Living with Hurler Syndrome: 'All three of my boys are eventually going to pass'

EUGENE, Ore. -- For several years, Laura Brown knew something was wrong with her young sons Timmy, Jacob and Lucas.

"Walking on the tip toes in early ages. Claw hands where their hands are locked. A flat nose, a big head. The teeth are oddly shaped," said Brown.

Brown took her children to several doctors over the years, but she says nobody knew how to diagnose her sons.

Last December, Brown went to OHSU's Doernbecher Children's hospital to see a genetic specialist and Dr. Cary Harding, who diagnosed her sons with Hurler Syndrome, also known as mucopolysaccharidosis I, or MPS. There is no cure for Hurler Syndrome.

Hurler Syndrome is when an enzyme is missing and the body can't get rid of a glue-like substance that the cells are supposed to be recycling. The glue is accumulating and filling up the cells, eventually changing the body structure and effecting the brain. 

"They’re normal at birth usually, but after time, their liver and spleen get bigger because they store this material. Gradually, that starts to effect the body and ultimately the brain," said Dr. Harding.

Dr. Harding says Hurler Syndrome is an inherited disease. He says research has found around one in every 200,000 babies born might have Hurler's Syndrome.

"Usually, you can't detect it at birth and it takes months to years before those changes become apparent," said Dr. Harding.

Harding says in his experience, his patients with severe Hurler's have not lived past 12 years old.

Oldest brother 8-year-old Timmy was diagnosed with a severe form of Hurler's. Timmy recently had upper airway surgery at OHSU because the build-up near his tonsils were beginning to fill up his airways. Timmy also got fitted with cast metal braces because he's showing signs of difficulty walking.

"You would think that he would be terribly in pain. They said it's because their bodies are so used to dealing with the pain that they think it's normal," said Brown.

Brown says her other sons, Lucas and Jacob, will have to go through the same process as Timmy. Brown makes several trips to Portland for doctor's appointments, but  she does not have a reliable car to drive them. Brown and her sons have to take Ridesource to Portland. Laura says she is in desperate need of a car.

They are looking into the possibility of beginning enzyme treatment at OHSU, though it is not a cure for Hurler Syndrome. Enzyme treatment only makes Hurler a more manageable disease.

The reality that Brown's children will die early is difficult for her to comprehend. "For some parents, it's best that they get themselves ready for their child's death, and i'm not gonna do that because i'm just not ready to accept that yet," said Brown. "I just have to keep hoping they can find a cure and the boys fight it."

Brown says her son's schools, Clear Lake Elementary and Prairie Mountain School in Eugene have been supportive of the family since the boys' diagnosis.

There is a fundraiser tonight at Pappy's Pizza on Barger in Eugene. 50% of all dine-in and take-out orders will be donated to the Brown family's medical expenses if you have a flyer.

The staff at Clear Lake Elementary helped set up a fund at Oregon Community Credit Union under "Brown Family" where donations can be made to help with their medical fees.