinion.

We have another member of this forum who's 18 year old son has been diagnosed with ALS, (they are also scheduled to go down to Hopkins, but I don't know the date). I will send her a private message and alert her to your post here. I think as a new member, you will be unable to receive private messages for a while, but she can offer you some support from a mother's perspective by responding to you here in this thread.

My heart really goes out to you. I hope it turns out that your son does have any sort of treatable condition, and regardless of what it is, that your family is able to shore up the strength needed to deal with this.
 

jodeeszakacs

Member
Joined
Dec 7, 2008
Messages
11
Diagnosis
06/2008
Country
US
State
ny
City
oneida
Thanks for your support! It was Johns Hopkins that told me my son had a rare neuromuscular disease. That is what worries me the most. I am concerned that "the best" can't be wrong.
 
Status
Not open for further replies.
Top