Our “Kit Man!”
My PMS story starts in March, 1993, when my son Kit was 15 months old. Kit was missing his developmental milestones starting at about 12 months. He wasn’t sitting up; he wasn’t babbling/talking; he was crawling, but it was a combat crawl – dragging his feet and almost using his elbows to propel.
At his 15 month checkup, the doctor said we should get tubes in his ears; maybe he isn’t walking, sitting or talking because he can’t hear. He had tubes placed. It actually did help his balance and he began walking with assistance shortly thereafter; however, he still wasn’t talking. The doctor sent us to an audiologist and they suggested having an Auditory Brainstem Response Test. We had that test conducted and it showed that Kit had a mild-moderate hearing loss and he was ftted for hearing aids!
$2000 later, Kit began getting services in Phoenix, AZ through a program called Arizona School for the Deaf and the Blind. He received speech therapy. The speech therapist was concerned with his poor muscle tone and his poor suck-swallow- breathe pattern. So, Kit was referred to United Cerebral Palsy for physical and occupational therapy.
Right around this time, at 18 months, his pediatrician suggested we have a chromosome study done. I, being 25 and a young mother (and lack of Google), had no idea what this test was ordered for. When Kit and I arrived at the lab, the receptionist looked over the doctor’s written order and saw that the doctor hadn’t put a diagnosis on the form. She asked me what we were looking for or trying to rule out. I told her I didn’t know. So, she called the doctor’s offce and asked them and I saw her write down MR – mental retardation, and I almost fainted. Call it narve; call it denial; call it whatever you’d like; those two letters that day, changed my life.
Well, that chromosome study came back normal, as did the next one that was conducted. Those negatives were positives in my mind. They allowed me to never give up hope and to not have anybody else to compare Kit to. We continued to seek a diagnosis and had MRI’s of the brain, EEG’s, blood work for mitochondrial disorders; everything essentially normal, except Kit had mild ventricular dilatation of his brain.
Next step, per the neurologist, was to have a muscle biopsy done to check for MD. That was when we stopped. We weren’t going to allow them to cut into Kit’s thigh, when I knew he was getting stronger not weaker, as would be the case in MD.
We drifted along for years and when asked about Kit’s diagnosis we always said, “Developmentally Delayed, with Autistic- like Behavior”. Until one day, when Kit was 14, a lady at the grocery store asked me if I had ever heard of Angelman syndrome. Next thing I knew, I was calling the pediatrician requesting a chromosome study to look for Angelman syndrome, (now Google was invented!).
Well, that study came back negative; however, the pediatrician suggested we do a full array chromosome study, and that is when Kit was diagnosed with a 22q13.32 deletion. We were ecstatic to have an answer. We soon discovered it was de novo, so we didn’t have to worry about our other son or his children. We attended our frst family conference that year (2006), and were so excited to fnally meet others in the exact same boat.
Kit is now 22 years old. He is 6 feet tall. He weighs 140 pounds and has a metabolism that won’t quit. He has autistic behaviors such as repetitive motions. He is very oral, essentially non-verbal (he has about 15 words – when he learns a new one, he loses an old one), he is incontinent of bowel, loves taking baths and swimming, he loves people and he remembers people from years gone by. He is essentially healthy, although he has arthritis, has trouble staying asleep, and shows no signs of kidney disease or heart/vessel disease. He hasn’t had any seizures that we know about; but we continue to watch for those. His transition into adulthood has been essentially normal. He has mellowed with age and appears to be able to relax, especially compared to when he was young.
We struggle to keep Kit busy, social and active; and it gets more diffcult as he ages to stay in touch with his friends from school. We want him to experience normal activities of a 22 year old man and take him to dances, family weddings and parties. Of course, we worry what the future will hold: Where will he live? Who will care for him? Will he stay healthy? Will he age typically? How long can we care for our 6 foot toddler? How long can we go at this pace and with this sleep deprivation? What happens if we get sick or can no longer care for Kit? We worry about the burden it may place on his brother. This is our reality.