It took him years to get a diagnosis. He wants others to avoid the same fate

It took him years to get a diagnosis. He wants others to avoid the same fate 10pm update
Updated: May. 29, 2017 at 7:11 PM HST
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HONOLULU (HawaiiNewsNow) - At first glance, you might never know Ronson Akina suffers from a debilitating illness.

It's called adult polyglucosan body disease, a genetic condition that affects the nervous system.

It's so uncommon doctors know of only 80 cases in the world, and it took years for doctors to diagnose Akina.

The journey to his diagnosis started when he was a toddler.

"When I was about 2 and a half my stomach used to bloat up so my mom ended up taking me to  the hospital," he said. "They didn't expect me to live very long."

The disorder affects the way the body stores sugar.

Despite a grim prognosis, he went on to have a normal childhood and later a family.

He thought he was fine, but in his early 30s his health took a turn for the worst.

"For the longest time I didn't know how to explain what was going on with me. I struggle because my energy gets depleted. I was falling down when I was riding my bike or going for leisurely jogs. I have problems urinating," Akina said.

The unusual combination of symptoms baffled doctors.

Finally, a geneticist determined Akina had developed adult polyglucosan body disease, an illness tied to the disorder he had as a child.

But what makes his case even more unique is that 98 percent of the people diagnosed are Jewish with ancestors from eastern Europe.

"I'm half-Samoan, more than a quarter Hawaiian and a little Chinese," Akina said.

The APBD Research Foundation estimates thousands of people are unknowingly living with the disease.

Because it's so uncommon, it can be misdiagnosed.

"The common answer is most likely ... Lou Gehrig's disease or multiple sclerosis. Very different diseases, but it sort of, kind of fits the symptoms and our patients typically go on some very heavy medicines that are entirely inappropriate," said Harriet Saxe, of the foundation.

Because APBD is progressive, symptoms worsen over time. Currently, there are no treatments and no cure.

But Akina says he's staying optimistic, sharing his story in the hopes of helping others who could have the disease.

"If you're unsatisfied with the diagnosis your doctors are giving you, please go to the APDB research website and request a saliva kit. Because you never know," said Akina.

Saxe added, "Just spit in a little test tube and mail it in. We have a fantastic researcher at Columbia University in New York who is working on the disease and hopefully some treatments and cures."

Send an email to the foundation for more information.

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