School Fuels Change for Young Boy’s Rare Disease

Ryan Stearn

If you ever need extra bus fare or someone to spot you for a vending machine snack, 7-year-old Ryan Stearn can help.

The first-grader always carries excess change in his pockets, but he’s putting the extra coins to better use, alongside his classmates and new Bala Cynwyd community.

“He loves to carry change in his pocket,” said Elizabeth Stearn, Ryan’s mother. If not coins, the pockets are usually filled with mini Play-Doh containers. “Every day he goes to school with his pockets filled with something. It’s a sensory thing, and a sense of comfort.”

(His teacher also keeps a special stash of Play-Doh in the classroom for him.)

Ryan was born a non-typically developing child. “We didn’t know it from the start,” Stearn said, “because he was a great healthy weight when he came home with us.”

But throughout his first year of life, his parents consistently brought him to the pediatrician because “something’s not right.” He wasn’t hitting milestones like sitting up, crawling or babbling.

At 13 months, they started early interventions like speech, feeding, physical and occupational therapy.

As he continued to grow, those skills kept developing.

When Ryan was 2, they took him to a geneticist, but nothing was found, so they circled back to the original diagnosis of low muscle tone.

“People constantly would tell us he would age out of it,” Stearn said. “So we were just kind of waiting for that to happen.”

Once enrolled in school, Ryan struggled.

But in August 2016, he was old enough to receive a neuropsych evaluation at Columbia University, where he was diagnosed with ADHD and intellectual disability.

“He had this diagnosis but we didn’t know why,” explained Jonathan Stearn, Ryan’s father. Scientists performed another genetic study back in 2012, searching for anomalies that could cause the intellectual disability, but upon another look in 2016 with sharper technologies, geneticists confirmed a gene mutation.

“The next thing [the geneticist] did was say, ‘Are there any other children with the same mutation?’ And it turned out there were,” he reiterated. Timing was beshert; a paper was just released in April 2017 on the subject. “It was pure luck that the timing worked out.”

Ryan is one of 14 other children worldwide with the rare mutation of the gene PPM1D. The mutation is only causing Ryan to get half of a particular protein that the gene typically produces.

The family moved to Philadelphia in September last year from New Rochelle, N.Y., in Westchester County.

Elizabeth Stearn grew up in Wilmington, Del., and they wanted to be closer to other relatives.

A team of researchers at Montefiore Medical Center at Albert Einstein College of Medicine in New York started studying the mutation, and the goal is to pull stem cells from Ryan’s genetic material and use that on lab mice to see if geneticists can reproduce the gene mutation.

Ideally, finding the cause of the mutation will enable researchers to develop therapies to “counteract the symptoms of the intellectual disability,” Jonathan Stearn said.

“The situation is not irreversible,” he continued of Ryan’s intellectual disability. “Just because somebody is in a particular circumstance and they’re operating at a lower capacity, under the right circumstances, the brain can recover. What was really encouraging to us was the researcher saying this doesn’t have to be permanent.”

Of course, actualizing a gene therapy is at an unknown amount of years down the road, but the timing is ideal for Ryan. Other kids with similar mutations are now well into their 20s — and have shown progress.

But finally putting a name to Ryan’s gene mutation was a sense of relief for his parents, and they’re looking forward to future developments.

With the search for change, they turned to Ryan’s favorite thing: change.

The stem cell study will cost $200,000, so the Main Line Reform Temple family, is reaching out to the community for help.

They got students and teachers involved at Cynwyd Elementary School — where Ryan is a first-grader in a mainstream class with learning support, and his older brother Andrew is in fifth grade — by hosting a grade-by-grade contest to see who could raise the most in coins.

For a week, kids were encouraged to put any loose change in water cooler jugs in the school’s atrium, marked by each grade.

The kids embraced the fundraiser — it also helped that the grade that raised the most would win an extra recess.

Kindergarten and first grade won the race, Ryan gleamed with pride while playing with a Pokemon puzzle, and overall, the coin contest totaled $3,500. Some kids added $1, $10 or $20 bills to the mix, which explained the bandages between Elizabeth Stearn’s fingers while she was sorting the hefty jugs of coins. “Totally worth it,” she laughed.

Andrew, 11, was a big part of the school campaign, called Ryan’s Race for Change.

“He watches out for [Ryan],” she said. Teachers said the warmth between the two is palpable; “they see each other in the hall and embrace, as if they haven’t seen in each other in months.”

“He doesn’t look at Ryan as having a disability,” she added.

From the school fundraiser and private donations through their website,, which are tax deductible, they’ve reached $22,000 since starting at the end of February.

After the stem cell study, data from Ryan’s case can go on to the National Institutes of Health to further examine common occurrences — like other neurodevelopmental disorders like autism or schizophrenia — and ask for more funding in the hopes for gene therapy.

Similar water cooler fundraisers at Cynwyd Elementary have never raised as much as Ryan’s did.

“The outpouring of generosity from a community where we’ve just come,” Elizabeth Stearn said, “was totally amazing.” 

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