Julie Stewart and Kim Fishman are sisters and best friends. Kim’s daughter, Emily, has Rett Syndrome, so they decided to raise awareness and funds for a cure through their business, OrangeTheory Fitness.
“Our Orangetheory Fitness studios have played a huge part in raising awareness and funds for Rett Syndrome. We raised more than $13,000 previously, and by the time this article comes out, we will have had another fundraiser in April. Our members have been incredibly generous and are always asking how Emily is doing. It's incredibly humbling, and we feel very lucky to have such caring members.”
Kom noticed that Emily's development was becoming delayed during her first year. She started to receive physical and speech therapy but was still falling behind. Kim took her to a neurologist, but they could not find anything wrong. He then suggested they see a genetic specialist, and they were able to diagnose her with Rett Syndrome after a blood test when she was 19 months old.
"It was one of the most devastating days of my life," Kim says. "Receiving the diagnosis of Rett Syndrome and watching our daughter, who could crawl and say a few words at one time, lose those abilities, has been extremely difficult for our family. She needs total care and can take time away from our son, Daniel, 11. He tends to get sad sometimes since she is his only sibling, and he doesn't have any other children in the home to play or talk with. It can also be isolating having a special needs child since many times social activities are planned around children's events, and if your child isn't participating in any, there isn't very much opportunity to be around other families.
"I've learned that I have way more patience than I ever thought I had while caring for and loving Emily. I also had to learn that I am her voice and to be physically and emotionally strong for her. Finally, I've learned what true, unconditional love is, and I thank my lucky stars every day that I am fortunate enough to experience that from Emily."
About the Diagnosis
Rett syndrome (RTT) is most often misdiagnosed as autism, cerebral palsy or non-specific developmental delay. There is a simple blood test to confirm the presence of the MECP2 mutation; however, since we know that the MECP2 mutation is also seen in other disorders, the presence of the MECP2 mutation in itself is not enough for the diagnosis of Rett Syndrome. Diagnosis requires either the presence of the mutation (a molecular diagnosis) or fulfillment of the diagnostic criteria (a clinical diagnosis, based on observed signs and symptoms) or both.
For more information, visit RettSyndrome.org