Meet Kristin

My name is Kristin, and I am an elementary school mental and behavioral health professional and advocate. I believe I inherited my passion for advocacy from my maternal grandfather, who served as the mayor of a small town in Maryland for many years. While advocacy has always been part of who I am, my own genetic health challenges and journey have deepened and strengthened that passion.

My first appointment with a neurologist was in 2004, after approximately five years of seeking care through my primary healthcare provider. I went into that appointment saying, “Something is wrong with my legs, and they are weaker than they should be.” I left with the neurologist’s response: “You have nothing big and scary wrong with you.” By my third neurology appointment, I had been diagnosed with ALS and was given approximately three years to live. In total, I have received treatment from six different neurologists.

After 23 years of dismissal, countless tests, referrals, misdiagnoses, and, most importantly, perseverance, I was finally diagnosed with an ultra-rare disease called Late Onset Sandhoff disease and became part of the LOTSS community. Although receiving the diagnosis was overwhelming, it also brought an immense sense of relief because I finally had an explanation for what was happening to my body. Today, I am one of only seven adults in the United States living with this ultra-rare disease.

Kristin’s Journey

You may notice me struggling with what appears to be clumsiness, but it is actually severe neuropathy, loss of mobility, weakness in my arms and legs, and at times, falls. There is currently no cure for Sandhoff disease.

This ongoing journey has taught me the importance of resilience, self-advocacy, perseverance, community, and supportive relationships. Living with an ultra-rare disease presents numerous daily challenges, both physical and emotional, but it has also given me a deeper appreciation for every day I am able to be physically active, every small step I take, and the simple gift of standing on my own two feet.

I have learned to be my own strongest advocate, to seek support when I need it, and to never stop believing that answers are possible. While my diagnosis has changed my life, it does not define who I am. Instead, it has strengthened my determination to raise awareness, share my story, show compassion, make a meaningful difference, and inspire others facing similar journeys by reminding them that they are never alone.