October 30, 2014

Medina
Mostly cloudy
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Westfield Twp. girl takes part in clinical trial for rare disease

WESTFIELD TWP — Emma was beyond excited for her first father-daughter dance with her dad at Cloverleaf Elementary School last month. She wore a flowered dress, black dress shoes and a smile.

When Emma, 8, and her dad, Donald Young, both of Westfield Township, walked into the gymnasium, Emma appeared to be the most popular girl at the dance, her dad said.

Nicole Young, of Westfield Township, holds her stepdaughter, Emma Young, 8, who has Angelman syndrome. Emma was one of 24 children with AS to be selected last week to participate in a clinical trial in Florida to treat the syndrome. (GAZETTE PHOTO BY MICHELLE SPREHE)

Dozens of friends and teachers approached her and exclaimed how happy they were to see her at the dance.

Emma didn’t say a word, but her wide grin and squeals of glee made it obvious that she was happy to be there, too.

Emma Young doesn’t need words to be a social butterfly.

Diagnosed with Angelman syndrome, a rare genetic disease, Emma is nonverbal, has epilepsy, celiac disease and acid reflux disease, and she must be supervised constantly.

But with developing research to find a cure for Angelman syndrome, Emma’s seizures could stop and she may be able to be more independent and on fewer medications.

Being one of 24 children worldwide chosen March 22 to participate in a clinical trial doesn’t hurt her chances of improvement, either.

The syndrome

Angelman syndrome is a neurological disorder that results in developmental delays, problems with motor skills, balance problems and epilepsy, according to the Foundation for Angelman Syndrome Therapeutics, an organization that raises money for AS research.

Symptoms of AS include limb movement or “flapping,” easy excitability and frequent smiling or giggling.

“She’s so happy all the time — rarely do you see a tear in this child,” said her grandmother, Donna Young, of Wadsworth. “The only time she will squeal is when she’s excited. If you’ve got to be given a syndrome, why not be given this one?”

Emma was diagnosed with the syndrome when she was four, but was previously thought to have mild cerebral palsy, Donna said.

With cerebral palsy, Donald thought Emma would be in a wheelchair all her life.

Emma is about mentally equivalent to a 2-year-old, stepmother Nicole Young said.

Nicole first met Emma when she was 4. Emma, and her sister Victoria, 10, are from a previous marriage of Donald’s, but he and Nicole have full custody of them. Nicole and Donald later had Savannah, 5, and Jayden, 19 months.

“When I first met her, she was just starting to be independent,” Nicole said. “She was just a flower waiting to blossom. She’s a smart cookie.”

Emma can communicate with some sign language and gestures, but with the help of an iPad application for special needs children, Emma can point to pictures of things to signal what she wants, Nicole said.

The trial

Families from all over the world applied to be selected for the Angelman syndrome clinical trial in Tampa, Fla., but only 24 were chosen, Donna said.

During the trial, patients will be administered minocycline, a drug typically used as an antibiotic, according to a press release from FAST, the support organization that raises money for Angelman syndrome research.

When the drug was given to a mouse that had Angelman syndrome, it showed signs of motor skill, learning and memory improvement, according to the National Institutes of Health’s website for the clinical trial.

The trial entails three separate two-day visits to Tampa for tests and drug administration and monitoring. The trial period will last 16 weeks for each patient, but the complete trial is not expected to be finished until November, according to the NIH clinical trial website.

The patients, or “angels” as they are called in the Angelman syndrome community, must meet several criteria to be selected for the trial, including being between 4 and 12 years old. When Donald, Nicole and Donna found out Emma was selected to participate in the trial, they were shocked and ecstatic.

“I can’t even tell you how thrilled and excited we are about this clinical trial,” Nicole said.

Nicole and Donald are waiting for a start date, but they expect to travel to Tampa sometime in May.

Recently Emma began to say “ma” and “da,” — words that brought tears to her parents’ eyes.

“My one goal in life is to sit down and have a chat with my granddaughter,” Donna said. “That’s the only thing on my bucket list. For this child to sit and have a chat with her ‘Nana.’ ”

Expenses

With several hospital stays, ambulance rides and tests, the expenses forced the Youngs to file for bankruptcy in November, Donald said.

“Whenever she’s sick or something’s not right with her, you have to take her to the hospital because she can’t tell you what’s wrong with her,” he said.

Donald, a parts manager at South of the Square Collision in Medina, is the sole source of income for the family, as Nicole quit her job to take care of the four children and be available for Emma.

As excited as the family is for the trial, it also comes with a price.

Each of the 24 families selected for the trial must fund their own trips to Tampa to participate.

“This trip, which is going to do nothing but benefit her in the end, is financially going to be a burden,” Donald said. “I’m figuring we’re probably looking at $2,000 to maybe $3,000 every time we go down there.”

The community is helping to raise money to help the 24 families travel to Florida, Nicole said.

But the Youngs also have organized a family fundraiser to help them take Emma to Tampa.

Half of the profits from every pizza sold 2 to 7 p.m. April 7 at Pizzazio’s Pizza, 4934 Park Ave., Seville, will go to the Emma
Fund.

To donate directly to Emma’s family, visit www.gofundme.com/i5v8g. To make a donation to be split between the 24 families selected for the trial, visit www.firstgiving.com and search for “Lend a helping wing.”

Contact Michelle Sprehe at (330) 721-4048 or msprehe@medina-gazette.com.