By Sharon King

October 15, 2014

Batten disease: a fatal, inherited disorder of the nervous system that typically begins in childhood. Over time, affected children suffer mental impairment, worsening seizures and progressive loss of sight and motor skills. Eventually, children with Batten disease become blind, bedridden and demented. Batten disease has no treatment or cure and is universally fatal.

Imagine a doctor delivering the news that your child has Batten disease. Almost unimaginable, even for me, and I’ve lived it. In a very few minutes, your life is forever changed. Few of us think about rare disease. After all, rare means “not too many,” and there is comfort in believing rare disease “will never happen to me.”

The statistics don’t support that belief. Rare diseases are defined as those affecting fewer than 200,000 people in the United States. Since there are more than 7,000 rare diseases affecting more than 25 million Americans and their families, they are a significant healthcare concern. Rare disease is everywhere, and the problems of rare disease belong to all of us.

During a Rare Disease Congressional Caucus briefing in Washington, DC last February, Dr. Marshall Summar, Chief of the Division of Genetics and Metabolism and the Margaret O’Malley Chair of Molecular Genetics at Children’s National Hospital, shared that 25% of children admitted to the hospital have a genetic condition (e.g. rare disease), representing 45% of all hospital bills. Rare diseases represent a disproportionate share of healthcare spending; again, that affects all of us.

Taylor’s Tale has learned a lot as a Batten warrior. We’ve supported groundbreaking research, raised awareness and supported legislation that has the potential to move the needle toward greater innovation and a quicker path from scientific discovery to real treatments for patients. We understand the power of unifying our voice with those of other rare disease groups. While each rare disease has its own complexities, many also share similarities, and we can learn from one another.

We have a big vision including the development of a North Carolina Rare Disease Coalition in the coming year. But Taylor’s story and the effort to find a treatment for children like her will always be front and center. Taylor’s Tale enthusiastically embraces the opportunity to serve as a connection builder and an advocate for all rare diseases, but we have a message for Batten disease:

Watch out Batten. We’re still on the warpath, and we’re out to get you!

In hope,

Sharon King

Co-Founder, Taylor’s Tale

Taylor’s Mom