Grace - HSP

[sarahanne]

Ethan was diagnosed with CP at age 18 months... seizures started at age 3... He walked with a walker till about age 4... heel cord release age 2.5, bilateral femural osteotimies... wheelchair age 5. Ethan had a hard time talking, but could communicate pretty well till about age 7 where his speech started to decline. He also started to lose other skill at or around that age too. VERY SLOWLY... used to be able to put cherrios or such in front of him as a little guy and he could feed himself. ... I have a pic of him eating corn on the cob at age 5.... Switched from our docs in Maine down to BCH at about age 8.... Saw 2 docs on the team initially Neruology and CP clinic folks. First reaction : "why do you think he has CP?" ..... we have been on an endless journey trying to get a more appropriate diagnosis. He has had every test in the books, mito, metabolic, etc etc. About a year ago, the neruo decided with recent test results that the diagnosis was HSP. His father and I were both recently tested. Of the DNA analyzed (SPG4 Nucleotide regions and SPG6 Nucleotide regions.... His father showed 1 variant of significance and i showed none. Ethan presents with 3 variants. The neurologist is not sure how or what all this really means to us. Even though Ethan doesn't have ALL the symptoms of HSP, he has enough and with the DNA variants, feels strongly that this is the diagnosis.
Ethan continues to lose skills at a very slow rate. He used to sit and play with his game boy... can't do that anymore.... used to use the mouse on the computer ... cant ... etc etc. He is toilet trained and has been since age 3.
Ethan's cognitive abilites are at about a 7 -8 year old level. He can not read/write ... tells time minimally .. and time doesn't really mean anything to him. I tell him blah blah blah in a 1/2 hour ... he looks at me questionly... I tell him "2 sponge bob cartoons" and that makes sense to him.
Now this dystonia ... may or may not be related.
He has a wonderful sense of humor and is a very loving charismatic boy ! Everyone he meets loves his smile and his warmth.
Hope that helps you some.
Sarah Anne

[grace]

Yeah, that's a great help. Sorry for all he's going through though. Do you know anyone else with HSP? Matt is nine and still quite independent and variable in function. They are only just now questioning cp. He was dx'd just before two. Has seizures too but they come and go in severity but are atypical. Was mild right hemi, then diplegia but more and more upper body is becoming an issue. Mental stuff...well, I won't presume but will wait for the results and appts. A couple other moms think Matt sounds somewhat dystonic to them...maybe...will see with time. But since you've been down this road...what tests do you think I should insist on or avoid? eg. EMG, spinal tap etc. new neuro in May. thanks. lucinda

[Vettey]

Hi Grace

Here is a summary of hereditary spastic paraplegia.

http://www.emedicine.com/pmr/topic45.htm

There are a quite a few conditions that may be described as HSP, with great variation in symptom severity.

I was thought to have HSP when i was a teenager. I think it is hard to prove that it is HSP, without genetic mutation being found. It shares many symptoms with some of the other conditions that you have looked at.

take care,

Vettey

[grace]

Vettey, you are great. Thanks for taking time for us. I appreciate it.

Lucinda

[Vettey]

Hi Grace (me again, please let me know if i am bugging you)

I was looking at the WeMove website and checking out the info on Hereditary Spastic Paraplegia. Here is the link if you want to take a look.

http://www.wemove.org/hsp/

The WeMove forums aren't as quick as this one (not as many posters) but sometimes you find something relevant or interesting.

While i was looking at some of the posts on the HSP forum, i found an old post from a Mum asking if any other kids have been diagnosed with HSP bc her son had recently been diagnosed. I recognised the name, and so looked at her other posts. Her son has now been diagnosed with DRD, and is walking etc and doing well. He has a caring page that i will PM you.

It was interesting to me, bc i had been diagnosed with HSP and then with DRD, but also made me think about the similarities in these conditions, and probably others, and how hard it is for so many of us to get diagnoses.

Take care,

Vettey

[grace]

Vettey, you're always welcomed, never a bother. Thanks for the posts.