Many of you have followed our heartbreaking journey last year with baby Andrew having a unbalanced translocation. He had a duplication on Chromosome 10 and a deletion on Chromosome 17. The deletion on 17 causes Miller-Dieker syndrome. Severe intellectual disability, possible feeding tubes, seizures, low muscle tone, and a list of other problems along with a heart defect.
We both did a chromosome analysis test, Chad’s came back normal and it was confirmed that I am a carrier of a Balanced translocation between chromosomes 10 and 17. Which is what caused Andrews unbalanced translocation.
A translocation is when 2 or more chromosomes are broken off and reattached to each other. I am balanced meaning no genetic material was lost or gained so I’m completely normal. When I go to reproduce if the translocation does not pass off exactly like mine it is considered unbalanced meaning too much genetic material was lost or gained and the baby will likely miscarry, be a still birth or born with serious defects. It is commonly passed on from a parent.
We spoke with a Reproductive Endocrinologist about our options, Naturally vs IVF (in vitro fertilization). Naturally we could possibly go through multiple losses before we get a healthy baby. IVF they would stimulate the ovaries to help as many eggs mature as possible, once fertilized they would be sent for Preimplantation genetics screening. Any normal/balanced embryos would be frozen and 1 would be transferred at a time. We’ve decided that IVF would be our best choice but the price for a IVF is outrageous. We are able to apply for a grant which will cover the cost of the IVF portion if we get approved. But it doesn’t cover medication or the PGS/PGD testing. Which is the reason we are doing a GoFundMe.
Chad and I are so grateful for the outpouring of love and support that we got from our friends and family through everything. And we’re ready to try again. As most of you know we would absolutely love to have a baby of our own. But we need your help!