PGD testing for Duchenne

I'm not sure exactly where this topic should be posted but this might be a good spot.
I carry the gene for Duchene MD. My brother passed away at 24 with the disease a year and a half ago.
I've just gone through a cycle of IVF with PGD (pre-genetic diagnosis) which tests the embryos for the disease before the embryos are implanted back into the uterus.

I'm wondering if anyone knows anyone I could talk to, or if anyone had this procedure done. I'm also planning on an appeal with my insurance to see if they'll cover it.
The test with PGD only costs 6k. As you all know, raising a child with Duchene costs beyond that with medications, wheelchairs and ultimately for us, funeral costs.

Any thoughts or advice would be great!

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Permalink Reply by Jennifer Bauer on April 16, 2012 at 10:46pm

What is the concensus about doing the amnio test?  Since the sex of my baby was confirmed as a female so the worst she can be is a carrier like me.  The PGD testing is 97% accurate so it is a good bet my baby won't even be a carrier.  My doc and genetic counselor say I should not do it.  I am worried about the risk.  I would be devasated after all I've gone through if something went wrong.  There is a 1.6% chance of a microdeletion or duplication but this can happen with any pregnancy.  Are we just going test crazy?  I want to do the right thing but am torn.  Anyone like to share their experiences with me??

Thanks!

Jen

Permalink Reply by Jessica Rownd on April 16, 2012 at 10:57pm
If I was in your shoes I would not do the amnio. I did pgd...I am not a carrier but didn't want to risk it. I did not do the amnio. I was too happy to be pregnant and like you didn't want to risk it any more. Good luck
Permalink Reply by lisa burke on April 17, 2012 at 6:33am
Hi Jennifer. I'm so happy to hear you're having a lovely little girl! It's only my opinion, but in your position i wouldn't have the amino. I was also told that the accuracy of pgd is 97%, but the clinician we saw
let slip that it's actually pretty much 100%. Clinics just don't like to deal in 'guarantees'. I chose to have cvs testing, but not because i was worried about the pgd being inaccurate - rather that I'm a slightly older mum and i wanted to check for other potential problems. Relax, your little one is fine - she's not a carrier of the mutation in your family. And the chance of her being a carrier of a different dmd-causing mutation? Tiny. Utterly minuscule, honestly. Relax and enjoy this wonderful, exciting time. Keep us posted when she's born.
Permalink Reply by Tammy Henegar on April 17, 2012 at 12:27pm

I would like to reach out to Erica as well if anyone knows how to get a hold of her. I am also in Ohio, and am trying to start a parents group here.  Please advise if anyone knows how to get a hold of her, or you can pass my e-mail along to her at thenegar2000@hotmail.com.  Thank you.



Kim Maddux said:

Brody's mom is Erica or "Ric". She is in Ohio. She did do it. I did it too 3 years ago. My insurance did not pay for it either. My doctor sent a letter to our insurance. Good luck. I hope your insurance is more understanding.

fyi - My twins just turned 2 :-)
Permalink Reply by Jennifer Bauer on April 17, 2012 at 4:39pm

Thanks Lisa! I really appreciate your well wishes and advice.  I having been leaning towards not doing the test and hearing from the women in the group has really helped me with the decision. 

Permalink Reply by Mindy on April 17, 2012 at 5:54pm

Hi guys - mutations that come from a deletion are more likely to be accurate with PGD that something like downs, which has a duplication. My understanding (and it may be wrong, so clarify with your geneticist is this). With downs, there are two potential issues - cellular mosaicism (where some cells have the added chromosome and some don't) and the spontaneous deletion of the duplicated chromosome in the one cell sample.

 

DMD doesn't have that cellular mosaicism, to my knowledge - every cell has the deletion, since it came from the original cell. Also - it would be highly unlikely, if your mutation is a deletion, for a cell to contain that deletion and then accidently grow back the particular exons that were originally deleted.

 

Hope that makes sense, but for me, it was enough to not go through with invasive testing like an amnio with both pregnancies.

Permalink Reply by Jennifer Bauer on April 17, 2012 at 6:58pm

Thanks Mindy!  That sounds like some reall high level genetics.  I also did PGS on the embryos before I did the PGD for DMD.  My genetic counselor said that since I did all this testing that I am like a 20 year old getting pregnant ( I am 33 now).  I am going to cancel my appt for the amnio, I have heard a lot more negatives than positives about that test. 

Permalink Reply by lisa burke on April 18, 2012 at 4:37am

Hi Jennifer,

I'm glad we were able to help you feel better about making a decision. For anyone else thinking of options it's probably worth adding that amnio (and CVS) are really pretty safe procedures but, with the testing you've already had, I would say there's really no need to take the (very small) risk in your case.

Happy, happy pregnancy! It's the BEST time.

 

 

Permalink Reply by Ofelia Marin on April 18, 2012 at 1:37pm

I had my son with Duchenne at 33, I am not a carrier so it was totally unexpected. I decided to have CVS with my daughter at 35. It was a very easy procedure (fast and pain free), I was just careful when selecting my OBGYN specialized in high risk pregnancies. I would do it again w/o thinking twice, I felt so much better knowing at 11 weeks that she doesn't have Downs or trysomy or whatever. Obviously, since my son's Duchenne was such a shock I was obsessed to test as much as possible. They even tested me before pregnancy for CF and SMA carrier status just to rule out whatever possible -- I am not a carrier of any of them.

Jennifer Bauer said:

Thanks Mindy!  That sounds like some reall high level genetics.  I also did PGS on the embryos before I did the PGD for DMD.  My genetic counselor said that since I did all this testing that I am like a 20 year old getting pregnant ( I am 33 now).  I am going to cancel my appt for the amnio, I have heard a lot more negatives than positives about that test. 

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