Tag Archives: Rett Syndrome

Little Neck Nursing Home to hold charity drive for rare neurological disorder


| ejankiewicz@queenscourier.com

Photo courtesy of Thomas Oelkers

The Little Neck Nursing Home may be a place for elderly care, but in October it will be holding a charity drive for an 8-year-old girl with a little-known, poorly understood neurological disorder called Rett syndrome.

Queens-born Camryn Oelkers developed the disease around the age of 1 and her family has since battled with a neurological disorder that has rendered the red-haired girl unable to speak.

“We first started to notice something wrong around 15 months,” said Camryn’s father Thomas Oeklers. “She fell a lot, didn’t speak a lot or play with the other kids.”

Oeklers didn’t know of the disease’s existence before his daughter was diagnosed with it and he said, “Doctors were a little dumbfounded. No one knew anything for a while.”

Rett syndrome is mostly found in girls because it is a mutation of the X-chromosome and boys who get it tend to die before they’re even born, according to the little that researchers understand. With two X-chromosomes, girls don’t die. Most people with Rett syndrome have shrunken heads and suffer from severe seizures, but Camryn is lucky enough to not have either of these symptoms. And she is happy, according to Thomas.

“We’re very lucky with how responsive she is [to physical therapy],” he said, explaining that she is able to walk with only minor assistance from people.

The Little Neck Nursing Home employs Camryn’s great-grandmother, Agnus DeBoesche. Having worked there for almost 40 years, she’s grown close with the staff. Since October is Rett Syndrome Awareness Month, the nursing home administrators decided to hold a charity drive to give money to the Rett Syndrome Research Trust.

The charity drive will be held in early October and the nursing home will have a lemonade stand to raise money, according to the home’s administrators. The idea for a lemonade stand came from the International Rett Syndrome Foundation and the home plans on bringing Camryn in to serve the refreshments.

“I don’t like to talk about my problems a lot, but they wanted to do something in honor of me,” DeBoesche, 85, said. “There’s such a caring thing going on here.”

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You can help Valentina


| tcimino@queenscourier.com

Valentina

When Valentina Priolo, now four, was only three months old, she began having seizures.

Her mom, Raquel, who had suffered complications when giving birth to Valentina and her fraternal twin Isabella, became concerned and immediately sought help for her little girl.

“They called it immature neurological development,” Raquel told The Courier.

At six months, as the seizures continued, Valentina was diagnosed with epilepsy and low muscle tone. She was put on medications.

“She didn’t hit any of her milestones,” said Raquel, who lives with her family in Belle Harbor. “She couldn’t sit up, she was rolling her head. She never slept.”

A sleep disorder clinic said that Valentina had sleep apnea and cerebral palsy.

It was on July 30 of last year – Raquel’s birthday – that the family got the news: Valentina has Rett Syndrome.

According to the International Rett Syndrome Foundation, the disease is “a unique developmental disorder that is first recognized in infancy and seen almost always in girls . . . It has been most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay. Rett Syndrome causes problems in brain function that are responsible for cognitive, sensory, emotional, motor and autonomic function. These can include learning, speech, sensory sensations, mood, movement, breathing, cardiac function, and even chewing, swallowing, and digestion.”

Raquel, who said there are only 2,000 children with Rett in the New York area and that it is “very misdiagnosed,” was devastated, especially, she said, since the doctor made the diagnosis without the results of blood tests, which later confirmed.

“The doctor said she’s going to lose all abilities, all motor function,” she said. “When I was pregnant we were talking ballet, now we were talking helmets and feeding tubes.

“I was depressed for a long time,” continued Raquel, who said that Valentina can speak and walk with orthotics, though she does fall a lot. “We googled it to death and found the only doctor in the area to deal with Rett Syndrome. She is an amazing woman who gave us hope.”

And that has translated into a cause.

“I now have hope that I can give my daughter everything and she will have a full life,” said Raquel. “I feel that way because I have met other moms with Rett angels who fight for the cure. Through fundraising and support from friends and family all over the world, we, along with hundreds of other families, have made a difference in raising awareness.”

In her efforts, Raquel was told of Joe Mure, who is extremely involved with the Juvenile Diabetes Research Foundation and hosts numerous events a year to support that cause.

“We went to Joe looking for a simple donation but came out with a fundraiser,” remarked Raquel, who was touched by his willingness to help.

“She is a beautiful little girl,” said Mure, who will be hosting a “Halloween Spooktacular” fundraiser at his home, 144-03 Neponsit Avenue in Neponsit Beach, on Sunday October 23 from 5 to 7 p.m.

“We want to create awareness for the disease,” said Mure. “I just couldn’t sit idly by.”

The event, he said, will feature food, candy, music, entertainment, rides, even the original Adam West Batmobile.

Proceeds will go to Montefiore and the Rett Syndrome Research Foundation (RSRT).

“Be aware that 97 percent of every dollar raised for RSRT will be invested in the best possible science and data gathered from Rett research and will have ramifications for a broad spectrum of disorders including autism, schizophrenia and cancer,” said Raquel.

And Mure said that there will be a donation box outside his home through Halloween.

“When we hear researchers say they believe treatments and or a cure will be discovered within the next 10 years, we believe them,” said Raquel.