Ambassador Stories
July 24, 2020

These Parents Took a Gamble to Save Their Son’s Hearing From a Rare Disease

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Lara and Ron have had to make tough decisions in the fight against their son’s rare disease, including whether to undergo a potentially risky brain surgery.

At first glance, Raphael is a typical fifth-grade boy who loves running on his track team. But take a closer look, and you’ll find he is a fighter living with a rare disease.

One of the more remarkable things Raphael has done? He underwent brain surgery and was back running a mile only one month later.

His rare disease, neurofibromatosis type 2 (NF2), affects only 1 in 30,000 people and causes tumors that embed in nerves. Most people eventually lose their hearing and/or sight and are high risk for cancer. Although genetic, no one else in Raphael’s family has NF2. In his case, they think his NF2 developed from a spontaneous mutation in one of his chromosomes at conception.

Raphael was diagnosed at age four, after it was discovered he was blind in his left eye due to a tumor. His parents Lara and Ron had their world turned upside down. For Raphael, however, living with NF2, “is all he knows,” according to his mother. In his 11 years of life, Raphael has already had 11 surgeries, countless MRI’s and has been sedated over a hundred times. At the age of five, he underwent six weeks of radiation where he was sedated 30 times to treat a tumor behind his eye threatening his vision.

Without a clear path for treatment, his mother Lara has found navigating the next steps in his medical plan extremely daunting.

“With a rare disease, you’re your kid’s doctor,” she shares. “You’re the advocate. If we had gone ahead and done everything everyone had told us to do … we now know [what they told us] doesn’t actually work. It’s so dangerous with the way these tumors grow around essential nerves.”

Raphael’s most recent surgery on a vestibular schwannoma in his right ear (a tumor that occurs on the nerves for balance and hearing leading to the inner ear) was controversial and came about after months of research. These tumors are the main cause of complete hearing loss for individuals affected by NF2. They usually cannot be removed without hearing loss or facial paralysis, as they are wrapped around the nerve and too risky to operate on.

In Raphael’s case, one of his tumors was surrounded by a fluid pocket that was preventing it from wrapping around his cochlear nerve. This meant there was a potential safe way to save his hearing. Unfortunately, neurosurgeons also told him there was a 40% chance he’d lose his hearing in the process. However, because the cochlear nerve was free from tumor, they could save that and potentially have a cochlear implant inserted if surgery did not go as planned.

“It was the hardest decision we ever had to make, but we decided to take a gamble and go forward with the surgery,” Lara said. It paid off. For now, Raphael’s hearing in his right ear has been saved, but they will soon have to deal with a similar tumor on his left side.

Before the surgery, Lara and her husband Ron consulted eight different doctors. Having specialists all over — from Boston to California to New York and even Paris — they’ve found an essential tool in AllStripes.

AllStripes is a platform where they can store all of Raphael’s medical records in one place, replacing the CDs they were storing in their apartment in New York. Lara believes “it’s a great tool to have everything right there. When we see a new specialist, instead of them asking me a thousand questions, it’s all there — every scan and appointment.”

While Lara says NF2 is all she thinks about, for most, “it’s out of sight, out of mind. Most people don’t come into contact with people with a rare disorder.”

That’s one of the main benefits of AllStripes: it was specifically created to meet the needs of rare disease patients. Rare disease patients are never out of sight or mind, and patients come together on AllStripes to create a pool of knowledge that can help researchers develop new treatments.

Lara and Ron will stop at nothing to push for faster, better drug research for NF2. In addition to contributing his records to AllStripes, they are also fundraising for NF2 BioSolutions and the Children’s Tumor Foundation. They have also participated in three triathlons with friends and family to raise money and awareness for the disease.

In a world where rare diseases are “still underfunded and so misunderstood,” Lara, Ron, and Raphael are doing all they can to change the approach, and win this important race.

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