Could Familial ALS be eliminated?

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dldugan

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One of my daughter’s first child had Cystic Fibrosis, which is a genetically passed condition. So they could have additional children with NO risk of CF they elected to have In vitro fertilization for the next children. Embryos were created and tested and only CF free embryos were frozen. IT HAS WORKED.

Although this is a costly process, I think the ALS Association should determine, if they have not already done so, if a program like this could be done for familial ALS. It would be an expensive process, but over time the results could be well worth it.
 

Nikki J

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There are people right now doing this to be sure they don’t pass it on. This has only recently become possible both from the reproductive technology side and the genetic side. Most ALS mutations that we know now are recently identified. C9 which I have was identified only 7 years ago. There remain unidentified mutations - estimated 30-40 percent of FALS will test negative for the current panel.

It is somewhat of a touchy issue as well. None of us who are carriers would have been born. I also know people who have gone through multiple cycles without getting an unaffected embryo. It is an emotional physical and financial strain. I do worry that when the carrier is the female the treatment regimen might contribute to earlier disease onset. I don’t know this but it scares me to think of it
 

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A friend of mine in Australia has just done that and is pregnant now.
 

dldugan

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Nikki, you may still have been born, but without the ALS gene. I know there may be some religious clouds here, but funding this effort would be no more and probably less costly than the cost of the disease.
 

Nikki J

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I would not be me. My embryo would not have been used. I would be someone else if my parents had subsequently succeeded in getting an unaffected embryo. And same for my sister and my known gene positive cousin. Much as I hate how my family members have suffered they were all amazing people who worked in helping professions ( teaching, medicine, nursing). The world would have been poorer without them.

I am not against people doing this but I am glad it was not around when my parents and grandparents started families
 

NothingButLove

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I've been meaning to bring this up for a while now. It's an interesting subject. I found this publication from the NMD Association in the UK:

Inherited MND: Options when starting a family

The UK government seem to be promoting, offering or at least educating people about what the OP suggested. But as NikkiJ pointed out, there a some touchy issues.

First, where does it all end? There's are people who say, "One day we're eliminating babies with C9orf72 and tomorrow it's all babies who don't have light skin, blue eyes and blonde hair." While making such a statement is certainly going overboard, it's a valid point.

My wife had C9. Was her life worth it despite ALS? Hell YES it was. Of course I wouldn't want her aborted or her embryo passed over. On top of that, she past away at 59.5 years. That was the average life expectancy in the US in 1930. ALS is certainly a crazy way to "check out" for all those involved. Additionally, you're probably getting the short end of the stick. However, we all have to eventually "check out" sooner or later from one thing or another.

Abortion raises all kinds of ethical questions. Throw religion into the mix and you've got very strong feelings against Pre-Natal Diagnosis which requires abortion. Of course, there are other options that don't require abortion: pre-implantation genetic diagnosis, gamete donation, adoption and just not having kids.

My wife was the first person in her family to be aware of the defective C9orf72 gene. Her first cousin past away in early 2011 before C9orf72 was discovered. It's just nuts to think that a single generation now has the power to end this curse which has literally plagued her side of the family for thousands of years.

One last thought... It's interesting the UK takes such a progressive approach to FALS. I wonder if it's because of the prevalence of C9 in the UK.

Rob
 

Nikki J

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That is a really excellent resource I had not seen before. Thank you.

I think the UK has the advantage here of having a single payer system and of taking a long term view as they will expect to be paying for the theoretical child’s medical care all its life
 
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