Hey there not sure if anyone knows much about Gonadal Mosaic but that's what the geneticist told me I have meaning that some of my eggs have the mutation and some do not as my daughter has the…Continue
"Hi Betty-Anne, hope you're well. I've sent you a friend request I hope you'll accept, my son has the same exact deletion, 3-11. I've spoken to a few professionals and there are only 7 other known cases of the same deletion…"
"I guess I didnt give all the information that I should have!
Yes the 10%-15% range is misleading, but it was given that you cant take it as gospel and the best way to be certain was to go with IVF/PGD as it would reduce the risk. We were also…"
"The 10-15% chance that is quoted in medical literature is the chance that any woman with an affected son and a negative blood carrier test would have a second affected. It is a risk based on epidemiological studies and is not referring to…"
"We went and saw a geneticist who told us of our chances were in having another child with DMD. As we werent a carrier the chance of it happening again was listed at about 10% through gonadal mosaiciscm. If we went PGD/IVF it would reduce the…"
"IVF/PGD is where eggs are fertilised outside of the body, then the resultant embryos are tested at 3 day of development (when still a small number of cells) for the genetic mutation that caused DMD in your family. Only healthy embryos are then…"
I apologize for the confusion. It is true that there is still a very small chance that a woman can have a second affected son even if she tested negative for carrier status on blood testing. The risk has been quoted as high as…"
I apologize for my delay to your question. If a woman is a gonadal mosaic, then only some of her eggs would be affected, not all of them. Mosaicism means a mixture of cell types, some some would have the DMD mutation and some would not.…"
"I thought that if you were to have gonadal mosaicism all your eggs would be affected not just some of them. I have a 5 year old son with an exon deletion of 8-12. I also have a 3 year old daughter. If i donot have the carrier…"
"Andrew do you have your vitamins written on prescription also, I live in Regina, and my sons calcium and vitamin D are covered by SAIL so are totally free as well as his tylenol, wet wipes, and any other things we need for him"
I am a 45 year old mom of 4 kids. I drove taxi till I got pregnant the year before i was pregnant with Sean. Now I am a full time stay at home mom and enjoying every minute of it.
About my family:
My husband drives Semi-Truck and we have 4 children, Jen, 17, carries DMD and also has A-Typical Autism, ADHD, and a cognitive delay, John, 15, has Aspbergers, ADHD, and OCD, Arthur ,12, has ADHD, Sean, 7, has DMD. My children are my life and I am trying to enjoy every minute of it.
Hi Betty-Anne, hope you're well. I've sent you a friend request I hope you'll accept, my son has the same exact deletion, 3-11. I've spoken to a few professionals and there are only 7 other known cases of the same deletion appearing on worldwide databases. Just wondering how you and your son are doing x
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