I Got Through My Son’s Hemophilia Diagnosis One Step at a Time

Julian was only a baby when he received his hemophilia diagnosis, and it came as a big shock to me. I remember how much I enjoyed the newness of having a beautiful son who looked perfect. Then, the first bruise appeared.

Julian has severe hemophilia A, also known as factor VIII deficiency or classic hemophilia. It’s a genetic disorder that results when the clotting protein factor VIII is missing or defective.

After his diagnosis, I made a point of finding out everything I could about this disorder, and one of the first books I read was Laureen A. Kelley’s “Raising a Child with Hemophilia.” I cried while reading. There was so much to learn, and it was hard for me to believe that the issues raised in this book — like other people’s reactions to the bruises —  would become Julian’s story. Was this his future?

The book quickly taught me that I needed to focus on one issue at a time. Worrying about the future was too much. Still, my research continued. I read pamphlets and articles, and attended workshops. When a word came up that I hadn’t heard yet, I would make a mental note of it. I soon had so many mental Post-it notes that if I’d had a bulletin board to pin them on, it would have been completely full.

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Two things I didn’t fully understand in the early days of Julian’s hemophilia diagnosis were comprehensive care and inhibitors. But because I lived in Houston, Texas, home of one of the country’s top hemophilia treatment centers, I soon became familiar with the former. Comprehensive care involves a team of medical professionals who aim to treat my son’s bleeding disorder, prevent issues, and address all aspects of his health.

Julian was diagnosed with an inhibitor around his first birthday, after a tumultuous summer of dealing with a torn frenulum. An inhibitor is an antibody that targets factor concentrates, thus diminishing the effectiveness of factor replacement therapies. This complication affects up to 30% of those with severe hemophilia A.

My life changed dramatically after learning about Julian’s inhibitor. A port-a-cath was implanted quickly, and my husband and I soon learned how to infuse him with clotting factor at home. I remain grateful to my friend Rita, who invited us into her home and allowed us to watch her infuse her son through his port. It was frightening. Fortunately, my husband and I learned how to use the sterile technique procedure to infuse our son each day. In less than three years, Julian’s inhibitor was eradicated.

I would not have kept my sanity if I had focused on every term, complication, and what-if scenario after Julian’s diagnosis. My son is 25 now, and I still make mental notes, but there are fewer now.

Tackling issues as they arose is how I managed to learn the basics and find my way through the craziness of a rare disorder. One note at a time.

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Note: Hemophilia News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Hemophilia News Today or its parent company, Bionews Services, and are intended to spark discussion about issues pertaining to hemophilia.