We are proud parents of a spirited little boy who has been diagnosed with a rare genetic disorder that can be life-threatening. This condition was passed down due to recessive genetic mutations. While neither of us shows symptoms, we are both carriers of the gene. Once we discovered we were carriers, we learned that if we were to conceive another child naturally, there would be a 25% chance of having another child with the same condition. Although we always envisioned having more than one child, the reality of this potential risk made us rethink our path. We wanted to do everything possible to avoid putting another child through the challenges we faced.
After two years of thorough pre-conception counseling, we chose to undergo in-vitro fertilization (IVF) with pre-implantation genetic diagnosis (PGD). PGD is a medical procedure that allows embryos to be screened for specific genetic disorders before they are implanted in the womb. This technique has been in practice for over a decade, providing families with hope and the chance to have healthy children. In fact, worldwide, over 2,500 PGD procedures have led to more than 1,600 births of children free from the disorders for which they were screened. The accuracy of PGD is impressive, with an error rate of less than 2%. This effectively reduced our risk of having an affected child from 25% to below 2%.
A little over a year ago, we embarked on our IVF journey with PGD. On Day 3 post-retrieval, when our embryos reached about eight cells, we had a single cell biopsied from each one. These cells were sent to a lab for testing. Once we received the results, we transferred two embryos that were confirmed to be unaffected by the disorder. Fast forward to October of last year, and we were overjoyed to welcome our healthy little boy into the world—an absolute miracle.
For those interested in other thoughtful options for family planning, you might want to check out our blog’s holiday gift guide for kids of all ages, which could provide some great ideas. If you’re exploring ways to enhance fertility, consider looking into fertility supplements, which can be found at Make A Mom. And if you’re keen on understanding more about the IVF process, Healthline offers excellent insights into the journey of in-vitro fertilization.
In conclusion, PGD gave us the opportunity to expand our family while minimizing the risks associated with genetic disorders. It’s a powerful tool for those in similar situations, and we hope sharing our experience can provide comfort and guidance to others contemplating their own fertility journeys.
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