PEORIA, Ill. (WMBD) — A Peoria Heights family is breathing a sigh of relief after finally getting a diagnosis of a rare genetic disease affecting two teenage sons.
Rare Disease Day on Feb. 28 is a day to raise awareness for rare diseases and improve access to treatments for patients and their families.
Suzanne and Jeff Ruskusky’s sons Garrett, 14, and Gabriel, 13, both have a rare genetic disease called WWOX.
“It’s known for unfortunately having some pretty significant cognitive disabilities. The biggest challenge that we’ve been facing with the boys these last handful of years has been respiratory scoliosis and other skeletal deformities,” said Jeff.
Suzanne said they have been searching for a diagnosis since the boys were babies. They finally got their answer about two weeks ago.
“We’ve had to go from here to Chicago to Mayo Clinic to National Institutes of Health, and we did finally find it here at OSF. It’s very relieving to finally know what it is,” said Suzanne.
Both Suzanne and Jeff are carriers of a recessive mutation of the WWOX gene.
“It’s very rare to find another carrier to this disease,” said Suzanne.
Suzanne said Gabriel’s condition is more severe than his brothers. He has been in the hospital since September.
In October, Gabriel underwent a tracheotomy to help him breathe. He is recovering at Almost Home Kids in Peoria, a transitional and respite care center for children with complex medical conditions in a home-like setting.
“It’s really nice because we feel like it’s more of a family environment,” said Suzanne.
Both boys are nonverbal. Suzanne said Garrett uses a PCR machine to communicate through eye gazes.
“That has been really big. He actually can talk to us like saying ‘oh that is awesome’, or ‘lets play’ or ‘I want to sleep’,” said Suzanne.
The Ruskusky family started the G and g Foundation last year, initially raising funds for Almost Home Kids. But they hope to do more.
“Hopefully in time be able to use the foundation to help other families with things that insurance doesn’t always cover. And then bigger picture with WWOX they are definitely working on research to try and help find treatments that can help,” said Jeff.