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Betty-Anne Heft
  • Female
  • Regina, SK
  • Canada
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Gonadal Mosaic

Started this discussion. Last reply by Jonathan Nov 21, 2012. 17 Replies

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

 

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Latest Activity

Keasha Roberts left a comment for Betty-Anne Heft
"My son, Dallin, has a 3-11 deletion, also. I haven't met very many people with that deletion! "
Apr 22, 2014
Betty-Anne Heft posted photos
Dec 9, 2013
omaira left a comment for Betty-Anne Heft
"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…"
Dec 9, 2013
Jonathan replied to Betty-Anne Heft's discussion Gonadal Mosaic
"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…"
Nov 21, 2012
lisa burke replied to Betty-Anne Heft's discussion Gonadal Mosaic
"I would also like to add that any reputable clinic should offer a less than 1 in a 1000 chance of error when performing PGD/IVF. If you are not quoted these 'odds' then I would look elsewhere."
Nov 20, 2012

Staff
Ann Martin replied to Betty-Anne Heft's discussion Gonadal Mosaic
"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…"
Nov 19, 2012
Jonathan replied to Betty-Anne Heft's discussion Gonadal Mosaic
"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…"
Nov 18, 2012
lisa burke replied to Betty-Anne Heft's discussion Gonadal Mosaic
"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…"
Nov 15, 2012
Kathleen Devine replied to Betty-Anne Heft's discussion Gonadal Mosaic
"what is IVF/PGD??"
Nov 14, 2012

Staff
Ann Martin replied to Betty-Anne Heft's discussion Gonadal Mosaic
"Hi Janine, 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…"
Nov 13, 2012

Staff
Ann Martin replied to Betty-Anne Heft's discussion Gonadal Mosaic
"Hi Kathleen, 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.…"
Nov 9, 2012
lisa burke replied to Betty-Anne Heft's discussion Gonadal Mosaic
"I was told by our geneticists that 'spontaneous mutation' simply meant that there was no family history of that mutation in the family and that no-one else in the family is affected."
Oct 27, 2012
Kathleen Devine replied to Betty-Anne Heft's discussion Gonadal Mosaic
"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…"
Oct 26, 2012
Betty-Anne Heft and Geraldine Coolidge are now friends
Jan 26, 2012
Betty-Anne Heft replied to Andrew Kerr's discussion Deflazacort is now covered in Saskatchewan in the group Canadian Families
"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"
Dec 14, 2011
Andrew Kerr and Betty-Anne Heft are now friends
Dec 13, 2011

Profile Information

About me:
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.
Age(s) of child(ren)/individual(s) with Duchenne:
7-12
City:
Regina, Saskatchewan

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At 10:12pm on April 22, 2014, Keasha Roberts said…

My son, Dallin, has a 3-11 deletion, also. I haven't met very many people with that deletion! 

At 2:52am on December 9, 2013, omaira said…

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

At 3:59pm on December 8, 2011,
Staff
PPMD
said…

Welcome Betty-Anne. We hope using the community site to connect with families all over the world to share stories, news, and information about Duchenne is empowering for you and your family.

 

Please don't ever hesitate to contact us by phone, email, or message if you & your family need anything or have any questions -- 800-714-5437 - community@parentprojectmd.org

 

And if you haven't already, we hope you consider registering on PPMD's main website. Registering allows us to send you information tailored to parents of boys with Duchenne, e-newsletters, additional web-based research reports, and other information specifically targeted for members of the community.

 
 
 

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