Today I want to introduce you to Taylor! She is 8 years old and has Phelan McDermid Syndrome. (PMS) PMS is a genetic form of autism and is very rare. When Taylor was diagnosed at 18 months she was approx. 1 in 500 or so. You can visit http://www.pmsf.org for more information. She is still only 1 in approx. 7000 in the world even now. We started genetic counseling when we were hitting a dead end trying to diagnose her. Through pretty extensive genetic testing they were able to finally diagnose her with something. Scientifically it is a very small deletion of the tip of her 22 nd chromosome. Taylor has never spoken a word in her life…although I believe with the extensive therapies and hard working teachers and staff at school, we are finally hearing Mama, Dada, and poop! Yes poop! We will take it! She has extreme muscle delay/hypotonia. She does not walk without the assistance of a wheelchair, walker, or adult. She has really made progress in this department this past year. She has a pretty weak immune system and frequently gets sinus and ear infections infections. She was under cardiac care until she was 5 to watch her muscle development in her heart. She overheats very easily because she simply doesn’t sweat like the rest of us. This can be scary because it can cause seizures. Tay has been through a couple of dental surgeries and has had tubes in her ears numerous times. She has a lot of stemming behaviors and you can often find her chewing on her fingers and hand! I list all of these issues that she has and I still consider myself, my family, and Taylor lucky. So many kids with PMS have many other problems that Taylor does not. Taylor is the happiest kid I know despite all of her struggles. She loves her siblings, her peers, and all people in her life. She lights up when animals come around. She loves music and repetative noises. Although she cannot speak, she could hold quite the conversation with anyone who will listen! Her sparkly little eyes will tell her story! She brings joy to everyone that comes in contact with her. She is my INSPIRATION. She has taught myself and so many in our family what perserverance, love, and hard work really are! Who inspires you? Share your story on our blog today.
Until next time,