Extremely rare disorder keeps family with triplets on their toes

NORTH PROVIDENCE, R.I. (WPRI) — The Simones’ home has all the signs of a family that more than doubled with one pregnancy.

Bethany remembers the moment she heard she was carrying triplets.

“Utter shock,” she said.

Then, more shock. Four months into the pregnancy, doctors noticed one of the babies was not growing like the other two.

It got worse. The Simones were told every week that one of their babies would not survive.

Two years later, Aria and Rocco are typical, energized toddlers.

“We hope Ava’s story makes everyone aware of the importance of genetic testing.”

Their sister Ava beat the odds, but is now living with a collection of disorders, including ultra-rare Goltz syndrome, a genetic condition characterized by issues with the skin and skeletal system, and the eyes and face.

Ava is one of about 60 people in the U.S. with the syndrome which pegs the North Providence toddler at one in roughly 5.5 million.

Ava’s mom points out she also has Microphthalmia, Microcephaly, a congenital heart defect and a number of other issues.

“It’s our life,” she said. “And it’s heartbreaking.”

Social media helped the Simones find medication to effectively treat their daughter’s chronic pain when someone from California contacted them through Ava’s Facebook page.

But Bethany said no one knew what to expect from their daughter as she got older.

So, when she crawled for the first time last month, it was like running a marathon.

“It was amazing,” Bethany recalled. “We just so happen to have a light-up ball, and she tossed it and she went after it. It was a little bit like a combat crawl but she’s getting so much better with it.”

Sitting up earlier in October was like a pull-up for Ava, who is not quite 18 pounds.

Again, an unexpected milestone, but there are still plenty of unanswered questions.

“There’s nobody who can tell me if she’ll walk, if she’ll talk or if she’ll eat [without feeding tubes]. Those basics when you have a child, they just come naturally [for most children], and that’s what we fight for.”

This is not about beating adversity. This is about facing it every single day with one child, while caring for the other two.

As the Simones try to make ends meet with regular trips to physicians and specialists from here to Boston, they’re also dealing with the fact that friends and even family members don’t visit as often as they used to, leaving them somewhat isolated.

Ava is permanently disabled and receives 80 hours of nursing care a week through Medicare, but the state system requires re-certification for that type of coverage every three months.

The Simones hope the struggles families with serious genetic disorders face will highlight the need for pre-pregnancy, genetic testing.

“Ideally, we should be testing everyone,” Bethany said. “It would help us know what to expect. We hope Ava’s story makes everyone aware of the importance of genetic testing.”

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