OLEAN — Naka King of Sugar Grove, Pa. and Shannon Davison of Bolivar met for the first time this past week in Olean when relating the story of a rare syndrome shared by their two children.
Their children, Rylan, 6, and Tucker, 7, respectively, each have been diagnosed with Dup 15q syndrome, a rare genetic disorder that affects approximately 1,300 people worldwide. The name is the abbreviation for the syndrome described as a duplication of the 15th chromosome.
While King and Davison met over a year ago online in the Dup15q Alliance parent support group, their recent in-person meeting with the Times Herald was held to publicize the current Shoe Drive fundraiser that is expected to raise awareness, support research, provide family support and target treatments for the syndrome. The two families are joining seven other families across the country conducting the drive.
Regionally, collections for all sizes of new or gently used shoes are being held at Good Times of Olean on East State Street, Steuben Trust in Bolivar, Forest Heights Golf Course in Jamestown and Lindell’s Hatch Patch in Warren, Pa. The fundraiser will receive 40 cents for every pound of shoes received.
As for the syndrome, King said it’s a random disorder that is unrelated to environmental or lifestyle factors.
“Those with Dup15q may exhibit some, all or only a few of the potential components of the disorder,” King explained. Those components can include hypotonia or poor muscle tone, facial features such as flat nasal bridges or deep-set eyes, high palates and occasional differences in skin pigmentation.
Those with the syndrome may also have inhibited growth or small stature; differences in heart, liver, or kidney formation; delays with fine motor, cognitive, speech and language, as well as with developmental, behavioral and sensory processing; and higher rates of diagnosis on the autism spectrum. Attention deficit, anxiety and seizure disorders are also more common with Dup15q, she added.
In sharing the story of her son, Davison said Tucker was born without any complications.
An employee of Olean Physical Therapy, Davison and her husband, Jeff, had suspicions that something was amiss with her son when he was about 6 months old and wasn’t meeting the typical milestones of development.
“He wouldn't laugh, he was very weak with no interest in moving and he didn't really interact with anyone, other than being snugly,” she recalled.
Tucker’s grand mal seizure at age 9 months was later diagnosed as infantile spasms, a rare childhood epilepsy. While medications eventually stopped the seizures, genetic tests eventually revealed Tucker had Dup 15q.
“My heart sank,” Davison admitted. “We tried to remain optimistic because the unknown does leave you with that opportunity.”
Davison learned through a Facebook page that her son’s life would likely be filled with daily struggles that include epilepsy, autism, sensory processing disorder, cognitive delay and other unknowns.
She said Tucker, who has an older brother, Maddox, has been helped through a special needs class at Washington West Elementary School, where he has been enrolled since the age of 2 years and 8 months.
“Tucker is clearly a blessing,” Davison added. “He has touched every person's life that he's ever come in contact with; he knows no judgement. His life is pure love and I'm so incredibly lucky to call him my little guy.”
King, a former Olean resident who had worked for the Long Consulting Group, said her daughter, Rylan, was born four weeks early via C-section in 2011. Her baby weighed just a little over 5 pounds but was “stunningly beautiful.”
King said the first few weeks were wonderful with her new baby, but at 1 month the infant started to cry — a lot.
“All the time, day, night, she wouldn’t sleep for more than eight hours in a 24-hour period,” King recalled. “She hit 3 months and wasn't meeting her milestones, then 6 months and still hadn't met her 3-month milestones.”
As numerous tests showed nothing abnormal, doctors rationalized the baby was delayed from being born early, the lack of sleep and colic. When Rylan turned 1, she started crawling, finally stopped crying and smiled for the first time. In addition, she began receiving physical therapy and occupational therapy services through early intervention.
As their child grew, however, King and her husband, Nick, continued to see her delays and the gap between her actual age and developmental age.
Finally, in December of 2014, the family received an answer to their questions when they took Rylan to Children’s Hospital of Pittsburgh of UPMC for genetic testing. In May of 2015, they learned their daughter had Dup 15q.
“I was relieved — we had an answer,” King said. “To us, it didn't change anything, but how we approached her future — she was still the same Rylan.”
Later research led King to the Dup 15q Alliance website, where she watched a video and “cried and cried because everything these families were saying was my family.”
A year later, they enrolled Ryan in a full-day, public preschool program in Warren, where she receives physical, occupational and speech therapy, among other services.
“This past year, she has flourished; she is walking with few falls, she started jumping, climbing and riding a scooter,” her mother said. “She can help dress and undress herself. She has started voicing her needs” and enjoys helping with her younger brother, Bryer.
Although Rylan has significant struggles with gastrointestinal issues, sleep and sensory seeking, her parents continue to look for ways to control these. They also continue to reach out to other families for help and support through the alliance.
“I am so thankful for the Dup 15q Alliance and the ability to connect with families like Tucker’s,” she concluded.
(Contact reporter Kate Day Sager at email@example.com. Follow her on Twitter, OTHKate)