Ricki Lewis

Every year near the end of February, Rare Disease Day honors the 30 million people in the US who have 10,000+ rare medical conditions, and those who support them. Events bring the patient, scientific, regulatory, and clinical communities together, to share and discuss novel hypotheses, new data, tentative conclusions, and hands-on information about living with the diseases.

 

Exciting interactions arise at rare disease conferences, at local, national, and international levels.

 

According to the National Organization for Rare Disorders from 2023, "February 28 has grown into an essential annual celebration to engage the community, elevate the stories of patients and families, drive donations, and advance critical resources and innovative research for rare diseases. To learn more and find ways to get involved, visit rarediseaseday.us. Every year, February 28 is "A Day to be Heard."

 

To continue reading, go to DNA Science, where this post first appeared.

The road to naming an unusual collection of unfolding symptoms is called the "diagnostic odyssey" for good reason: the journey takes, on average, nearly 5 years.

 

Worldwide, about 400 million people have one of the 10,000 or so recognized rare diseases, or one in ten people, according to Global Genes. About half are children, and 95 percent of the conditions do not have FDA-approved treatments.

 

In the US, 25 to 30 million people have a rare disease. Ten-year-old Isla Richman is one of them. She has NGLY1 deficiency. Her family shared their story with me in recognition of Rare Disease Day 2023, the last day of February.

 

To continue reading, go to DNA Science, where this post first appeared.

In honor of Rare Disease Day 2022, February 28th, I'm reposting a DNA Science story from nine years ago. February 16th was 12 years since Jane Mervar lost her young daughter to Huntington's disease (HD). Thank you

Jane for always sharing your story! (Updates are in parentheses.)

 

Looking back, signs that Jane Mervar's husband, Karl, had HD started when their youngest daughter, Karli, began to have trouble paying attention in school. Karl had become abusive, paranoid, and unemployable due to his drunken appearance. Karli, born in September 1996, was hyperactive and had difficulty following directions.

 

When by age 5 Karli's left side occasionally stiffened and her movements slowed, Jane began the diagnostic journey that would end with Karli's diagnosis of HD, which had affected her paternal grandmother.

 

Soon Karli could no longer skip, hop, or jump. New troubles emerged. "She had cold sweats, tachycardia, and chronic itching. She fell and suffered chronic pain. By age 6 she was losing her speech and became withdrawn," Jane recalls. Karli drooled and her speech became unintelligible. By age 7 her weight had plunged, and by age 8 she had developed pneumonia three times, due to difficulty swallowing. By age 9 she required a feeding tube, suffered seizures, and would go long periods without sleep.

 

An Adult's Disease in a Child

 

This isn't the way that a disease is supposed to run in families, striking child before parent. HD is regarded as a disease of adulthood, but in fact about 10 percent of people with the condition are under age 20 – they have juvenile Huntington's disease (JHD).

 

To continue reading, go to DNA Science, where this post first appeared. 

“Anticipation .. is keepin’ me waitin’,” sings Carly Simon in her song made famous in a ketchup commercial. But “anticipation” in the genetic sense is just the opposite of Carly’s croon – it means a disease that begins earlier with each generation.

Doctors once blamed patients for anticipation, as if people with sick older relatives could worry themselves into suffering similarly. Then, in 1991, discovery of a new type of mutation explained the curious worsening of fragile X syndrome: an expanding triplet repeat.  Read More