And Baby Makes Four: Knowledge is Power for Young Family Managing Hemophilia
Like many new parents of a child with hemophilia, Heidi Reitano had no idea she was a carrier of hemophilia. When son Tyler was born almost two years ago with blood in his lungs, no one knew what might be causing it. In fact, it wasn’t until a routine circumcision at the pediatrician’s office required a visit to the emergency room that hemophilia was diagnosed.
Heidi remembers that night well. “He bled so much after his circumcision that we went to the ER, and even then, the triage nurse told us to go to the end of the line. At first the doctors thought it was a lack of vitamin K, but after that proved not to be the case, a PPT clotting test was done, and at 11 p.m., a test for hemophilia was done. By midnight, we had the diagnosis of severe hemophilia A.”
Heidi and her husband quickly became educated on the condition and learned how to manage their son’s care. They infuse at home as a team three times a week. “I prepare the factor and my husband holds Tyler and comforts him while I administer the infusion. It’s worked very well for us.”
But a crucial piece of information was still missing for Heidi: Who passed this genetic disease on to her son, and what were the chances that it would happen with subsequent children? She turned to a genetics counselor affiliated with her Arizona hemophilia treatment center (HTC) and discovered that she was a carrier. What swirled through Heidi’s mind then was a range of uncomfortable emotions—disbelief, shock, guilt, and distress. “I was so upset I had passed this on to my son,” she says. “We also learned that I had a 50/50 chance of having either another boy with hemophilia or a girl who would be a carrier of the hemophilia gene.”
Mom and son
Adding to the puzzle is the fact that Heidi’s mother, who was also tested, is not a carrier. “The genetics counselor says it’s possible my mom has a germ line mosaic, which means only some of her eggs had the affected gene, but the chances of that are less than one percent.” The most likely scenario is that Heidi developed a spontaneous mutation.
The counselor also discussed Heidi’s options, including the very new pre-implantation genetic diagnosis. “It’s very expensive, not covered by most insurance, and there’s only a 65-percent chance that it would work if we implanted two embryos.” (For more information, Who Gets Hemophilia?.)
The information she gained is the real value of genetic testing, according to Heidi. “I’m happy we went through the testing and now understand the process and what the risks are. It’s so important to be informed.”
But being armed with knowledge does not necessarily mean acting on it. “I have a strong faith and I don’t want to mess with nature or God’s plan for us,” says Heidi. “So we’re considering all our options—the pre-implantation genetic diagnosis as well as just taking a chance and going the natural route.”
Whatever the final decision, Heidi considers herself “blessed with how well Tyler is doing. He barely had any bruising the first year of his life and he hasn’t had a bleed since his circumcision. We are very lucky.”