Raising two children with a rare bleeding disorder, hemophilia B: The power of community

September 25, 2024 at 05:01 AM EDT

(BPT) - It was a diagnosis no parent ever wants to hear, and few parents have heard it. Mandy and Ryan Aberegg's world shifted on its axis when their son Cooper, now 13 years old, was diagnosed shortly after birth with severe hemophilia B, a rare disorder that prevents the blood from clotting.

The condition is caused by omission of factor IX, a protein that controls bleeding, from the X chromosome. But at the time, Mandy and Ryan weren't familiar with the medical lingo surrounding the disorder. They only knew it meant their son could suffer from excessive bleeding, perhaps with fatal consequences.

According to the Hemophilia Federation of America, of the 30,000 Americans who have hemophilia, only about 7,000 have hemophilia B. The condition is hereditary but can also be caused by a spontaneous gene mutation. It's also more likely to affect males because it is linked to the X chromosome.

The Abereggs didn't want the diagnosis to hold their son back. "We made it a priority that Cooper could have as normal a life as any other child," Ryan said.

But that would require considerable support. At first, the Abereggs found help from a local bleeding disorders patient group. Then, a friend from that community introduced them to the Coalition for Hemophilia B, an organization focused exclusively on Cooper's disease. That introduction opened up a whole new set of options, along with support and hope.

It wasn't too long ago that therapies for hemophilia B were very limited, but through the Coalition, the Abereggs learned about multiple treatment options, including the factor IX replacement therapy Cooper now undergoes weekly, and likely will continue for the rest of his life.

A double rarity in the family

After Cooper's diagnosis, Mandy and Ryan underwent genetic testing to get to the bottom of how their son ended up with his disorder. What they found surprised them, as it was Mandy who had the gene mutation for mild hemophilia B, which is characterized by factor IX levels between 6% and 49%. Since nobody else in her family has the altered gene, Mandy's mutation is considered spontaneous, which occurs in about 30% of people with the disorder, according to the Coalition.

Despite being a carrier of the gene mutation, Mandy had no symptoms and required no treatment. But she could pass the condition along to her children, and did, with Cooper. Even so, buoyed by the confidence they had built in treating Cooper, Mandy and Ryan decided to expand their family. Their daughter Brooke, now 8 years old, was also born with mild hemophilia B and "bruises like a peach," according to Mandy. But because Brooke was a girl, getting her diagnosed and treated was an uphill battle for the Abereggs. Fortunately, they were well armed.

"Even in this day and age, some doctors don't believe girls have hemophilia, but are just carriers," Mandy explained. "I found a female doctor who works with female hemophilia patients. She is the one who listened to me as a concerned mom and confirmed Brooke has mild hemophilia."

That diagnosis was critical. The Abereggs knew how important it was to have "on-demand" treatment for Brooke, meaning access to timely intervention if Brooke was injured, fell, or had a bleeding episode, which was likely to happen since she is very active and participates in competitive gymnastics. Mandy and Ryan therefore fought hard to obtain that therapy, even when insurance denied their claims. Now, both of their children use the same therapy, but in different ways.

Cooper must be infused prophylactically with his factor IX replacement therapy on a weekly basis, while Brooke receives it on an "on-demand" basis to ensure her body has factor IX for her blood to clot when she has bleeding episodes. The Abereggs now have the treatment on hand, at their house, and have learned how to administer it to both children.

The family now looks forward each year to the Coalition's annual conference, where Cooper can rekindle friendships he has made over the years. That is an especially big deal since Cooper is also on the autism spectrum and has attention-deficit disorder. Bolstered by new connections and teen role models, Cooper has been able to attend a sleepaway camp for kids with bleeding disorders over the last few summers.

Mandy and Ryan are a solid team. As the adage goes, it takes a village to raise children, and this is especially true when those children have a rare bleeding disorder.

To see the family in action, and to hear them discuss their experiences with hemophilia B, visit PatientIXperiences.com.

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Raising two children with a rare bleeding disorder, hemophilia B: The power of community

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