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Steven’s Story - Living with Hemophilia B

Steven Sclafani is my son; he is also a boy with severe Factor IX deficiency (Hemophilia B), also known as Christmas disease. Hemophilia is a rare genetic bleeding disorder in which affected individuals have insufficient levels of a blood protein called factor IX, which helps in the blood clotting process. Therefore, when you have low levels of this clotting protein you can bleed spontaneously or with trauma. Severe hemophiliacs can easily bruise and are susceptible to prolonged bleeding episodes. Bleeds can occur into places such as a muscle, joint or organ. Bleeds can be painful and debilitating as well as life threatening. Steven’s Hemophilia diagnosis was made 5 days after birth, his 1st muscle bleed at 22 days of age. Our family was completely devastated, wondering what kind of existence will our child have, how could he live a normal life with hemophilia? My wife and I knew very little about this rare disease and what we thought we knew wasn’t very encouraging.

After Steven’s diagnosis, a North Shore Hospital Hematologist directed us to the federally designated Hemophilia Treatment Center (HTC, of which there are about 125 in the United States) a combined pediatric and adult program at the Cohen Children’s Medical Center (CCMC) and the Long Island Jewish Hospital. That was where our hemophilia education began and continues today. We were met by Dr. Richard Lipton and HTC nurses Peggy & Christine. They sat with us for what seemed like hours explaining both the disease and treatment. Steven was expected to live a normal life. We were introduced to the symptoms of the disorder, what to expect and the treatments that were available for use during a bleeding episode. He was recommended a recombinant clotting factor (made in the laboratory and not derived from human plasma) to be infused intravenously on an ‘as needed’ basis.

Once Steven was old enough for preschool, our HTC discussed with us the benefits of a prophylaxis regimen where Steven would receive his factor twice a week to protect his joints and give us peace of mind while he was at school. The HTC nurses patiently taught me to infuse my son. While this was a very stressful hurdle for me; Steven always took it in stride. At 4 ½, Steven began to let me infuse him at home. To Steven, this was all he knew, this was his life. At a very early age, Steven reconciled that his hemophilia was apart of his life, but didn’t define him. Looking back, my family has the HTC to thank for setting us on this positive minded path. Our LIJ HTC family never spoke at or down to us. They always took the time to educate my wife and me, providing encouragement and teaching us to be Steven’s biggest advocate. Dr. Suchitra Acharya of CCMC who directs care for children at the HTC, now Steven’s pediatric hematologist, takes wonderful care of him and always provides encouragement and direction when Steven experiences any injury or bleed. Our HTC treats the disease as a whole providing genetic counseling, dental and physical therapy assessments; there’s even a social worker to aid new families. Their goal is to afford the hemophilia patient and their family the opportunity to live as normal a life as possible. The combination of children and adults in the comprehensive, multidisciplinary HTC allows for a seamless transition from pediatric to adult care.

Today, Steven is a well adjusted 8 year old boy that happens to have Hemophilia B. Yes, he still has the occasional muscle or joint bleed, but if you met Steven, you wouldn’t know there is anything wrong unless you read his Medic Alert dog tag. Steven is comfortable discussing his hemophilia with anyone and continues to learn about his body. He even helps me during his planned twice weekly infusions of clotting factor. Hopefully he will soon learn how to self infuse which will make him more independent.

Steven is very athletic and plays organized Baseball, Basketball and even Flag Football. He has even begun to play the guitar. We teach him to understand his hemophilia as well as his body and how to set limitations when necessary. He continues to learn how to use good judgment in dealing with his hemophilia as he becomes more independent. Steven is an energetic, positive child who makes friends freely and without hesitation. He is probably a little rougher than his mom and I would like him to be at times, but that is a good thing – that means Steven is well adjusted to his situation. Steven lives life today at full speed, partially because of his medicine, but also because our HTC family put us on the right path from the very beginning . . . not instilling fear but rather empowerment.

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