Fundraiser to benefit area boy with rare genetic syndrome
An email message from Cassie Grassmyer ends with three simple words: “We are blessed.”
It’s a big statement from a mom whose family is facing one of the cruelest of life’s paths – her son, Jack, who turns 1 next week, was diagnosed with a rare genetic syndrome with a discouraging prognosis.
Those diagnosed with Miller-Dieker’s Lissencephaly Syndrome, like her son, typically have a short life expectancy, Cassie said.
Since being diagnosed, Jack has had hospital stays for many ailments and procedures including seizures, a respiratory virus, pneumonia and a feeding tube. He will have another surgery in June.
Cassie works for the Altoona Area School District. Her husband and Jack’s father, Capt. Jim Grassmyer, Army Reserves, was the commander of the 298th SMC in Altoona and deployed with them in 2010 to Iraq for a year. The accounting instructor at Penn State Altoona currently drills with a unit in Butler.
Jim also has three daughters who are also Cassie’s stepdaughters: Rio, 14; Dayton, 12; and Oaklee, 10.
On Sept. 25, Jack, at 4 months, had an appointment at Pitts-burgh Children’s Hospital Cranio-Facial Clinic on a local doctor’s order because his head was a bit flat on one side and it wasn’t improving as he got older, Cassie said. He also wasn’t really rolling over or lifting his head very well, she said.
“It wasn’t a big concern yet because he was only 4 months, but that was like a red flag,” she said.
The news from that appointment was good – the plates in Jack’s head were not fused together. But a nurse concerned with Jack’s development recommended early intervention to the family.
The next evening, 4-month-old Jack had his “first big seizure,” his mom said.
At first, with seizures difficult to detect, doctors were not convinced Jack was having them, but then an emergency room doctor witnessed Jack having one. Jack was transported to Pitts-burgh and admitted to the Children’s Hospital epilepsy ward and Pediatric Intensive Care Unit, Cassie said. An abnormal MRI and genetic testing eventually revealed his diagnosis.
Lissencephaly is an umbrella term for syndromes where the outer layer of a person’s brain is smooth instead of grooved, Cassie said. Jack’s syndrome falls under the Miller-Dieker’s category, which means chromosome 17 is missing genes, specifically LIS1 causing Lissencephaly Jack’s chromosome 17 deletion is not a complete wipe out, though. He is only missing part of it. Also in his favor, Jack is not lacking another gene sometimes missing with the syndrome that causes more problems.
Cassie also found hope when coming across a 21-year-old with the syndrome on a site devoted to Miller-Dieker’s, she said.
“There’s all kinds of [degrees of the syndrome] and that’s why it’s so hard for doctors to talk to you about the future because every case is so different and so rare that they just really don’t know,” she said.
But what Cassie does know is how fortunate they are for the support they have received since. They decided to share their story with others on Facebook. In January, they started a community page dedicated to Jack’s progress dubbed “The Jack of Our Hearts.”
“It’s just overwhelming,” Cassie said of the support they have received from family, friends and the community. “It really restores your faith in people, the outpouring of love and support and prayers that we’ve gotten.”
They are fortunate to have that support, she said.
“We are truly blessed with Jack. He is our miracle. He is so strong. Jack’s strength gets us through, along with family, friends, support, love and prayers from all,” she said. “My husband always says that this little boy has been through and endured more than he has in his 45 years.”
Cassie said it is hard for them to accept financial support because they are doing OK, but Jack’s future needs, which will most certainly include medical equipment, are also unknown.
“So anything that we can do now to save for him is a good thing,” she said.
Alison Dunn-Davis and her mom, Dee Dunn, are organizing Saturday’s basket raffle.
Dunn-Davis contacted Grassmyer, with whom she went to high school and college, through Facebook, wanting to help.
Cassie said they are thankful for their efforts.
“I am always asking how are we ever going to thank people for what they have done and Alison told me a few months back that it doesn’t matter and just to tell myself that, “Everyone loves Jack,” Cassie said. “Everyone does love Jack and we are happy to share his story with the world.”
Dunn-Davis felt she was led to help the Grassmyer family, she said.
“I know that sounds maybe cliche, but really just because they’re amazing people and the love they have for this kid is tremendous,” she said.
“It’s incredible … how many people are supportive of this,” she added.
Cassie said her family is happy to share their story in hopes it can inspire someone else.
Jack, a happy baby, lost his smile while battling months of seizures. Once those were under control, his smile returned, Cassie said.
“So that’s the best thing in the world to see him smile, to see him giggle and he kicks and he tries to play, he doesn’t move his arms very much, but he’s doing well considering what he’s going through. So we try to be as positive as we can,” Cassie said.
“We have high hopes. I don’t want to think about what could be. We just try to take it day by day. We try not to look at the diagnosis itself. We try to just look at Jack and see what we can do,” she added.
This year’s Burgi’s Lowlife Riders annual charity event will help Jack and the Grassmyers’ neighbor, Evan Decker.
Mirror Staff Writer Amanda Gabeletto is at 949-7030.