A Sickle Cell Patient’s Story
When a couple falls in love and decides to spend their lives together, they often have a lot in common, like goals, interests and hobbies. Sometimes, two people have something they’d rather not share. Inheritable genetic disease can be passed down to the next generation when two parents each carry a defective gene.
This was the case with two patients at our San Antonio fertility center. They are symptomless carriers for sickle cell disease, a condition that causes normal red blood cells to become misshapen, like crescent moons. This interrupts the normal flow of blood though vessels and causes fatigue, swollen hands and feet, infections and episodes of intense pain.
An internet search for preimplantation genetic diagnosis, PGD for sickle cell, led them to Dr. Summer James and our San Antonio fertility center. Knowing that they had options for protecting their baby gave this couple peace of mind and the resolve to plan for a healthy pregnancy.
A winding road to a family
The young couple, married in 2013, had already started trying to get pregnant when complications arose. Endometriosis, a miscarriage and the revelation that the couple carried the sickle cell trait detoured their plans, but Dr. James got them back on track.
“I was told that if we did become pregnant, there was a 1 in 4 chance of the baby having sickle cell, and I wouldn’t want to take that chance,” says the hopeful mom-to-be. She researched PGD for sickle cell and found our San Antonio fertility specialist. “I thought, ok, someone knows about it. Dr. James was very helpful and thoroughly explained the PGD process and the cost. She let us take our time making a decision.”
Dr. James performed a laparoscopy to treat the endometriosis, and then started an IVF cycle that included PGD for sickle cell. Embryologists in our San Antonio fertility center extract cells from each IVF embryo to send to a reference lab for biopsy.
The embryos are then frozen and stored until results arrive. Then, the unaffected embryos are transferred back to the uterus. Dr. James recommended waiting a bit longer so that her patient could have a lump in her breast checked out. The patient was cleared to have the single embryo transfer this summer. Within two weeks she had the results.
A positive pregnancy after PGD for sickle cell
After having her blood drawn, our San Antonio fertility center nurse called with the good news that the IVF was successful.
“I called my husband with the news straightaway,” she recalls. “I would recommend that friends, family and co-workers who are struggling to conceive, or are concerned with genetic conditions, see Dr. James and Texas Fertility Center San Antonio.”