Hope With Lo: Raising Awareness of Zellweger Spectrum Disorder

Sara Kear and Jake Kaufman always knew that they wanted to start a family. So they did, welcoming into the world their beautiful children: Lola, now age 3, and Mills, who is around four months old. But their journey so far has not been easy. Lola, affectionately called “Lo,” was diagnosed with Zellweger spectrum disorder (ZSD) just before her first birthday.

According to reporting from NBC4i, Kear and Kaufman were initially shocked to learn Lo’s diagnosis. In fact, they share on their website “Hope With Lo”: 

Like every family who’s faced a diagnosis with no cure, we felt profound despair and helplessness. Something we had never heard of before now suddenly took over our entire existence.” 

But Kear and Kaufman set out to find the light in the darkness. They take the time each day to appreciate Lo: her appreciation for Harry Styles and Taylor Swift, her genuine joy from reading, the “hand game” that helps her connect, and her deep love of all spicy foods. Even though Lo may not reach milestones like other children her age, Kear and Kaufman appreciate every “inchstone” she achieves. 

They also founded Hope With Lo to raise Zellweger spectrum disorder awareness and to contribute funds to the Global Foundation for Peroxisomal Disorders. So far, their fundraising endeavors have raised $59,785 to go towards research—both to better understand the condition and to work towards a potential cure. They aim to increase the money raised to $75,000 or more. Hope With Lo is holding its inaugural 5K & inclusive Fun Run on the main campus of the Ohio State University on October 29, with all proceeds going to research. If you’d like to learn more about this event and how to register, head here

About Zellweger Spectrum Disorder

Also known as: Zellweger’s spectrum disorder; Zellweger spectrum disorders; Zellweger spectrum syndrome

Zellweger spectrum disorder refers to a group of rare, multisystem genetic disorders that are classified as different variants of one disease process—forming a spectrum of disease. Previously, ZSD was divided into categories: Zellweger syndrome as the most severe form, neonatal adrenoleukodystrophy as the intermediate form, and infantile Refsum disease or Heimler syndrome as the mild forms. 

Zellweger spectrum disorder may cause severe complications during infancy, leading to earlier mortality in the first year of life. However, some individuals with milder forms of ZSD have lived into adulthood. There are no cures or approved treatments for ZSD. Instead, treatment is often supportive. Finding additional therapies, or a cure, could be incredibly beneficial.

Symptoms of Zellweger spectrum disorder may include hypotonia (low or weak muscle tone), hearing and vision loss, decreased bone density, urinary tract and genital abnormalities, brain and spinal cord dysfunction, seizures, intellectual disability, abnormal tooth enamel, developmental delays, lung and kidney dysfunction, and distinctive facial features such as a flattened nose, broad nasal bridge, and large forehead.

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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