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Fals sod1

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AKNate

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Loved one DX
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Hi all,

My husband & I are going through ivf to start a family. We just got the results of our embryo today & it's affected which means my husband 100% has a mutated SOD1 gene. What's confusing me is that no one in his family has it & no one in his extended family either! How is it possible for him to have it & an embryo but no one previously.

I know his gene is of incomplete penetrance, but really?! No one?!?!

I think I'm also just angry that this test confirmed his diagnosis some more...
 

Nikki J

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PALS
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I am sorry that your embryo is affected. It was a 50/50 chance but you knew your husband has the mutation.

You also know it is a rare and I think slow progressing form of SOD1. If it is incompletely penetrant and slowly progressing too it can be hidden deep in family history. people died young, their illnesses were given different names.

I know you are hurting right now. I am sorry for this news. Hugs
 

AKNate

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Messages
179
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Thanks Nikki, everything you said is true... I do know all that stuff... just makes me angry it's real.

I think I just needed to hear that it is possible to have it I buried deep within the family tree... I'm just confused how the embryo had it but no one else before my husband, it's a 50/50 chance down the line & we got a direct hit! How did it skip the immediate family we know about but not this embryo...?! ... sorry, anger again...

At least we have a hit now on the gene so the next batch of embryos will be tested at a 99% accuracy.
 

Nikki J

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Assuming that your husband's mutation was not spontaneous which I am told happens but rarely in sod1 ( it is thought to be more common in c9 though it may be a penetrance issue mostly) then the defect would be present in one of his parents just not symptomatic- in other wors non penetrant

Good luck with the next round
 

AKNate

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Is it wrong that I want to get them tested? Just for my sanity?

Thanks Nikki! We'll be trying again when we get home & settled back into a good routine. My stress levels need to reduce before I'll go through it again.
 

Nikki J

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PALS
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Get who tested? His parents? Or the embryos?

If embryos this is discussed a lot in FALS circles. Most of us had no identified gene until quite recently and the technology has advanced so it is more of an option. Nobody should call you wrong for that. It is a personl choice

If his parents that would be their decision not yours. No one should be pressured into testing. A positive test for one of his parents would be doubly burdensome. They would know they are at high risk and they likely would feel responsible for the illness of their son
 

AKNate

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I meant his parents :( But I see your point of view too..
 

Nikki J

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Joined
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7,356
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PALS
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I am sorry but de novo or inherited your husband has the genetic defect. It makes not an iota of difference to his clinical care, his prognosis or his unfortunate abilty to pass it to his children which it is. It is not like a spontaneous mutation can not be inherited because it can.

I don't understand why it matters so much to you but please do not put this on your in laws.

I would say differently if a PALS who was clearly FALS with an unknown mutation refused testing. People disagree on this but I feel that it is owed to at risk family members to try to identify the family mutation so they might choose testing, ivf and , hopefully soon, genetic preventative treatments in this case the PALS just puts a name to the mutation they know they have but gives great benefit to their family.
 

AKNate

Distinguished member
Joined
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Messages
179
Reason
Loved one DX
Diagnosis
10/2016
Country
AUS
State
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I won't push it on them, it would be their choice. I'm just curious I guess. Knowing things makes me feel calm... any certainty with this disease helps me deal with it...
 
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