Nicolas Schwuchow was only eight months old when he was diagnosed with spinal muscular atrophy, a genetic condition that effects the muscles in a persons’ body.
He is missing a gene, known as the survival motor neuron Gene 1, which produces protein to keep his muscles strong.
The missing protein causes motor neurons, nerve cells in the spinal cord that send out nerve fibers to muscles, to shrink and die.
It is a rare condition that occurs in approximately one out of every 6,000 live births. And one in 40 people are carriers of the disease without even knowing it.
Signs started when Nicolas was five and a half months old. He wasn’t moving his legs, he wasn’t bearing his weight and he wasn’t sitting up.
He was diagnosed as a Type 1, the most severe of the categories, although on the milder side.
There is no cure for the disease.
Nicolas, however, has exceeded everyone’s expectations.
Crucial therapies and specialized contraptions have helped the three-year-old thrive.
Therapies that are paid for by Variety, the Children’s Charity.
“He does water therapy once a week. He does therapy in a clinic once a week. The therapy is almost $5,700 a year and that’s a lot of money for us. It really eases the burden,” explained Nicolas’ mom, Petra Fellinger.
“When you’re first introduced to the diagnosis a lot of things come flying at you fast,” continued his father Rolf about the unexpected costs the family faces.
They had to buy an accessible van, with a ramp paid for by Variety. They are also undergoing a home renovation which will include an elevator.
Nicolas’ power wheelchair cost upwards of $30,000. A manual chair they are buying for him is almost $5,000. A standing frame that supports Nicolas in a standing position and helps his bone density and digestion cost them $7,000.
“It’s hundreds of thousands of dollars. So, the $5,700 dollars, in the grand scheme to people, might not sound like a lot, but to us it’s crucial,” Rolf said.
This year the Variety Show of Hearts Telethon is celebrating its 50th anniversary with two live concerts at The Centre, 777 Homer Street, Vancouver. Saturday’s concert takes place from 7 p.m. to 11 p.m. and the lineup includes headliners 54-40 along with Charlie, Aaron Pritchett, Five Alarm Funk, Vancouver TheatreSports League and the Sarah McLachlan School of Music.
On Sunday, the concert takes place 2:30 p.m. to 5:30 p.m. and the lineup includes Jim Byrnes, Barney Bentall, Dustin Bentall, Shari Ulrich, Colleen Rennison and Chilliwack.
Nicholas will be part of the Sunday show, 2-3 p.m., showing his water therapy.
The telethon will be broadcast live from the Hard Rock Theatre in Coquitlam.
To date Variety has raised over $189 million for children with special needs across British Columbia.