- Associated Press - Tuesday, July 22, 2014

TRINITY, Ala. (AP) - A team of 20 doctors, scientists, nurses, specialists and nutritionists surrounded the 3-year-old, dark-eyed, curly-haired girl. They examined her from head to toe - her hair, eyes, ears, chin, fingernails, hands and feet - pointing out every imperfection.

To the medical community at Maryland’s National Institutes of Health, Tyley Sue Jones, the only person in the world known to suffer from a specific chromosomal defect, represents a rare specimen.

To her parents, the friendly little girl who loves to chase bubbles, swing and give hugs represents one of God’s unique creations. Tyler and Ashley Jones call Tyley Sue “perfectly imperfect.”

“Our prayer is that God will glorify himself in her either by healing her or by letting people hear her story and be inspired,” Tyler Jones said.

The journey for the Jones family, of Trinity, began on June 9, 2011, when, six weeks after registering with a Birmingham adoption agency, Tyler and Ashley held their 6-day-old daughter for the first time. They would name her Tyley Sue - a combination of Tyler and Ashley.

They dreamed of the day she would play softball, dance in a recital, attend prom, graduate from high school and walk down the aisle - all of life’s normal events.

In January, Tyler and Ashley Jones’ definition of normal changed. They still dream of their daughter’s future, but the future looks different. They dream of Tyley Sue holding a conversation, dressing and feeding herself and learning to use the bathroom.

“Really, we don’t know what to expect; that’s the hard part,” Ashley Jones said. “The disorder Tyley Sue has is so rare that there isn’t a name for it. We have no clue what life will look like five years, 10 years or 20 years from now.”

Signs of the difficulties to come first appeared at Tyley Sue’s three-month checkup. She reached milestones later than expected, tucked her thumbs into clenched fists and had an abnormal line on her palm. Tyley Sue’s pediatrician sent her to UAB, where a geneticist eliminated the possibility of Down syndrome.

“The doctor told us, ‘If she continues to show signs of delay, come back,’ ” Tyler Jones said.

At each medical appointment, Tyley Sue remained consistently two to three months behind developmentally. It could be autism, doctors suggested; let’s wait and see.

The “wait and see” approach turned into action when, at Tyley Sue’s two-year checkup, doctors noticed no signs of head growth. The Joneses returned to UAB for more tests.

“I was at work when I got the phone call telling me about the abnormal chromosomal depletion. It was one of our hardest days,” Ashley Jones said, recalling the conversation with the doctor.

“What is it called?” Ashley Jones asked.

“It is so rare, there is no name,” the doctor answered.

“What do you know about it?” Ashley Jones asked.

“Nothing,” the doctor said.

A nurse by trade, Ashley Jones scoured the Internet searching for medical journals mentioning the 11 p14.1 chromosomal depletion affecting her daughter. In the world of Google, where people can find out information about almost anything, she found two articles.

“This was definitely not Wikipedia-speak. All I could tell was the articles talked about 11 p. It wasn’t exactly what Tyley Sue had, but it was close, so I reached out to the doctors,” she said.

Dr. Joan Han with the National Institutes of Health in Maryland responded.

In April, the Jones family traveled to Maryland, where Tyley Sue underwent a week of tests and examinations. There, Tyler and Ashley Jones found out if Tyley Sue had been missing both copies of the chromosome she would have never lived. They learned more of their daughter’s seizures, lack of brain growth, low muscle tone, which affects her heart, and brain atrophy, common in patients with Alzheimer’s and cerebral palsy.

As the Joneses prepared to leave, Han asked if they had any questions. Ashley Jones had one - “How in the world do I balance hope and faith for her healing, yet remain realistic about her condition and prognosis at the same time?”

“No one knows what the future holds for Tyley Sue. Dr. Han told us we should expect her to be dependent on us forever.” Ashley Jones said. “Our goal is to progress and not regress, which we are afraid of. She has started tucking her thumbs back in and she will say words and then lose them. Right now she says please, come on, hey and let’s go.”

The Joneses returned from Maryland with a recommended regimen of 20 hours of behavior therapy and three speech, occupational and physical therapy sessions a week.

For Ashley, a nurse at Hospice of North Alabama, and Tyler, who works at General Electric, the cost of the uninsured therapy represents half of their income. They hope to transform a room in their home as a sensory space, so they can mimic the exercises conducted during therapy. In August, Tyley Sue will begin classes at Danville Elementary School, which will provide at least one session of speech therapy a week.

The Joneses’ family and friends scheduled fundraisers to assist with the expenses. On Saturday, a rummage sale hosted by Trinity Baptist raised $7,500 and an online auction brought in $2,600.

In their Trinity home, where crosses and messages of “faith,” ”hope” and “love” fill the walls, Tyler and Ashley Jones watched as Tyley Sue jumped around the room with joy and greeted visitors with hugs.

“The mother of a special needs child described it best,” Tyler Jones said. “It’s like you dream of taking a trip to Italy and study all about the culture. But when the plane lands, they say, ‘Welcome to Holland.’ You didn’t prepare for Holland. It’s not Italy, but you find out Holland is a pretty neat place.”

“We like Holland,” Ashley Jones said. “Holland is fun. It is a place where your daughter will never be embarrassed of you and will never be tired of giving you hugs. There is a lot of love in Holland.”


Information from: The Decatur Daily, https://www.decaturdaily.com/decaturdaily/index.shtml

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