Here is some of Kristen’s story….diagnosed with KAT6A at age 28, she is 29 1/2 now.  She is a beautiful young woman who has endured more medical challenges than anyone I have ever known.  She is a twin (fraternal), was a preemie, and born hypotonic on the short end of placental discordance.  We never stopped searching for answers as to why she struggled so much and her twin sister never did.

One particularly difficult area of development for Kristen was her speech and language. Kristen did not make any sounds as a baby, deafness was ruled out, speech therapy started at 11 months.  A larenoscopy showed vocal cords were weak and inconsistently responded to sound stimulus.  Oral motor therapy shortly followed. Teaching Kristen to use her tongue and try different food textures (eating had been a struggle since birth.  At birth she lacked the oral motor strength to suck a bottle) was important in helping her develop more oral motor strength needed for speech.  A special pre school with daily OT, PT, and speech therapy was next at age 2.5. Diagnosed then with apraxia of speech.  We taught her sign language to communicate while never giving up on speech.  Kristen entered kindergarten (a special day class for language impaired children)with two words, neither was her name.  Daily speech therapy at school and we continued private therapy twice a week.  The progress was slow, but progress was there.  Kristen eventually learned more words, mumbles at first, articulation poor. Over the years it continued to improve, albeit it very slow.  By the time Kristen left elementary school she spoke short sentences, not necessarily grammatically correct but she was able to communicate verbally her needs and wants (with a little patience getting those thoughts out).  That continued to improve, and private therapy continued, and continues to this day.  Articulation became somewhat clearer, word finding is still an issue, but for the most part Kristen can communicate to even strangers and have them understand her. Will her speech and language ever be normal, no, but her growth still continues to this day at age 29, as does her therapy and her will to communicate with those around her.

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