Lottie is a sweet, sassy, and silly 8 year-old little girl with a very rare genetic neuromuscular disease called TBCK syndrome. As of this year, less than 100 people in the World have this diagnosis. The disease effects all areas of her development. Currently she is non-verbal and unable to stand or walk. She is constantly in need of new equipment to help with her development as she grows. Her syndrome also causes epilepsy, to date, Lottie has only had 4 seizures but they were very large, scary and life threatening.
What the disease does not effect is her adorable and hard working personality. She uses giggles, sighs and hugs to bring joy to everyone she comes in contact with. She has many medical and therapy needs. She gets therapy in school but also requires more medically based therapy in speech, physical and occupational therapy as well as aquatic therapy. We, as her parents, work hard to try and support all her needs but it can get very expensive. Research for her disease is as new and rare as her diagnosis, most of it is done at the Children’s hospital of Philadelphia and we are looking forward to treatment options and visits there very soon.
Lottie has a very full life with her parents Neal and Katie, her 7 year-old brother Max, her 1-year old sister Tinsley, and an amazing extended family. She has many friends in the special needs and neurotypical world.
We really believe the sky is the limit for Lottie and that she will continue to develop and grow. And we pray everyday for a treatment to slow the progression of her disease.
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