I was just curious to know if any non-carrier mom's were on any type of medication during their pregnancy of a child diagnosed and the father didn't have the disease.

Naomi

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Hi again,

Someone mentioned seizure meds--just because they can cause side effects that resemble DMD traits, like muscle weakness does not mean that it is causing a genetic change in you that you can pass on to a child. I believe the possible birth defects caused by anti-epileptic drugs would be a developmental birth defect vs a genetic one. My son has epilepsy as well as MD, and there were certain drugs his neuro was unwilling to try because of side effects like muscle weakness and weight gain; she didn't want to add to his weakness. He ended up with a Vagal Nerve Stimulator (it's like a pacemaker), which has kept him seizure free for over two years now. He still takes meds, but at much lower dosages than before. Before he had the VNS implanted he was taking 3 meds with a total of 13 pills a day, he now is only on two meds and only takes 5 pills a day.

It is such a complicated issue and we have too much to deal with without beating ourselves up over what is just a really crappy (sorry) roll of the genetic dice.

Susan
Yes Christine, my AFP's were elevated as well during my pregnancy. They completed further testing to rule out spina bifida which was negative and told me everything was fine. At the time I asked the doctor's is there was any correlation, and they told me most women do not have AFP's tested( not routine) and they had never heard of it before... but here you are.

Interesting. Eunce

christine good said:
Naomi,
I am currently having carrier testing done. Since there is no sign of it in my family anywhere, I believe that I am not a carrier. I remember when I was pregnant with Kian, my AFP's were irregular and I had to have an amnio to rule out Downs. I was very careful during all of my pregnancies, but I was wondering if anyone else had abnormal AFP's.
Hello,MY WIFE IS NOT A CARRIER,SHE HAVE 8 BROTHERS AND 4 UNCLES ALL HEALTHY.Since she was pregnant we did few traveling in europe at her 5th month of pregnancy she had kind of flu she been on antibiotic,also I'm thinking about the x ray at the airports???.can that be possible?

Eunice Lunsted said:
Yes Christine, my AFP's were elevated as well during my pregnancy. They completed further testing to rule out spina bifida which was negative and told me everything was fine. At the time I asked the doctor's is there was any correlation, and they told me most women do not have AFP's tested( not routine) and they had never heard of it before... but here you are.

Interesting. Eunce

christine good said:
Naomi,
I am currently having carrier testing done. Since there is no sign of it in my family anywhere, I believe that I am not a carrier. I remember when I was pregnant with Kian, my AFP's were irregular and I had to have an amnio to rule out Downs. I was very careful during all of my pregnancies, but I was wondering if anyone else had abnormal AFP's.
Maybe I don't understand this correctly, but isn't the gene damaged from the moment of/before conception? I mean, the chromosome comes from the mother, but it's already fully developed when it joins with the Y from the father, right? Or IS there a chance the gene mutates after conception?
You are correct, the gene mutation is there from day 1 of the embryo. Nothing one does/doesn't do during pregnancy is relevant.

Tracey Hartz said:
Maybe I don't understand this correctly, but isn't the gene damaged from the moment of/before conception? I mean, the chromosome comes from the mother, but it's already fully developed when it joins with the Y from the father, right? Or IS there a chance the gene mutates after conception?
The gene mutation is present from day 1. I don't believe that anything we did during pregnancy caused Duchenne. The boys carry the mutation in their DNA, in every cell. If the mutation were mosaic (carried only in a portion of cells), they probably would be functional, since researchers are saying that only a percentage of dystrophin is required to maintain functionality.

My theory is that all of us who are not carriers are germline carriers to some extent (it's in our eggs). That means that the mutation happened when we were embryos carried by our own mothers. The question is how many of our eggs are affected...and that's a question that can't be answered until more women do IVF with PGD (my answer: around 15% with both rounds of IVF).
I'm not a carrier (been tested) and there is no family history of DMD. I didn't take any medication during my pregnancy and everything was described as 'text-book'. I had the triple test for Down's - which was obviously negative. I worried for a long time that I had 'caused' my son's DMD by drinking some alcohol one day (before I knew I was pregnant) but every geneticist I have seen has said that it's simply impossible. That the fault in the dystrophin gene was there from the very moment of conception.
During PGD I had 10 eggs collected and non of them were found to be affected by Duchenne.
Wow - Lisa - that's really interesting. You're the third person I know (including myself) that is not a carrier that did IVF with PGD. One had 75% of eggs affected, I had 15%, and you had none (which I would guess means that the mutation happened when almost all of your eggs were developed, so only a minute portion had the mutation).

What that tells us is that the figures people tell us about recurrent risk if we're not carriers are very unreliable. There is simply no way to predict how many of our eggs are affected - and the number can be anywhere from all to 1, it seems...

BTW - were you successful in your IVF? I hope yes.
Mindy,

That was my opinion from the start, that we can have any number of eggs affected. In fact, Mendell told me the same when Robert was diagnosed, only that he does not think that all/most or our eggs can carry the mutation. I really think that they need to stop giving any % for non-carriers like us.


Mindy said:
Wow - Lisa - that's really interesting. You're the third person I know (including myself) that is not a carrier that did IVF with PGD. One had 75% of eggs affected, I had 15%, and you had none (which I would guess means that the mutation happened when almost all of your eggs were developed, so only a minute portion had the mutation).

What that tells us is that the figures people tell us about recurrent risk if we're not carriers are very unreliable. There is simply no way to predict how many of our eggs are affected - and the number can be anywhere from all to 1, it seems...

BTW - were you successful in your IVF? I hope yes.
My Daughter has been tested and she isn't a carrier. Her 1st was has DMD but the younger son dosn't.

Ofelia Marin said:
Mindy,

That was my opinion from the start, that we can have any number of eggs affected. In fact, Mendell told me the same when Robert was diagnosed, only that he does not think that all/most or our eggs can carry the mutation. I really think that they need to stop giving any % for non-carriers like us.


Mindy said:
Wow - Lisa - that's really interesting. You're the third person I know (including myself) that is not a carrier that did IVF with PGD. One had 75% of eggs affected, I had 15%, and you had none (which I would guess means that the mutation happened when almost all of your eggs were developed, so only a minute portion had the mutation).

What that tells us is that the figures people tell us about recurrent risk if we're not carriers are very unreliable. There is simply no way to predict how many of our eggs are affected - and the number can be anywhere from all to 1, it seems...

BTW - were you successful in your IVF? I hope yes.
Yes I was initially very sceptical about the statistics given to me about the risk of having another child with DMD (and I remain so). I cannot see how the risk factor of a '5 to 20%' chance has been calculated and no-one I ask (doctors/scientists/geneticists ect) seem to know how this figure came about either.

I often wonder if EVERY woman on earth has some eggs that may contain the DMD mutation, and it's just the 'luck' of the draw as to which ones surface during ovulation and create a baby? Of the 380 - 450 times a woman will ovulate in her life (drawing from the bank of many thousands of eggs) it is entirely possible that one/some with mutations can/ will turn up sometimes. And DMD isn't the only genetic condition that arises spontaneously (i.e without either parent being a carrier) so I wonder if maybe a proportion of every woman's eggs have various mutations?

What I do know for sure is that DMD is not caused by anything we did/didn't do. It is nobody's fault.


Mindy said:
Wow - Lisa - that's really interesting. You're the third person I know (including myself) that is not a carrier that did IVF with PGD. One had 75% of eggs affected, I had 15%, and you had none (which I would guess means that the mutation happened when almost all of your eggs were developed, so only a minute portion had the mutation).

What that tells us is that the figures people tell us about recurrent risk if we're not carriers are very unreliable. There is simply no way to predict how many of our eggs are affected - and the number can be anywhere from all to 1, it seems...

BTW - were you successful in your IVF? I hope yes.
I was told that the risk percentage was calculated based on known cases of non-carriers who happened to have more than one child with DMD.

What that doesn't figure in is the women with only one DMD child that got a "good egg" with subsequent children. Or women with one DMD child that might be germline carriers who decided not to have additional children, both of which would skew the percentages.

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