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.

There are no chapters in the parenting books on how to soothe your child when he asks when he will be normal like the other kids and his hemophilia will go away. We cope with our challenges and move forward.

As a mother, I carry guilt that I have given him this broken genome that stunts his activity and eclipses his sheer joy for life and exploration. I feel guilt that I am why he cannot climb trees, play football, or wrestle his brother. Instead of only coping with these challenges, I have learned to embrace hope.

For years, I have coped. I have coped with the trauma, the drama, and the dynamic changes with John’s diagnosis and treatment. Finally, though. I do not just have to cope, I have hope. With the research at BioMarin Pharmaceutical in Novato, there is true hope that in my son’s lifetime, he will have a cure. I have hope that I can offer him a life like any other person, without being cautiously on the periphery.

BioMarin is developing a gene therapy that has the promise of delivering the missing gene to produce the missing protein factor viii to allow is blood to clot. In ONE DOSE. It may potentially eliminate the needs for prophylactic and on demand treatment for my son and my hemophilia community. This facility represents more than a potential cure for my son, it will bring our family so much peace.

After almost a decade of hearing “No,” “Yes” is on the horizon. The opening of the BioMarin facility has given me a new outlook. I think “Yes.” “Yes,” I can do this a little longer, because hope and a cure is ahead. This facility and its remarkable product are going to give my son and our community independence. As a parent, this building is more than a facility, it is going to allow my child to choose his path and not let hemophilia choose it for him. His opportunities and life choices will be made with his head and his heart rather than his diagnosis. We are so grateful for the innovation behind the doors of BioMarin.