Andi
08-16-2006, 04:37 PM
Hi everyone, I haven't been around much lately -- I hope summer is going beautifully for all of you!
Well, we are finally officially starting on the IVF journey, and I'm not sure this is the best place to post this, but since everything else related to this is in this forum, I'll stick it here. :)
Basically, we had to wait until Dr. Hughes (at Genesis Genetics in Detroit) was able to create a preimplantation diagnostic test (PGD) to identify the syndrome as it appears in my family. So my mom and I, and my DH, had to submit blood samples to him and then his lab got to work. This took a while, I think because of the deletion that causes our Saethre-Chotzen syndrome, so he had to go through three DNA probes to find a reliable pattern in my mom's and my DNA around the deletion area. This was a pretty complex genetic issue to understand for us, so I'll not get into too much detail, but basically this means that this test is very specifically for the way SCS appears in my family, so it's a much more positive identifier of the presence of SCS in a one-cell test than say, a FISH test (which the Children's Hospital of Phila. had proposed initially for us). Anyway, it took them a couple months to develop the test, and we finally learned this past Monday that they are ready! So we are starting the medications and I should be ready for the egg retrieval early next month.
The crazy part is... after my eggs are retrieved and fertilized, they sit in a dish for three days, then one cell is taken out of each embryo. These cells are then couriered immediately to Detroit, and they are analyzed by people who work all night, 19 straight hours, to get the results. The results are called back to my clinic, and then, presuming there's syndrome-free embryos, we decide which ones and how many to put back into me. That transfer should occur about five days after the eggs are retrieved. A couple weeks later I get a blood test to see if I'm pregnant!
We had a chance to talk with Dr. Hughes about all of this, and I asked him if this process had been done before for SCS -- he said in the last year they had helped 13 families with this same syndrome. I was amazed and suprised and glad to hear that, because I had doubted myself whether this was the right thing to do for so long. But it was good to hear that other people had taken this path before us.
I wanted to share how this was going, in case anyone was considering a similar process. It has been a long road getting this far, but I do feel it's worth it. I'm also very excited to get started! I will definitely keep in touch about how it works out.
Well, we are finally officially starting on the IVF journey, and I'm not sure this is the best place to post this, but since everything else related to this is in this forum, I'll stick it here. :)
Basically, we had to wait until Dr. Hughes (at Genesis Genetics in Detroit) was able to create a preimplantation diagnostic test (PGD) to identify the syndrome as it appears in my family. So my mom and I, and my DH, had to submit blood samples to him and then his lab got to work. This took a while, I think because of the deletion that causes our Saethre-Chotzen syndrome, so he had to go through three DNA probes to find a reliable pattern in my mom's and my DNA around the deletion area. This was a pretty complex genetic issue to understand for us, so I'll not get into too much detail, but basically this means that this test is very specifically for the way SCS appears in my family, so it's a much more positive identifier of the presence of SCS in a one-cell test than say, a FISH test (which the Children's Hospital of Phila. had proposed initially for us). Anyway, it took them a couple months to develop the test, and we finally learned this past Monday that they are ready! So we are starting the medications and I should be ready for the egg retrieval early next month.
The crazy part is... after my eggs are retrieved and fertilized, they sit in a dish for three days, then one cell is taken out of each embryo. These cells are then couriered immediately to Detroit, and they are analyzed by people who work all night, 19 straight hours, to get the results. The results are called back to my clinic, and then, presuming there's syndrome-free embryos, we decide which ones and how many to put back into me. That transfer should occur about five days after the eggs are retrieved. A couple weeks later I get a blood test to see if I'm pregnant!
We had a chance to talk with Dr. Hughes about all of this, and I asked him if this process had been done before for SCS -- he said in the last year they had helped 13 families with this same syndrome. I was amazed and suprised and glad to hear that, because I had doubted myself whether this was the right thing to do for so long. But it was good to hear that other people had taken this path before us.
I wanted to share how this was going, in case anyone was considering a similar process. It has been a long road getting this far, but I do feel it's worth it. I'm also very excited to get started! I will definitely keep in touch about how it works out.