I was diagnosed with mitochondrial disease last year, diagnosed with sca17 April this year. I’m 72 years old, have 2 daughters, both with mito, but only my eldest with sca17. I’m feeling a bit lost, don’t know what to expect.
i also have sca17 but i don’t have mito.I am19 years i was diagnosed at the age of 8.
Hi Breanna, I was just comming to terms with mito when sca17 came up. How does sca17 affect you? You’re quite young to have this. X
Sca17 affects me by my balance, my speech and my motor skills however i am lucky to report that is recessive. Is your Sca17 recessive and how is it going with having mito?
I’m a bit confused as some of the symptoms of mito and sca17 are similar. I have a lot of trouble with weak legs, unsteadiness, fatigue and pains in my head. Also my age as an impact on these things as well. X
I was also wondering, what age your eldest daughter was diagnosed with Sca17, do you know if her Sca17 is progessive?
She only got the diagnosis on Tuesday this week, she’s just turned 50. I got my diagnosis in April this year. We’re not sure if it’s progressive or not, We lnly know we’ve got the gene. We haven’t had any follow ups at all yet. Have you had any follow up? X
Hi Christine, welcome
I’m seen in Newcastle by a Neurologist who specialises in Mitochondria, we don’t currently have anybody specifically for ataxia.
The exact cause of my ataxia is still in question, there has been speculation that it could be Recessive…but I find my symptoms are in line with most other people coping with ataxia.
Hi Beryl, I see dr schaefer in Newcastle, it was my first appointment last week. Up till then I thought sca17 was linked to mito but the Dr said not and, it would have to be dealt with in Manchester. I’m feeling confused and lost at the minute. Xx
I saw Dr Schaefer on Wednesday … it was the first time…previously I’d been traipsing down to Queen Square in London.
I live in Newcastle, and we used to have an Ataxia Centre here, but it closed when Specialised Neurologists relocated. Prior to that happening, my blood sample was sent to London, and that was how I ended up there, seeing a Neurologist who specialised in Episodic Ataxia.
When I was first diagnosed with ataxia, my biggest frustration was the lack of information from the Neurologist. I hadn’t a clue…I didn’t know anybody else with the diagnosis… Fortunately a Nurse advised me to contact AtaxiaUK. There’s a helpline number, I poured my heart out…They can send you info to pass on to your GP, but have a look at the website, some things can be downloaded.
Ataxia symptoms can be very difficult to pinpoint to a specific type unless genetic testing proves positive, as in your case. But even then there are always exceptions to the norm, even within the same family it’s accepted that not all of those with the same diagnosis will experience exactly the same symptoms.
Thank you so much for the information, I certainly will get in touch with ataxia uk. X
I did have follow up but not recently no we have done genetic testing about 6 years ago and MRIs every couple of years when it was new to us that I had my disability, but now I just have to go to this doctor that specializes in SCA every 6 months
Thank you for your comments and good luck for the future. X