Overcoming the Genetic Odds
The Blair Family
Every morning, little Kynli Rae Blair wakes up to the sight of a hummingbird painted on her nursery wall. Someday her parents will tell her how hummingbirds seemed to appear at key moments in their journey to bring her into the world, giving them hope just when they needed a sign that they were on the right path.
First grade teacher Michelle Blair and her husband Brian had always wanted children. “We started trying soon after getting married in July 2009,” she says. “But – and I can’t explain this – my intuition told me that I might have trouble getting pregnant.”
After two miscarriages in 2010 and 2011, it seemed her fears were being realized. So the couple turned to Abington Memorial Hospital, where doctors deliver approximately 5,000 babies a year and families have access to experts in fertility, high-risk births and neonatal care.
A Rare Imbalance
To find a root cause for the miscarriages, Michelle was referred to Jennifer Nichols, DO, at Abington Reproductive Medicine, for a battery of tests.
A close look at the genetic makeup of Michelle’s chromosomes revealed that she had what’s known as a “balance translocation,” a rare defect that affects only three to five percent of the population.
“We were devastated,” Michelle says. But not deterred. She and Brian first tried five cycles of intrauterine insemination (IUI), in which Michelle was given medication to produce more eggs and Brian’s sperm was injected directly into her uterus. When that was unsuccessful, they proceeded to in-vitro fertilization (IVF), which involved retrieving Michelle’s eggs and manually injecting them with a single sperm (a process called intra-cytoplasmic sperm injection (ICSI)). A single cell from each of the resulting embryos was then tested for genetic abnormalities, a process called preimplantation genetic diagnosis (PGD).
Once Michelle started the IVF process, the universe seemed to be sending out a sign that she was on the right path. “My entire family started noticing hummingbirds everywhere,” she says. “We took that as a sign of hope.”
On July 17, 2012, two viable embryos were implanted in Michelle’s uterus. A week went by, and Michelle returned to Dr. Nichols’ office for a blood test. And then came a voicemail message.
“It was Dawn Marie, one of the nurses from Dr. Nichols’ office,” Michelle recalls. “And she was singing, ‘You are pregnant!‘”
A Much-Anticipated Arrival
On April 9, Michelle and Brian welcomed Kynli Rae at Abington Memorial Hospital.
“I had the best birth experience at Abington Memorial,” she notes. “The private labor and delivery and postpartum rooms were comfortable and enormous. And Kynli Rae was able to stay with me the entire time.”
Her words of advice to other struggling couples: “Stay focused on the end result, and take one step at a time.” And, perhaps, hold out for any hopeful signs, which may keep popping up when you least expect them.
Consider this: On his very first Father’s Day in June, Brian suddenly noticed a flicker of movement in the sky.
It was a hummingbird.