Life Interrupted

HEMOPHILIA IS A blood disorder that is passed down genetically and is frequently diagnosed at birth. In extremely rare cases, hemophilia can be acquired later in life, with symptoms that sneak up suddenly and that are often difficult to diagnose. This type of hemophilia is known as acquired hemophilia (AH), and it is believed to occur in up to one case per million persons per year. However, given the likelihood of misdiagnosis, that figure could be underestimated. In patients with AH, the body starts producing antibodies that fight its own blood-clotting proteins. AH also is characterized by sudden bleeding in patients without a previous personal or family history of hemophilia. Although many AH patients are older, with the greatest number of incidences occurring between 60 and 80 years of age, the disease can strike young adults and even teens.¹ Just ask Jessica Hayes.

A Difficult Diagnosis

An active and athletic high school senior, Jessica was captain of her basketball team and in the middle of intense practice sessions for the upcoming tournament season when symptoms of AH first appeared. Jessica remembers coming home from practice and noticing an unusual number of bruises peppering her shins. Since her chosen sport involves frequent contact with other players, the bruises were not cause for immediate alarm. But when they persisted, eventually worsening into raised, painful lumps, Jessica’s mother insisted she see a doctor.

“During that first round of doctor visits, they ran blood tests for anemia. When everything came back negative, we were told it was probably just a bad case of muscle fatigue,” recalls Jessica. “At the doctor’s advice, I ignored the symptoms and continued to play basketball. At one point, I got hit in the knee with the ball and developed a lump so huge and painful I asked for a prescription pain medication. That’s when my mom really stepped in as my advocate; after multiple trips to the ER and a still undiagnosed bleed in my thigh, she demanded a consultation with a doctor from Children’s Hospital Orange County (CHOC).”

After seeing a specialist at CHOC, Jessica was admitted into the hospital, eventually meeting with a hematologist and pulmonologist. Following a battery of additional tests, Jessica was finally diagnosed with AH. The diagnosis was just the beginning of a frightening three-week hospital stay and a future prognosis that would put an end to the athletic aspirations of this active and ambitious teen; AH patients are strongly advised to avoid activities that risk injury or trauma to the body.

“After my diagnosis, I was admitted to the cancer wing and I remember being really frightened,” Jessica says. “This disease was so rare and we were trying to learn as much as we could, but the first few days were dreadful — doctors kept trying different medications to see which ones worked best. My vitals had to be checked every four hours, giving me no time to sleep. Plus, I felt like I had literally been yanked right out of my life — basketball and my friends were my life, and within the blink of an eye, everything I loved was gone.”

Almost all known cases of AH are characterized by autoantibodies that either disrupt the functioning of coagulation factor VIII or that clear this clotting factor from the plasma, resulting in unpreventable bleeding. Doctors suspect a bout with strep throat may have been the catalyst that triggered the antibodies in Jessica’s body to go haywire. Her lumpy bruises and accompanying pain were the result of bleeding into the skin and musculature. In her case, testing was done to measure the levels of clotting factors VIII, IX, XI and XII. Test results determined Jessica’s factor VIII levels were below 1 percent at the time of her diagnosis.

Devising a Treatment Plan

Treating AH has a twofold objective, the first being to control the affected bleeding areas, and the second to remove the inhibitor causing the disorder.² Because of the rarity of the disease, patients diagnosed with AH are encouraged to seek care from specialized hemostasis units with experience treating AH. Fortunately for Jessica, her diagnosis at CHOC allowed her to quickly receive the knowledgeable care she needed; CHOC employs pediatric subspecialty faculty skilled in providing comprehensive, multidisciplinary evaluation and treatment for hematologic diseases.

In Jessica’s case, she was put on a twice-daily regimen of NovoSeven, an FDA-approved bypassing agent for the treatment of AH manufactured by Novo Nordisk, in addition to a twicedaily regimen of steroids. She responded well, and she was discharged with a peripherally inserted central catheter (PICC) line in her arm, with instructions to continue her treatment plan at home. Unfortunately, Jessica’s PICC line became infected after only three days of home infusions, sending her back to the hospital. “I was still holding out hope that I would be well in time for softball season,” Jessica recalls. “After that second infection, I knew that would not be an option.”

Jessica’s downtime in the hospital afforded her ample time to peruse college applications and possible scholarship opportunities; as an AH patient, she was now a candidate for several educational grants. Jessica was fortunate. An essay she penned about her experience with AH diagnosis and treatment garnered her two $2,500 academic scholarships. SevenSECURE, a program of Novo Nordisk, awards the Professor Ulla Hedner Scholarship to high school seniors and college or vocational students to help pay for tuition or school expenses. “Being hospitalized allowed me to understand the concept of dedication and commitment in a new sense that most of my peers could not fully grasp,” says Jessica. “It taught me that if you are going to put your time into something, you better give it your all. There is no promise or guarantee that whatever it is you are working on, whether it [is] learning to do something new or getting a college degree, will still be waiting for you tomorrow.”

Optimistic About the Future

Jessica did not fit the typical AH patient profile in many ways. Statistically, AH patients tend to be elderly with other underlying health complications such as heart disease, hypertension or diabetes. Of those patients, 20 percent tend to suffer a relapse of AH between one week to 14 months following immunosuppressive therapy. But of those who relapse, 70 percent achieve another remission following a second round of therapy.¹ To date, the odds have been in Jessica’s favor. Diagnosed two years ago, she is now a business administration major at San Diego State University, where she remains symptom-free, at least for the time being.

“Life is a series of unexpected events that are going to challenge you, your character and your skills, and how you respond to them ultimately determines your success,” says Jessica. “The events I experienced in my life were and still are an uphill battle, but I am determined to not let them alter my potential accomplishments in life.”