A family from Marquette is bringing awareness to Tay-Sachs disease
MARQUETTE, Mich. (WLUC) - A rare disease for a one of a kind little boy. For one family from Marquette, It’s been just over a year since they received a diagnosis that would change their son’s life forever.
Now, the Rudness family is working to spread awareness about Tay-Sachs disease.
“My first initial response at the diagnosis is what is it, I’ve never heard of it,” said Adam Rudness.
He says that’s a common response when he describes Tay-Sachs disease to others. Adam’s wife, Kim, said for the first 12 months of life, their son Greyson was moving around like any baby; He would say mama, pick up toys and read books with his parents. Then, he stopped.
“We noticed that he was very lethargic, he wasn’t himself,” said Kim.
That’s when they took him to the E.R. and they got the devastating news Greyson only has a few years of life left.
“Your whole future, it ends. Every hope and dream that you had, playing football games, and getting a driver’s license and going to prom, getting married, Disney World. that all just kind of stops,” said Adam.
Tay-Sachs is an inherited disorder that causes neurological problems caused by the death of nerve cells in the brain and spinal cord. One of Greyson’s doctor’s, Dr. Terence Edgar, a pediatric neurologist at Prevea Health in Green Bay, describes the disease as a tough time, with no muscle control and deteriorating brain function and movement.
“Initially, in the beginning of your second year of life. You can smile and see mom and dad. at the end of that year, you don’t recognize them anymore. By the time you get to 3 or 4 years of age, life is very difficult,” explained Dr. Edgar.
Adam says that’s why they want the Upper Peninsula community to be aware and get genetic testing done. Because this disease was not in their family history, but both he and Kim had the recessive gene.
“If you are planning on having a child. Go and get the testing. Mom and Dad get blood work drawn,” said Adam.
He says that can make you aware of what your child could face, as there is no cure for Tay-Sachs.
Despite the diagnosis, the family has found help from many groups, including Becky Benson, a conference and family services coordinator for a national patient advocacy group that provides support for 4 diseases, including Tay-Sachs.
“I think that there’s a lot of value in that particular brand of community and connection. We always say the family that you didn’t want to join but we are so happy to have,” added Benson.
Kim has been relaying information on her blog and the family is raising money on GoFundMe to cover medical costs.
“The day to day is hard and going through this is difficult,” said Kim.
But through it all, the doctors’ appointments, the laughs, the touches, the Rudness family has support.
“It’s tough for these families. And you know what they’re facing and to walk with them, is a huge privilege,” said Dr. Edgar.
Adam says if they can help just one family with the heartache from this rare disease, that makes this journey worth it.
“Rare can happen to anyone; We’re just two kids from the U.P. that never would of thought this would’ve happened to us or to our family,” said Adam.
To donate through GoFundMe click here.
To read the family’s blog click here.
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