Sometimes, results go to my GP rather than me personally. My latest GP would always tell me, but my previous one didn’t.
I have had a letter from the hospital that my scans have come back and that it confirms shrinkage of the balance centre and he wants to see what other treatment he can do. Also, he is still waiting on some of the genetic results to come back.
You must be relieved to see some results back, I hope your Neurologist can offer suggestions re therapy etc.
yeah, I am relieved to have my scans come back even if I need to wait for the other results to come back but I do feel like am getting listened to down in Sheffield rather than my other one up here in Leeds who just doesn’t know what she’s doing.
I still haven’t heard anything yet for my genetic test results (bare in mind I had the blood tests done in January) should I be worried is it good news and everything is fine or is it bad news and they have found something more it’s just the waiting its getting to me now any suggestions most grateful
Had you had it done through any institution?
I had it done at Sheffield hospital
I had mine done through Johns Hopkins and they called me in 2-3 months with the results.
I should have heard something its been 6 months
It’s frustrating waiting for results…I’ve been there a few times. At the moment Covid has pretty much delayed everything…so that may be the reason.
On 7 July, the NHS brought out a new directive…WHOLE GENOME TESTING. (This could be similar to the 100,000 Genome Project). I had a Neurologist appointment on Wednesday, and blood was taken then. As with any other procedure involving DNA, there’s a lengthy consent form to fill in. Unfortunately my Neurologist doesn’t yet have an experienced person to oversee this…so I foresee another long wait…
I’m in a bit of a dilemma I know that everything is all over the place with covid but it should not take over 6 months for any results to come back when I got told from the doctor his self that it would take no more than 2 months. I dont know if I should contact my ataxia nurse or not but I have been struggling a bit more now the other day knowing it was there I just walked into the wall and had a bit of a bump on my head,I just feel like I just can’t keep my head above water at the minute, should I contact my ataxia nurse.
Yes…Contact the designated Nurse, she won’t mind talking things over, and giving you advice and reassurance.
I went for my appointment today down at Sheffield and the doc has said that it is definitely gentic how does someone get their head around that when they have been told all their lives its something that I was born with any advice
Have they been able to pinpoint a type…
I’ve wondered since the start, whether my ‘type’ is genetic. My Mother had similar eye and balance issues, but hers were due to an aneurism behind one of her eyes.
I’ve been told that it’s possible mine could be Recessive, so it could actually be genetic…I suppose research will come up with an answer in due course.
I’d like to have known for certain before either of my children started having a family…
well, they told me it’s very rare and he’s going to do a lot of digging into it because he said it’s sca-35 which I have got no idea what it’s about, how it comes about, or what to think about it at all. It has been a total shock for me because he has said that is why am probably having all these seizures as well
There is info online re SCA35, I couldn’t see a reference to seizures, but there’s always the possibility of a mutation of the gene, which is probably why your Neurologist is doing some ‘digging’.
I found this, but of course it may not apply to everyone…
Objective:* To report a SCA35 patient with clinical improvement after adopting a gluten-free diet.
Background: Spinocerebellar ataxia type 35 (SCA35) is caused by mutations in transglutaminase 6 ( TGM6 ). Autoantibodies to transglutaminase 6 (TG6) are associated with gluten ataxia, which may respond to a gluten-free diet.
Design/Methods: A case report of a patient with SCA35 who improved with a gluten-free diet.
Copied from https://n.neurology.org