Few have a stronger claim to the phrase “rarest of the rare” than those with a rare bleeding disorder.
Bleeding disorders of any kind are uncommon to start with. The most common one, von Willebrand disease, is estimated to affect close to 1 in 100 people in the US. When it comes to rare bleeding disorders (RBDs), the numbers are quite different. “The prevalence goes anywhere from 1 in 500,000 to 1 in 1–3 million in the general population,” says Roshni Kulkarni, MD, director of the Michigan State University Center for Bleeding and Clotting Disorders in East Lansing. Together, factor VIII (F8) and IX (F9) deficiencies (hemophilia A and B, respectively), von Willebrand disease and platelet function disorders account for 95% to 97% of all congenital or inherited bleeding disorders. The remaining 3% to 5% is made up of people with rare bleeding disorders such as factor VII (F7), factor X (F10), factor XI (F11), factor XIII (F13), factor I (F1) or fibrinogen, and other factor deficiencies.
Having a rarer version of an already rare condition comes with many challenges. Among them:
Delayed diagnosis or misdiagnosis
Some people with RBDs have relatively minor day-to-day symptoms that are overlooked until a major bleed occurs, such as during or after surgery. “Physicians have to be aware,” Kulkarni says. “If a person is bleeding, think about a bleeding disorder.” It can take years for some people to receive a correct diagnosis. Many know something is not right, but they may see several doctors before they’re finally able to get an official diagnosis of a bleeding disorder.
Limited educational materials
Information written for the general population can be hard to come by. “So often with the rare bleeding disorders, it seems as if the information is surface-scratch as opposed to deep-dive,” says Jim Munn, RN-BC, MS, program and nurse coordinator at the Hemophilia and Coagulation Disorders Program at University of Michigan Health System in Ann Arbor.
In recent years, some RBD patients have benefited from new, life-changing factor concentrates. Others are still waiting for their breakthrough. “We still don’t have a good product for the XIs,” Munn says. “There is a concentrate that’s available in Europe, but it’s not available in the States.”
Providers who don’t understand the condition
Physicians outside of a hemophilia treatment center (HTC) may never have had a patient with a rare bleeding disorder. “If you’re a patient with a rare bleeding disorder, in all likelihood you know more about the bleeding disorder than the physician who is taking care of you,” Kulkarni says. “You have to arm yourself with knowledge.”
Not feeling part of the broader bleeding disorders community
Some with RBDs feel like they are in the shadow of the more common conditions, especially at conferences and events. “The examples that are given in those seminars are very often geared to the more common bleeding disorders,” Munn says.
Often those with RBDs exist as “lonely islands”—they may be the only person in their state, or even region, with their disorder.
Being treated at an HTC can help address some of these challenges—but not all. The three people profiled here, all of whom are affected or have family members affected by rare bleeding disorders, are finding their own solutions, and striving to improve the lives of others like them.
“We are family”
Carly Magee, of Waterloo, Illinois, has two children with severe FX deficiency—Gabriel, 21, and Ariel, 19. For years, she searched for other FX families. She longed to meet with people in the same situation. More than 15 years went by, she says, and “my kids had never met another FX ever in their lives.”
That changed in 2016, when Magee and her children met a man from Kathmandu, Nepal, with FX deficiency at the World Federation of Hemophilia World Congress in Orlando, Florida. “Just because he was going to be there, my family and I went,” she says.
Then, the National Hemophilia Foundation (NHF) hosted a pre-conference just for families affected by FX deficiency at its 2017 Annual Meeting in Chicago. “We were just hugging and crying,” Magee says of the Chicago gathering. She remembers meeting one man who was tall with a dark complexion. In contrast, Magee says, she is short and Caucasian. “You couldn’t get any two different-looking people together,” she says. “He just looked at me, and I looked at him, and he said, ‘We are family.’”
After the Chicago meeting, Magee learned about a child with FX deficiency who lived close to her family. After connecting with the local family, she organized a “Power of X” team for the Gateway Hemophilia Association’s 2018 Unite for Bleeding Disorders Walk in St. Louis in May, and the Magees and the other family participated together. Magee also started a Facebook group for people with FX, which serves about 20 people with the disorder, plus family members who are welcome to join.
Magee has witnessed positive changes since her kids were born. When Gabriel was a baby, she read medical journal articles on microfiche in the basement research library of their hospital. Now, such information is more accessible.
Treatments have improved as well. For years, Magee’s children used a FIX complex product for prophylaxis. She felt fortunate to have a treatment option, but there were drawbacks. Since then, a treatment for FX became available.
Recently, Magee has become more active in the bleeding disorders community as a speaker and a member of NHF’s Bleeding Disorders Conference planning committee, where she helped plan the first rare bleeding disorders track, which debuted at the 2018 conference in Orlando. Part of her motivation, she says, is to help families with RBDs feel more connected within the larger bleeding disorders community. “There is so much information and so much emotional support out there for them,” she says.
“I want to connect”
A medical tragedy led to the diagnosis of FXI deficiency in members of Sandra Fox’s family. Fox, 64, a psychotherapist in Pittsburgh, had experienced two bleeding episodes in her life: A major incident after a traumatic brain injury in 1995 caused a brain hemorrhage, and a minor one after a breast biopsy resulted in significant bruising. In neither case was a bleeding disorder suspected, she says.
In March 2018, Fox’s 33-year-old niece, Julia, was diagnosed with a brain tumor that turned out to be stage 4 glioblastoma. After surgery to biopsy the tumor, Julia experienced uncontrolled bleeding in her brain. Julia was already on life support when doctors determined she had FXI deficiency. She died soon after.
The diagnosis was a shock to the family. “I’d never heard of FXI deficiency before,” Fox says. “I was totally blind-sided by it.” In the midst of her grief, Fox pursued immediate testing for herself, as she was scheduled for a lumpectomy just weeks later. Within days of Julia’s death, Fox learned that she too has FXI deficiency, also referred to as hemophilia C.
Since her diagnosis, Fox has immersed herself in researching the condition. “I have a lot of interest in finding this information now, as a matter of survival,” she says.
One of the things she discovered is that families of Ashkenazi Jewish heritage, like hers, have a higher risk of FXI deficiency. Fox hopes to raise awareness in the Jewish community about FXI deficiency. “I don’t want to scare people,” she says. “I want them to know in advance, so they can get the proper treatment.” Recently she learned about a nonprofit called JScreen, which screens young Jewish adults for genetic diseases including FXI deficiency. Julia had genetic testing through another company before she was hospitalized, but it didn’t screen for FXI deficiency.
Fox has begun to attend events with her local chapter, despite being the only FXI member, as far as she knows. “I want to connect,” she says. “I’m going to do whatever I can to raise awareness.”
At NHF’s 2018 Bleeding Disorders Conference in Orlando, as part of the inaugural rare bleeding disorders conference track, Fox co-presented a session with Roshni Kulkarni, MD, on head bleeds in hemophilia and rare factor deficiencies. She told her story, and Julia’s, to an audience that was visibly moved. Afterward, she met three other attendees with FXI deficiency. “I was gratified to meet others with it, but we only had a few moments to connect,” Fox says. “There was no other venue for us to get together. Maybe that can happen in the future.”
“We can’t be complacent”
Seth was more prepared than many to face the challenges of living with a bleeding disorder when he was diagnosed with FXIII deficiency at age 19. Interested in biology (he had thought about medical school for a time), he understood the medical literature about his condition. He made use of NHF’s HANDI resource center to educate himself further. “You can’t be complacent,” he says. “You need to be always reading, knowing more.”
Now in his 50s, Seth lives on the West Coast. He’s experienced feeling left out of the greater bleeding disorders community. He says he attended a few local chapter events, but he didn’t quite fit in. “I was kind of alone there,” he says. “They had their own FVIII or FIX discussions.” After attending two or three events, he stopped going. “After we say ‘hi’ and ‘hello’ and ‘how are you doing,’ there’s nothing much you can talk in common.”
It was in the pages of HemAware that Seth learned of the first FXIII pre-conference that took place at the 2015 Annual Meeting in Dallas. He made plans to attend the following year.
Before reading about the 2015 pre-conference, Seth says he didn’t have much desire to attend national conferences. But in the last three or four years, he’s noticed a marked difference in FXIII coverage and has attended the past three NHF annual conferences.
By attending national events, Seth has met others with the same disorder and made several friends. Like Magee, he joined NHF’s Bleeding Disorders Conference planning committee. Locally, however, it can still be a challenge. “I was the only person I knew of with FXIII in the state for a long, long time,” Seth says. Recently, he learned of two others in his area with FXIII and hopes to connect with them.
What NHF Is Doing for You
The National Hemophilia Foundation (NHF) isn’t only focused on hemophilia. NHF’s mission is to serve all families affected by all bleeding disorders, including rare bleeding disorders.
“NHF has taken steps to provide educational support tailored to the ultra-rare bleeding disorders community,” says Sarah Waite-Ardini, MA, manager of education at NHF. NHF conducted a needs assessment to learn about the unique educational needs of people with rare bleeding disorders. “We went directly to members of the bleeding disorders community living with rare factor deficiencies and platelet disorders and asked them to identify their needs from an education perspective—essentially, how NHF can better support them,” Waite-Ardini explains.
In recent years, NHF’s annual Bleeding Disorders Conference added a pre-conference for FXIII families, called “Strength in Numbers,” and one for FX families, called “The Power of Ten.” The pre-conferences for families affected by FX and FXIII deficiency were so successful that in 2018, NHF added a rare bleeding disorders track to the main conference program as well. “For some, the NHF conference is where they meet someone else for the very first time in their life with the same bleeding disorder,” Waite-Ardini says.
Most importantly, NHF encourages members of the rare community to get involved. For the 2018 Bleeding Disorders Conference, community members planned sessions with NHF staff for the FX and FXIII pre-conferences, as well as for the rare bleeding disorders track.
Learn more: To find out what’s planned for people living with rare bleeding disorders during NHF’s 2019 Bleeding Disorders Conference from October 3–5 in Anaheim, California, email: [email protected].