Guest Blogger Sandy Lane: When my husband and I got married, I thought having children would be part of our "normal life" in the future. Little did I know, 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 1/2, she started tripping and falling. At first, 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, though, we decided to look into it further. Our doctor recognized that Chelsea had some form of ataxia, but wasn't sure which type. (Ataxia is a dysfunction of the nervous system affecting coordination.) After several tests, we found ourselves meeting with the cardiologist at the Children's Hospital of Orange County (CHOC). He shared with us the news that Chelsea had an enlarged heart -- "cardiomyopathy" -- and that because she had this paired with the ataxia, she probably had a disease called "Friedreich's ataxia" (FA). The tests confirmed that she did indeed have FA. FA is a life-shortening, debilitating disease. We were told that most kids don't make it past their 20s, 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. There were many times where, because of her heart condition, she would have to spend weeks in the ICU. I never imagined myself feeling so isolated and alone.
The predictions 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 and has problems with speech, swallowing and weakness. My husband and I help her with bathing, eating and all the 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 me to know that our little girl was at risk. One 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. When we received the diagnosis at CHOC more than 10 years ago, we began searching for information and hope. At that time, little was known about FA. We and other FA families came together and formed a national nonprofit organization called the Friedreich's Ataxia Research Alliance (FARA). FARA is dedicated to the pursuit of scientific research leading to treatments and a cure for Friedreich's ataxia.
The promising news is that researchers are making the necessary discoveries to bring us closer to having 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 fund research all over the world. This year, I will be participating in the Seattle Triathlon as part of Team FARA on August 15.
For more information or to donate, please visit Team FARA.