Mom of child with rare disorder helping similar families get answers

August 12, 2019 06:54 PM

Almost from the day Emily Shufelt was born 18 years ago, her parents knew something was wrong. It would take 14 years to get a diagnosis.

It's a lonely, frustrating and frightening road families travel when their child has a disorder doctors can't diagnose. The Shufelt family in Watervliet knows it well. Now they want to help other families.


Their story starts with their third child, Emily.

"So, she didn't make a lot of her milestones early on – couldn't lift her head, couldn't sit up," said her mom, Tina Shufelt.

Watching 18-year-old Emily stroll with her new service dog, Teddy, is a joy for her mom.

Along with all the missed physical milestones, there were questions about Emily's intelligence - and a procession of doctors making diagnoses that were simply wrong.

"They, at that point pretty much just said, ‘Well, she has CP. It's an umbrella," said Tina.

Genetic testing didn't help because it was so specific - and her disease so rare - until four years ago when a doctor in New York City went a few steps further and finally there was an answer.

"She has this very rare genetic disorder. It's called GNAO1 and it just came into the medical world in 2013 and there are only 48 other patients in the world that have this," said Tina.

There is no cure, but the early intervention the Shufelts fought for helped and with the diagnosis, they applied for a third time to the Undiagnosed Hospital Network and were accepted. It connected them with doctors and researchers at Massachusetts General who confirmed the diagnosis and began looking ahead. By then, Emily was 14.

"Now we can pursue some medications. She's on a medication that they typically use for Parkinson's patients," said Tina.

One-hundred people have now been diagnosed with GNAO1. Emily is unique in that she's not losing any function. This summer, she learned to kayak, paddle board, ride a bike - all things she can do with her parents and two older sisters. She got her learner's permit - although driving is still far in the future.

"Don't ever underestimate your children," said Tina.

With tomorrow a little more clear for Emily, Tina wants to help other families lift the shroud of uncertainty if they have a child with a rare disorder.

"Just keep pursuing, reaching out. There's always a doctor out there that'll listen, there's always someone, or a family who will listen who can help you continue your search," said Tina.

In September, Emily will be a senior at Shaker High School and also start a special program at Siena College. Her support dog Teddy will be by her side.


Benita Zahn

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