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Understanding, Managing Hemophilia Can Help Patients Live Their Best Lives | Healthiest Communities Health News

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Hemophilia is a rare disorder, affecting only about 33,000 people in our country. But for those who have it, and the loved ones who care for them, it’s life-changing.

Caused by a genetic coding error, hemophilia reduces the blood’s ability to clot properly. For anyone diagnosed with the condition – or for a parent with a child who has just been diagnosed – it can be very frightening. Fortunately, while managing hemophilia is a lifelong journey for both patients and caregivers, most people today can go on to live full lives with the right care plan, education and treatment.

In observance of World Hemophilia Day this Sunday, we want to raise awareness about hemophilia, how the treatment landscape has changed and how despite the challenges it creates, people with hemophilia can live healthy lives.

Understanding the Challenges

Most people who have hemophilia are born with it, and are often diagnosed within the first three years of life. Hemophilia involves reduced levels of proteins known as clotting factors. These clotting factors help reduce bleeding after an injury or trauma by helping blood cells clot normally. A lack of clotting factors can lead to prolonged or uncontrolled bleeding, and for those with more severe hemophilia, spontaneous internal bleeding. Some incidents require emergency medical care, particularly bleeding into the brain.

This makes it important for patients – as well as caregivers of young children with hemophilia – to know how to react to signs of bleeding, and how to treat it. Yet there is a relatively small community of physicians who specialize in hemophilia, which can make it challenging for someone to get a timely diagnosis and the specialized care and education that can help them, or their caregivers, manage the condition effectively.

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Hemophilia treatment has evolved greatly over the years. Historically, it was treated with blood infusions, and later, with human-derived plasma. However, neither contained enough clotting factor to prevent bleeds, which meant patients continued to experience a lot of painful episodes, poor quality of life and shortened life expectancy. It also put them at risk for conditions like HIV and hepatitis C until testing for those conditions became widespread.

Today, the most common therapy involves injecting clotting factor concentrates, either human-derived or recombinant, which helps stop a bleed. Factor can be administered prophylactically to prevent bleeding episodes. This has vastly improved both quality of life and life expectancy for patients.

Navigating the Treatment Journey

Even with treatment advances, living with hemophilia – or caring for someone that does – is a lifelong task, and each person’s health care journey is unique.

Our CVS Specialty pharmacy serves 1.4 million patients who take specialty medications, which often require special handling and come with complex care plans. Many people who take them have challenging conditions, like hemophilia, and our teams of specialists and clinicians provide an additional layer of patient support.

One such team is our hemophilia field team, which includes patient advocates and nurse educators who provide education and one-on-one patient visits. They also lead continuing education opportunities for health care professionals and educate social workers, school systems and nursing agencies on how best to work with patients living with hemophilia and other bleeding disorders.

Education and networking matter, because effectively managing hemophilia can make the difference between painful bleeding episodes with worsening, potentially permanent symptoms – and potential joint and internal organ damage – and being healthy and having a great quality of life. And there are often things that patients or their caregivers do not realize could make a difference in how their condition is managed.

For instance, one teenage patient supported by the CVS Specialty team, Max Goldman, was diagnosed with severe hemophilia in utero. His mother, Suzanne, knew she carried the gene and got tested. Max’s father, Ken, learned how to infuse Max when he was a toddler, and Max learned to self-infuse at the age of 7 while attending a summer camp for children with bleeding disorders. The whole family has been very engaged in his care.

After attending a national bleeding disorders conference, Suzanne had questions about microbleeds: small episodes that can go unnoticed at the time but can have long-term consequences. An educational session with a CVS Specialty nurse educator provided deeper answers and helped the family understand how to protect Max’s joints for the long term. The CVS Specialty team provides the family ongoing support – from answering questions to teaching him to administer his own infusions without his parents or care team present.

Such interactions can make all the difference. Suzanne’s brother, who also has severe hemophilia, suffered from debilitating bleeding episodes as a child, which led to joint damage and ER visits. Compare that to Max’s experience with prophylactic treatment. Max recently did a two-week backpacking trip with guidance from the field team, who met with the family to help Max understand how best to prepare for the trip, including ways to transport his medication, deal with nosebleeds and monitor his overall health. Suzanne continually encourages Max to advocate for the hemophilia community.

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The Importance of Education

Equally important, we think, is for everyone else to understand hemophilia and the experience of those living with it. With the advancements in treatment over the past 40 years, individuals with bleeding disorders can live normal, adventurous lives as long as they adhere to their prescribed treatment. Many of them have learned to speak up for themselves and to be advocates for the community. Many, like Max, manage their treatment very well, enabling them to engage in activities that would once have been considered unthinkable – from whitewater rafting to sports, from performing arts to backpacking.

Thanks to a strong and supportive community of their peers, dedicated medical centers and a wealth of educational opportunities, patients are armed with the knowledge and resources to advocate for themselves, and to live the lives they choose.

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