Hello - Our names are Tom and Kerri Tower and our son is Jake. Jake is 10 years old and was diagnosed at around 8 months. We also have a 6 year old daughter, Allison. Jake was born April 2, 1994 and weighed
5lbs. 4 oz. after what we thought was a normal pregnancy. The only "glitch" in my pregnancy was that his AFP screening test came back slightly high, which the doctors thought may indicate spina bifida. We had high level ultrasounds done and everything appeared normal. After a difficult delivery - Jake's cord was looped around his shoulder and neck - his low birth weight prompted further evaluation by a neonatologist. He determined that his low birth weight, slightly curved "pinky" fingers, crooked toes, and mostly because of the appearance of his genital area (very small and shawled) to be another syndrome called Aarskog syndrome. Being the type that we are we went home a little shocked and began our research. After a few months we were
convinced that this was not the correct diagnosis and approached it with his pediatrician. He sent us for genetic testing and that is when we had our correct diagnosis of xxxxy (or Tetra-X, as they called it.) We were relieved to have a correct diagnosis but also scared to death of what we were told to expect - which frankly, wasn't very much. Jake has way surpassed anything we ever expected. He did not develop in a "text book" way at all, but has met many milestones in his own time. Jake began babbling after his first birthday. We became involved in early intervention and began teaching him sign language and to our surprise once the pressure of verbalizing was off and he learned the signs for certain words the sounds and then the words themselves soon followed. He walked unassisted shortly after his second birthday and after tubes were placed in his ears for
chronic ear infections. Also, during his 2nd year he had surgeries for hernias and undecsended testicles.
At age 3, he began in an integrated preschool program at our public school and with the help of a fantastic speech therapist and the Communication Enhancement Ctr. at Children's Hosp. in Boston, Jake began to thrive. We
began bombarding him with any type of speech aide possible, as speech seemed to be his biggest obstacle. We began working on computers with Boardmaker and Speaking Dynamically programs and then started with assistive communication devices and the same thing happened. Once the pressure was off the words started to follow. At the age of 7 1/2 we stopped using any device and Jake relies solely on speaking! He has difficulty making the "G,J,K" sounds but has found appropriate replacement sounds and once you get to know his patterns you can usually understand what he has to say. If not, he is great at finding a way to help clarify himself. Jake still receives speech therapy 3x/week and also receives PT and OT 2X/week at the public school where he attends an integrated 4th grade program with a full time
aide. He attends a resource room for reading and math (currently at about a 1st/2nd grade level) and homeroom for social studies/science, gym, art, music etc. We do have some "frustration outbursts" as we call them, and are working on ways to help him calm himself, they are getting better and thankfully he saves them for home.
Jake is a great kid with a lot of courage and strength. He is a hard worker at school and has a great sense of humor too. He has made many friends both with and without special needs. I am so glad we didn't just give up when we were handed that outdated medical information upon his diagnosis! We have never lowered our expectations of Jake, just embraced the fact that he will meet them at his own pace! We are certain that he will continue to grow in all areas of his life and continue to bring joy to us and all that know him.
Story Submitted by: Tower80@verizon.net
