I was diagnosed with ataxia last June. So far they couldn’t identify the ataxia gene but did identify HSP. SPG7. They are still doing genetic testing. Is anyone else dealing with this too???
I’ve never posted anything on this site.
I’ve got many other medical issues going on and my PCP seems clueless about ataxia and HSP. She told me told it could be worse I could have cancer. I was shocked. I know people that have been cured of cancer. This dx at this time has no cure or treatment. It has affected my life considerably. I feel like this medical professional was insensitive!! also, she would only give me a temporary parking permit since "we like to give those only to people that are really handicapped"
My nuerologist gave me a permanent parking permit WITHOUT me even asking!
I have the same as you - Ataxia as a symptom of HSP due to a defect on the SPG7 gene. If your neuro seems more aware of the issues you are dealing with then rely on him more than your family doctor - mine isn't up on the issues that come with Ataxia or HSP so she defers to the neuro on those problems. Only if something is clearly not related to Ataxia/HSP does she get involved. She is good that way - knows her abilities and doesn't "step on another's toes".
My neuro gave me a parking permit without question - I didn't even ask my family doctor about it. In Ontario we have to renew them every 5 years - he's already told me he'll sign the renewal with no questions when mine comes up in May of next year.
Good luck - if you have any questions for me feel free to ask!
Yes, my family is part of a clinical study w/NIH (National Institutes of Health) for our diagnosis of "suspected SCA and/or HSP," given to us years and years ago when my extensive genetic testing for the more common SCAs and HSPs were negative. Ours is a dominant type, however -- unlike yours and Brian's, which is recessive...Hmmmm....
Luckily, I am still in the mild-to-moderate phase, and so 95% of my neurological problems are latent -- ie., present, but not seen. I do go to a local neurologist once a year for follow-up and meds refill (Baclofen for spasticity). Other than that, I see my regular PCP for my yearly physical and the little things, like a cold, a vaccine shot or such. She knows of our mystery neurodegenerative disorder and as Brian's does, she defers to the neuro on problems which are more than she can handle...
Yes, I think that you should shop for another PCP, if possible. Good luck to you.
Your PCP doesn't have a clue about ataxia. I would tell them to brush up on ataxia before they give any opinions about it, My PCP doesn't know that much about ataxia. He's only human and doesn't know everything but what he doesn't know he finds out. Your doctor doesn't want to know what you have and is not willing to learn about it and they shouldn't be comparing anything. I would find a new doctor that is willing to work with you.
The SPG7 Gene, HSP has been more recognised to be the underlying cause of ATAXIA.
(I have recently been given sight of medical papers to confirm this - I will try and link to them)
I know of a few of us in the UK with this diagnosed combination.
SPG7 Gene info. https://ghr.nlm.nih.gov/gene/SPG7