NORTH TONAWANDA, N.Y. (WIVB) — A North Tonawanda boy was diagnosed with a rare liver disease at just 6 years old. Now he’s raising awareness around the world through a global campaign.
The disease, lysosomal acid lipase deficiency (LAL-D) is so rare that it impacts fewer than 20 people per million.
You can imagine how Tristan’s parents felt when he was diagnosed with something so serious at just 6 years old.
He was born with the life threatening genetic disease that can lead to progressive damage of several organs. His parents say when doctors diagnosed him, he had an enlarged liver and stage 2 scarring.
Today though you’d never know it, Tristan is a typical 10 year old who loves school and playing outdoors.
His parents say as soon as Tristan tried a trial run of drug called kanuma, his condition started improving. Tristan receives infusions every other week and will also need to take kanuma for the rest of his life. His parents say having a rare disease has never held Tristan back.
“With the disease he his missing enzymes in his liver to help process the things in his liver so his cholesterol would get elevated and other things so it made fatty tissue basically in his liver so it wouldn’t process in his liver it would get enlarged and bigger,” said Holly Hume, Tristan’s Mother.
“Now I’m nice and better and my liver is getting back to normal,” said Tristan Hume of North Tonawanda.
Tristan and his family have joined in on a global campaign called Uncommon Strength to raise awareness of rare diseases. For more information go to http://www.uncommonstrength.com