WFH NETWORK

The face of inhibitors: Patients, families and caregivers share their stories

Inhibitors affect between 20 and 40 percent of people with severe hemophilia A. During the WFH 2016 World Congress, patients, families, and caregivers impacted by this rare condition participated in a panel discussion that put a face on their trials and triumphs.

Kari Atkinson, with her 13-year-old son Beau by her side, gave a moving presentation on what life has been like for her, Beau, her husband Craig, and their daughter Jordan since Beau was diagnosed with hemophilia and an inhibitor.

When Beau was only 6 months old, he was diagnosed with severe hemophilia A. Kari and Craig were shocked because there was no known history of hemophilia in their family.

However, they had no idea things were about to get worse.

When Beau had a routine blood test at 18 months old, the doctors discovered an inhibitor. “That inhibitor detection literally rocked our world,” Kari said. “It is so different from normal hemophilia. We prayed every night that we could just have normal hemophilia.”

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Beau’s inhibitor affects the whole family, Kari explained. “For anyone in this room, you know the number of tears and sleepless nights.” The inhibitor initially had a low titer, and the first treatment proved effective for four years. When it was no longer effective, the next treatment could only be used for a year. Since 2012, Beau, his family, and his caregivers have been struggling with managing his inhibitor trying different factor treatments and twice inserting ports.

“The cost of care went from $250,000 annually with hemophilia to $1 million to $1.5 million per year with the inhibitor, depending on the number of bleeds,” Kari said.

Managing Beau’s hemophilia and inhibitor is a true family commitment, Kari stated. “We have to be on high alert at all times. [When a bleed occurs], minutes is our reality between walking, crutches, and a wheelchair. It doesn’t matter if we’re in the car, at the amusement park—we infuse.”

At school, Beau stands at the back of the line so he won’t be jostled. He can’t participate in recess activities. But his friends are very supportive. “Other inhibitor patients are like a family beyond a family beyond a family,” Kari said.

“It takes a village to raise a child with hemophilia and an even larger village to raise a child with an inhibitor.”

But there are plenty of positives, Kari said, as Beau smiled beside her. Beau currently receives immune tolerance induction treatment every other day with an extended half-life factor. His inhibitor levels initially spiked, but now they are steady.

Zoe McGough, a 16-year-old girl from Mirfield, U.K., spoke about her factor VII deficiency with an inhibitor. After a childhood characterized by bruising easily but blood tests returning normal results, she was eventually diagnosed at age 7. “The doctors said I would only need treatment if I had a serious accident,” she said. “But the reality was quite different.”

She had multiple bleeds and began factor VII replacement therapy, but developed allergies and more bruising. A couple of months later, she was diagnosed with an inhibitor. She began immune tolerance induction with factor twice a day, but that led to a needle intolerance, so a port had to be inserted.

To make matters worse, Zoe would wake up in the mornings with terrible bruising. She was eventually diagnosed with a type of fasciitis that causes the tissue under the skin to become inflamed.

“At one point I asked my mum, ‘How can people get new arms and legs but they can’t figure out what is wrong with me?’” Zoe recalled. “I just wanted to enjoy myself and play with my friends, and I couldn’t.”

At age 10, a dose of steroids combined with rituximab knocked Zoe’s inhibitor to the lowest level it had ever been. And it helped prevent bleeds. Six years later, her inhibitor is still in check, allowing Zoe to live a relatively normal life—despite living with a bleeding disorder.

“Even though I have these issues, I haven’t let them hold me back,” she said. “I do most of the things teenagers do. I go dancing three times a week. I’ve traveled around the world many times—all we do is bring an extra suitcase for my medication and I am fine.”

“I’ve learned that as long as I have my factor, I can do what I like. I have even swum withdolphins,” she said proudly.

Augustus Nedzinkas, a 29-year-old Lithuanian, was diagnosed with hemophilia A with an inhibitor when he was 14 months old. Hemophilia treatment was rudimentary in Lithuania at the time, and “Sometimes the bleeding wouldn’t stop until the joint had expanded to the max,” he said.

Nevertheless, he was still able to attend public school, graduate from university, get a full-time job and even scuba dive.

Augustus had low inhibitor levels for several years, so in 2012, his doctors decided to try a high-dose immune tolerance treatment of 100 IU/kg twice daily. This type of treatment had never been used before in Lithuania, but it was a success. Augustus’ inhibitor dropped below zero in the first month.

“Then they prescribed daily prophylaxis and that made my life very happy,” he said. “The first thing I did was go spear fishing and get my trophy fish. I changed my car’s gear box from an automatic to a manual. And I got married.” He has a knee replacement scheduled for next year. “Now I can plan things and expect my health won’t be an issue—all I have to do is infuse myself every morning,” he said.

Kuixing Li, a nurse at Peking Union Medical College Hospital in China, talked about inhibitors from a caregivers’ standpoint.

One of her patients was a 9-year-old boy with an inhibitor. “He was in a wheelchair, and he often lost his temper and was always angry,” Kuixing said. “Sometimes he wanted to give up his treatment.” His family couldn’t afford factor and had to use prothrombin complex concentrates (PCC) instead.

The boy eventually left the hospital after suffering a brain bleed. One day, Kuixing called his grandmother to see how he was doing. “This is not a good story,” she said, her voice breaking. “I found out he died—they could not stop his bleeding.”

This is not an unusual occurrence in China, which is home to an estimated 100,000 to 150,000 people with hemophilia. “Sometimes I think if the WFH wants to establish their goal of Treatment for All, they should move their office to China,” Kuixing said with a laugh.

In 2015, there were only 31 hemophilia treatment centres throughout China—but that’s a notable increase from the six centres in 2007. There are also only about 20,000 patients in the national registry.

After a national program from 2008 to 2011 to screen people with hemophilia for inhibitors, Kuixing said the Chinese developed an inhibitor management plan that includes PCC infusion after bleeding and low-dose prophylaxis. It works for about 50 percent of patients, she said. Meanwhile, Chinese chat rooms are full of inhibitor patients who can’t afford factor treatment, so they opt for dangerously high doses of PCC.

“It’s a big challenge for caregivers to give good care for hemophilia patients in China,” Kuixing said.

Note: this article was updated by the WFH on September 6, 2016.