By Kristin Shelton, as told to Stephanie Booth
Fifteen years ago, I had a lot of bleeding with the delivery of my first child. Then, when Danny was about 9 months old, he dealt with mouth bleeding for multiple days. It got to the point that I wouldn't leave the hospital. I was panicking. Something was wrong with my child. He was on the border of needing a blood transfusion.
After more testing, doctors discovered that Danny had a bleeding disorder. They gave me a genetic test as well and said, “You have hemophilia B, too.”
Honestly, it sounds weird, but I felt a small sense of relief. I had no family history of it, but there were a lot of times, especially through college, that I woke up with random bruises. And I had an extremely heavy menstrual cycle that was deemed “normal” because
other women in my family had it, too. But being diagnosed with hemophilia B also brought on a sense of sadness. I passed this on to my child unknowingly.
Managing a Hemophilia Family
I now have four children. Three have been diagnosed with hemophilia B. Danny, now 15, has severe hemophilia. My oldest daughter, 13, is classified as mild and also on a treatment regimen. My 11-year-old doesn’t have the bleeding disorder, but she's part of the family, so she’s clearly affected. Our youngest just turned 9 and also has mild hemophilia.
My treatment plan consists of tranexamic acid, which I use every month when I have my cycle. It helps cut down the chemical that breaks down clots in soft tissue. My youngest has the same lower-than-normal levels of factor IX, a clotting protein, as me and we see the same doctor, but she's classified as mild hemophilia and has an emergency dose of medication in case of bleeds. I do not.
The pushback that I’ve received is that if I'm an adult who’s made it this far in life, then I don't need treatment. But I look back across my life and see multiple issues growing up that did need treatment and that my daughters are starting to deal with.
My two oldest are both on a weekly prophylactic regimen, with emergency infusions as needed for injuries. Luckily, we haven’t needed any recently. My youngest has emergency doses, too, but hasn’t needed them yet. She’s closely monitored.
Infusions are a group activity. Everyone knows how to do them. I’ll say, “Hey, do you want to help pick out the Band-Aid for your brother?” or “Do you want to help clean their arm with an alcohol pad?”
Living with hemophilia B, there’s a lot of things that people don’t think about. We always have to think ahead. And not just about extra doctor appointments, but constantly making sure that we’re up to date on news in case there's a recall, whether for the factor protein or the saline that's in the infusion kit.
I have to make sure that my kids’ schools have medication on standby and that my kids have 504 plans to allow accommodations at school. That means three different meetings at three different schools to get counselors and nurses the information they need.
We also run into health insurance hurdles. Recently, I received our daughter's medication, but not my son’s. After approving it for four months, the insurance denied it. They said they needed verification that it was working. I was like, “My kid has a bleeding disorder. If the medication wasn't working, you’d see ER visits because of bleeds!” The situation actually got so bad that we got my husband's company's human resources department involved. The next day, we magically had the medication on our doorstep.
Planning for Emergencies
Wherever we live, we contact local emergency services to let them know our kids have bleeding disorders and about their medications. That way, if someone breaks their arm on the playground and an ambulance is called, they know that name is tied to a kid with a bleeding disorder.
It's a habit now when we travel to think, “How many doses of factor replacement therapy do we need?” We also make sure that we have two emergency doses for everyone in case something goes awry. A cooler is always with us since the medication can’t get above a certain temperature. If we're traveling somewhere new, like for my daughter’s volleyball tournaments, we check to see where the closest treatment center is.
We have a medical alert symbol sticker on our vehicle so if we’re in a car wreck, EMS knows there's something medical to pay attention to. Our children all have medical alert jewelry. Even the bag for their medication has a medical alert symbol.
Finding Community
Shortly after our son was diagnosed, while trying to learn everything about this bleeding disorder, we went to a Coalition for Hemophilia B event. The presentations were eye-opening. They weren't like, “This is a death sentence,” but “Hey, here’s all this innovation and technology that can help.”
The coalition has provided a lot of opportunities for us over the years. My kids don't have to explain their bleeding disorder to the other kids they’ve become friends with. They can openly discuss how much it sucks to do an infusion or if their pain is bad. My son has gotten to know some of the older guys in the community, and they offer him wisdom that I can't, like doing jumping jacks before an infusion so your vein is less likely to move away from the needle, or roll.
When I run into hiccups, I can share them with others. After our insurance issue, I reached out and said, “Hey, I want to put this on your radar in case other people are dealing with it.” When we have questions and needs, they do so much for us, too.
Advice for Others
One of the best pieces of advice I’ve gotten is to purchase a cheap calendar and track everything. You spend a couple of minutes every week writing down things like if you fell and had a bruise, and how many days it took to get better. How many days are your periods? How heavy are they? How do you feel after an infusion? Does the pain go away, or does it come back?
It’s really important to notate all this stuff. When you meet with your hematologist yearly, you can take that calendar and say, “This is everything I've dealt with in a year.” It’s also easier to push for prophylactic treatment when you have documented evidence.
Advocacy is a huge part of living with hemophilia B. I know it’s hard. You get busy with kids and life in general. But you have to advocate for yourself — at the doctor’s office, at your kids’ schools, at your job if you need disability. Advocacy and sticking together as a community are critical to making it out the other side.