What led you to become involved with the National Hemophilia Foundation?

Alex Borstein: When my older brother began infusing himself I became very interested in hemophilia. I wanted to know what it was. I wanted to know what it felt like. I was so curious and in some ways very jealous of the attention it garnered him as a child.

As we both grew, I saw him start to deal with the complications, both physical and emotional, of having a bleeding disorder. I learned that I was a symptomatic carrier. As a young adult, I watched him get involved with NHF and the summer camps. I saw that there was a real community within this world.

But it wasn’t until I found myself at the crossroads of parenthood that I became directly involved with NHF myself. As soon as I learned that I was pregnant, I reached out to the foundation to get some answers about what it would be like to raise a child with a bleeding disorder. I wanted to talk to other mothers who were going through that experience at that time. And once I learned that I was carrying a boy, I became even more voracious in my consumption of people’s experiences. The foundation was such a great resource, and opened my eyes to a world that I knew was there, but didn’t know how to access.

Your brother’s diagnosis exposed you to hemophilia at an early age. How did your family prepare and manage his condition?

It wasn’t until my brother was a week old that my parents found out he was a hemophiliac. My uncle is also a hemophiliac, but he was born in Budapest, Hungary, at a time when diagnosing bleeding disorders wasn’t as clear-cut as it is now. The doctors only knew that he had pain and they only offered elevation and ice as a treatment.

“I was very jealous that all eyes were always on my brother and his care. I compensated at times by getting very loud and very ridiculous.”

So, when my brother had his first bleeding episode as a baby, it was a mystery. Once diagnosed, my parents had to learn as they went along. They were in a position of making decisions based on new information that was coming at them fast and furious. This was before hemophilia treatment centers were prevalent, so injuries meant constant trips to the emergency room. It was very stressful and at times traumatic for everyone. But given those circumstances, my parents did the very best they could. They were vigilant about his care and learned to be powerful advocates for him and themselves.

How did you use humor to help your family cope with this delicate condition?

With constant trips to the ER and a steady stream of stress and trauma, the role I took on at an early age was that of comic relief. It wasn’t a conscious decision, it just kind of happened. I think in part because I wanted to calm the tension, but also, I wanted to pull some attention my way. Children crave attention, good or bad, and I was very jealous that all eyes were always on my brother and his care. I compensated at times by getting very loud and very ridiculous.

How did you find out you were a carrier of the hemophilia gene?

In my mind, there was never a thought that I might not be a carrier. I always just assumed I was and once I turned 12 or 13 I got a pretty big clue from menstrual periods that resembled shark week. My mother had me tested around that time and we learned that my clotting factor activity level was at 27 percent (50 to 150 percent being normal.)

Once you knew, what precautions did you take as you prepared to start a family?

Knowing you are a carrier is a huge benefit in planning for life with a child with a bleeding disorder. I was lucky to have the knowledge, to be armed with valuable information. I decided to have what was called chronic villus sampling. This was a test that was used to detect various birth defects and genetic disorders, such as hemophilia. The test is conducted at approximately 11 weeks of pregnancy where a small sample of cells is taken from the placenta. This amazing technology allowed me the ability to know very early on what my child’s diagnosis was.

How do you and your family manage the condition now?

My first-born was a boy. The CVS test came back negative and we felt like we had dodged a bullet. There is a 50 percent chance that a carrier will have a hemophiliac boy and we were lucky to fall on the other side of that ratio.

“Every mother’s voice I encountered through the NHF chat rooms was in my head. Every mother was with me in that ER and that sense of community is what helped me through that experience.”

Well, four years later I was pregnant with a girl and we did the same testing to see if she was a carrier. I had a suspicion she would be a carrier, but I also had great hopes that in her lifetime a cure might be discovered for this disorder, so I wasn’t too worried about her future or her potential children’s futures. The test came back positive and we felt lucky, once again, to be armed with information.

As a precaution, both of my children were delivered via caesarean section. My doctor was very confident in the CVS results, but did not want to take any chances during delivery. There is always a small chance during delivery through the birth canal that babies with bleeding disorders can suffer injuries. We were prepared for delivery, but what we weren’t prepared for was my daughter’s diagnosis.

Today, many doctors consider anyone with a clotting factor level well below normal to actually express the disease. My daughter tested at 28 percent factor activity level and is considered a mild hemophiliac. At age 1, she received her first treatment after a head injury and I can tell you that every mother’s voice I encountered through the NHF chat rooms was in my head. Every mother was with me in that ER and that sense of community is what helped me through that experience.

What’s your advice to parents who find out their child has been diagnosed with hemophilia?

Get informed. Get involved with other parents in your situation. Become an expert in your child’s care. Become an expert in the world of health care. Understand your health insurance. Know that your employment equals health insurance and make choices about where to work based on what type of coverage is offered. Become an advocate for yourself and your children.

Tell us about your role as an advocate.                 

I became a spokesperson for NHF in hopes of helping to raise awareness about bleeding disorders. It is a very insular world and we hope to educate people both inside and outside of the community. The Red Tie Challenge is a great way to visually pull people in to the world of bleeding disorders and tell our stories. We ask that anyone take the challenge who has been affected by a bleeding disorder in any way. If you know someone, are related to someone, or care for someone with a bleeding disorder, then we welcome you to take the challenge and tie one on.

What is the biggest obstacle facing the hemophilia community?

In the grand scheme of diseases and disorders, hemophilia is still considered quite rare. And when you have a smaller population of those affected by a disease, it can be more difficult to get funding for research towards a cure. It can also be more challenging to get the word out, as fewer people know someone personally affected by the disease. Which again, is why the Red Tie Challenge is so important. To make our voices heard. To make our mission clear.

And most challenging to the health and welfare of hemophiliacs is the fact that we are now faced with a health care crisis in the United States with a president who does not care about people with pre-existing conditions. Donald Trump and his hope to scrap the Affordable Care Act will leave so many within the community without insurance. Living with hemophilia without access to health insurance can be a death sentence. Because the disease is so rare, the treatment (replacement clotting factor) ranks as one of the most expensive and common medical conditions.