Rett Syndrome – Making a Rare Disease Social

World Rare Disease Day

There is a saying in medicine that “common things happen commonly.” While this is mostly true, many families have loved ones affected by very uncommon medical conditions.

World Rare Disease Day, on February 28th, is an opportunity to learn more about these special patients and their families.

Getting Personal about Rare Disease

My interest in rare diseases began a couple of years ago. At the time,  I was actively searching for pictures of West Michigan to display on my website.  Living and working in Muskegon and Grand Haven,  Michigan, I found myself surrounded by natural beauty, and I wanted to find a way to share that beauty with my viewers.

As I began searching the Internet, I came across the Facebook page of an amazing local photographer,  Jeramie Curtice.  Jeramie has a young daughter, Natalie, with Rett Syndrome.

Rett Syndrome

Rett Syndrome is a rare disease that effects girls, typically at a very early age. Rett Syndrome initially presents with signs of developmental stagnation followed by developmental regression. Disturbances of normal body and limb movements are common as are breathing abnormalities and autistic-like behavior.

Natalie is currently enrolled in a randomized, placebo-controlled trial to see if a synthetic form of insulin-like growth factor-1 (mecasermin) can help stabilize or possibly even improve her debilitating disease.

The study provides the medication to Natalie for free, however, she and her family are required to make numerous trips to Boston. Travel expenses are not covered by the study.

A Chance to Help: Photos for a Cure

Michigan Photographer Jeramie Curtice and his Daughter Natalie – “Photos for a Cure”

When you purchase a photo from Jeramie’s Facebook page, “Photos for a Cure”, you not only acquire a great photograph, your contribution helps fund the family’s ongoing travel expenses between West Michigan and Boston.

Recently, my daughter and I attended a fundraiser for Natalie.  The fundraiser was put on by several other West Michigan Families who have children with Rett Syndrome. These families, it turns out, were initially brought together by Facebook.

Social Media – A Resource for Families With Rare Diseases

Social media can be a great forum where families can find information and support on a wide variety of rare diseases.

Last year, Thomas Lee at  Symplur, wrote an excellent post about his experience coping with Parsonage Turner Syndrome.

Symplur has also created this excellent overview of rare disease hashtags.

On February 28th, think about the people you know in your life with rare or uncommon medical conditions.  Take the time to send them a text, a tweet, or a card. Maybe even pick up the phone, and give them a call. Your efforts  will not go unnoticed, and your support will be appreciated.