Genetic testing eg Ataxia or Hypertrophic cardiomyopathy

[scruffycat]

Who has had it? who did it? Do you need other family members? How were you put forward?

[wobblybee]

Hi Scruffycat

I had to Google the second one no-one in my family has been tested for this.

At the point of diagnosis of SCA, I was asked if I'd like to donate DNA for research

purposes, and I did. That was in 2011 and I was considered Idiopathic at the time.

Last week I was told a connection had been made with a rare gene. So, proof that we can put faith in research xB

[eileen200271]

Hiya Scruffycat. My son has been tested. His grandad and dad have been diagnosed with SCA6. He saw his GP who sent a referral letter to a clinic in Leeds. The letter was sent last August. His appt was in January. They would not do the test that day - they sent him away to think about it!!! Got an appointment in March and the took blood, said it would be 4/6 weeks. After 8 wks he rang and asked the result but they wouldn't tell him over the phone. He received a letter in the post telling him the result was positive. Not really the best experience in the world but as my son said - I knew it would be positive, just needed the confirmation!! Hope this answers some of your queries.

Take care, x

[scruffycat in reply to eileen200271]

sounds like a journey full of pitfalls and twists'n'turns but,if you last that long, you get there in the end. Maybe.

Thanks

[eileen200271 in reply to scruffycat]

Yr welcome 🎉🎉🎉

[scruffycat in reply to eileen200271]

Were any other family members involved?

[eileen200271 in reply to scruffycat]

Hiya. No. He just went to his GP and asked to be referred as for any other medical problem. E 💜

[eileen200271]

Hiya Scruffycat. My son has been tested. His grandad and dad have been diagnosed with SCA6. He saw his GP who sent a referral letter to a clinic in Leeds. The letter was sent last August. His appt was in January. They would not do the test that day - they sent him away to think about it!!! Got an appointment in March and the took blood, said it would be 4/6 weeks. After 8 wks he rang and asked the result but they wouldn't tell him over the phone. He received a letter in the post telling him the result was positive. Not really the best experience in the world but as my son said - I knew it would be positive, just needed the confirmation!! Hope this answers some of your queries.

Take care, x

[Litty]

A long time ago my Dad, I and my sister were tested. It was back in 1995 and they had just discovered the test. At St Thomas Hospital they discovered my Dad had SCA1. I wanted to know if I had it because I had a young family. I was referred by my GP to

geneticalliance.org.uk/serv...

they are excellent and gave me and my husband several months of counselling (which you need. It is hard knowing you have it coming for definite) before they tested me.

I now go to the London Ataxia Centre and they offer testing. My kids are in their 20s and since my ataxia will not affect them until they are in their 40s their view is that there is nothing they can do and get on and live their lives to full. They may die of something else before anyway.

Hope this helps : )

[scruffycat in reply to Litty]

As you say, 1995 was early days. The trouble is Ataxia remains a bit of dark art.

Life,as they say, is a bit like a box of chocolates. You never know what y're going to get!

[scruffycat]

The post code lottery is alive and well, in this  country. Often lead by silly things like budget, rather than actual need.