Why This Kentucky Family Raises Hurler Syndrome Awareness


Newborn screening is an important public health initiative that checks for rare and serious genetic, blood, hormonal, or metabolic conditions at birth. The test collects blood through a heel prick, which is later analyzed. According to the Owensboro Times, this is how Kindra and John Young learned that their son, Wyatt, had a rare inherited metabolic disease called mucopolysaccharidosis type I, or Hurler syndrome. Cincinnati Children’s Hospital later confirmed the diagnosis.

Wyatt’s Story

Initially, the Young family was in shock. They had never heard of Hurler syndrome before, and the information they found was somewhat daunting. Questions started to emerge: What would the future hold? What kind of help would Wyatt need?

However, after processing the news, the Youngs adopted a new approach: embracing hope, remaining optimistic, and taking every possible step to help Wyatt. As Hurler syndrome can be fatal in childhood without treatment, they initiated weekly enzyme replacement therapy (ERT) for Wyatt. He is also scheduled to undergo a bone marrow transplant later this month. These treatment options aim to alleviate symptoms and slow the progression of the disease.

Although they still don’t know what the future holds, the Youngs are profoundly grateful for the support they’ve received and the financial contributions that will enable them to provide Wyatt with the best standard of care. They established the Wyatt Young Foundation to assist with all medical, treatment, and travel expenses. If any funds are not used for Wyatt’s treatment, the Youngs plan to donate the money to other families in need. An upcoming golf scramble fundraiser will take place at Ben Hawes Park on October 21, 2023, at 9 a.m. For more information on how to attend, please contact Zach Daniels at 270-316-9239.

Beyond caring for Wyatt, the family advocates for improved research into MPS I, its symptoms, and potential treatments.

What is Hurler Syndrome (MPS I)?

Mucopolysaccharidosis has several subtypes, including Hurler syndrome, Hunter syndrome, Sanfilippo syndrome, Morquio syndrome, and Maroteaux-Lamy syndrome. Hurler syndrome is considered the most severe form of mucopolysaccharidosis. It is caused by genetic mutations that result in insufficient lysosomal alpha-L-iduronidase enzymes in the body. As a result, those affected cannot break down long chains of sugar molecules called mucopolysaccharides.

Symptoms appear as these mucopolysaccharides accumulate, leading to organ damage. Typically, these symptoms manifest at or around birth, although they can appear later. Symptoms may include corneal clouding, frequent upper respiratory tract infections, breathing difficulties, an enlarged liver and spleen, the inability to fully open the fingers, developmental delays, hernias, malfunctioning heart valves, deafness, stiff joints, spinal abnormalities, hydrocephalus, enlarged adenoids and tonsils, and progressive intellectual disability.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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