Mystery bruises reveal rare severe hemophilia A diagnosis for Massachusetts toddler

Mystery bruises reveal rare severe hemophilia A diagnosis for Massachusetts toddler

Published: May 30, 2023. Originally published by WCVB 5 Boston

When Axel Robinson arrived in the emergency room, doctors noticed the bruises on his body right away.

“It was a little bit awkward, actually,” said his mother, Kristina Robinson. “They ask you all of those uncomfortable questions, like, ‘Is someone putting their hands on him?'”

A bruise on his knee had spread to his thigh. There also was a second bruise just under his arm.

“They were getting darker and spreading,” she said. “So it seemed like they were not going away.”

Axel was just 10 months old.

“At first, I thought the knee was maybe from crawling, but these you couldn’t explain,” said Robinson, while pointing to a photo showing the bruise under her son’s arm. “And that’s when I knew something was off.”

After a number of tests, Axel’s parents got an answer.

“The official diagnosis was severe hemophilia A,” Robinson said.

It’s a very rare but serious genetic condition that’s most often passed to males through their mothers.

In fact, the Centers for Disease Control estimates only 400 boys are born with hemophilia A each year.

The signature symptom is in their blood. It’s missing a protein called Factor VIII that our bodies need to slow bleeding and form clots.

“And severe means that he is completely missing Factor VIII,” Robinson said. “His body doesn’t produce any of it, so he bruises and bleeds very easily.”

Left untreated, people with hemophilia A are at very high risk for internal bleeding, which means minor injuries can become major emergencies.

For kids like Axel, that means a bump on the head or damage to an organ could be fatal.

“So I felt like I was keeping him in this little bubble,” Robinson said. “I’m like, ‘Don’t let him hit his head! Don’t let him crawl too hard!’ you know? And he was learning to walk. It was not great timing.”

But today, there are treatment options to keep Axel safe — and running around.

Axel receives an injection every two weeks. The medication helps his blood clot.

“Now it’s just part of our day,” she said. “Like you brush your teeth in the morning, he gets his injection in the morning. That’s how we start every other Thursday.”

Together, Axel’s family is now focused on raising money and awareness, especially for women.

Robinson had no idea that she carried the gene and hopes more moms will talk with their doctors.

“Advocate for yourself,” she said. “Tell your doctors, ‘I have very heavy menstrual cycles. I have nosebleeds that seem to be more frequent than normal.’ Maybe there is a bleeding disorder there. Maybe there isn’t. But don’t be afraid to speak up if you have any signs or symptoms so you know what to do in the future should you get pregnant and give birth.”


Read the original publication by clicking here.