Read firsthand patient and parent stories from members of the hemophilia B community. Then read their current stories to find out what they are up to now.
“I try to foster healthy self-esteem by trying new things with the confidence of a survivor and the wisdom of a mature bleeder. Chronic illness is a blessing when its management is just part of life.”
“I strongly encourage other caregivers to get involved. This gives you the tools and strength to better advocate for your care. It also provides that all-important support system.”
Becky VanSant is a mother of three daughters ages 7, 10, and 14. Elizabeth, the 14-year-old, has severe hemophilia B and is the first person with hemophilia B in the family. Becky describes this as, “Elizabeth’s translocation is on the long arm of her X chromosome and her 14th chromosome; her X has a piece of her 14th, and her 14th has an equal size piece of her X.” Becky and her husband, Jim, have been very proactive in seeking medical help that will be important to others as well in the future.
When Elizabeth was 3 months of age, she had a bruise on her chest. When Becky took her to the physician to have it checked, he did a finger-prick blood test. The bleeding from this test did not stop. In further analysis, the physician noted that Elizabeth’s FIX level was very low. Not only was the physician surprised at this, but Becky and her husband found this very difficult to believe because Elizabeth did not fit the profile. There was no information about girls being diagnosed with hemophilia B. Becky and Jim not only had difficulty accepting this diagnosis, but also found it difficult to explain to others that she did indeed have hemophilia B, including a nurse they met before Elizabeth’s surgery who was in the surgery waiting area. The nurse argued for some time with Becky that this was impossible. She was a tough sell and hard to convince that Elizabeth had hemophilia. This reaction was because most of the literature and teaching at the time centered around boys, not girls with hemophilia B.
“When we began to go to an HTC, we found that the education about the genetics and the cause of Elizabeth’s hemophilia helped us, and we started to get involved. The support from the HTC was more valuable than anything in our acceptance of the diagnosis. Before that, we felt like we were really alone because everyone and everything pertained to boys,” Becky stated. “It took time for people to focus on the diagnosis and not on the gender. In time we became part of the hemophilia B community, and everyone accepted Elizabeth as a person, just like the others who had hemophilia B.
Becky feels that over the past 14 years, the educational information for women with bleeding disorders has increased quite a bit. She has become very proactive in her efforts to build awareness with as many women as she meets. She tells them, “If you have bleeding issues, get your levels checked because there might be a reason for this.” “I do see more women speaking up now and things are changing in the hemophilia B community,” Becky says.
As a teacher, she has had an impact on some of her previous students who are now in college and call her with statements professors have made such as, “Women can’t have hemophilia.” Becky believes that little by little awareness will continue to build that hemophilia B is not necessarily gender-specific. “Instead of focusing on gender, if your factor levels are low, you are a hemophiliac. If you are a symptomatic carrier, you are a mild or moderate hemophiliac.”
Becky says, “When we first joined the hemophilia B community, everyone was shocked. Now it is okay. We’re finally in the place where women are accepted as a part of the community, and we are no longer alone.”
Becky, whose daughter Elizabeth, 18, has severe hemophilia, found herself in the role of advocate for all women who are symptomatic carriers of hemophilia B. “I think women with bleeding disorders have come to the forefront more, and awareness is continuing to grow.”
She talks specifically about the struggle that women who are symptomatic carriers go through when it comes to diagnosis and treatment. “The more women I talk to who are symptomatic carriers, the more I hear that they just want to be labeled as having hemophilia,” she says. “If they were male and they had their levels drawn and they were at 17%, they would be labeled as having hemophilia, but since they’re a woman, they’re just being labeled as a symptomatic carrier, and they don’t get access to factor like they should. It’s still a struggle for a lot of women out there.”
Because of this, she describes Elizabeth’s diagnosis of severe hemophilia as fortunate. “So many of these women who are mild to moderate don’t get the treatment, and they really suffer. So for Elizabeth to be able to have factor in her refrigerator at her disposal anytime she needs it, hemophilia really isn’t as big of an obstacle as it is for some of these other women.”
Becky uses her career as a teacher to help others within the hemophilia community. She continues to stay involved in events to help educate others. “I’ve really focused on education of others. When we go to some of the meetings, I love talking to the kids and the parents, especially the parents of the younger kids. Their future is unsure, and they’re not quite sure what they’re up against and to just help relieve some of their fears, that’s the role I really like, because I so appreciated it when I was in their shoes. To see a normal teenager and go ‘Okay, he’s fine, he’s normal, he’s playing around just like everyone else,’ that was really reassuring to me when she was a toddler.”
Dan B, a 55-year-old with severe hemophilia B from Texas, discussed the possibility of surgery with his doctor to help correct the debilitating pain in his elbow and ankles. Five joint replacements later, Dan is now happy about having had the surgeries. Because the decision to have surgery is a personal one, he would encourage you to be your own advocate when it comes to your medical needs.
Despite having endured five joint replacements, cancer treatment, and most recently, a cartilage tear in his shoulder, Dan B continues to maintain a positive outlook on life and reminds himself every day how lucky he truly is to be alive.
Dan B feels that part of the reason he has been able to reach the “ripe old age of 55” is due in part to caring and generous individuals within the hemophilia community. His advice is to never forget those who helped you get where you are today. Dan says, “You owe it to all the people who helped you survive to make the most of what you have and to give something back.” Volunteering in any arena can touch the lives of others and gives you a sense of pride and accomplishment. It is also important to realize that once your generation is gone, so are many lifetime collections of wisdom and experience. Some of these may never be known by the younger generation growing up in such a medically advanced world. Tell your story and be remembered.
Dan, now 60, has nothing but a positive attitude about the effect that hemophilia has had on his life, even though he just underwent his sixth joint replacement surgery. “There are lots of things I wouldn’t have done otherwise,” he says, “such as racing cars, flying airplanes, and cross-country bike riding.”
His health also took a turn for the better when he was spontaneously cleared of hepatitis C, which he contracted early in his life due to treatment for hemophilia. This occurrence is extremely rare, and he found it hard to believe at first. “It had never been treated, and the reason we even found out it was cleared was that I was working to get it treated. They did a test to find out what kind it was, and they couldn’t find it. It was just gone. Then they checked again and got the same result.”
He considers himself very lucky for many reasons, one being that he has been a strong advocate for his care throughout his entire life. “I don’t know how to stress that enough,” he says, “being your own advocate is the only way to stay alive. Know your options and ‘doctor shop’ to find someone that meets your needs.”
Being a part of the Pfizer B2B Advisory Board has meant a lot to him. “The idea that my opinions matter means a great deal to me. I can see my influence in the publications.” Dan also gives back to the community with his participation in hemophilia camp, leadership, and working with local hemophilia chapters. “Being involved, it’s a much bigger deal than I thought it was. You as an individual can contribute to the community, educating younger people, educating your peers, and you can learn from most of those groups too.”
Jeff K, a 46-year-old with moderate hemophilia B from Minnesota, stays active and youthful by taking advantage of the great outdoors. Jeff loves spending time boating and coaching soccer teams.
As a result of growing up before much was known about hemophilia treatment, many older men did not have the opportunity to maintain a preventive treatment regimen or even treat bleeds as quickly as was needed. When Jeff was growing up, treating preventively was not an option. “My late teens and early 20s were during the dark years when blood supplies were not always safe.” His treatment protocol was “just enough to get by.” Today, Jeff believes that being proactive and treating preventively is a smart idea. Before certain events, such as a trip to Disney World with his family, he infuses factor because he knows he will be doing a lot of walking and carrying luggage. He also infuses factor before doing outdoor chores like raking leaves.
Jeff K said that his ankle fusion and hip replacement (at 32 and 41 years old, respectively) “changed his life.” Although he did not experience much resistance from his doctors, they did disagree on the age at which he should have the surgeries done. Jeff, however, felt that it was the right time for him and worked with his doctors to fulfill his wishes.
Jeff K maintains his perspective by realizing that there is always someone out there worse off.
A friend recently said to Jeff K, “Every time I look at you on Facebook, you’re somewhere different.”
“I’m as active as I’ve ever been,” the now 51-year-old says. “I had my best summer of golf and lowered my handicap two strokes.” Jeff and his wife Char (short for Charlene) and their two sons—Alec, 18, and Austin, 15—stay very active, whether it’s boating at the lake or traveling to the boys’ swim meets.
Jeff has had several major orthopedic surgeries to date. He had his ankle fused at age 32 and a total hip replacement at age 41. Both were conditions resulting from less-rigorous treatment of his hemophilia B in his youth. Today, he is very proactive with his factor treatment, which has helped him keep up his active lifestyle. “There is no reason to live in pain or to keep you from doing what you want. Don’t let your hemophilia keep you from fixing your joints. I would do both surgeries again tomorrow to get my life back with no pain! Living on painkillers is no way to go through life.”
According to Jeff, having a positive attitude is the key. “Hemophilia does not run my life, I do. I know my limitations and I live my life the way I want. I only think of my hemophilia when I do get a bleed.” In Jeff’s mind it’s just like having allergies, you treat as-needed and go on with life. “It can be real easy to feel sorry for oneself, but that doesn’t do anyone any good. Life with hemophilia is not easy, but it was the hand I was dealt, and you have to play it the best you can. As a funeral director, I have seen many people whose lives are worse than mine.”
Jennifer M and her husband, Matthew, are the parents of four children: Kaitlyn, 14; Megan, 11; Emily, 5; and Nicholas 3. Megan is a special needs child with Williams syndrome and Nicholas has hemophilia B. There was no previous confirmed diagnosis of hemophilia in the family, although Jennifer's brother died from an intracranial hemorrhage weeks after birth. A diagnosis of hemophilia was not expected when Nicholas was born until a heel-stick after birth produced oozing, a factor level of less than 1%, and a confirmative diagnosis of severe hemophilia B.
Nicholas was then treated with factor, and he remained in the hospital for 1 month after birth. His factor level improved, but he developed complications and will never be able to have a catheter. When he needs infusions now, his family takes him to the ER. Because of the complication, Nicholas is under the care of a cardiologist, as well as a hematologist.
Jennifer M and her family are extremely pleased with all of the resources available to them through the hemophilia B community. The family attends numerous events and conferences every year, and their older daughter, Kaitlyn, has become involved with other siblings of young children with hemophilia B. She recently attended “Advocacy Days” in Maryland with her parents, where she spoke with a local congressman about resources for children with hemophilia.
When we spoke with Jennifer, we asked her how she managed having a toddler with hemophilia and a young special needs child. Jennifer replied, "We haven't stopped for hemophilia. We use all of the resources in the hemophilia B community, and as a family, we have made many friends." She feels very strongly that every family with a child with hemophilia should get involved with an HTC as soon as possible and take advantage of the education and socialization available to the entire family.
When asked about concerns for the future, Jennifer said, "We worry about treatment for Nicholas as he gets older and the fact that he cannot have a port for preventative treatment. Right now he is on-demand only. We take lots of precautions in our home, and outside of the home as much as we can. For now, we focus on exercises for Nicholas.
Nicholas will begin preschool in the fall, and Jennifer plans to hold an educational session with the teachers and staff at the school. The family also plans to attend a camp with Nicholas in the near future.
Even though Jennifer’s youngest child, Nicholas, now 8, has severe hemophilia B, that hasn’t held him back. In fact, he’s busier than ever with sports and activities, all of which were discussed with his hemophilia treatment team, who helped determine the activity level and the dosing regimen that was right for Nicholas. In the spring you’ll find him outside playing baseball, in the summer it’s swimming, come fall he can be found playing soccer, and during the winter he’s on the basketball court. Outside of sports, he has also been selected as one of a handful of second graders to be part of a special STEM program, an educational program that focuses on science, technology, engineering, and math.
Like many parents of children with hemophilia, going to school can be worrisome. But Jennifer says the transition has gone smoothly. “When Nicholas started kindergarten we did an educational presentation with the school nurse and the class. They have all his records, they know about his factor, and if there’s a problem, they’ll call us,” she says. “They recently called us when he lost a tooth, in fact, for some reason he chooses to lose teeth at school, so we’ve received quite a few calls for that. We’re happy we have a good connection with the school and a close relationship with the school nurse.”
Jennifer and the whole family also have a close relationship with their local hemophilia chapter. “We all attend hemophilia events,” she says, “and I serve on the board for the Hemophilia Foundation of Maryland. We are very fortunate to have found the Coalition for Hemophilia B, which has been a godsend for us. The coalition has been so important, especially because it’s dedicated to hemophilia B and we, as parents, are able to listen to the latest research and learn about what’s going on in the community.”
Even Jennifer’s 19-year-old daughter, Kaitlyn, is actively involved with the hemophilia community. “She’s a freshman in college now, going to nursing school, and received a scholarship this past fall from the Maryland chapter for hemophilia. As her school schedule permits, she will go out of her way to attend events and was most recently at the annual meeting.” Jennifer also points out that Kaitlyn has chosen to focus on pediatrics in nursing school and believes helping out with her brother and younger sister Megan, 16, who has Williams syndrome, has played some part in that decision.
Today, Jennifer says they are all doing great, including Megan, who recently underwent open-heart surgery for an occluded artery. The family is also very busy with Emily, 10, who is very helpful with and close to her brother, even with her calendar full of activities including soccer, basketball, swimming, and acting.
As far as Nicholas’ treatment goes, Jennifer says they make sure to keep him involved to educate him about hemophilia B and include him in his care, since he will have to eventually take over his treatment. “He attends hemophilia events and he got to go to camp for the first time this past summer,” she says. “He got to learn about infusing and learned a lot from the older boys in the camp.”
Overall, Jennifer has only positive things to say about the whole family and their experience living with hemophilia B. “We’re doing great; Nicholas is doing great. It was scary when he was born, but I really truly feel that it’s made us stronger as a family. It hasn’t changed the way that we live our lives. We don’t live it for hemophilia. We’ve made so many life-long friends through the hemophilia B community who we probably never would have known had Nicholas not had hemophilia. We’re very blessed with the friends that we have and with the community that we have. We are truly blessed that he’s doing so well and getting the care that he needs.
Wayne Cook, president of the Coalition for Hemophilia B, Inc., father of three, golfer, car enthusiast, a person with hemophilia B, and a long-time mentor to the hemophilia B community, tells us very clearly, “I want to live a long, happy life. I want to do the things I love. I am now about to start a new chapter in my life.”
Wayne was diagnosed with hemophilia B when he was 6 years old after a head injury called attention to his bleeding disorder. At that time, he was treated with fresh frozen plasma and spent days in the hospital. Wayne reminds us, “Medicine has come a long way since then in how they diagnose and treat hemophilia B.” His initial treatment was managed by the family physician, and it wasn’t until 1985 that Wayne became a patient at a hemophilia treatment center.
“I don’t focus on hemophilia B. The quality of factor products today has helped us to lead better lives, and I am very proactive with my own care. I always take care of myself. I infuse as prevention, if I am doing something that may cause a bleed,” states Wayne. Because of his health issues, Wayne was not able to exercise much, and he developed a weight problem. This in turn led to other health problems unrelated to hemophilia B. When asked how he manages to lead such an active life anyway, Wayne said, “My hemophilia B is second nature to me now. I go for checkups every 6 months, and I am too busy with my life to let hemophilia B rule me.”
Wayne is an aging person with hemophilia B. He has lived through many life stages to get where he is today. He has other medical problems in addition to hemophilia B, including cardiology issues. Wayne has been through several surgeries. He was asked how he managed all of this while raising a family and how he is managing life now as an aging person with hemophilia B. Wayne’s strongest advice to other aging persons with hemophilia B is, “Communicate with every member of your care team all the time. Become your own advocate and insist that they speak with you and each other about your care.” Before Wayne enters into any surgery, he gets the treatment team together to discuss his physical condition, what FIX he is taking and how much. “Communication between the doctors is so important,” says Wayne. He will always stay in contact with all of his physicians and ask them if there is anything special he has to do. He keeps an ongoing list of all his medications with him at all times and stays much attuned to any signs and symptoms that he notices when they develop. “As we age, problems do develop, and letting your physician know right away is the best way to deal with them,” Wayne advises.
Wayne has recently started a new chapter in his life. He recently remarried, and he and his wife purchased a big country home on 4 acres of land in upstate New York. He also started playing music again, specifically, the drums. “I’m enjoying life,” he says, “my kids are a little older, so life is a little more independent; it’s just me and my wife.”
As far as his hemophilia is concerned, he says not much has really changed. “I’m not having as many bleeds as I used to. I have developed some aches and pains as I’ve grown older, but I think that’s just part of aging and not so much because of hemophilia.”
Wayne advises people with hemophilia to be proactive about their health. “Think about other issues beyond hemophilia—other comorbidities, other health issues, such as diabetes, heart conditions, high blood pressure. I wish I would have tried to stay a little healthier earlier in my life, I’m healthier now today than I was then, but I think I should have tried to be healthier in my 30s and 40s.”
He also urges people to consider their future retirement plans and focus on staying healthy to care for loved ones or spouses. “As we grow older, so do our loved ones, our spouses and significant others, and we need to worry about them too. We need to think about taking care of them and make sure they’re healthy too, because sometimes we have to become a caregiver to them.”
Looking toward the future, Wayne says he’s looking forward to retiring and moving somewhere warmer with access to beaches and golf nearby. “I plan on living as long as I can live and enjoying my life. I always like to tell people, ‘Try not to sweat the small stuff. The small stuff can really wear on you. You really don’t need to let the small stuff bother you.’”
When Elizabeth was in third and fourth grades, she was very angry that she had hemophilia B. “There was a stage when I was so angry. I am over that now, and in order to do what I want to do, I just accept it and move on. I don’t talk about it much at all. My classes at school are all single gender, so it has not been an issue.” Her hemophilia B has mainly impacted her physical education classes.
Elizabeth has been learning to self-infuse and is doing well. She feels that she will definitely be able to do this herself as she gets older and when she goes to college.
The hemophilia B community is now much more accepting of Elizabeth and other women with bleeding disorders. Elizabeth has been doing what she can to inform people about women with hemophilia B and explain how she is coping. When she was in New York, she spoke to children with hemophilia about the disorder and how to manage daily challenges. She credits her family with being a great support and says her sisters think it is cool that she is doing her own self-infusing.
When asked about her future, she says that she is already thinking about how she will need to consider specific jobs and insurance plans. She says she may consider becoming a teacher and shares that she loves music and golf. “I love golf, but I am not into many other sports. I am more of a musical person—I play the piano, flute, and guitar.” Elizabeth has plans like any other teen. She says, “I’ll progress normally like anyone else. Hemophilia B doesn’t define me, it’s only a part of who I am.”
Elizabeth, now 18, has a lot to look forward to as she heads off to college this fall. She’s especially looking forward to the removal of her port this summer.
Over the years, Elizabeth has learned how to self-infuse. Initially, she experienced a lot of anxiety about it, but after attending Camp Little Oak the past 2 summers, she’s gained a lot of confidence and has become better at self-infusing.
While her involvement in the hemophilia B community has lessened over the years due to the demands of being a busy high school student, and she will soon face the demands of a busy college student, Elizabeth continues to participate as she can. In fact, she recently attended a symposium in New York where she led the team session and self-infused in front of everyone. She talked through the process and answered questions from young kids in attendance.
Being a young woman with severe hemophilia may be rare, but Elizabeth has it under control. She manages her care by ordering her own factor and is making arrangements to have a nurse nearby when she goes away to college.