Begging Your Pardon, Ma’am

This past week I received two messages in response to our August issue of PEN, from two different people, both concerned about our predominant use of the word “he” whenever we wrote about hemophilia in the issue. Was it an oversight? Aren’t we aware of the growing movement to get women recognized not just as carriers, but as people with hemophilia? It matters: women as just carriers with symptoms don’t get the same treatment or attention as males with hemophilia. And this can be dangerous.

We certainly recognize this and wrote a full feature article about this in the November 2016 issue of PEN. And just a year ago, this great article below by Paul Clement. On page two of each issue we always state why we predominantly use the word “he”: because mostly it’s men who currently make up the majority of cases of hemophilia, but also, as writers and editors, it’s awkward to write he/she, or even to use “they.” However, back to the editorial board on this one! We will convene as a team, and decide for each article how to include the words she, girl, her more often. We promise. We are grateful to our readers for alerting us to this, and all we can say is, please accept our apologies. We will work to include women as patients, not just parents, more often in our publications.

 

And the Survey Says . . .  Carriers, Get Tested!

Paul Clement

Women have hemophilia too! Although much progress has been made over the past two decades in getting this message out, public awareness of bleeding disorders among women is dismal. Even women who are known carriers of the gene for hemophilia often don’t realize that they can have hemophilia and be at risk of bleeding. Even carriers confirmed to have bleeding problems, and diagnosed as “symptomatic carriers,” have run into roadblocks in accessing proper care.

Why are so many women undiagnosed?

The main reason is that they don’t suspect they have a bleeding disorder and don’t seek medical treatment. In spring 2010, a national study surveyed 1,243 women from the general public, aged 18 to 25, to assess their knowledge, attitudes, health behaviors, and menstrual experiences.1 Many questions were designed to determine if women knew the difference between “normal” and “abnormal” bleeding patterns. The results were disheartening. Most knew that a bleeding disorder is a condition in which bleeding takes a long time to stop (77%), or blood does not clot (66%). But the women surveyed didn’t know much about bleeding disorders, and only a few could identify risk factors for a woman with a bleeding disorder: periods lasting eight days or longer; bleeding through a pad or tampon in an hour or less; feeling a sense of flooding or gushing. Of the women surveyed who were identified as having one or more of these risk factors, only 20% had sought medical attention, and only 2% had been diagnosed with a bleeding disorder. Contrast this with studies showing that on average, 13% of women seeking medical treatment for menorrhagia (heavy periods) have von Willebrand disease (VWD)!2

Bottom line: Most women don’t seek medical treatment for menorrhagia, and if they do, few are correctly diagnosed with a bleeding disorder. To increase awareness, National Hemophilia Foundation (NHF), Hemophilia Federation of America (HFA), and other advocacy organizations have launched multiple programs for women with bleeding disorders. These organizations are now doing a great job providing resources for diagnosed women. But it’s obvious that we must do a better job, to reach more women in the general population—to educate them about the risk factors and encourage them to seek medical treatment.

Lack of physician awareness

What happens when women do seek medical treatment? We’ve made some headway, as results from two different surveys show. A 2002 survey of 376 members of Georgia Chapter of the American College of Obstetricians and Gynecologists wanted to understand methods of diagnosing and treating menorrhagia, and to determine physicians’ experiences and perceptions about bleeding disorders, particularly VWD.3 The results were enlightening—and

shocking. Only 3% of responding physicians considered VWD a likely cause of menorrhagia in women aged 15 to 44. When asked how many women with menorrhagia might have an

inherited bleeding disorder, physicians’ average response was “less than 1%.” Most shocking: after practicing an average of 20 years, 42% of responding physicians reported never

having seen a woman with menorrhagia who had a bleeding disorder. But statistically, each physician annually saw several hundred patients with menorrhagia who had VWD!  Not surprisingly, the survey showed that gynecologists rarely (3%) refer a woman with unexplained menorrhagia to another specialist.

Fast forward a decade. In 2012, a similar survey of 503 ob-gyns had more positive results: nearly 39% of obstetricians and 77% of gynecologists were likely to consider VWD or another bleeding disorder as a cause for menorrhagia.4 And over 80% who had seen patients with menorrhagia attributed the problem to a bleeding disorder. Perhaps most important, instead of referring patients to specialists only rarely, most physicians referred patients with menorrhagia to other healthcare providers, nearly 45% to hematology.

Although it’s hard to compare surveys of different physicians a decade apart, the change in demographics of the patient population at hemophilia treatment centers (HTCs) also reflects an increased awareness in the medical community of bleeding disorders in women. Between 1990 and 2010, the HTC population grew 90% from 17,177 to 32,612—and most of this increase was due to additional VWD patients.5 This increase is expected to continue; unfortunately, these numbers only scratch the surface of the estimated 3.2 million people in the US with VWD, half of them women.6

Hemophilia carriers with low factor levels

The normal range of factor VIII and IX is between 50% and 150%, with most people being close to 100%. Factor VIII levels often vary, and may more than double due to the effects of hormones and other variables, such as stress or pregnancy. Factor IX levels

normally remain fairly stable. Being a carrier for hemophilia puts

a woman at risk of bleeding because of low factor levels. Carriers usually have factor levels between 30% and 70%, with most around 60%. But factor levels in carriers can vary widely, with some in the high-normal range and others below 10% (in extremely rare cases, below 1%). Research shows that even women with mildly low factor levels—40% to 60%—are at risk of bleeding.7 They may experience not only menorrhagia, but bleeding after tonsillectomy, tooth extractions, surgery, or trauma from accidents; and prolonged bleeding from minor cuts or joint bleeds. This isn’t well known among many carriers, so they may not seek treatment.

Every bleeding disorder advocacy organization offers educational materials on this topic, and it’s probably a safe guess that every chapter newsletter has published multiple articles on the risk of bleeding in carriers. Yet for a variety of reasons, the message hasn’t been received by everyone affected.

But simply seeking medical treatment for excessive bleeding may not be enough—you may have to advocate for yourself. Carriers with bleeding problems are often diagnosed as “symptomatic carriers,” and a course of treatment is recommended. Everything should be okay for these women, right? Not necessarily. The word “carrier” often conveys the wrong meaning. In decades past, it meant you had the gene for a disorder, but you yourself didn’t show symptoms of the disorder. Many physicians who are not bleeding disorder specialists still have this definition in mind, but we now know that carriers can indeed have the genetic disorder. We don’t know for sure how many carriers have excessive bleeding, but a common estimate is that about one-third of carriers have factor levels below 50%, placing them at risk. These women have a factor deficiency and mild hemophilia. They have often been diagnosed as symptomatic carriers because some doctors resist using the word hemophilia based on the simplistic notion that “only males can have hemophilia.”

The symptomatic carrier diagnosis must be laid to rest. Not only is it misleading, but it often prevents women from getting the treatment they need. And insurance companies increasingly use a literal definition of “carrier” to deny coverage for treatment, arguing that symptomatic carriers don’t actually have the disorder. If your factor level is lower than 50%, request a diagnosis of mild (6% to 49%) or moderate (2% to 5%) hemophilia!

Knowing your factor level is essential. To rule out low levels, all women who are carriers should have their factor level checked (and if you are a carrier for hemophilia A, checked at least twice). If your levels are below the normal range, request a diagnosis of hemophilia. And get the word out: talk to your peers and let them know that most carriers are at risk of excessive bleeding.

 

  1. Patricia A. Rhynders et al., “Providing Young Women with Credible Health Information about Bleeding Disorders,” American Journal of Preventive Medicine 47, no. 5 (2014): 674–80. 2. M. Shankar et al., “Von Willebrand Disease in Women with Menorrhagia: A Systematic Review,” BJOG 111 (2004): 734–40. 3. A. Dilley et al., “A Survey of Gynecologists Concerning Menorrhagia: Perceptions of Bleeding
Disorders as a Possible Cause,” Journal of Women’s Health & Gender-Based Medicine 11 (2002): 39–44. 4. Vanessa R. Byams et al., “Evaluation of Bleeding Disorders in Women with Menorrhagia: A Survey of Obstetrician-Gynecologists.” American Journal of Obstetrics and Gynecology 207, no. 4 (2012): 269.e1–e5. 5. Judith Baker et al., “US Hemophilia Treatment Center Population Trends 1990–2010: Patient  Diagnoses, Demographics, Health Services Utilization,” Haemophilia 19 (2013): 21–26. 6. F. Rodeghiero et al., “Epidemiological Investigation of the Prevalence of von Willebrand Disease,” Blood 69 (1987): 454. 7. I. Plug et al., “Bleeding in Carriers of Hemophilia,” Blood 108, no. 1 (2006): 52–56.

Originally published in PEN, August 2017

 

 

Thank you, Barry!

On Friday I went for a 32-mile bike ride, on my usual route that winds through back roads of the north shore of Massachusetts, out to Plum Island to the ocean. It’s a ride I did with Barry Haarde twice, and I thought of how he pushed me into cycling longer than my usual 12 miles, and faster than my usual 13 mph. I actually clocked myself at 15.7 mph. Not bad for age 60.

Last Sunday, August 12, we gathered on a different beach, Odiorne Point in New Hampshire, to remember Barry and his amazing contributions to our community and in particular to the nonprofit I founded, Save One Life. About 50 people from all over the country: California, Connecticut, Denver, Texas, Washington DC and Barry’s family from Florida, trooped in with bicycles to recreate the last 10 miles of his first cross-country journey.

Martha Hopewell, executive director of Save One Life, gave a deeply stirring speech that highlighted Barry’s achievements and impact:

“It was just seven years ago, on this very same day, we celebrated Barry’s first ride across the US at Laurie’s house. We toasted his 3,667 miles and had no clue, at that time, that he would ride 16,728 more or, for that matter, raise over $250,000 for Save One Life!

“Barry’s accomplishment comes after much physical hardship. Barry contracted HIV in the 1980s from contaminated blood products used to treat his severe hemophilia. He also contracted hepatitis C, which required four years of grueling interferon treatments, during which he almost lost his life.” Barry didn’t publicly reveal his HIV status until 2008. “Once Barry made that courageous choice, however, he has been an increasingly vocal advocate for the hemophilia and HIV communities ever since.”

Martha Hopewell, Director of Save One Life

“When Barry undertook his first tour in 2012, he rode for 50 days through ten states and Canada. In addition to raising funds to help needy children, you all know that each day he rode in memory of family and friends lost to AIDS. When Barry finally dipped his wheel in the Atlantic after his first comment was, “Let’s do it again next year!” “And so he did, with the team at Save One Life, his employers at Hewlett Packard and many supporters encouraging him as he overcame physical and psychological barriers to make history. Barry’s goal was to ride through every state. He didn’t quite make it, but his Wheels for the World rides got him to 37 of them…not bad at all!” “We celebrate Barry today. We will forever cherish his enthusiasm for riding and his passion for his blood brothers and sisters around the world. He is here with us at this very special memorial. God bless Barry, and all those in whose hearts you will always live.”

We lost Barry in February. Not everyone knows this, but he took his own life. Despite his beloved status in our community, his fame, with years still ahead of him, he could not outride the darkness that dogged him. Teddy Roosevelt, one of our most accomplished of presidents, and an athlete in his own right, suffered from depression, and wrote, “Black care rarely sits behind a rider whose pace is fast enough.” Barry once told me, “Endurance athletes like me aren’t always heading towards a goal; we’re often running away from something.”

As I rode back from Plum Island on Friday, I could vividly see in my mind Barry ahead of me, his lanky figure balanced on his carbon-framed steed, his left hand shooting our and pointing downward each time we neared a pothole or a crack in the asphalt. His way of warning me of danger ahead. I thought, maybe his legacy is not so much how much money he raised, but of the need to be aware of our community’s potholes and cracks—the mental health issues, particularly depression, that lurk insidiously in our community. I hope addressing these becomes Barry’s true legacy.

Read the press release about the even August 12. Link here https://www.prweb.com/releases/cyclist_barry_haarde_honored_for_his_legacy/prweb15699984.htm

Thanks to our co-host, New England Hemophilia Association, to board members Ujjwal Bhattarai and family, Myrish Antonio and husband Jojo, Chris Bombardier and wife Jessica for attending, to our staff at Save One Life (Martha, Jodi Kristy), to all of Barry’s dear friends who attended, and to Shire and Aptevo Therapeutics, The Alliance Pharmacy and George King Bio-Medical for making this event possible. 

Martha also added thanks to the corporations that sponsored Barry’s rides over the years. The biggest sponsor was Baxter/Baxalta, which contributed almost 40% of Barry’s total with $100,000.  The Alliance Pharmacy distinguished itself as being the only company to support all six of Barry’s rides for a total of $30k.  Biogen/Bioverativ, Bayer Healthcare, George King Bio-Medical, Amerisource Bergen, Matrix Health Group, Aptevo Therapeutics, American Homecare Federation, Emergent Biosolutions and Optum Rx also contributed to this success.

 

Wheels for the World was championed by the Lone Star Chapter of Barry’s home state of Texas, Hemophilia of Indiana, NEHA and Sangre de Oro. The Colburn Keenan Foundation also gave in 2014.

 Most special to Barry were the nearly 250 individuals who gave to his effort. Priscilla Oren was the first donor of every ride! She is joined by Kevin Anderson and Lisa Schober who devotedly donated to all six rides.

 

 

Shire’s pursuit of a zero-bleed future

The following is sponsored by Shire. Change is good, unless it affects your treatment. Here, we bring you interesting facts about Shire’s products…and reputation as an industry leader. While companies can undergo name changes in our community’s long history, the products remain the same, as does Shire’s commitment to patients.

Laurie

This is a paid public announcement from Shire and does not constitute an endorsement of products or services. When you click on the links in this blog entry, you will be directed to the ADVATE ® [Antihemophilic Factor (Recombinant)] website. LA Kelley Communications always advises you to be a savvy consumer when contacting any company; do not reveal identifying information against your will.

For over 7 decades, the rare bleeding disorders teams that are now part of Shire have worked toward transforming ideas into products that have the potential to change the lives of patients by reducing bleeds.1,2

ADVATE ® [Antihemophilic Factor (Recombinant)] was one of those ideas, and in 2003, it was introduces as the first recombinant factor VIII free of blood-based additives. ADVATE is not used to treat von Willebrand disease; do not use ADVATE if you are allergic to mice or hamsters or to any ingredients in ADVATE.3-5

In 2011, ADVATE was approved for routine prophylaxis in adults and children with hemophilia A.3 Did you know that in a clinical study ADVATE reduced bleeds by 98% when patients switched from on-demand to prophylaxis?3,6

What is Prophylaxis in Hemophilia A?

Prophylaxis refers to regular infusion of clotting factor concentrates to help prevent bleeds from occurring.7 In the case of hemophilia A, one option is taking ADVATE prophylaxis to try and help prevent a bleed from occurring.3

In a clinical study:

  • There was a 98% reduction in bleeds (median annual bleed rate [ABR] from 44 to 1^1 ) when patients switched from on-demand to prophylaxis3,6
  • Patients experiences a 97% reduction in joint bleeds (from 38.7 to 1 median joint ABR) after switching from on-demand to prophylaxis3
    • 42% of patients experiences zero bleeds during 1 year of prophylaxis with ADVATE (22 out of 53 patients in the per-protocol* group)3

The clinical study mentioned above was a multicenter, open-label, prospective, randomized, 2-arm, controlled postmarketing clinical study of the relative efficacy of ADVATE use in 2 prophylactic treatment regimens compared to that of on-demand treatment; 53 previously treated patients (PTPs) with severe to moderately severe hemophilia A (FVIII level <2 IU/dL) were analyzed in the per-protocol group. Subjects were initially treated for 6 months of on-demand therapy and then randomized to 12 months of either a standard prophylaxis regimen (20-40 IU/kg every 48 hours) or a pharmacokinetic-driven prophylaxis regimen (20-80 IU/kg every 72 hours). ABRs for the two prophylaxis regimens were comparable.3,6

You should also know important safety information about ADVATE, such as symptoms of an allergic reaction to ADVATE, that your body may form inhibitors to factor VIII that may stop ADVATE from working properly, and the most common side effects.3 See additional safety information below this video and talk to your doctor to see if ADVATE may be right for you.

Want to learn more about how we do it? We went to one of our manufacturing facilities to show you just how much detail goes into each little vial.

Watch it here.

ADVATE [Antihemophilic Factor (Recombinant)] Important Information

What is ADVATE?

  • ADVATE is a medicine used to replace clotting factor (factor VIII or antihemophilic factor) that is missing in people with hemophilia A (also called “classic” hemophilia).
  • ADVATE is used to prevent and control bleeding in adults and children (0-16 years) with hemophilia A. Your healthcare provider (HCP) may give you ADVATE when you have surgery.
  • ADVATE can reduce the number of bleeding episodes in adults and children (0-16 years) when used regularly (prophylaxis).

ADVATE is not used to treat von Willebrand disease.

DETAILED IMPORTANT RISK INFORMATION

Who should not use ADVATE?
Do not use ADVATE if you:

  • Are allergic to mice or hamsters.
  • Are allergic to any ingredients in ADVATE.

Tell your HCP if you are pregnant or breastfeeding because ADVATE may not be right for you.

What should I tell my HCP before using ADVATE?
Tell your HCP if you:

  • Have or have had any medical problems.
  • Take any medicines, including prescription and non-prescription medicines, such as over-the-counter medicines, supplements or herbal remedies.
  • Have any allergies, including allergies to mice or hamsters.
  • Are breastfeeding. It is not known if ADVATE passes into your milk and if it can harm your baby.
  • Are or become pregnant. It is not known if ADVATE may harm your unborn baby.
  • Have been told that you have inhibitors to factor VIII (because ADVATE may not work for you).

What important information do I need to know about ADVATE?

  • You can have an allergic reaction to ADVATE. Call your HCP right away and stop treatment if you get a rash or hives, itching, tightness of the throat, chest pain or tightness, difficulty breathing, lightheadedness, dizziness, nausea or fainting.
  • Do not attempt to infuse yourself with ADVATE unless you have been taught by your HCP or hemophilia center.

What else should I know about ADVATE and Hemophilia A?

  • Your body may form inhibitors to factor VIII. An inhibitor is part of the body’s normal defense system. If you form inhibitors, it may stop ADVATE from working properly. Talk with your HCP to make sure you are carefully monitored with blood tests for the development of inhibitors to factor VIII.

What are possible side effects of ADVATE?

  • Side effects that have been reported with ADVATE include: cough, headache, joint swelling/aching, sore throat, fever, itching, unusual taste, dizziness, hematoma, abdominal pain, hot flashes, swelling of legs, diarrhea, chills, runny nose/congestion, nausea/vomiting, sweating, and rash. Tell your HCP about any side effects that bother you or do not go away or if your bleeding does not stop after taking ADVATE.

You are encouraged to report negative side effects of prescription drugs to the FDA. Visit www.fda.gov/medwatch, or call 1-800-FDA-1088.

For additional safety information, click here for Prescribing Information and discuss with your HCP.

*Per-Protocol: subjects who had >90% of the predicted number of infusions and no major   protocol deviations.6

†44 bleeds (IQR, 20.8), 1 bleed (IQR, 4.1); IQR=Interquartile range, the range of values of the variable in a statistical distribution that lies between the upper and lower quartiles.8

References:

  1. Our Story. Our History. https://www.baxter.com/our-story/our-history. Accessed June 25, 2018.
  2. About Shire. Our story. https://www.shire.com/who-we-are/our-story. Accessed May 1, 2018.
  3. ADVATE Prescribing Information.
  4. Négrier C, Shapiro A, Berntorp E, et al. Surgical evaluation of a recombinant factor VIII prepared using a plasma/albumin-free method: efficacy and safety of Advate in previously treated patients. Thromb Haemost. 2008;100(2):217-223.
  5. Grillberger L, Kreil TR, Nasr S, Reiter M. Emerging trends in plasma-free manufacturing of recombinant protein therapeutics expressed in mammalian cells. Biotechnol J. 2009;4(2):186-201.
  6. Valentino LA, Mamonov V, Hellmann A, et al. A randomized comparison of two prophylaxis regimens and a paired comparison of on-demand and prophylaxis treatments in hemophilia A management. J Thromb Haemost. 2012;10:359-367.
  7. What is Prophylaxis? https://www.wfh.org/en/abd/prophylaxis/what-is-prophylaxis. Accessed June 4, 2018.
  8. Interquartile Range definition. MedlinePlus.
    https://www.merriam-webster.com/dictionary/interquartile%20range. Accessed May 10, 2018.

© 2018 Shire US Inc., Lexington, MA 02421. All rights reserved. 1-800-828-2088.
SHIRE and the Shire Logo are registered trademarks of Shire Pharmaceutical Holdings Ireland Limited or its affiliates.
ADVATE is a trademark or registered trademark of Baxalta Incorporated, a wholly owned, indirect subsidiary of Shire plc.
S39238 07/18

Embracing the Unique

Previously printed in PEN, May 2018

When children are diagnosed with hemophilia, they are each given an essential diagnostic label: for example, hemophilia A or hemophilia B, severe, moderate, or mild. These labels originate from a lab analysis of the child’s blood. The diagnosis determines what type of factor replacement therapy each child will get. Labels like these can help draw a picture of who your child is and what he or she needs. But when it comes to dosing and prophylaxis regimen, sport choices and bleeding patterns, and even pain management, your child with hemophilia is unique. Diagnostic labels don’t adequately explain a person’s individuality and needs.

We asked parents from Facebook about their children with hemophilia: Has anyone ever used the labels of hemophilia to categorize your child, which resulted in limiting treatment options, or limiting what people think your child can do? What is it about your child that is not “typical” for someone with hemophilia? The responses poured in. While a child’s uniqueness may be revealed in a preference for certain sports or a physiological reaction to a particular product, most of the parental responses we received were about each child’s unique half-life, and about subsequent bleeding patterns.

Half-life was barely mentioned when my son was born. In the late 1980s and early 1990s, we dosed his factor using a chart based on his weight; it was very mathematical. We took one-half of his weight in kilograms times the factor level we desired, and this equaled the number of units of factor VIII we needed to infuse. Over time, as parents, we developed intuition about how much or how little factor our son needed based on his response to factor and his bleeding patterns, and we could adjust his dosage ourselves.

Up until about the last 10 years, hemophilia treatment centers (HTCs) often prescribed factor dosages based on weight, and determined a prophylaxis regimen based on a strict protocol from clinical studies. We now know that every child needs to have a pharmacokinetic (PK) or recovery study done to determine his or her individual, unique half-life response to a specific factor VIII product. Determining the unique half-life can help hone the amount of factor a child should receive, or indicate the best prophy regimen. A short half-life may mean more frequent infusions, higher doses, or the use of extended half-life products.

If anyone knows about the uniqueness of factor half-lives in children with hemophilia, it’s June Reese, who has four sons with hemophilia. She says, “One son has always had a short half-life and has really struggled with bleeds. His teachers often compare him to his brothers, one of whom never bleeds.” And this was a problem for the Reese family: in categorizing two brothers with textbook half-lives as “normal” for hemophilia, teachers dismissed the third brother’s frequent bleeds—they thought he was being careless, or worse, that he was imagining the bleeds.

Crystal Eskine has two sons with severe hemophilia A, ages 9 and 10. “I expected two similar stories,” she laughs. Despite having the same diagnosis as his brother, Crystal’s 10-year-old bleeds spontaneously, “if you look at him too hard.” Her younger son “never needs factor,” and “he isn’t even on prophy he bleeds so little!” When Crystal’s doctor wanted her to adhere to a traditional dosage and infusion schedule with her older son, her gut instinct told her it wasn’t good enough. She knew her children’s unique responses to factor. “I started giving my older son double doses. I took notes, showed our doctor, but he still he thinks I’m worrying too much, while I still don’t think the dosing regimen is good enough.” Crystal continues, “I’ve asked for a PK test, with blood samples taken over a much longer time period, but he has said no.”

And then there is Jen Miller’s five-year-old with severe hemophilia A. Jen calls him a “typical boy” who enjoys video games, swimming, T-ball, and playing with his friends. His

factor half-life is very short, which is not typical, but this doesn’t seem to impact his bleeding patterns.

When a shorter half-life does impact bleeding patterns, and parents instinctively know something isn’t right, they need to alert their HTC staff, sometimes to prove that their child does not fit a category or label. In these cases, parents should request a PK study. Crystal laments, “My boys’ hematologist makes me feel like I’m doing something wrong, but refuses to do a PK study.” June adds, “For years, our medical staff acted as though we were to blame when he’d have bleeds—even though he was infusing regularly.”

Kate Stotz, who has a 22-month-old with severe hemophilia A, felt she had to fight against the standard prophy infusion schedule of three times a week. “This was not working for our son,” she explains. “He was having frequent bleeds on Sunday, the day he was unprotected. Trough levels indicated that in order to maintain a minimal 1% trough, we could not exceed 48 hours between infusions.” Though Kate wanted to infuse every other day to keep him protected, her son’s hematologist didn’t want to break from the traditional schedule the HTC normally prescribed. “It took a lot of advocating on our part and ultimately finding a new doctor at a different HTC.”

Sarah Hueston successfully advocated for a new prophy regimen for her 16-year-old son with severe hemophilia A, who plays two varsity sports. When they determined he had a short half-life, the HTC team, Sarah, and her son developed his treatment plan together. He now infuses standard factor daily. “It’s what works for us,” says Sarah, “and his doctors are so proud of him, as are we, his family! Never did we think he’d be doing the things he’s doing even 10 years ago!”

By logging her son’s bleeds, Stacey Mollinet was able to convince her HTC team to change the treatment schedule. When her son with severe hemophilia A was a young teenager, he didn’t bleed like a typical severe and was not very active by nature. “I had to push the HTC,” she recalls, “so he could treat only twice a week, instead of a standard prophy schedule.” Around age 14, he started to bleed more like a typical severe. So Stacey worked with the HTC to adjust her son’s dosing schedule, and ended up dosing every other day until he switched to extended half-life factor two years ago.

“There’s not a one-size solution for everyone,” Stacey has learned. “Keeping good infusion and bleed logs so you know what schedule works best to prevent bleeding is important.”

Crystal laughs, “I could probably write a book about all the ways my boys ‘differ’ from the typical definition of hemophilia.”

And in a community where boys “typically” have hemophilia while women are carriers, women are now advocating to redefine what it means to have hemophilia. Labels have their place, but when we define hemophilia and determine treatment plans, we sometimes need to look outside the box at hemophilia—and trust the parents and patients when they describe their own uniqueness and needs.

Did you miss our May issue of PEN? Download it on our website today!

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