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From Disability to Doctor: Cristian of Romania

admin December 1, 2024

My name is Cristian Dragusin and I am a person with severe hemophilia from Romania. I am 25 years old and have recently graduated medical school. Things are looking up for my life but there were moments in the past when I could have never seen myself achieve everything I did. It was only with the support of the people around me that I was able to get this far and look forward to the future, in spite of my condition.

My early childhood was not as affected by my disorder as the later years, with only some occasional bleeding episodes. As I started school, however, the bleedings became more frequent and debilitating, the right elbow being the first target joint. Access to treatment was limited because I developed inhibitors, and there was no prophylaxis to speak of. The pain would keep me up at night and treatment often only consisted of cold compresses.

When I was 12, I had a severe episode that involved both my knees. I was in and out of the hospital for several months and there was long lasting damage. Around that time, my parents divorced and my mother was left alone to take care of me with help from my grandparents. The frequent and long periods of hospitalization were difficult to say the least. It was also at that age when I went to my first hemophilia camp, where I got to meet and befriend many other children like me. I was using a wheelchair when camp first started and, by the time I returned home, thanks to the treatment I received, I could walk with crutches. Every year afterwards I would look forward to Camp Ray of Hope, the place where I could move and have fun without worries.

The second turning point was in high school, when I had another severe event involving my knees. There were times when not even the hospital had any treatment available. Both of my knees were now permanently affected and I couldn’t walk without crutches anymore. This was the most hopeless time of my life.

As high school was nearing its end, I had to choose what I was going to do next. After long considerations and changes of heart, medical school seemed to be the path for me. Working in this field was something that just resonated with me after all the time spent in the hospital. And by the time high school ended, I finally gained access to prophylaxis and the number of bleeds decreased drastically: better later than never.

University came with its own set of problems. Courses and rotations were often in different parts of the city and there were many costs associated with school and living in a different place on my own. It was thanks to my family and the support offered by Save One Life that I managed to finish it without a hitch. The sponsorships and scholarships I received from Save One Life over the years were especially of great help in easing the financial burden.

Looking back, the journey to this point in time wasn’t the happiest so I am extraordinarily grateful to the people that were by my side, and especially to my mother, who has done everything in her power to make my life easier. Now I have proper access to treatment and will start working in a couple of months, a scenario which was merely a dream years ago, and I intend to live this dream to the fullest.

The Hemophilia Viking

admin November 20, 2024

There are a lot of colorful characters in the hemophilia community—and competitive athletes. Put them together you have Cobus Visser.

Cobus is from South Africa, has hemophilia and has quite a story to tell. From our wonderful archivist, Richard Atwood of North Carolina, comes a review of Cobus’s new book, Walking Through Fire. Read on and get motivated!

A quick bio: Cobus was born on November 2,1982 in Vereeniging, South Africa, to Theunis and Ansie Visser. He had a Christian upbringing. His great-grandfather was Charles Robert Swart, the first state president of the Republic of South Africa (1961-1969). Bruises at three months led to a diagnosis of hemophilia A. Both Cobus and his brother, Riann, had hemophilia; Pierre, the third brother, did not. Cobus matriculated from Hoerskool Piet Potgieter in Potgietersrus, Limpopo. He earned a BBA in Marketing Management from IMM Graduate School, and is currently working on an MBA in Marketing from the University of Edinburgh. In 2005, Cobus married Mar-nelle, and the couple now have two sons: Tiann, born in 2009, and Wihan, born in 2014.

Growing up in South Africa in the 1980s wasn’t easy. Cobus attended a hemophilia clinic and had numerous hospital stays in Johannesburg due to bleeds in his ankles, knees and elbows. He did not play sports. He grew tall and became heavy, weighing over 260 pounds, and faced physical limitations. At age seven, Cobus learned how to self-infuse to treat bleeds. The product was plasma-based. A brain bleed in 1996 led to migraines and a coma, including an ICU stay, and three operations on the right side of his head. This was followed by subsequent brain bleeds in 2008 and 2015, and later an epileptic attack in 2017 that was treated with medicine.

In 2003, Cobus underwent radioactive utrum for his joints. He took Vioxx for pain and creatine for strength. The prognosis was to fuse both ankles and replace both elbows. Even with physiotherapy, Cobus relied on crutches and wheelchairs for mobility. A diagnosis of hepatitis C in 2012 led to injections of Copegus and Pegasys for 12 months. His father Theunis retired from the police force and opened a family business, called Furn4U/Modern Living, in Pretoria. Cobus’s younger brother Pierre already owned a dozen gyms. Cobus was expected to eventually run the family business, yet brother Riann would assume that role, when Cobus quit, in 2014, to be self-employed.

Starting in 2011, Cobus took courses in Mind Power, Sales Explosion, Unleash the Power, and NLP. He took the Firewalking Instructor Training (FIT) course, and by 2014 was the only Master Firewalking Instructor in Africa!

Cobus became a speaker, trainer, facilitator, life coach, mentor, author of three books, and instructor. He learned to walk on hot embers and shards of glass. In 2016, Cobus had an idea: to climb Mount Kilimanjaro in Tanzania on crutches! But how to fund the $3,300 to $4,300 fee? The hemophilia clinic doctors would not sign the medical clearance certificate. Cobus, suffering from depression, planned to let the mountain take his life. After two years of preparation, eight team members, plus 31 guides and porters, climbed Mount Kilimanjaro from July 9-18, 2018. Cobus injected 6,000 IU of factor every morning. The crutches chafed his underarms. He walked on the front of his feet and toes, which led to calf cramps. Stomach cramps and diarrhea complicated matters. He could not acclimatize, and suffered altitude sickness. He hired a personal porter for an extra fee to carry his bags and day pack. Cobus reached Stella Point at 18,884 feet on crutches, though never achieving the summit on Uhuru Peak. He then descended in freezing temperatures, facing altitude sickness, joint pain, and delirium. The porters carried Cobus on a stretcher, then used a “Kili Taxi” (a wooden wheelbarrow stretcher) before a helicopter flew him to a hospital for a short stay. Cobus left the mountain with a certificate and renewed zest.

Cobus eventually expanded his business, and in 2022, rebranded himself from “Superman of Africa” to “The Viking.” Cobus climbed Mafadi (11,305 feet), the highest peak in South Africa. He had a major medical procedure in 2019, then a severe case of Covid-19 in 2021. But nothing seems to keep him down for long. Cobus is recognizable for his height, hair, persona, smile, Afrikaans accent, and three-second hugs. And don’t forget— his exceptional skill in fire walking and glass walking!

You can order Walking Through Fire in Amazon.com. You can learn more at https://cobusvisser.com

Cobus Visser, 2024, Walking Through Fire. Centurion, South Africa. 289 pages.

Women and hemophilia: evolving knowledge, raising awareness, and sharing stories

admin October 27, 2024

Thanksgiving is all about quality time with loved ones. This year, November 28 is also National Family Health History Day, which encourages families to get together and share health experiences. Stories from relatives can help us better understand our own health risks—and its helpful information to share with your care team. It reminds me why it’s so crucial to share stories with each other. As we approach the 35th anniversary of my book Raising a Child with Hemophilia, which included stories from 125 families in the hemophilia community, I want to continue the tradition here! In this blog, Sanofi introduces you to a woman living with hemophilia, Kyrie, who shares how hearing about her mother and grandmother’s experiences with hemophilia shaped her own journey of self-advocacy.

Sponsored by Sanofi

While hemophilia is more common in men, women can also experience symptoms and receive a diagnosis. Because of a traditional
misconception that women are only carriers of hemophilia, they have historically not been tested and treated for the condition.¹This is
changing, thanks to emerging understanding and awareness of hemophilia in women.

Kyrie Smith lives with hemophilia and works as a Community Relations and Education (CoRe) manager at Sanofi. We sat down with her to hear how her family’s experience with hemophilia inspired her to get the care she needs, and how she’s empowering other women to do the same.

Please note that Kyrie’s story is hers alone. While there are common threads, everybody’s experiences with hemophilia will be different.

A legacy of advocacy

Photo caption: Kyrie and her grandmother, who was treated for hemophilia at a time when it was uncommon for women to be diagnosed.

Kyrie’s family history with hemophilia goes back to her grandmother. According to Kyrie, her grandmother was one of the first women to receive access to on-demand factor treatment for bleeds as they occurred. Kyrie credits her grandmother’s self-advocacy with helping her get treatment at a time when it was uncommon for women to be diagnosed, let alone treated.

“The ability for my grandmother to be prescribed factor to control a bad leg bleed was quite novel at the time,” Kyrie says. Hearing her grandmother’s story became her guiding light. “While she is no longer with us anymore, I often find myself thinking about her strength and resilience.”

Hemophilia affects both women and men in Kyrie’s family. Since Kyrie was a carrier of hemophilia and could become symptomatic, her mother advocated for Kyrie’s factor activity levels to be checked during her brother’s annual appointments. Her mother knew how women in the family experienced hemophilia, empowering her to have effective conversations with Kyrie’s doctor to get the care her daughter needed.

“I’m thankful for my mother’s persistence, as I was diagnosed so early in my childhood, when many women—including my mother—are often diagnosed later in life,” Kyrie says. “I am very proud to come from a long line of strong women who have advocated for the health of their family as well as themselves.”

Strength in sisterhood
Kyrie was first diagnosed as a symptomatic carrier of hemophilia and was prescribed a treatment to address bleeds and other symptoms as they occurred. A few years later, her diagnosis was updated to mild hemophilia.

“This change was due to the strong women and advocates in the hemophilia community that helped evolve the definition of symptomatic carrier to mild hemophilia, which is defined by factor activity levels,” Kyrie says. “I am honored to now join them in their work to increase visibility and voices of women with hemophilia.” While opening up about hemophilia can feel vulnerable, it also creates space to inspire others to better manage their health, too.

By working with her healthcare team, Kyrie has been able to manage her condition. That doesn’t mean, however, that the situation is without its challenges.

“From missing sports practices in high school to switching cardio workouts to avoid overworking my joints and managing pain, I’ve had to make some compromises along the way,” Kyrie says.

She’s grateful for the support and encouragement she’s received from the hemophilia community to help her get through difficult times. Kyrie started attending hemophilia camps at age 7, an experience she considers central to her continued sense of community.

“By having a mentor to look up to, or a peer to talk through an issue with, I’ve made lifelong friends from my time at hemophilia camps and other chapter or national events,” says Kyrie.

When to start asking questions
Awareness, testing, and diagnosis of hemophilia in women are increasing.¹ It can be difficult, however, to know whether the bleeding you experience is normal or abnormal. When in doubt, it’s best to speak to your doctor to discuss what’s going on.

The common signs of hemophilia in women include:²

Heavy menstrual periods, such as soaking through one or more pads or tampons every 2 hours or less³
Low in iron or have anemia
Frequent nosebleeds that last longer than 10 minutes
Bleeding from cuts lasting longer than 5 minutes
Easily bruised (raised and larger than a quarter, happening on a weekly basis)
Joint bleeds (pain, swelling, unusual sensations, warmth, loss of motion)
Family history of a bleeding disorder
Heavy bleeding from surgery

If you or someone you care about is experiencing the signs and symptoms above, consider reaching out to a doctor to explain what’s happening and get more information. If hemophilia runs in the family, it’s even more important to watch for these symptoms to help ensure all women get the care and support they need.

Coming full-circle
Kyrie now works as a Sanofi CoRe, which gives her the opportunity to pay forward the information and connection she has experienced from within the hemophilia community.

“Because the hemophilia community has played such a large role in my life, I want to continue giving back, being a resource for the next generation,” Kyrie says. “As a CoRe, I am able to connect with various members of the community no matter where they might be in their hemophilia journey. It could be a new parent navigating hemophilia care for their child, or it could be a young adult working to manage their hemophilia care independently.”

While everyone’s experiences with hemophilia are unique, Kyrie’s personal path gives her extra insight into what members of the community are going through.

“When I have the opportunity to connect with a young girl who is having hemophilia symptoms and needs to advocate for herself, I can really relate because I’ve been in her shoes,” Kyrie says. “The road to diagnosis and treatment can be long and confusing, but there are so many reasons to keep going and so many people to help you do just that. I hope by sharing my story, others will too, and together, we can continue empowering the hemophilia community to advocate for their care and supporting those in the earliest stages of their hemophilia journey.”

If you have a family history of hemophilia or you’re experiencing symptoms, you’re not alone. Make it a resolution to prioritize health in the new year and reach out to your doctor to start conversations about your care.

To learn more about women and hemophilia, including how it’s inherited, how it presents, and how to be your best self-advocate, visit RedefiningHemophilia.com.

This is a paid public announcement from Sanofi 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 a Sanofi website. LA Kelley Communications always advises you to be a savvy consumer when contacting any company; do not reveal identifying information against your will.

“Women can have hemophilia, too.” Centers for Disease Control and Prevention, https://www.cdc.gov/ncbddd/hemophilia/features/women-and-hemophilia.html
“Women and bleeding disorders.” National Hemophilia Foundation, https://www.hemophilia.org/bleeding-disorders-a-z/overview/women-and-bleeding-disorders
Menorrhagia (heavy menstrual bleeding).” Mayo Clinic, https://www.mayoclinic.org/diseases-conditions/menorrhagia/symptoms-causes/syc-20352829

MAT-US-2303664-v2.0-09/2024

Behind the Science: A Closer Look at How Current Hemophilia Treatments and Potential Innovative Rebalancing Therapies Can Help Achieve Hemostasis.

admin September 15, 2024

Let’s start with Hemostasis
Hemostasis is the body’s ability to stop and prevent bleeds. In hemophilia A or B, factor VIII or factor IX, respectively, is not working properly, leading to an imbalance between procoagulants and anticoagulants. This leads to excessive bleeding because the body is not creating enough thrombin.

Achieving a balance between procoagulants and anticoagulants allows the body to generate sufficient thrombin, which is critical to stop bleeds.

Procoagulants are proteins that promote clotting (like Factor VIII or IX) while anticoagulants are proteins that prevent clotting (like antithrombin and tissue factor pathway inhibitor (TFPI)).

How could targeting anticoagulants help prevent bleeds?
Hemostasis is the goal of any hemophilia treatment—and treatments can work by targeting procoagulants or anticoagulants.
Innovative treatments called rebalancing therapies are being investigated and may offer a different type of nonfactor treatment in the future.

These rebalancing therapies are designed to increase the amount of thrombin in the body by lowering anticoagulants like antithrombin and TFPI – lowering proteins in the blood that slow down the body’s ability to make clots may help increase thrombin generation and rebalance hemostasis.

How do current hemophilia treatments achieve hemostasis?
Factor replacement therapy is a well-known treatment that works by replacing missing or defective factor VIII or factor IX.

Other treatments include factor mimetic therapy, which mimics the function of factor VIII in the body, and gene therapy, which replaces the missing or faulty gene to create factor VIII or factor IX for hemophilia A or hemophilia B, respectively.

The science behind hemophilia management is continuously advancing. In addition to currently available treatment options, potential new approaches to restoring hemostasis may offer more ways for PwH to achieve balance.

Learn more at MyHemophiliaTruth.com

MAT-US-2407624-v1.0-08/2024

See updated study results for kids with hemophilia A.

admin August 18, 2024

Treatments for hemophilia continue to evolve, making a positive impact on those living with the disease—including children. That’s why we’re excited to discuss the recently released complete data from XTEND-Kids, the pediatric study for ALTUVIIIO® [antihemophilic factor (recombinant), Fc-VWF-XTEN fusion protein-ehtl]. ALTUVIIIO is a once-weekly Factor VIII replacement therapy that provides bleed protection and high sustained factor levels above 40% for ~3 days in kids with hemophilia A.

Before we dive into the benefits and safety of ALTUVIIIO, let’s explore the XTEND-Kids study and how it was set up. This study was a clinical trial that took place over 1 year and enrolled 74 previously treated male children under 12 years of age who switched to ALTUVIIIO.

36 participants were 6 to <12 years old
38 participants were 1 to <6 years old
Efficacy was evaluated in 72 of these children

The primary goal of the XTEND-Kids study was to find out if children would develop inhibitors to ALTUVIIIO—and 0 inhibitors were detected! Keep in mind that, although none were detected, inhibitors are still possible with ALTUVIIIO.

Now that we’ve covered the study, keep reading to learn about higher-for-longer factor activity levels in kids. (You can also learn about the safety and benefits of ALTUVIIIO in adults and adolescents at ALTUVIIIO.com.)

Kids can achieve high sustained factor activity levels for ~3 days.

One of the more exciting findings from the XTEND-Kids study is that, on average, after the first dose of ALTUVIIIO, factor activity levels stayed in the near-normal to normal range (above 40%) for about 3 days. In the chart below, you can see how long factor activity levels lasted in this range for children who were between the ages of 1 to under 6 (the purple line) and 6 to under 12 (the pink line).

Proven bleed protection with ALTUVIIIO prophylaxis.

Bleed protection was measured over 1 year of ALTUVIIIO prophylaxis. Much like results for adults and adolescents, the study showed rates of less than 1 bleed per year.

How were bleeds and joint bleeds measured in the trials?

Median ABR was the middle number of all ABRs, when everyone’s ABRs were ordered from least to greatest
Mean ABR was the average number based on everyone’s ABRs

If a bleed did happen, 95% of bleeding episodes were resolved with just one infusion of ALTUVIIIO.

ALTUVIIIO has an established safety profile, but as with any medication, side effects can occur. In 233 people across multiple studies^†:

15% experienced headache (35 people)
13% experienced joint pain (31 people)
4% experienced fever (10 people)

4% experienced pain in extremities (10 people)
4% experienced back pain (9 people)
3% experienced vomiting (7 people)

In XTEND-1 and XTEND-Kids, people taking ALTUVIIIO had 0 inhibitors OR serious allergic reactions. Although no inhibitors were found, and no serious allergic reactions occurred in clinical studies, inhibitors and serious allergic reactions are possible with ALTUVIIIO.

^†Clinical trials included adults and adolescents (XTEND-1) and children (XTEND-Kids).

Connect with a community that’s waiting for you.

When you’re part of the ALTUVIIIO community, you’re never alone! The ALTUVIIIO community includes Patient Educators (also known as Community Relations and Education [CoRe] Managers), ALTUVIIIO Peers, Peer Mentors, Therapeutic Education Managers (TEMs), and Case Managers—people who are with you every step of the way!

Your local ALTUVIIIO Patient Educator is a dedicated professional who provides personalized education and can point you toward helpful resources and support—connect with a local Patient Educator today!

If you’re interested in talking to a real patient or caregiver about what life is like with ALTUVIIIO, the Peer Mentor Program will connect you with someone who has had similar experiences. Together, you can discuss their treatment journey and get answers to some of your questions.

Hear from Peers below, see more stories, and sign up to have a conversation with an actual Peer Mentor here.

Meet Ashley and Harrison
Real caregiver and patient

Ashley’s house can be a bit hectic. With 3 kids, 2 of them with hemophilia—it’s a lot to juggle between activities like fishing and T-ball, and treatment schedules. Her family’s goal was better bleed protection with fewer infusions. By switching to once-weekly ALTUVIIIO, Ashley was able to send Harrison off to school knowing that he was better protected. Ashley is a promotional speaker compensated by Sanofi.

Meet Natalie and Samuel
Real caregiver and patient

As Samuel grew up, it became clear to Natalie that they needed a treatment that would protect him from bleeds and also allow him to stay busy. That’s why they were so interested when they heard about ALTUVIIIO, its fewer infusions, and how its higher sustained factor levels are associated with lower bleed risk. Now they have a treatment and a schedule that works for them—it allows Samuel to get the most out of being a kid.

Natalie and Samuel are promotional speakers compensated by Sanofi.

To learn about what ALTUVIIIO can do for your child with hemophilia A, connect with a Patient Educator today!

INDICATION
ALTUVIIIO® [antihemophilic factor (recombinant), Fc-VWF-XTEN fusion protein-ehtl] is an injectable medicine that is used to control and reduce the number of bleeding episodes in people with hemophilia A (congenital Factor VIII deficiency).

Your healthcare provider may give you ALTUVIIIO when you have surgery.

IMPORTANT SAFETY INFORMATION

What is the most important information I need to know about ALTUVIIIO?
Do not attempt to give yourself an injection unless you have been taught how by your healthcare provider or hemophilia center. You must carefully follow your healthcare provider’s instructions regarding the dose and schedule for injecting ALTUVIIIO so that your treatment will work best for you.

Who should not use ALTUVIIIO?
You should not use ALTUVIIIO if you have had an allergic reaction to it in the past.

What should I tell my healthcare provider before using ALTUVIIIO?
Tell your healthcare provider if you have had any medical problems, take any medications, including prescription and non-prescription medicines, supplements, or herbal medicines, are breastfeeding, or are pregnant or planning to become pregnant.

What are the possible side effects of ALTUVIIIO?You can have an allergic reaction to ALTUVIIIO. Call your healthcare provider or emergency department right away if you have any of the following symptoms: difficulty breathing, chest tightness, swelling of the face, rash, or hives.

Your body can also make antibodies called “inhibitors” against ALTUVIIIO. This can stop ALTUVIIIO from working properly. Your healthcare provider may give you blood tests to check for inhibitors.

The common side effects of ALTUVIIIO are headache and joint pain.

These are not the only possible side effects of ALTUVIIIO. Tell your healthcare provider about any side effect that bothers you or does not go away.

Please see full Prescribing Information.