Hello,
My name is Ashley Liufau and my husband, Dave, and I are the proud parents of two little girls—Emmalynn (8) and Kate (5). Shortly after her first birthday, Emmalynn (or Emmy as we like to call her) was diagnosed with ataxia-telangiectasia (A-T). Her diagnosis came as a complete shock to us. We had been doing testing to figure out why her immune system was lacking and ended up finding out that she had a devastating disease that would one day leave her unable to walk, talk, or even eat without struggling or needing assistance.
Emmy’s immunologist sat us down and explained to us that not only was A-T an incredibly rare disease (there are approximately 600 kids living with A-T in the U.S. today) but also that there was no cure or means of slowing it down.
Ataxia-telangiectasia is a neurodegenerative disease that causes a progressive loss of muscle control, immune system problems, and a strikingly high rate of cancer. A-T kids are literally 1000% more likely to develop blood cancers like lymphoma and leukemia but are also extra-sensitive to radiation and therefore cannot receive “typical” cancer treatments.
“Emmy’s immunologist sat us down and explained to us that not only was A-T an incredibly rare disease, but also that there was no cure or means of slowing it down.”
We spent the following year after receiving her diagnosis somewhat in denial of what Emmy’s future would look like. Thinking about our seemingly perfect little girl not being able to run, jump, or play like other kids her age was heartbreaking. Fast forward seven years and realizing that she will require the use of a wheelchair before she can finish elementary school is still a difficult pill to swallow. On average, an A-T child will rely completely on the use of a wheelchair by the age of 10.
Emmalynn is now 8 years old and is in 2nd grade. She is still able to get around on her own for the most part, but she’s very wobbly and usually relies on holding our hands to stay upright and forward moving. She struggles with basic tasks like getting dressed, using silverware and writing utensils, using the restroom, walking up and down stairs, and even sitting upright for long periods of time. Because A-T attacks the entire body, everything requiring the use of muscle is affected from eye tracking to swallowing, standing up to sitting still. She has to consciously put forth effort to control her body in ways that the average person has never even had to think about. In addition to her daily physical struggles, she is also immunodeficient, as 70% of all A-T kids are. She has been receiving an IV infusion to support her immune system every month since she was 6 months old (that’s just over 90 infusions!) and we are thankful to report that the immunoglobulin medication that she receives does a great job at helping her stay healthy!
Emmy is very soft-spoken but equally big-hearted! She is our donut-loving, Barbie-playing girly girl who loves all things Disney/Princess, and of course mermaids, unicorns, and puppies. She’s much like other girls her age in her likes, dislikes, and also levels of sass, but she’s stuck in a body that doesn’t work all that well.
A-T is a complex, multi-faceted disease and, unfortunately, there is still a lot to be learned about it. Due to its rarity, there isn’t much government funding being allocated to study potential cures or even therapies to improve daily life. We have been working closely with the A-T Children’s Project (atcp.org) for seven years now. They are one of the very few non-profit organizations in the world working hard to unite affected families, find life-improving therapies, and fund the much-needed medical research to find a cure specifically for ataxia-telangiectasia. In addition to coordinating and supporting biomedical research and scientific conferences, the A-T Children’s Project funds a clinical center for A-T patients at Johns Hopkins Hospital in Baltimore. The founder, Brad Margus, has two sons with A-T (yes, two–it’s a recessive disease but once you have two parents who carry the affected gene, there’s a 25% chance that their children will be born with it). At the moment, there is a ground-breaking gene therapy trial happening thanks to the ATCP that holds a LOT of potential to stop A-T in its tracks! For the first time ever, there is an A-T child receiving the treatment and she has recently completed phase one with no complications. We are anxiously awaiting the results and have high hopes that it will open doors to a brighter future for Emmy and all children living with A-T.
I want to thank you for taking the time to read our story and consider our cause! Knowledge is power and we’re always happy to answer questions and spread the word about a cause that is so close to our hearts. Again, thank you for your time, and thank you for all that you do daily to give back to those in need!
Sincerely,
Ashley & Dave Liufau
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Meet Emmy and her mom, Ashley
