HSAN1E Society

HSAN1E Society HSAN1E Society’s purpose is to create awareness of HSAN1E, to provide emotional support to families affected by HSAN1E and help facilitate research.

HSAN1E Society is a non-profit organization, started by members of the Lindgren and Condensa families to bring awareness to this devastating and fatal disease. Our purpose is to provide support to those affected and source of information to all.

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...
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

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

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

Genetic testing is a vital part in diagnosing HSAN1E
07/25/2025

Genetic testing is a vital part in diagnosing HSAN1E

Today, July 25, is the first-ever Action Day! Genetic testing is critical at the first sign of developmental delays. Even if you already have a diagnosis, testing helps. Take the first step at StartGenetic.org.

Join the movement by spreading the message on social media today!

If you are interested in learning more, download the free Parent Toolkit at StartGenetic.org

05/30/2025

Join NORD for a virtual Community Conversation on The Living Rare Study, the first-ever large-scale effort in the US to track the evolving experience of thousands of individuals and caregivers impacted by rare diseases! Participants will receive step-by-step education on how to participate in the st...

04/19/2025
04/19/2025
Today is Rare Disease Day US and a good reminder about the importance of completing or updating your entry in the HSAN1E...
02/28/2025

Today is Rare Disease Day US and a good reminder about the importance of completing or updating your entry in the HSAN1E patient registry. Visit: www.hsan1esociety.org

This , NORD invites all rare patients and caregivers to explore the research study options on our IAMRARE patient registry platform at IAmRare.org to see if there is one for your condition.

IAMRARE is home to more than 60 natural history studies covering more than 140 disorders. This data is patient-submitted and patient-owned; all our registries are operated by nonprofit patient organizations. More than 15,000 people are already participating. Join them at IAmRare.org.

Address

P. O. Box 20434
Clarksville, TN
37042

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