Katie is about to turn 18 and when she was 10, we found out she was a very rare child. Doctors found out that she has a GRIK2 mutation (gain of function) so rare that at the time, she was the only one with this mutation falling on the gene at this specific spot! Since then, a paper has been written about her which in turn found other kids with this same mutation. We are so thankful for science!

Katie’s global delays started when she was not able to sit up and just continued from there. At the time she was only found to have hypotonia, which really is not a diagnosis, more of a symptom. Then at age 10 they found the GRIK2 diagnosis which affects her motor skills, speech, and affects her physically (never crawled, delayed walking, unbalanced). About a month ago I took her to the doctor because she was clenching her hands and feet more than usual, along with clenching her teeth, and her bite was off.

The Movement Disorder Specialist found that she has dystonia which seems to be the opposite of hypotonia. I am finding that her symptoms somewhat change over time, and seasonally. When it’s allergy season her tongue hangs out and she drools for a month or so and I have to use bibs daily. When it’s not allergy season her tongue is in for the most part.

Katie is a happy kid, sleeps well and does communicate through a few signs, nodding her head, and with her device. She has been getting all of the therapies since she was one, and is progressing with that although it’s slow. She is in a special needs classroom at High School and loves it. She is very social, loves looking at books, and watching musicals on TV. We have hope for her future and are so glad that we have found other families to connect with!