HSAN1E Society

Last chance to to submit your speaker applications for the 2024 NORD Breakthrough Summit!

Apply by midnight this Friday to speak at this gathering of hundreds of rare disease leaders: https://bit.ly/3UKwMYO

It is the rarest day of the year🦓!

Did you know that there are over 10,000 rare diseases worldwide? Share this post to spread awareness about World Rare Disease day and shed light on those affected.

To learn more about World Rare Disease Day, click here: https://go.globalgenes.org/RDD-2024

What is Rare Disease Day and When do we celebrate it?

Mark your calendars!!

More information to come....

Today is Genetic Counselor awareness day. A genetic counselor is a healthcare professional with special training in counseling and medical genetics, who can work with you and your doctor, help explain hard information about your genetics, and help you find ways to pay for tests.

Since most rare diseases are caused by changes in your genes, genetic testing is often an important part of the journey. For more information on genetic counselors and genetic testing, click the links below!

How a Genetic Counselor can Help You: https://go.globalgenes.org/as-gca

How a Genetic Counselor can Help You - Told by a RARE Patient: https://go.globalgenes.org/as-gca-rp

Questions to Ask Your Genetic Counselor for RARE Disease: https://go.globalgenes.org/as-gca-qs

“The Centers for Disease Control and Prevention, which calls caregivers the “backbone” of long-term home care in the United States, has warned that caregivers face many risks — anxiety and depression, chronic health conditions and financial strain, to name just a few.”

The Quiet Rage of Caregivers Looking after a sick family member can mean putting your own life on hold, often with little recognition or outside support.

NORD takes LA! Join us on the West Coast for our 2024 Living Rare, Living Stronger Patient & Family Forum and Rare Impact Awards.

Learn how you can participate in these convenings and celebrate the rare disease community on June 7-8 at livingrare.org

On the Tuesdays leading up to (coming up on November 28), we're sharing ideas for how you might participate in the world's biggest celebration of generosity! Have other ideas? We'd love to hear about them!

https://www.eventbrite.com/e/caregiver-essentials-advocating-for-your-loved-one-every-step-of-the-way-tickets-706830648497?keep_tld=1&fbclid=IwAR3AqVA-zKUt8kHl7gHNj5MjUjZJesW8busqG_1a_jZ5vqAs2N-W5-kDmDM

Caregiver Essentials: Advocating for your Loved One Every Step of the Way Join us for an inspiring evening discussing actions caregivers can take to advocate for their loved ones!

I haven't reminded everyone for a while but if you haven't inputted/updated your patient history into our Patient Registry database, now is a great time. I was reminded of how important this is from a question on CoRDS page. Data from a community of patients is invaluable. https://hsan1esociety.org/registry/?fbclid=IwAR3UXwHFHUndIlncytXX4-nkSAMPTmIqQWwtDaciVtXxwKCMVR-pQJ1xpXU

Today is Rare Disease Day!! It’s a great day to learn about a rare disease we encourage you to learn about HSAN1E. Please go to hsan1esociety.org

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

2 weeks away!

With over 6000 rare diseases identified HSAN1E is one of the rarest. You can learn more about HSAN1E at our website hsan1esociety.org

📷 FRIDAY FRAME TIME 📷

🙌 A great way of raising awareness and showing your support for is to use a profile frame for your social media!

✨ With many different frames for Facebook, Instagram, LinkedIn and TikTok, show off your best angles in an easy and fun way!

(🤞 Remember first to save your current profile picture to use it after !)

👉 Check out the tutorial on how to create your profile frames and add them to your profile pics NOW: https://cutt.ly/w9tI5Pb

February 28

A huge thank you to everyone that participated in by making a donation to HSAN1E Society.

A great cause for Giving Tuesday. Visit the website and click donate.

HSAN1E Society has come along way in the past several years. We have connected families from around the world who battle this devastating disease. We have helped push forward the research so we can better understand HSAN1E and work towards finding treatments, and someday a cure. There is so much more work to do and we cannot do it alone. By making a donation this you can help us continue the work we set up to do. hsan1esociety.org

HSAN1E Society has come along way in the past several years. We have connected families from around the world who battle this devastating disease. We have helped push forward the research so we can better understand HSAN1E and work towards finding treatments, and someday a cure. There is so much more work to do and we cannot do it alone. By making a donation this you can help us continue the work we set up to do. hsan1esociety.org

Giving Tuesday is next week! Please consider giving to HSAN1E Society this year.