“Having kids was never something we wanted to do,” says Sara. “I was diagnosed with a genetic disorder when I was 13 or 14. It’s hereditary and there is a 50/50 chance of your children getting it.”
The odds did not seem to be in Sara’s favor. The disease, called neurofibromatosis type 2, causes noncancerous tumors along the nerve that carries information from the inner ear to the brain and elsewhere in the body. This genetic disorder has taken its toll on many of Sara’s loved ones.
“My dad is completely deaf. My grandfather had it and he was completely deaf. My aunt has it and is completely deaf. My cousin has it and is deaf in one ear. I have it and am deaf in one ear and losing hearing in the other,” she explains.
“I have four tumors in my brain and another on my spine. The tumors can cause loss of feeling. My dad had one on his shoulder that caused him to lose feeling in that arm.”
On top of the genetic disorder, Sara suffers from polycystic ovary syndrome (PCOS), which led to a diagnosis of female infertility in her mid-20s. Plus, she was 35 years old when she and her husband started exploring pregnancy, she says, “so our chances were already cut down due to my age.”
The odds seemed stacked against her even more.
“I see a neurologist every year and when I was a little older he asked if I ever thought about genetic testing and IVF [in vitro fertilization],” Sara recalls. The specific type of genetic testing the neurologist referred to was preimplantation genetic testing (PGT), which tests embryos during IVF to look for genetic disorders including the number and quality of chromosomes.
These conditions can result in passing along birth defects and genetic diseases to children, such as Sara’s neurofibromatosis type 2 gene. Such genetic defects also can cause an embryo not to implant for a pregnancy and can cause miscarriage after pregnancy. With PGT, the idea is to select only an embryo(s) without genetic defects to implant for pregnancy.
“The idea made me feel a little funny. It made me feel like I was picking and choosing, and I wasn’t comfortable with that,” she says.
After discussing it with her husband and family, the couple realized that genetic testing and IVF could provide an opportunity for the family to grow – but not the disease.
“We looked up Women & Infants’ Fertility Clinic and met with Dr. Wheeler, who is one of my favorite people. She is amazing,” Sara says. “Dr. Wheeler was super straightforward the whole time, which was wonderful. Even though our chances were low, she did everything she possibly could.”
The fertility specialists were able to extract 16 eggs from Sara’s ovaries. Out of those, 14 were fertilized.
“Dr. Wheeler was so good,” Sara said. “She called me a couple of times at night with test results, way after the clinic had closed. She called me around 6:30 p.m. one night and said to me, ‘I just found out how many healthy embryos we have, and I couldn’t wait to tell you!’”
Of the 14 eggs fertilized, 11 resulted in embryos. Preimplantation genetic testing identified one that did not show a genetic defect.
“We ended up with one healthy embryo,” Sara says.
“Just one embryo. And it worked!” She and her husband gave birth to a healthy baby girl just over a year after starting their IVF journey.
“My daughter was born on a Saturday night and first thing Sunday morning, Dr. Wheeler came to see us,” Sara remembers vividly. “She really cares. Everyone there does! – the people who draw your blood and do your ultrasound. I can’t imagine going anywhere else.”
With the help of preimplantation genetic testing, Sara was able to give birth to a child who does not carry the neurofibromatosis type 2 gene.
“It is mind-blowing. She doesn’t have the genetic disorder. Which is crazy to me,” she says. “She never has to worry about passing it on. We’ve stopped the passing on of this disorder in my family.”
Sara says it was very difficult for her to decide whether to have children with the possibility of a genetic disorder. “The more we got into it, the more we learned,” she explains.
“I talked with Dr. Wheeler and everyone at the fertility center. I also talked with my brother, who has this genetic disorder, and he said even doing the IVF and genetic testing, it’s still luck of the draw. So I felt better about that.”
Sara’s husband was supportive of her decision. “He’s super laid back. If I had decided I didn’t want to do genetic testing or IVF, he would’ve been fine with that, too. My daughter’s pretty fantastic, so he’s grateful we did it.”
She admitted that the journey was a difficult process, one that heightens a family’s vulnerabilities. “But it’s the best decision we ever made,” she added. “It’s a tough process, but look what I got out of it!”
In fact, Sara and her husband recently started a second round of IVF. “And I requested Dr. Wheeler again.”