Wonderful, happy, active, truck-loving three-year-old with a bleeding disorder.
Wonderful, happy, active, truck-loving three-year-old with a bleeding disorder.
Colin, 3, Massachusetts
I have a precise memory of picking up the phone and hearing my wife share the diagnosis: “Severe Hemophilia A; Factor VIII level <1%.” I didn’t know what it meant but I knew that it wasn’t good.
Let me back up the story. My son, Colin, always bruised easily. He would have black and blue marks under his arms from where we picked him up. By a year old, he had deep purple welts all over his body. Neither his pediatrician nor the emergency department doctors knew why. But after numerous tests, we finally came to find that our 16-month-old had a rare genetic disease. With no family history of hemophilia, we were caught completely by surprise.
In the days and weeks that followed, I learned that Colin is missing a protein in his blood so he doesn’t clot normally. He doesn’t bleed faster than other people, but without his medication it is hard to get him to stop bleeding. We don’t really worry about superficial cuts but we worry about internal bleeding: especially to the joints—which can lead to long term damage and disability. We are especially worried about him hitting his head; those accidents are terrifying.
The first year was difficult. We had 10 emergency department visits, 2 inpatient admissions, 1 surgery, and more doctors’ visits than we cared to count.
The treatment for hemophilia is a very expensive intravenous infusion medication. We start every morning by putting a needle into Colin’s chest to give him his medication. Colin’s treatment cost $1.6 million in the 12 months following his diagnosis. Our family is so grateful that we have excellent insurance and community support. (We are also acutely aware that many families impacted by rare diseases do not have either, and as a community we have a long way to go to achieve widespread accessibility and affordability.)
Two years in we are finally settling into our new normal. We have found a medication that works for Colin and things are much better. I am proud to say that he is a wonderful, happy, active, truck-loving three-year-old who loves going to preschool and climbing on the playground. His big sister sometimes plays with him and sometimes ignores him, which is to say, she treats him exactly as we would expect regardless of hemophilia. That said, we know that at any moment our boy can go from having a blast on the playground to a trip to the hospital.
Nonetheless, we are optimistic about the future of medical innovation to treat Colin and all people with bleeding disorders. But regardless of what medicines look like in the future, we are confident that our children will both have opportunities to be themselves and pursue their chosen paths.