The elephant in the room. We could end genetically inherited illness in this generation.

[sunvox]

The elephant in the room that is not being discussed is the fact that we have the ability in this generation to end transmission of genetically inherited diseases. Genetic testing affords us the ability to choose whether or not to have children both in knowing that we hold the gene for the disease and in knowing if our potential offspring carry the gene. Little if any discussion is happening on this account. It is a tragedy of epic proportions because we can halt this disease forever, but there is no support to do so.

[BlanketTime1]

i'm not very comfortable on the subject of eugenics. I do know a lot of people want to have their own children and the possibility of ataxia in offspring probably isn't enough to prevent them doing so. personally, I see kids like pets; why reproduce when millions need adoption? but my mum calls me crazy for believing that *shrugs.

I think a part of the problem is the relative rarity of ataxia. I've never met another person who has it. if more did, it might be like diabetes where there's no cure, but so many people were affected that scientists/researchers worked really hard to find ways to manage it...

which is moot, right? i'm mostly snowballing here. I don't have a solution, but you did make me think.

[HarryB Administrator]

Dear sunvox

There are many people with ataxia who don't know the underlying cause. This figure is about 40% of all those diagnosed with ataxia. This is despite now knowing there are way over 100 genes known to cause ataxia. Many of these people will have a spontaneous mutation who have no family history of the condition. Indeed there are many people with confirmed autosomal recessive ataxias who have no family history.

In order to perform genetic testing you need to have a reason to do it and also know (or at least have an idea of) what you are looking for. As in the above this would not apply to a lot of people. Unfortunately we are not in a position to end ataxia now.

Harriet

[SueMillman Partner Ataxia UK]

In fact genetic testing is being discussed quite a lot in the UK as our National Health Service has just launched a National Genomic Medicine Service which will soon provide genetic testing for many rare conditions. In the case of undiagnosed ataxias patients wont have genetic tests but will have whole genome sequencing! We hope this will lead to the discovery of many more ataxias. However, this won't deal with the problem of parents who are carrying a recessive ataxia without knowing that they do. In this instance there would be no reason to test either the parent or the embryo for an ataxia - and we are certainly a long way from the National Health Service testing everybody for everything! Perhaps one day in the future when the costs have come down significantly - but not in our lifetimes I think........

[simon111]

Hi sun vox

Simon is the youngest of my 10 children there has never been any history of ataxia in mine or my husbands family.

Totally shocked when we got his diagnosis

Mary

[neta]

Indeed there is no ataxia in may family just me. My dad is 96 and in fine shape. My mom died at 92-- no one has/had ataxia and they came from large families. xo N

[Mariweena]

Unfortunately there are also Idiopathic and acquired ataxia, I have the latter,

[sunvox]

I admit to doing a poor job of writing my opening remarks. I am well aware many folks here have idiopathic forms of Ataxia, my remarks are meant only with regards to genetically inherited diseases like SCA and Huntington’s and others. I realize it is controversial but I wish society would at least talk about the issue rather simply ignore the idea.

[suzie44na]

Hi I would like to see a geneticist, but in my case this is to fight for, maybe it is all about money.

Suzie

[Litty]

This is an incredibly difficult topic and I think it is very individual.

I know that as a parent of a known ataxia my opinion is do anything you can to stop it.

I have SCA1 inherited off my Dad, and I and my sister were one of the first to be offered testing, back in 1995. I was first because I had 2 young children and after counselling my husband and I found out I had the gene (I chose to be immediately sterilised). My one sister was also tested but while she was waiting she had a mental breakdown. She does not have ataxia which I found really hard. Unfortunately her husband died a few months later and also a good friend suddenly died and it helped me realise I would rather be here. I have another sister who decided not to be tested but later developed it and is in a home in Australia.

My kids have grown-up knowing that they may be wobbly like Mummy (so hard to tell them!). They can be tested as adults. My son was tested and he does not have it! This was so hard for everyone and my daughter still finds it difficult. My daughter got married this year (she and her husband are my joint carers). Kate is planning to be tested next year.

IF I could have had a test and had this end with me I would be SO happy - sorry this is depressing xx

[sunvox in reply to Litty]

Hi Litty, Thank you so much for sharing your story. Personally I believe the more we share our stories the better each of us is able to cope. In my life I knew immediately I wanted to be tested so I could prepare for the day when I needed to tell my children and help them make the horribly difficult decision surrounding genetic testing and what it means. Thank you again! Joe

[Mkite in reply to sunvox]

Hi Joe, appreciate all our advice and wisdom. My daughter has SCA2 and has 2 children, 11 and 13. When and how does she explain this to them? how did you handle it? Any advice would be helpful. thx

[Litty]

I too needed to know xx

[Rhyothemis]

Phenotype = Genotype(G) + Environment(E) + Genotype x Environment Interaction(GE)

This applies to all phenotypes, including disease states.

My belief is that even sporadic illnesses have some genetic component at least from the GE term of the equation - otherwise the specific E component as cause could be more easily determined.

I just got my test kit from Nebula genomics, which offers free genome sequencing; I paid the $99 for the option of being able to control who can access my anonymized data (there are some BigPharma companies I don't much like). 23andme found I'm heterozygous for Medium Chain acyl-CoA Deficiency and Familial Mediterranean Fever. MCAD symptoms are sometimes present in heterozygotes; FMF heterozygotes are not supposed to be symptomatic - but my experience says otherwise.

There may not be anything else - any known variants. Also, the analysis is not at present clinical grade. However, I'll be contributing to research. If many with 'sporadic' cases of neurological diseases also contribute their data, perhaps some progress towards understanding the etiology of these diseases can be made though the application of deep learning methods (AI). With this knowledge we may be able to improve people's lives in some cases with interventions as simple as vitamin supplementation or special diets.

For more on Nebula genomic's approach to genome sequencing, data collection, and analysis:

youtube.com/watch?v=sJr7PP1...(Not working as expected?)