HSAN1E Society

03/25/2026

Matt Collins here - I am not sure if I ever shared this but in 2018, we had a family meet-up in Baltimore that Dr. Klein was kind enough to attend and I recorded his presentation to us. There are no visuals (only audio) but I will share a link to the audio file in case it can be helpful to anyone here. I cannot upload the audio file directly (the file is too big) but you should be able to access it through the link (I promise it is safe):

Shared with Dropbox

02/28/2026

Today is Rare Disease Day! Repost this and show your support for HSAN1E.

02/26/2026

Hi everyone - I have set up some time to ask Dr. Klein questions (https://www.mayoclinic.org/biographies/klein-christopher-j-m-d/bio-20054307). If you don't know who Dr. Klein is, he is one of the most knowledgeable Drs. about HSAN1E and ADCADN and a leading researcher of the diseases. If you have questions/issues you'd like me to ask about, I am happy to do so. Please post here.

02/26/2026

The National Organization for Rare Disorders (NORD) is the official U.S. Sponsor of Rare Disease Day.

02/24/2026

Mental health challenges faced by people living with rare conditions remain widely misunderstood and under-researched. This track will focus on bringing these realities into focus and exploring how they can be better addressed.

For many rare diseases, mental health conditions are not only co-morbidities but can be core features of the disease experience, shaped by biological factors and compounded by psychological and social challenges. Sessions will explore the gaps in integrated care, from fragmented transitional pathways for young people with intellectual disabilities to the lack of structured neuropsychological assessment for adults. Drawing on emerging evidence and lived experience, discussions will examine gaps in research, definitions, biomarkers and trial design, as well as the profound impact of rare diseases on families and caregivers, who often face stress, isolation and limited support.

This track will provide a critical space to elevate mental health as a European policy priority, and to explore integrated approaches across care, research and social systems.

👉 Register & learn more: https://go.eurordis.org/register-in

02/21/2026

HSAN1E is a rare genetic disease. It is caused by a mutation in the DNMT1 gene.

🧬 People living with a rare disease often wait years for answers, facing limited research, slow progress, and therapies that remain out of reach.

Breakthroughs in genetics hold enormous promise, but we must ensure that innovation translates into equitable access, so progress benefits everyone, not just those in certain countries or health systems.

⚖️ Equality means giving everyone the same.
💜 Equity in rare diseases means every person, no matter their condition or country, deserves the same chance to benefit from a treatment for their condition.

👉 Learn more about equity: https://go.rarediseaseday.org/equity