Shep’s Story

On April 17, 2026, after months of genetic testing, we learned that our son, Shep, tested positive for a rare genetic disorder called Sanfilippo Syndrome (MPS-IIIA) more commonly referred to as “Childhood Alzheimers”. Our giggly, affectionate, wild, 2-year-old baby boy that we felt like we knew everything about had suddenly been living with a terminal syndrome. More simply put, Shep lacks an enzyme that breaks down cellular waste. This waste is building up on his brain and will eventually reach toxic levels, destroying his brain health over time. The brain damage Shep will experience will result total regression throughout his life, loosing all the speech and abilities he has worked so hard to gain, and reduce his life expectancy to his early teens.

If you know Shep, you know he has been fighting since day one. With a 5 week NICU stay, developmental delays, and countless therapies and doctors appointments throughout the last 2 years. He has been fighting to retain skills that come so easy to most. With everything going against him, he remains so full of life. Shep is truly the joy in our dark days. He loves tractors and puppy dogs, mowing the grass with Dad, chasing his sister, Ami, and snuggling up with Mom.

As much sadness as we feel, there is also so much hope. The first ever FDA approved gene therapy for MPSIIIA is pending approval in September of 2026. We remain hopeful that Shep will be able to recieve this life altering treatment, if it is approved and he is eligible to receive it. This treatment would stop his brain damage from progressing, allowing him to have better life quality and continue to experience cognitive growth.

We are so thankful for the outpouring of support that we have received. Every prayer has been felt, and every encouraging message is helping us navigate this heartbreaking time. We are forever, Team Sheppy.