Family Discovers 5-Year-Old Son Has Rare Disease After Watching Girl's Video (Video)

| by Lisa Fogarty
article imagearticle image

The parents of a 5-year-old boy from Spring, Texas, say they felt something was wrong with their son's health, but didn't know what — until they viewed a video (shown below) called "Saving Eliza," which made them realize their child was suffering from a rare disease called Type A Sanfilippo. 

Valerie Tharp Byers says doctors originally told her that her son Will was on the autism spectrum, but she believed something else was causing his developmental delays, reports ABC News. She was at a loss over the root cause of the breakdown in Will's health — until she came across the video, which details the struggle of a girl named Eliza, who was diagnosed with Type A Sanfilippo, a metabolic disorder that prevents the body from breaking down certain sugar molecules.

"As I read [the article] and watched the video, I saw Will," Tharp Byers told ABC News. "Honestly I saw that and immediately started sobbing. It takes your breath away. You don't want to get out of bed in the morning." 

Tharp Byers had Will tested for Sanfilippo and doctors were able to confirm that the then-4-year-old child suffered from the disease, which causes a build-up of heparin sulfate in the body, affecting a person's ability to sleep, speak and function. There is no cure for the terminal disease.

There are four types of Sanfilippo syndrome and Type A is the most severe, reports the National Institutes of Health. Symptoms of the disease include sleep difficulties, problems walking, behavioral issues, diarrhea, full lips, stiff joints, course facial features, and heavy eyebrows that meet in the middle of the face above the nose.

Will has Sanfilippo Type B, according to Tharp Byers. This type of the disease affects only 1 out of every 200,000 births, ABC News reports.

For now, Tharp Byers and her family are working with Eliza O'Neill's family, who started the Cure Sanfilippo Foundation, to raise money for medical research and a cure.

"A lot of research is on the cusp," Eliza's father, Glenn O'Neill, told ABC News. "Our ultimate goal is to get newborn screening and have funding to find a cure [or treatment]."

As for Eliza, the 5-year-old has started to lose speech, according to her family members, who have isolated themselves for 390 days in order to protect the little girl from contracting a virus that would prevent her from taking part in an upcoming gene therapy trial. 

Sources: ABC News, National Institutes of Health

Photo Credit: YouTube, WILLpowerMPS/Facebook