Most of you know, I have been running in the Disney World 1/2 Marathon for the past 7 years with my sister Samantha. And last year, I had the opportunity to run for a cause. I chose to run for the A-T Cure Team, and it’s one of the best choices i have ever made. It is full of great people for a great cause against a terrible disease, and i couldn't have been more proud to put on my A-T Cure Team shirt and run for them. So i am back for year 2, and i hope you’ll consider joining me as we race for a cure to end A-T!
Imagine a disease that combines the worst symptoms of muscular dystrophy, cerebral palsy, cystic fibrosis, immune deficiencies and cancer. Children with A-T are usually confined to wheelchairs by age 10 and often do not survive their teens. Because A-T is a multi-system disease, scientists believe that A-T research will help more prevalent disease such as Alzheimer's, Parkinson's, AIDS and cancer.
Ataxia-telangiectasia (pronounced: ay-TACK-see-uh teh-LAN-jick-TAY-sha) is hard to say and even harder to fight. It’s a multi-faceted disease that affects nearly every aspect of Emmy’s life and currently, there is no cure or means of slowing it down. In case anyone asks you why you’re fundraising for us or what the disease is all about, here are a few basic facts:
A-T is a progressive disease. Children affected are seemingly “normal” until early childhood when symptoms become noticeable- generally around the time they start school. A-T kids typically never come out of the “wobbly toddler phase” of walking/running and usually have slurred/distorted speech. Emmy met all of her milestones as a baby. From sitting up to crawling and from walking to running— you wouldn’t have noticed anything different about her. By the time she entered Kindergarten, though, she began fatiguing quickly and often just looked clumsy as she stumbled a lot. By the end of 2nd grade, she was struggling to walk without holding our hand or bracing herself on objects around her. By 3rd grade (last year), she required the use of a stroller or wheelchair to get around. She is still able to somewhat walk with lots of assistance but it takes a lot out of her to do so.
On top of the muscle control issue, nearly 70% of all A-T children are immunodeficient. We found out Emmy was immunocompromised on the day she was born thanks to some advanced newborn screenings. She began a monthly infusion treatment called IVIG when she was 6 months old and has been receiving it every 4 weeks since then— to date she’s received over 135 infusions. Thankfully, IVIG has kept her very healthy as the drug she receives is a blood-byproduct and it is comprised of a collection of immunoglobulins (antibodies) from thousands of healthy plasma donors. This gives her lacking immune system herd immunity!
And if all that wasn’t already hard enough, A-T children are almost 1,000 times more likely to develop cancer (primarily leukemia or lymphoma) than the average person. The last I heard, approximately 30% of A-T children end up with a cancer diagnosis. And because of the sensitivity to radiation that I mentioned, typical chemotherapy treatments don’t work on A-T kids.
The hardest bit of news to share with you about A-T is the life expectancy. If A-T kids are lucky enough not to develop cancer at a young age, most A-T patients usually die from respiratory failure or cancer by their early or mid-twenties. A few A-T patients live into their forties, but they are extremely rare.
While this is tragic and it’s hard to even imagine for our daughter, the good news is that the life expectancy for A-T patients has continued to lengthen as more is learned about the disease and life-improving therapies are being developed. We haven’t given up hope that a cure will be found. The A-T Children's Project is funding exciting drug trials and research projects that could change everything for Emmy. We also know that hoping there will be a cure is important but BEING that hope is what will make all the difference. Because of its rarity, very little federal funding is ever given to diseases like A-T. We have to rely on the grassroots efforts of friends and families of those affected and people like you who choose to fundraise for our cause. We're grateful you have chosen to join us in our efforts to be Emmy’s hope. You're helping fund research that will one day change the fate of A-T children around the world and that means more to us than we can ever truly express.
If you’d like to learn even more about A-T, be sure to check out www.atcp.org/about-ataxia-telangiectasia/learn-about-a-t/
Thank you for joining us in the fight to cure A-T! If you have any questions about Emmy, A-T, or the A-T Children's Project, please don't hesitate to reach out!
