Pre-Implantation Genetic Diagnosis Helps Couple Who Lost Their Son to Rare Genetic Disorder
UH Fertility Center Gives New Hope to Couple Who Lost Their Son to Rare Genetic Disorder
Nicole and Brian Hardman of Avon Lake, Ohio, knew early that they wanted to start a family. Longtime childhood friends, the couple started dating in college and had been married five years when they celebrated the birth of their first child, Lucas Patrick Hardman.
“He had the most amazing blue eyes, and we instantly fell completely in love,” said Nicole, speaking of baby Lucas. “Everything seemed perfect.”
But the Hardmans soon learned that their son had a rare genetic skin disease called epidermolysis bullosa (EB), a group of rare connective skin tissue disorders that affects 1 out of every 20,000 live births in the U.S. EB causes the skin to blister and tear with even the slightest friction, and in severe cases can cause internal blisters in the nose, mouth, esophagus, stomach and lungs. Children with this disease are often called “butterfly children” because their skin is so fragile. Doctors told the Hardmans their son had the rarest and most severe form of EB, and gave him a life expectancy of less than two years.
Then, when Lucas was five weeks old, he was rushed to the hospital after he began having trouble breathing. The Hardmans were told that the blisters forming in his lungs were causing them to shut down. Doctors allowed the Hardmans to take Lucas home, and he died later that day in his mother’s arms.
Genetic Testing Unravels the Mystery of EB
A few months after Lucas passed away, doctors did genetic testing on Lucas’s blood samples that had been collected, as well as on both of the Hardmans.
Genetic testing at University Hospitals’ Department of Human Genetics confirmed that Lucas had two EB-causing genes, and that Nicole and Brian each carried one of these genes. This meant that any future children they conceived would have a 25 percent chance of having the most severe and fatal form of EB, just like baby Lucas.
Saddened by the reality of the genetic test results, the Hardmans believed they could not have any more biological children.
“While 25 percent may seem like a small number, it was too much of a risk for us. We could not let another baby suffer the way our little Lucas did,” said Nicole. “So we had resigned ourselves to the fact that we could not have any more biological children of our own. It was a very hopeless feeling.”
Innovation at University Hospitals Provides Solutions
Then the Hardmans learned about James Goldfarb, MD, and his work in pre-implantation genetic diagnosis (PGD), a technique that determines whether a genetic condition carried by a parent is handed down to the egg or embryo. Dr. Goldfarb is medical director at University Hospitals Fertility Center. The couple was thrilled to find the program at University Hospitals MacDonald Women’s Hospital was intended for families just like theirs.
“The team understood our fears and concerns, and gave us nothing but reassurance and positive feedback about PGD. After hearing them speak, we knew we wanted to try and have more children,” said Nicole.
Partnership for Families Offers a Miracle
The team told the Hardmans about Partnership for Families and how the program could cover the cost of the procedure. The Partnership for Families program offers financial assistance for in vitro fertilization (IVF) to qualified families that have genetic concerns, cancer diagnosis or failed previous IVF attempts. Dr. Goldfarb and family friend Nancy Lerner Fisher started the Partnership for Families program in 2004. Since that time, the program has provided approximately 280 financial awards, most to couples who do not have biological children together and are not able to afford treatments.
Healthy Callie Rose Hardman is Born
About one year after the death of baby Lucas, Nicole Hardman underwent an implantation procedure using embryos that had tested negative for EB using pre-implantation genetic diagnosis. Then on March 9, 2013, the Hardmans celebrated the birth of their daughter Callie Rose, a healthy newborn.
“Callie can do so many things that her big brother never had the chance to do,” Nicole said. “She can wear regular clothes without worrying about the seams hurting her skin. She can wiggle and play as much as she wants without giving herself blisters. And most importantly, I can cuddle her and kiss her as much as I want, and it doesn’t hurt her.”
Along with enjoying their beautiful baby girl, the Hardmans are helping to spread the word about Partnership for Families. The have also been raising awareness of EB, creating a website, love4lucas.com, and raising money (nearly $40,000 to date) to benefit the Dystrophic Epidermolysis Bullosa Research Association of America (DebRA).
Nicole and Brian Hardman are so grateful to University Hospitals, Dr. Goldfarb and Partnership for Families for giving new hope to families. “I hope that each and every one of you knows that your donations to families like mine are creating miracles every day,” said Nicole. “We will never, ever forget how lucky we are to have our Callie Rose. We will never forget the angels at Partnership for Families who made Callie’s birth possible.”