New Zealand calling

[icdowsettNZ]

Hello from New Zealand,

After original diagnosis when I was in my twenties (I am now 78yrs old) have recently had genetic testing. My defective gene was discovered in 2015 and onset can be from childhood to late 70's.

CACNA1G type 42

If anyone has the same diagnosis I would love to hear from them. My grandfather, who "walked funny" was from Musselborough or near the border with England. His surname was Brown.

All the best to everyone, Ivan Dowsett

[wobblybee]

Hi Ivan, welcome 🙂 It's possible my symptoms first became noticeable to me when I was much younger but they were fleeting at the time. I don't know my exact type as yet, I was diagnosed in 2011. My grasp of Geography leaves much to be desired, at first I imagined Musselburgh was in Cumbria. After googling, I can see it's near Edinburgh in Scotland, so I wasn't too far adrift 😉 I live near Newcastle, it's in Northumberland, near the Scottish border 🙂 xBeryl

[icdowsettNZ in reply to wobblybee]

Thanks for replying. I had to wait 48 years for a specific diagnosis. Means my two children can be tested. If they are free, my 11 grandchildren and 17 greatgrandchildren will be free of this ataxia. I have been in a wheelchair for over 20 years and the last couple of years my hands and arms are bad especially the ataxic jerks.

Ivan

[wobblybee in reply to icdowsettNZ]

😳 48yrs. For many of us, it's been a long rocky road to diagnosis, luckily Research has made great strides in recent years, so many links have been found. I suspect my own type is genetic, up until recently I was convinced it could only have come from one side of the family but now Research seems to be pointing somewhere else🤔 It just goes to show, we should never give up on looking for an answer.

Very best wishes to you and your wonderfully large family Ivan 🙂 xBeryl

[february]

Dear Ivan, A HUGE welcome to this site! I live in the USA, In the State of Michigan, which is very much across the pond from you...,ha! I was diagnosed with Sporadic Cerebellar Ataxia (unknown cause, progressive, symptoms 24/7) thirteen years ago (I'm 63 years old now), although I had very minor symptoms eight years before diagnosis. In the past, I've had genetic recessive and dominant testing for the known ataxia's, which was negative. I've also had genetic 'exome' testing, which was inconclusive. Anyway, I'm glad you know what type of gene you have that caused your ataxia! My best to you..., ;o)