Fertility/Reproductive Medicine Patient Story: Tricia and Eric Fedikovich
Groundbreaking Lab Test Delivers Healthy Twins
Like any four-year-old boy, Lane Fedikovich enjoys being read to by his parents, watching his favorite videos, attending school and observing the antics of his younger brother and sister. But for Lane, these activities can only be experienced from his specially equipped wheel chair or bed. That’s because Lane has a rare genetic disorder called spinal muscular atrophy (SMA).
Lane’s form of SMA – Type l – is the most severe and causes weakness and wasting of the voluntary muscles in the arms and legs, swallowing difficulties and impaired breathing. There is no cure and treatment consists of managing the symptoms and preventing complications.
One in every 6,000 babies is born with SMA, and one in every 40 people carries the gene that causes SMA. For a child to be affected by SMA, both parents must be carriers of the abnormal gene and both must pass this gene on to their child. When both parents are carriers, the likelihood of a child inheriting the disorder is 25 percent, or one in four.
As is the case with many people who have a child with SMA, Lane’s parents, Tricia and Eric, had no idea they carried the SMA gene. Neither of their families has a history of a child with SMA. “We had never heard of SMA before Lane’s birth,” Tricia said. “His diagnosis came as a complete shock.”
In the first years after his birth, Tricia and Eric learned to care for Lane at home without outside nursing help. Their daily routine includes administering treatments with the assistance of machines to help Lane with his breathing and eating. They also became involved with Families of Spinal Muscular Atrophy (fsma.org) to learn more about SMA and available medical treatments. They now offer advice and support to other families through the organization.
As Tricia and Eric adapted to caring for Lane, they also looked to the future. They very much wanted to have another baby, but knew they were at risk of having another child with SMA. To help with the decision, the Fedikovichs turned to Froedtert & the Medical College of Wisconsin’s Reproductive Medicine Center.
Based on their situation, physicians at Froedtert & the Medical College, in collaboration with physicians at Children’s Hospital of Wisconsin, set out to develop a test for SMA using in-vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD). IVF is the process of combining eggs and sperm to form embryos in the laboratory. PGD is a procedure to analyze the genetic make-up of embryos formed through IVF for determination of disease status.
According to Estil Strawn, MD, Medical College of Wisconsin obstetrician/gynecologist and director of the Reproductive Medicine Center, the process required the development of a very sophisticated molecular genetic laboratory test that could accurately analyze a single cell taken from an embryo. “You hear of surgery performed with sutures thinner than a human hair,” Dr. Strawn said. “But with this test, we’re talking about working with something the size of single cell of that hair. This is truly groundbreaking technology.” The Reproductive Medicine Center at Froedtert & the Medical College is one of just several centers in the world capable of doing this type of testing.
The Fedikovichs were more than willing to contribute to the testing process by providing blood samples. And they were thrilled to learn the test could be successfully applied to their own situation. At the same time, they worried about the cost of the IVF procedure. When Eric started a new job as a truck driver for a major beverage company, Tricia carefully reviewed the company’s healthcare policy and discovered it would pay for one IVF procedure in a lifetime. “We were very fortunate to have this coverage. It gave us the chance at having a healthy baby,” Tricia said. “I now always tell people to research their insurance, because policies vary.”
In fall 2006, Tricia and Eric underwent the IVF procedure. The resulting embryos were tested for SMA, and two disease-free embryos were implanted in Tricia’s uterus. In May 2007, she gave birth to a healthy boy and girl – Drake and Vaida – the first babies to be born in Wisconsin using PGD to test for SMA.
For the Fedikovichs, the birth of their twins changed their lives. “For two years, our lives were home-centered caring for Lane. But now we’re a family and we’ve had to open our lives more,” Tricia said. “Lane’s treated just like our other children. When we want to go somewhere, we get him ready and we all just go. Our lives are more healthy and balanced now.” Eric adds, “If it wasn’t for Lane, we may never have had the twins. But his contribution to the testing process helped us and will help other families as well.”