Hope for Beau: Fighting a Rare Genetic Disorder

Every parent's hope is to see their child thrive. For us, that hope is intertwined with a daily battle against a rare genetic disorder. With your support, we can change Beau's future.

***All donations are tax-deductible***

OUR STORY

Beau is a joyful, curious little boy who has faced significant challenges since birth. Feeding was his first hurdle—he couldn’t nurse or take a bottle and had to be fed with a syringe and our finger. Even with our efforts, he struggled to gain weight, leading doctors to diagnose him as “failure to thrive.”

As he grew, other challenges surfaced. Beau has low muscle tone, which delayed major milestones like sitting, walking, and talking. After months of physical therapy, he took his first steps at 21 months, but his balance remains unsteady. Delays in motor skills and speech have required consistent therapy and care.

Despite his struggles, Beau’s bright personality has always shone through. He’s a happy, social child who loves dogs, music, and connecting with people. His curiosity and bright smile light up every room.

After countless consultations and tests, Beau was diagnosed with a mutation in the PSMC5 gene—a rare condition affecting the proteasome, the cell’s “garbage disposal” system. This mutation leads to the buildup of damaged proteins in cells, which impacts his motor skills, speech, and development.

THE URGENCY

Currently, there are no treatments or cures for PSMC5-related disorders. Without intervention, this condition may be degenerative over time, as the buildup of damaged proteins in cells can worsen, particularly in the brain.

For Beau, time is critical. Early intervention is essential because the brain is still developing during childhood. Without treatment or a cure, Beau’s intellectual delays and disabilities are likely to become more severe.

However, there is hope. Promising progress is being made in preclinical studies, including mice models for potential treatments and an initial proof of concept for gene therapy. With your support, we can accelerate this research and give Beau—and others like him—a chance at a brighter future.

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THREE THINGS WE’RE ASKING YOU TO DO

1. Please donate what you can. Every dollar counts, and all donations are tax-deductible.

2. Share Beau’s story via social media, email, or word of mouth. The more people who hear about it, the greater our chance of reaching our goal.

3. Leverage your network. If you have ideas, tips, or contacts who could help make this campaign go viral, we’d love to hear from you!

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WHERE YOUR MONEY IS GOING

Every dollar goes to the PSMC5 Foundation, a 501(c)(3) nonprofit organization dedicated to funding research and raising awareness for PSMC5-related disorders.

Funds raised will directly support:

Time is critical for Beau and other children with this condition. Your generosity can help fund the research necessary to develop life-changing treatments.

WHY SO MUCH MONEY?

Rare disease research is underfunded because pharmaceutical companies see little financial incentive to develop treatments. For PSMC5-related disorders, it’s up to families like ours to drive progress.

Research into conditions like this is expensive, requiring millions of dollars to advance from preclinical studies to therapeutic trials. Without funding, these breakthroughs may never happen. With your help, we can change the future for Beau and others like him.

OTHER WAYS TO DONATE

FOLLOW THE LATEST

Facebook: facebook.com/psmc5.org

Instagram: instagram.com/psmc_5/

YouTube: youtube.com/@PSMC5Foundation

SPECIAL THANKS

We are incredibly grateful to Mural Studios in Seattle for dedicating their time and talent to creating our video.

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Time is of the essence. With your help, we can give Beau and other children affected by PSMC5 mutations a chance at a brighter future.

Thank you for your support,

Sarah & Evan