A few months ago, Devin Sisak had never heard of Lesch-Nyhan syndrome. Today, he knows more about it than most doctors. The condition is so rare, it’s found in only five young boys across the country.
It’s been a real education for Sisak and his wife, Natasha, since they recently learned their son Holden has LNS. The condition causes kidney problems, lack of muscle control and a host of other challenges.
Many boys with LNS harm themselves by smacking their head against a wall or floor or by biting their own fingers or lips. So far, Holden, who is 19 months old, hasn’t hurt himself, but he is nonverbal and can’t sit up or walk.
“We were just relieved to get him diagnosed,” Sisak said. “His motor skills weren’t developing. He couldn’t sit up on his own.”
LNS is a rare genetic disorder almost exclusively found in boys. A deficiency of an enzyme called HGPRT causes a buildup of uric acid in all body fluids. Although his muscle development is impaired, Holden enjoys playing with his Hot Wheels cars and race tracks, going swimming and listening to music.
He also shares his dad’s love of the Montreal Canadiens and enjoyed watching their recent NHL playoff adventures, said Sisak, a former Hill Park student who lives in Kitchener.
“He always knew when the game was on and he’d sit and watch with me,” he said. “He just wouldn’t go to sleep.”
And he always has a big smile for his sister, Mallory, 3.
“People see his smile and they just love him,” Sisak said.
The family hopes to raise awareness of LNS at a fundraiser later this month in Stoney Creek. They’re also aiming to offset some of the costs associated with Holden’s care. He needs a special walker and constant supervision. For more on LNS or the fundraiser, see highfivesforholden.com.
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