They’re not alone
Support groups work for face-to-face meeting
Support groups often provide a helping hand for families going through hard times. That may be especially true for those who may have a unique, special child in their family.
Last month, Emma Rose Clatterbuck, 8, went on the trip of a lifetime to a Disney World Resort in Hawaii through the Make a Wish Foundation. She has a rare, genetic mutation but she isn’t alone. More than 200 families have joined an online support group to discuss the special traits their children all share and are now planning to visit Disney World in May 2018 to finally get their children together face to face.
“Emma was undiagnosed for five years and it felt like a lifetime,” said her mother, Jennifer Clatterbuck, 35, of Marietta. “The older children waited much longer for a diagnosis. Many of the younger children were diagnosed early because awareness is spreading.”
Clatterbuck said that along with providing a magical meeting place to have fun together, she hopes to continue raising awareness with their trip.
“An official meeting place complete with breakfast and characters is going to cost our group close to $15,000 because of the size,” she said. “There are families coming from all over the United States, Canada, Australi, and even Europe.”
The genetic mutation of the gene STXBP1 is currently considered very rare, affecting only one in every 91,000 births.
“Our support group has provided a place of safety, support and information for many of these children and their families,” said Clatterbuck.
Jazmin Holmes, 32, of Denver, Colo. has a 3-year-old daughter named Prudence with the rare disease. Prudence was diagnosed in August of 2015 and Holmes said that she’s constantly wondering what her future looks like with her daughter.
“The age differences in the support group go from newborns to 32 years old,” she said. “Doctors don’t have any answers for our future but to see the different ages and realizing that could potentially be us is life-changing. We find all the answers we need in that support group.”
The support group posts and shares updates via Facebook every day. A lot of the families have exchanged phone numbers and talk regularly about their children.
“We compare our children on a daily basis,” said Holly Prinz, 40, of Edgewater, Md. “It’s affected the way we treat our children. When we finally meet together next year, the feeling of being able to see and hug and just personally thank everyone will be overwhelming.”
Prinz has a 6-year-old daughter named Angel who has this condition. Angel suffers from severe seizures and Holly said she has tried nearly every remedy on her.
Mutations are typically new in families and a single copy of the gene is enough to cause the disorder. The children may display symptoms of neonatal epilepsy, Global Delay,- a condition that occurs during the developmental period of a child between birth and 18 years and is defined by the child being diagnosed with having a lower intellectual functioning than normal, cognitive impairment, autism, movement disorders and even Cerebral Palsy. Almost all of these children are non-verbal.
“Finally we won’t feel alone whenever we all get there,” said Erin Moyer, 32, of Montgomery, Ala. “These families all share similar milestones and similar upsets. Nobody knows what any of us are going through unless they’re like us.”
Moyer’s son, 3-year-old Benjamin, also suffers from this mutation. Moyer said it will be an emotional event when all the families are together.
“This is a once-in-a-lifetime opportunity. We all might sound the same talking about our excitement but it’s just all so overwhelming,” she said.
There is a GoFundMe page set up fundraising for the trip for all the families. Some families have a harder time paying for expenses than others. Donations can be accepted on GoFundMe.com/disneyworldstxmeetgreet2018.
Kyle, 33, and Emily Jones, 28, of St. Louis, Mo. created the event for these families to get together next year.
“My husband has always been a dreamer and at first we didn’t know who would be interested in such a thing,” said Emily. “Then we started talking about it and everyone was on board.”
Emily said they had taken their 3-year-old daughter Piper to Disney World before and they agreed they’d never seen her so happy.
“It was such an escape for us away from therapy visits and doctor visits,” said Emily. “It brought so much joy to her and we hope to do the same with the other kids. To see a child like yours that is so unique and rare, we will all be holding back tears.”
Emily said she’d never thought about this when having a baby.
“You’re never expecting this to happen but it will be so cool to meet people that walk in our shoes,” she said. “To watch them express themselves without words, it will be amazing.”
At a glance
About Epileptic Encephalotpathy
¯ This is a severe, rare form of epilepsy.
¯ It is caused by the genetic mutation of the gene STXBP1.
¯ Mutations are typically new in families and a single copy of the gene is enough to cause the disorder.
¯ The children may display symptoms in varying severities.
¯ Neonatal epilepsy and Global Delay are common symptoms.
¯ Global Delay is a condition that occurs during the developmental period of a child between birth and 18 years and is defined by the child being diagnosed with having a lower intellectual functioning than normal, cognitive impairment, autism, movement disorders and even Cerebral Palsy.