Taunton family who lost 13-year-old to rare disorder determined to honor her memory

TAUNTON — The words “not a choice” are tattooed on Maria Santarpia's right forearm in dedication to her daughter Emily.

It’s a statement that used to be said everytime Emily complained about the amount of medication she needed to take every day.

“I would say ‘It’s not a choice,’” Maria said.

Eventually, Emily would beat her to the punch, saying it herself every time, so it became a family saying.

Maria said the tattoo is a reminder to herself that when hardships come, to do what needs to be done.

“When life gets tough, you remember that it’s ‘not a choice,’” Maria said.

Emily Mae Santarpia was 13 ½ when she died in January.

What is the illness Emily had, isodicentric 15?

At only 3 months old, Emily was diagnosed with a rare genetic condition called isodicentric 15 (IDIC(15) or Dup15q), a chromosomal abnormality where one chromosome — in this case, the 15th — has a piece broken off, forming or duplicating a new chromosome.  Basically, Emily was born with 47, not 46, chromosomes.

Carrie Howell, Executive Director for the global corporate nonprofit, Dup15q Alliance, said there are around 2200 diagnosed cases of Dup15q worldwide. IDIC (15) is a type of Dup15q.

Howell said research shows some rare cases where IDIC(15) could have resulted through the passing of extra genetic material by a parent during pregnancy. Mostly, it's a random mutation, with no attributed cause or reason for IDIC(15) to occur.

"There’s absolutely nothing to prevent it or that causes it," said Howell.

“Her abnormality was a fluke that just happened,” said Maria, adding she had a normal pregnancy and childbirth of twins, including Kimberly, Emily’s sister, born 2 minutes apart, on March 18, 2009.

Kimberly was not diagnosed with IDIC(15).

Howell adds that scientists believe the prevalence rate for Dup15q could be 1 out of every 20,000 new births, or as high as 1-5,000, but not enough testing is done to narrow those estimates. She encourages parents to conduct more genetic testing, especially if a child has autism. "Parents should use their gut instinct."

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Learning to manage

Symptoms vary from person-to-person, but IDIC(15) is generally associated with physical developmental issues and learning challenges.

In Emily’s case, she was diagnosed as being on the autism spectrum by age 2.  She also dealt with cognitive, speech and motor function delays. She started physical therapy at 5 months old and also had other therapy, like speech and language therapy.

“Therapy became a way of life. Her whole life was structured around therapy,” Maria said.

For most of her life, IDIC(15) was manageable. Emily could walk and was generally a very physically active kid.

“She was a tomboy,” said John Santarpia, Emily’s father.

She loved attending Edward F. Leddy Preschool and East Taunton Elementary School. Her parents say she loved playing soccer, basketball, and swimming. She even played with a youth soccer league in Fall River for four years.

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Wanting to give back

The Santarpias started Dreams for Emily in 2010. The non-profit organization advocates for IDIC(15), epilepsy management and autism awareness, and it also does fundraising to help children and families dealing with these conditions.

John explained the decision to start Dreams for Emily was based on how fortunate they felt having access to all the medical care and resources they had through Boston’s medical and research facilities and “we wanted to pay that forward to others.”

“We felt blessed that Emily could walk and speak. We knew there were kids that couldn’t and would never. We wanted to give back,” Maria said.

Dreams for Emily has done assorted fundraising events for gathering donations for IDIC(15) and autism research.

Through Dreams for Emily, they have been able to connect with families all over the world dealing with the costs of IDIC(15).  Dubbed Emily’s “siblings,” the group’s efforts for these families have included providing holiday gifts, called "Emily’s holiday blessings," as well as iPads for non-verbal kids, sensory lighting, service dogs and other assistive and educational help.

Dreams for Emily worked to convince the Hannaford’s in Taunton to introduce to the store Caroline’s Cart, a shopping cart specifically meant to carry kids with autism or certain physical disabilities.

Dreams for Emily is also a big advocate for Project Lifesaver, a search and rescue program that gives public safety agencies, families and caregivers the means to track at-risk people with cognitive disorders and conditions, like Alzheimer’s, Down syndrome and autism, who are prone to wandering.

Emily's condition deteriorates

Epileptic seizures are a common symptom of IDIC(15).  Emily’s parents said seizures were a rare occurrence for more than half of her life.

But at age 8, Emily was diagnosed with Lennox-Gastaut Syndrome, which produces varying types of epileptic seizures that don’t respond to medication. With her epilepsy worsening, she became homebound with her individualized education plan at East Taunton Elementary, and eventually Friedman Middle School.

Then while getting routine lab work at Boston Children’s Hospital in March 2019, a terrible bout of epilepsy occurred which resulted in her remaining in the ICU for 10 days and in the hospital for three months. This incident left Emily no longer able to walk and with irreparable lung damage.

At night she needed to be on a ventilator and placed on a monitoring system to alert when a seizure happened.  Either John or Maria would sleep with her in her bedroom every night in the event a seizure took place.

Despite all the hardships, the family said Emily always stayed in high spirits.

“She was always happy. She had a great personality," Maria said.

'She fought so hard': Emily comes home

This past January Emily was taken to Boston Children’s Hospital for respiratory distress. Years of aspiration pneumonia had left her lungs heavily scarred. Maria and John said they were told there if Emily were placed in the ICU, she would probably never leave.

“We knew her life was limited,” said Maria, saying doctors didn’t give Emily a long life expectancy. “We cared more about quality of life, not quantity,” and “we wanted her home with family as much as possible,” and not stuck in the hospital.

After a few days at Boston Children’s, Emily was discharged and brought back home. She would eventually be placed on hospice care at home.

“They told us she had hours to days to live. She fought so hard,” Maria said.

Over the next couple of days the Santarpia family prepared for the inevitable. They invited extended family over to visit Emily. The family’s priest from St. Andrew the Apostle Church in Taunton visited to administer Emily her last rites.

John said even though Emily wasn’t communicative at this point, “She was aware, receptive, she understood.”

On Jan. 30, Emily died in the arms of her parents, with all of her siblings standing by her bed. The official cause was acute respiratory failure attributed to prolonged lung damage.

Remembering Emily

The family is still in mourning and not yet ready to remove any of the medical devices and handicapped tools in their home used for Emily.

“We are honestly still processing her loss. It’s still surreal,” John said.

The family is doing its best to think only about the good memories.

John said one of Emily’s favorite things to watch was "Charlie Brown" and she would recite the lines from "It’s The Great Pumpkin, Charlie Brown" for everyone's amusement.

“She'd say the lines before the character,” John said.

In 2018, when she was still healthy enough, Emily got to experience a week in Orlando, Florida with the whole family as part of the Make a Wish Foundation. They went to Disneyworld, Universal Studios, Epcot Center and Sea World.

“She had so much fun,” John said.

A more recent memory came when the family took Emily to Deep Pond Farm & Stables in Taunton last December.  “She loved farm animals. This was the last fun thing she did,” said John, adding “if she was still alive, we would be there all the time.”

Emily's legacy

The family is continuing the mission of Dreams for Emily.

“She loved the attention she got at events,” John said.

Maria said they are thinking of setting up a memorial scholarship named after Emily, to be used by recipients with IDIC(15), autism or Lennox-Gastaut Syndrome for various therapy programs or medical needs.

When the family is ready, they will restart fundraising efforts.

Said John, “That first time it does happen, it will be therapeutic for us.”

This article originally appeared on The Taunton Daily Gazette: Dreams for Emily honors Taunton teen who died of rare genetic disorder