Her daughter has an incurable disease called Friedreich's Ataxia ... but this mom won't give up fighting for her little girl.
Guest Blogger Sandy Lane: When my husband and I got married, like many couples, I thought our future of having children would be part of our "normal life." Little did I know that Steve and I each carried a genetic flaw dramatically increasing the odds of us having a child born with a rare, devastating, incurable disease.
Chelsea was born a normal, healthy baby. However, when she was 4 ½, she started tripping and falling. We didn't think this was anything out of the ordinary. After all, kids can be clumsy. After several months of watching her get scrapes and bruises, we decided to look into it further. Our doctor recognized that she had some form of ataxia, but wasn't sure which type. After several tests, we found ourselves meeting with the cardiologist at CHOC. He shared with us the news that she had an enlarged heart, "cardiomyopathy," and paired with the ataxia, she probably had a disease called Friedreich's Ataxia. The tests confirmed that she did indeed have Friedreich's Ataxia, also known as FA. FA is a life-shortening, debilitating disease. We were told that most kids don't make it past their 20s and and that Chelsea would soon be wheelchair bound.
Over the course of time, because Chelsea 's immune system was so weak, she was prone to every infection that came her way. After every cold or flu, she would end up dehydrated and we would find ourselves at CHOC Hospital . There were many times that because of her heart condition, she would have to spend weeks in ICU. I never imagined myself feeling so isolated and alone.
The truths about Friedreich's Ataxia have come true for us -- Chelsea is now in a wheelchair. She's had several surgeries to correct her severely deformed spine and feet. She is also now blind, battling pre-diabetes, has problems with speech, swallowing, and weakness. My husband and I help her with bathing, feeding, and all other activities of daily living.
The scary part of all of this is that it can happen to any one of us ... one in 100 people are carriers of FA. Carriers do not have symptoms of the disease so there was no way for Steve and I to know that our little girl was at risk for this disease. 1 in 50,000 Americans have FA. It is very isolating, frightening and lonely dealing with a rare and untreatable disease. FA has changed many things about our lives and brought many emotional, financial and social challenges.
My husband and I were determined to do everything possible for Chelsea and others with FA. More than 10 years ago when we received the diagnosis at CHOC, we began searching for information and hope. At that time, there was little known about FA. We and other families came together and formed an organization called the Friedreich's Ataxia Research Alliance, also known as FARA.
FARA is a non-profit organization dedicated to the pursuit of scientific research leading to treatments and a cure for Friedreich's Ataxia.
The promising news is that the researchers are making the necessary discoveries to bring us close to treatments and finding a cure. But, we are at a critical stage, which requires millions of dollars to fund drug development and clinical trials.
I've done numerous fundraisers over the years for FARA to increase awareness and increase funds for research all over the world. This year, I will be participating in Ride Ataxia III. The ride will travel 200 miles in four days. The mission of Ride Ataxia is to educate the public about Ataxia by drawing attention through acts of physical endurance. This was a very difficult decision for me to make. Chelsea opens her eyes every morning confronted with a new day of challenges and frustrations. If she can do it, I too can wake up to challenges by signing up for this bike ride. When I see what Chelsea has to endure each and every day, I can suffer through some sore muscles to help my little girl and others who have FA. This is a HUGE challenge for me. I will continually be reminding myself that my sore butt is nothing in comparison to what Chelsea has to go through each day.
To make a donation to Ride for Ataxia, visit Active Giving.