Tuesday, February 23, 2010

World Rare Disease Day and the Global Genes Project

World Rare Disease Day is this coming Sunday, February 28. Please join the Global Genes Project and people all over the world by wearing jeans this Friday to show your support!

The Global Genes Project, an initiative of the Children's Rare Disease Network, is a grassroots effort that was inspired by one rare disease parent advocate in 2009. Its main goals are to enhance awareness of rare diseases and support the millions of children and adults who are affected by them.

Approximately 7,000 rare diseases affect more than 30 million people - 75% of which are children. Batten disease is classified as a rare disease - which means that it doesn't garner nearly enough funding for crucial research or support services for affected families. The life of even a single child is priceless, but there are children living with Batten disease all over the globe. Please help us save every last one of them.

Wednesday, February 17, 2010

New Link Between Alzheimer's and Batten Disease Discovered

1. The body is an intricate network of systems and processes that all, somehow, work together to make us what and who we are - controlling everything from the most basic life functions to what we dream of, who we love and when we cry.

2. Any one of these systems or processes can break or malfunction - in a single moment on a fateful day, over many weeks, months or years or before we are even born, when the body's instructions are still being written.

All forms of NCL, or Batten disease, fall into a group known as lysosomal storage disorders, a group of about 40 diseases caused by a lack or severe deficiency of a lysosomal enzyme. Lysosomes function like garbage disposals. Basically, waste material is sent to lysosomes to be processed by lysosomal enzymes. If these enzymes are missing, the waste material builds up over time, and the cells get jammed with waste.

So essentially, children who suffer from Batten disease are destined to die young all because of a clogged drain.

3. All of the body's systems and processes are intricately entwined - and connections exist between many different diseases affecting different groups of people.

Two talented researchers, one of which is well-known in Batten disease circles, have invented a novel way to approach Alzheimer's disease - a progressive brain disease that affects as many as 5.3 million Americans. Through a series of experiments, Fred Maxwell, PhD, of the Weill Cornell Medical College, and Peter Lobel, PhD, of UMDNJ-Robert Wood Johnson Medical School, identified the administration of CLN2 (also known as TPP1), the enzyme that is missing in children with late infantile Batten disease, as a promising treatment for Alzheimer's. To learn more, click here.

We'll keep tabs on the ongoing development of this important work. In the meantime, I hope that the research and medical communities and the general public will not forget the children who desperately need enzymes like CLN2 to survive their brave fight with Batten disease.

Tuesday, February 9, 2010

Three Years

Tonight marks the three-year anniversary of Chapter One, the event that started it all for Taylor's Tale. On the night of February 9, 2007, less than seven months removed from Taylor's crushing diagnosis, my family told our story publicly for the first time to about 160 guests in the home of two very kind friends, Leslie and Bruce Schlernitzauer. As we turned the last pages of Chapter One, the people there to share it with us joined the fight to cure Batten disease by donating nearly $40,000 to the cause. I still remember the feeling of hope that washed over me as the last guests departed and I discovered the extent of the evening's success.

Three years later, we're a 17-month old public charity. Seven of the dedicated women who helped make Chapter One happen - who were there starting with the very first steering committee meeting - sit on our board of directors today. The research project that was launched as a result of Chapter One is in its third year of funding and making exciting history in the effort to cure infantile Batten disease. Taylor's smiles and laughter still brighten the days of those who know and love her. And we are still fighting. Whether you've been with us from the very beginning, have stood by us in the past or have yet to write your own chapter of Taylor's Tale, the mere fact that you're reading this now helps me BELIEVE for the future.

Click on the links below to read other historical Chapter One-related posts and view photos of the night that inspired a movement.

Monday, February 8, 2010

Global Genes Project

A new project led by the Children's Rare Disease Network has been established to raise awareness of rare diseases that affect children, such as Batten disease, and promote equal access to lifesaving treatments for those children. Learn more here.

Saturday, February 6, 2010

My Birthday Wish

I'm turning 28 on March 1, and I have just one birthday wish. Please consider making a gift to Taylor's Tale, the nonprofit organization I helped found in honor of my younger sister, Taylor, who has infantile Batten disease. Your gift will help us find a cure for children like her. Thank you in advance for your support!

To grant my birthday wish via Facebook, click here. Otherwise, you can make a donation using PayPal on our Web site.

Monday, February 1, 2010

What Disability?

Watch this video about a father-son team in the University of Louisville marching band for a six-minute primer on determination, attitude and love. I understand this father's dedication because I see it in my parents everyday; I understand this son's perspective because I see so much of my sister in him.

Everyone has a gift; we must only find the courage to use it.