Article below tells a sweet story of one of our fellow PMS kiddos.
By Elizabeth Sabo The Post contributor thepostnewspapers.com
NORTON – NiCole and Chris Hilker wanted a family and decided adoption was the route for them. Nine years later, the Hilker family, who reside in Norton, grew from a young married couple to a family with four children adopted from Guatemala, Vietnam and China. Izzy, 9, was the Hilkers’ first child, followed by Corbin, 7.
The Hilkers worked with a special needs adoption agency, Holt International, to bring home their latest two children, Lila, 5, and Eli, 6, knowing each had a cleft palate, but they did not anticipate the challenges Lila would face as she grew.
“Lila joined our family when she was 21 months old,” NiCole said. “We expected her to be delayed because she came from an orphanage that was infamous for not having good care. After the repairs for her cleft palate, we noticed something more was going on.”
After having Lila for only six months, the Hilkers took their daughter to Akron Children’s Hospital, where the doctors suggested doing a genetics blood test. Lila’s diagnosis was Phelan-McDermid Syndrome, which is an abnormality associated with the SHANK3 gene on chromosome 22.
“I got the phone call and the doctors tell me it’s very rare,” NiCole said. “They said they’ve never seen a patient with it before. Basically, the SHANK3 gene is the scaffolding that holds together the part of the cell that codes and communicates important messages to the brain, kidneys and heart. Many doctors have only seen one, two or zero cases in their practices. They gave me a website to go to, and then we were kind of on our own.”
The website given to the Hilkers directed them to the Phelan-McDermid Syndrome Foundation. The foundation works with families, teachers, researchers, doctors, and therapists around the world to bring awareness, support and research opportunities to families with Phelan-Mcdermid syndrome in their lives.
“The morning I got the phone call about the diagnosis, I made three phone calls,” NiCole said. “I called Chris, my mother and the foundation. They directed me to a support group, and from there I found a Facebook page and other parents.”
NiCole said the Facebook page was a wonderful tool for helping her connect with other families.
“The Facebook page is set up for parents and researchers to post updates on the syndrome,” NiCole said.
Chris said it is hard not to say enough nice things about the foundation.
“Even with all the doctors’ medical knowledge, they still didn’t know much about it,” Chris said. “The foundation has been great at helping us. NiCole does a lot of research herself and they are always glad to get whatever she gives them.”
The foundation also sponsors fundraisers to raise money and awareness for research on Phelan-Mcdermid syndrome.
“We did our own fundraiser and collected about $200 for the foundation,” NiCole said. “It was really cool because people I went to high school with and cousins I haven’t talked to in a long time donated.”
NiCole also mentioned the success of another parent’s fundraiser.
“One of the moms from Delaware made shirts for St. Patrick’s Day that said, ‘Phelan Lucky,’ on the front with a link to the foundation on the back. She sold a shirt in all 50 states and some internationally and raised $27,000.”
NiCole said that the fundraisers help bring much-needed awareness to the syndrome because it doesn’t only affect children. Because so few adults are diagnosed, not much is known about the progression of Phelan-Mcdermid syndrome into adulthood. When Lila was diagnosed two years ago, only about 600 other cases of had been discovered. Now, with more testing available, about 1,200 patients have been diagnosed.
NiCole also pointed out current research being done pertaining to the same gene that is affected in Phelan-Mcdermid syndrome. Doctors and researchers are finding that the SHANK3 gene is also causing problems in people who have schizophrenia, autism and Alzheimer’s disease, so the research being done on Phelan-Mcdermid syndrome has brought more awareness to that particular gene, which could lead to learning more about those other disorders and diseases.
Those diagnosed with Phelan-Mcdermid syndrome have a greater chance at being nonverbal for most of their lives and will most likely not be able to live independently. Cognitive functioning is equivalent to that of a 2- to 4-year-old child throughout the life span and is accompanied by severe brain abnormalities, autism or other spectrum disorders, sensitivity to heat, and heart and kidney complications.
“Kids with Phelan-Mcdermid syndrome often don’t sweat enough or at all, so we have to be vigilant with Lila when the weather gets in the 70s and higher,” NiCole said. “She can only play outside on a warm day for about 15 minutes at a time and then she has to come inside and cool off in the air conditioning.”
Because of the conditions associated with Phelan-Mcdermid syndrome, Lila has a lot of testing done to make sure her body and brain are working together.
“About 75-80 percent of people with Phelan-Mcdermid syndrome have autism,” NiCole said. “Lila isn’t autistic, but we do have to monitor her heart and kidneys. Many kids are also late walkers or don’t walk at all and have low muscle tone. Lila didn’t start walking until 37 months.”
NiCole said Lila had to use a wheelchair until this year, when she started walking on her own with only braces to protect her ankles and knees.
“Last year Lila had to use her wheelchair to get on the bus and go to school,” NiCole said. “This year Lila is riding the bus to school without it.”
Lila started attending the preschool in Grill Elementary right before her third birthday. Now, Lila goes to school four mornings a week, where she receives classroom time, as well as occupational, physical and speech therapy. On Friday mornings, Lila travels to Pegasus Farm in Hartville, where she does therapeutic horseback riding.
Lila is also nonverbal, which occurs in 99 percent of Phelan-Mcdermid syndrome cases.
“At any given time, Lila only has three to four words, and they always aren’t always the same words.” NiCole said. “The foundation referred us to alternative augmentative communication, with uses a variety of things to help Lila communicate.”
The Hilkers were invited to participate in a program hosted by the University of Akron’s speech pathology Master’s program.
“We sat down with seven grad students and two professors and they helped us find what was best for Lila’s needs,” NiCole said. “After trying out several different devices, we decided on an iPad with an application that could help her communicate.”
Lila’s iPad goes everywhere she goes and she uses it to talk with her family, friends and teachers. As lessons change, new sight words, letters of the week, and classroom assignments can be programmed into Lila’s iPad by NiCole, Lila’s therapists or her teacher, Laura Nichols.
Nichols shared that the children in Lila’s class are very accepting and helpful.
“Kids don’t have the stigma like we adults do about people who are different,” Nichols said. “To her classmates, she’s just one of them and they talk to her like they talk to any of their other friends. If they want to talk to her or notice she doesn’t have her iPad, they go get it for her and help her. It’s a really cool dynamic.”
Nichols also said that Lila has become such an enjoyable part of the class that she will be sad to see her advance into kindergarten in two years.
“When we met Lila we were collectively a brand new team and knew Lila would be the most involved kiddo in the class,” Nichols said. “I kept thinking, ‘How will these parents trust us with this beautiful baby?’ We had a lot of apprehension at first as to how we would meet her needs in the classroom. Her family was so open to communication and Lila’s goals, and now she so much a part of the classroom.”
NiCole shares Nichols’ enthusiasm for Lila’s current progress and future.
“She wins people over pretty fast,” NiCole said. “She’s a fun kid and we’re trying to keep her as healthy and happy as we can. The people in town are very kind and nice to her and school helps her with so much. We are blessed that she can go to school there and be a part of that.”
For more information on the syndrome, visit the Phelan-McDermid Syndrome Foundation’s website at www.22q13.org.
