Who has had it? who did it? Do you need other family members? How were you put forward?
Genetic testing eg Ataxia or Hypertrophic cardio... - Ataxia UK
Genetic testing eg Ataxia or Hypertrophic cardiomyopathy
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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
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
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
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 : )
The post code lottery is alive and well, in this country. Often lead by silly things like budget, rather than actual need.