Timing

Our PGD consultation appointment this week went well. We met our new genetic counselor A. and were guided through the whole PGD process.

Before we can start anything, we need to have our family PGD system set up. The set up process involves confirmation of our SLOS gene mutations, as well as linked DNA markers. The linked markers provide a back up system, similar to DNA fingerprinting, to help determine which copies of the SLOS gene the embryo contains in a very short amount of time with a very small fraction of DNA. They will look for as many linked markers as possible in both of us, along with Faith. The more unique the markers the better the accuracy in detection. We were told that there is a 95-98% accuracy in detection, which also means there is a 2-5% chance of misdiagnosis.

The entire PGD process happens within five days of fertilization, five days after they have removed my eggs. I can't believe what they are able to accomplish in such a short amount of time. On the fifth day, they would provide us with how many embryos we have that they would recommend for transfer along with the accuracy associated with them. We then get to decide which embryo(s) we would like to transfer, and the transfer occurs on that same day. We are interested in freezing our unaffected embryo's and donating our affected embryos for SLOS research, but still looking into who these embryos would be donated to.

Once our PGD system is set up, we can move forward with the IVF process. We were told we cannot start any IVF hormones until the PGD system is ready. We set up our IVF consultation for the 19th of this month, and we will be completing our lab work throughout the remainder of the year. If timing is right we may be able to cycle before the end of this year, but there is a lot which needs to be ready first, either way what ever was meant to be will be.