Editor’s note: BioMarin Pharmaceutical recently opened a facility in Novato where a treatment for hemophilia will be manufactured for phase 3 clinical trials.
My name is Christine Orr. I am the mother to two boys, ages 11 and 7. My youngest, John, is a Type A Severe Hemophiliac, a genetic disorder caused by missing or defective factor VIII, a clotting protein. My oldest, Jimmy, is not.
Before John’s diagnosis, I was unaware that I am a carrier for this genetic abnormality. With no knowledge of the disease, or the risk of my offspring being affected, the diagnosis was unexpected.
The hemophilia community is made up of incredibly resilient people. Most of us are unaware that the genetic mutation exists in our family, and others, hold their breath praying that genetic roulette spares their son. (It primarily affects males.) We had no clue that I was a carrier. We had our baby in the fancy little hospital that gives you adorable bathrobes and champagne after delivery. Neonatal Intensive Care Unit? Nahhh, not us.
You see, hemophilia is rare. It might be a few questions on the MCAT for physicians, they read about it, get it right, but really never see it in practice. And not just because it is uncommon, most patients died in the 80’s and 90’s due to HIV tainted blood product. Our pediatrician had never seen it.
The signs were all there when John was born, and hemophilia was GLARING at us in the face. Umbilical cord dripping blood, heel sticks dripping blood, circumcision leaking LOTS of blood. By the time we got to a NICU at another hospital, we were terrified. We were shaky, weepy, and broken, staring at our baby in an incubator, bleeding from so many places. The staff at Stanford knows hemophilia. As soon as they began treatment, he began to heal. I have never in my life been so thrilled to see a scab.
With that success, came reality. This is forever.
I have spent the past seven years giving my son infusions every other day either intravenously or through a port in his chest. This prevents his spontaneous internal bleeding and allows him to live a fairly normal lifestyle, with exceptions. Every day, I am either setting up or distributing an infusion. And, every day, I am challenged to smile and accept our normal.
We tiptoe into parenthood reading books about how to swaddle our babies, debating late into the night on whether we should breast-feed or use formula, we lament on cloth vs. disposable diapers.
We do not however, anticipate whether we should opt for a 25-gauge peripheral needle or a 21-gauge port needle to treat our children daily.
We do not anticipate tourniquets for toddlers or having to get nurses to steal needles for you from the clinic, because your insurance refuses to pay the extra 32 cents to keep your child’s needle safe.
We do not anticipate sleepless fearful nights in the emergency room unsure if he has a good old fashioned flu fever or his port could be septic and poisoning his body.
Treating John is the part that has taken the most courage. At nine months old, John had begun repeatedly spontaneously bleeding into his joints, leaving significant damage. We had a port-a-cath sewn surgically into his chest wall, permitting us to treat him every other day. No mother is supposed to stand over her baby strapped onto a papoose board, while he stares at you unaware of your fear, and place a needle into his chest. But, we do. Again, we cope with our challenges, and move forward.