Editor’s Choice: Stories of Creative Spoonies and Devoted Mothers

Happy Friday, everybody!

This week we have a story about a woman with Dysautonomia and a wide range of interests, a mother who finds strength in a moment of grief, promising trials for Pompe patients, and new research deepening our understanding of Von-Hippel-Lindau syndrome.

Sit back and enjoy this week’s Editor’s Choice.

From Lemons to Lemonade: How Kay Pursues Her Dreams After a Rare Disease Diagnosis

If you haven’t heard of Kay yet, she’s a pretty incredible woman. She lives with dysautonomia, among other rare diseases, loves calligraphy, and runs a blog.

Read about her story here.

Grief, Obstacles, and Hope: A Mother’s Will to Create Choices

After losing one son and coping with his brother’s frightening Batten disease diagnosis, Jo Klein discusses the ways that she focuses on the choices she has control over.

Learn more about this family’s story here.

A New Treatment for Pompe Disease Reaches Clinical Trials Stage

Many Pompe patients have been waiting for this moment– a novel gene therapy is finally in the works.

Check it out here.

Recent Research Into The Nature of Von Hippel-Lindau Syndrome Could Be a Path To New Treatments

Researchers discover a genetic mutation with big implications.

Read about it here.


Do you have a rare disease experience of your own? Share with us here.

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