Written by: Brien Gearin
Our daughter is Cecilia Gearin and she is 6 years old. She was diagnosed with Rett Syndrome in October of 2020 after a 10 month long genetic search to try and figure out what was wrong.
Rett syndrome is a rare neurological disease that affects 1-15,000 female births and affects every aspect of daily life. Ceci is unable to talk, walk without support, and have purposeful use of her hands. It is caused by a spontaneous mutation of the MECP2 gene.
Rett syndrome completely changed the trajectory of our and Ceci’s life. The thoughts and plans we had had for her changed with this diagnosis. She was going to be special in her own way and one that was different from what was going to be when she was born.
While Rett has changed her life and our life as a family, it hasn’t changed the wonderful little girl Ceci is and always would be with or without Rett. She’s present and knows far more than she is able to communicate to us. She is smart, sharp, and has her own little sense of humor.
Being a parent to a child with Rett Syndrome is a unique challenge. The simple things we take for granted like being able to dress oneself, use the restroom, bathe, walk, talk, get her up and down stairs, etc. are all things we constantly need to help Ceci do. Short of medical breakthroughs, she will need this support her whole life.
Some of the biggest challenges are working to keep her engaged in everything we do with our family and staying on top of her therapies, to name a few. With 3 other siblings, it’s a challenge to make sure we engage Ceci in the activities that our neurotypical kids can do. Working to make sure our other kids can learn and understand what Ceci deals with is an ongoing education.
Keeping on top of therapies and doctor visits is a challenge as well. My wife and I have to be diligent in making sure one of us is available to handle these appointments as they’re needed. We’re also very grateful for the help of grandparents who go over and above to help us stay on top of these needs for Ceci.
A typical day starts with getting Ceci out of bed and ready for school. She need to catch the school bus at 7:30 am so at 6:30 we get her out of bed and dressed, fed, (usually a bowel movement, which is important for girls with Rett!), get her her medicine, wheel her chair from the garage to the front of the house, get her bags strapped on and wait for the bus with her. Add 10 minutes to each step vs what it would take normally in this process.
She then goes to kindergarten and receives her combined therapies via the school district and participates in her kindergarten class. We are very blessed to be in a district with an incredible special needs program full of wonderful people who love Ceci and provide incredible care.
When she gets off the bus, we eat a snack and play for a bit before dinner time. Ceci has a big appetite and loves eating! Before long, it will be bedtime and she usually falls right asleep.
There are plenty of days where she’ll have a doctor appointment, equipment fitting, or therapy session at Cincinnati Children’s Hospital. We mix these in whenever they crop up!
The MRA app is most helpful for us for the journal section. It allows us to keep track of Ceci’s Bowel habits, health updates, behavior and her medication schedule. It was particularly helpful in the last month when we had traveled over a weekend and we lost track of who gave her her medicine and when.
It was just nice to be able to look back and know when and where we did it to avoid over or under dosage, which could be bad for Ceci.
To learn more about Rett Syndrome go to https://www.rettsyndrome.org
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