Oxford boy with two rare syndromes inspires others
12/11/2014 11:30AM ● Published by Steven Hoffman
It was Christmas Eve three years ago when Tom and Jen Ankney welcomed their son, Aston, into this world.
From the very start of his life, Aston was a miracle. What baby isn't? But Aston is special—just ask anyone who has seen his smile or watched him courageously battle with two rare syndromes, Prader-Willi and NF1. In just a few short years, Aston has been faced with more challenges than some people encounter in a lifetime.
The diagnosis of Prader-Willi came early in Aston's life. His father explained that Aston's arrival into this world on Christmas Eve of 2011 was six weeks earlier than expected. Doctors thought it was best that he be delivered early by C-section after his heart rate dropped several times and his fetal movement was limited. Despite these challenges, the newborn baby entered the world with an ardent spirit.
Aston did not move his right arm very much during the first weeks of his life, so tests were ordered in an attempt to diagnose a cause.
"They suspected Prader-Willi Syndrome right away," Tom explained.
He and his wife did research on the little-known ailment that affects one in 15,000 to 25,000 births. Prader-Willi Syndrome is a complex affliction that impacts appetite, growth, metabolism, cognitive function, and behavior. Some of the main characteristics of the syndrome start to reveal themselves between the ages of three and five. One characteristic of children afflicted with Prader-Willi is an insatiable appetite that cannot be controlled. This is attributed to the dysfunction of the hypothalamus region in the brain. The metabolic system also malfunctions, so patients see rapid weight gain on few calories. A closely monitored diet must be maintained, and calories must be restricted. Ironically, children who will later have an appetite that can't be satisfied will frequently show no interest in eating as a baby. They may have difficulty sucking, breathing, and swallowing. This is known as the "failure to thrive" stage.
Later on, however, the insatiable appetite and rapid weight gain poses serious health risks. Children as young as three have died of weight-related problems. Children can suffer from sudden eating binges or perforations in the lining in the stomach.
To prevent this, Prader-Willi sufferers will need strict external controls to limit access to food. Some parents need to padlock their food cupboards and refrigerator.
The syndrome affects both males and females and all ethnic groups. There are currently no cures or medical procedures that have proven to be effective in stopping the relentless hunger that children with Prader-Willi Syndrome experience. However, Tom said that the early diagnosis will certainly help Aston as he continues to develop.
Tom said that while his son has been a little slow in reaching certain milestones, he is making progress. Aston may not communicate as effectively verbally as other children his age, but he does know some words. He crawls, and he's even starting to be able to put some weight on his feet.
The boy is benefiting from growth hormone that could be effective in increasing height, improving body mass and metabolism, and boosting strength and energy.
In February of this year, Aston was diagnosed with NF1 (Neurofibromatosis type 1), a tumor disorder of the nervous system. This is a very broad syndrome and it remains to be seen what long-term impact it might have on Aston's life. It has certainly slowed him from reaching certain childhood milestones.
Both of Aston's conditions are statistically rare. It defies the odds for one child to have both.
"I only know of two other children in the U.S. who have both," Tom explained. "There may be others that I don't know about, but it's definitely rare to have both."
As a result of the two ailments, Aston suffers from severe scoliosis. He is currently in a body cast to help correct this issue.
"He will remain in the body cast until he's five years old," Tom said, explaining that after that Aston might be eligible to undergo a spinal rodding technique, which is relatively new, that could help correct some of the spinal issues. As Aston grows, he could go for out-patient sessions where magnets are used to lengthen the rod. This is a much less invasive treatment that would improve his overall condition and reduce the amount of time he would have to spend under a doctor's care.
"We're really looking to improve his quality of life," Tom explained.
To that end, Aston receives treatment for scoliosis at Shriners Hospital for Children, he visits a clinic at the Children's Hospital of Philadelphia for treatment of NF1, and once a year he travels with his father to the University of Florida for growth hormone treatments.
To help with his development, Aston will work with an early-childhood intervention team, and will receive several therapies, including speech therapy and occupational therapy, in a school. He will also be under the direction of a designated dietitian who will oversee the food that he eats.
"He has to eat a very specific, all-organic diet," his father explained.
The ultimate goal for the family, Tom said, is to raise Aston in such a way that he will one day have the opportunity to live an independent life. A key to this is treating the boy as normally as possible.
"We are fortunate because of the early diagnosis, along with a handful of specialists, daily therapies, and a strong support system consisting of friends and family," Tom explained. "The biggest factor in our success has been the growth hormone therapy, a daily injection that he will need for the rest of his life. Although we are not experiencing the food-seeking issues at this time, we know that the road ahead will be challenging for him as the second phase of this syndrome emerges. We're very hopeful, with the cognitive skills that he has, that he will be able to be independent. He may have these syndromes, but we will do everything possible so that he doesn't become the syndromes. I will do everything that I can to help him."
One of the family's ongoing goals is to help raise awareness about the rare syndromes so that others might benefit.
Aston himself could grow up to one day be an inspiration to others with the syndromes. According to his dad, the boy has already demonstrated that others could learn from his positive attitude.
"Aston is a very smart young man who deals with a lot of problems," Tom explained. "He has such a positive attitude. He has a smile that never leaves. We are so proud of the progress that he has made. He's just a very special little boy. He's amazing."
More information about Aston's story can be found on the Facebook page, www.facebook.com/aston'sstory.
Kathleen Geesey, a retired English teacher who worked in the Oxford Area School District for three decades, is one of the people who has been inspired by the courage of the entire Ankney family. She taught Tom Ankney in high school in the mid-1980s, and when she heard about his son's medical issues, she wanted to help in some way.
"Tom is a very nice guy," Geesey explained. "He is such a good kid—I still call him a kid—and he has a kind heart. And Aston is a darling little boy. He really is a precious little child."
Geesey has written and published 11 books. She decided to hold a book-signing on Friday, Dec. 12 from noon to 5 p.m. at Philips Florist in Oxford. She will donate all the money from the event to the Ankney family.
"Every cent of this is going to go to Tom and his family," Geesey explained. "This is something that I can do to help out."
Raising money for a good cause is nothing new for Geesey. She said that her parents instilled in her the need to help others. And, as a teacher, she was always amazed at how generous students were when it came time to raise money for a worthy cause.
"When I was at school and still teaching," she explained, "I ran the talent shows. We donated all the money we raised to Relay for Life. We also did an Adopt-a-Child program. I couldn't get over how generous the kids are."
Of the 11 novels that Geesey has written, some are for adults while others are targeted toward teens. One book, "Black Fog," addressed the issue of bullying. A private school in Philadelphia used the book as a teaching tool for the freshman class this year. She's hoping that the book-signing will not only raise some money for the Ankney family to offset some of the high medical expenses, but also to raise awareness about Prader-Willi Syndrome and NF1.
"Tom's goal is to make people aware of the syndromes since people do not know much about them," Geesey explained.
To contact Staff Writer Steven Hoffman, email email@example.com.