Plymouth Family Raises Awareness for Rare Disease
Having a child changes your life. One family in Plymouth was overjoyed to welcome a baby girl into their life. However, their joy quickly turned to concern once their daughter, Lainey, was diagnosed with an extremely rare disease.
“We felt like we were in the twilight zone,” says Stacie Matuska, Lainey’s mom. “We kept going to doctor they just kept telling us I’ve never seen this before but she will probably grow out of it.”
The Matuskas took their daughter to a specialist where they received news they never could have imagined.
“After multiple tests, multiple specialist visits that last thing we did was genetic testing,” said Stacie. “We found out Lainey had Alternating Hemiplegia of Childhood. We didn’t even know what that was. I don’t think anyone knows that that is.”
Alternating Hemiplegia of Childhood
Alternating Hemiplegia of Childhood, or AHC, is an extremely rare neurological condition that only affects one in a million children. It can cause temporary paralysis, often affecting one side of the body.
“The initial diagnosis for us was absolutely devastating,” said Stacie. “Everything you read about the disease is terrible news. There is cognitive impairment and physical impairment. There a lot of unknowns with the disease too.”
Even though the Matuskas didn’t know much about AHC, they started researching ways they could cure their daughter. They came across an initiative to help cure AHC by gene therapy.
“You’re essentially taking the good copy of the gene and inserting it into the brain and it overcomes the bad copy of the gene,” explained Stacie.
People from across the globe are working together to raise money to fund the research needed to get trials started. The Matuskas say the hardest part about raising the money needed is that many people don’t know what AHC is.
“Since we are such a small disease we don’t have the big name that everyone recognizes,” said Rob Matuska, Lainey’s dad. “We don’t have a pink ribbon that everyone can rally around.”
The Matuskas and other families affected by the disease are hopeful that trials will begin within the next couple of years. Especially since time is a huge factor for all the children who have been diagnosed.
“Time is of the essence for these kids,” added Stacie. “You are dealing with a neuro-degenerative disease so the earlier you can get a cure for these young ones the better.”
Lifting up Lainey
The Matuskas have set up a website explaining more about the disease. There is also an area where you can donate to help fund the research. For more information click here.