Mikey’s story (born 1991)
On September 2, 1991 we were blessed with our second beautiful son, Mikey. Mikey’s older Brother, Steven, was born two years earlier, both by Caesarean. With the first pregnancy, I felt great, but during the second, I felt nauseous for the majority of the time. The doctor suggested gravol to alleviate the discomfort, and both pregnancies were uneventful, healthy, and full term.
After Mikey’s birth, we remained in the hospital for close to a week. On the fifth day we were told he had a hypospadias and would require surgery to repair the condition. The operation took place at The Hospital for Sick Children, in Toronto, when Mikey was 18 months of age.
We noticed that Mikey wasn’t reaching all the milestones that his brother had, and were quite concerned. The Doctors at the time, assured us Mikey was just a bit slower in developing, and there was nothing to worry about.
At 14 months of age, Mikey had his first seizure. We didn’t realize it at the time, as his face was just twitching like he was dreaming, but the twitching didn’t stop. We called an ambulance and he was taken to the hospital.
The first day in our local hospital, Mikey had 9 seizures, each of which got progressively worse. At our insistence he was transferred to The Hospital for Sick Children. The following week saw Mikey with over 100 episodes, considered cluster seizures, and due to his age, the doctors were trying to determine the best course of medication to control them.
During his first hospitalization, over a two week period, Mikey underwent a multitude of tests to determine his genetic profile and developmental level. We were provided with contacts for professional early intervention therapists. We were fortunate to have someone to come to our home and show us how to work with him. Mikey had a difficult time eating due to his texture aversions, and the Feeding Clinic at Oshawa General Hospital gave us many options to help him eat a larger variety of food. Mikey will now eat all but the chewiest of foods. He loves soft foods, crunchy foods, and loves to eat salad. Mikey sat up independently, at about 16 months. He only crawled in the combat style, never up on his hands and knees. He began to walk at about 26 months of age.
Mikey was followed by Genetics for many years and endured a number of tests. We have to keep in mind the results provided by Genetics over the years were the best available, given the state of the Science at that time. Most results came back normal, with exception of what Genetics referred to as “dysmorphic features”. Originally we were told he more than likely had an offshoot of Coffin Sirus Syndrome, as he presented with a number of traits associated with that diagnosis. He was officially diagnosed in 2014 after a genetic test sent to Germany returned positive results for Nicolaides Baraitser Syndrome. He is currently one of the oldest individuals that we know of who is officially diagnosed with NCBRS.
Over the years, Mikey was hospitalized a number of times due to his seizure disorder. He also had croup every winter for 4 years (ages 4-7 years). At the age of 7 Mikey had his tonsils and adenoids removed, and tubes put in his ears. Due to uncontrolled seizures, it was suggested a Vagal Nerve Stimulator would be beneficial, and that implant was done when he was 12 years old.
Mikey has fallen down stairs, endured drop seizures, broken his leg, put a tooth through his lip, split his forehead open, and broke his nose, all due to seizures over the years.
Mikey also has scoliosis and it seemed to be stable until he hit 18, when it got worse. In January 2010 he required an eight hour surgery in which he had a titanium rod secured to his spine, and has been doing very well since.
Another piece of the puzzle is Mikey’s extreme tolerance to pain. It is nice that he doesn’t suffer as much with injuries, but it worries us when it comes to illness or disease. We are concerned that he won’t be able to tell us if he has pain from gallbladder, appendicitis etc…
We are dealing with yet another challenge now, as Mikey has lost the sight in his right eye, and the left eye is diminishing. We originally thought it was Glaucoma caused by one of his medications, but the Ophthalmologist ruled that out. We have now seen a Neuro Ophthalmologist and are currently waiting for testing to determine the reason for his vision loss.
Now that we have shared many of the challenges our Family has faced over the years, we have to tell you what a wonderful gift Mikey has been to us, and everyone that takes the time to meet him. Mikey loves life and loves to laugh. His favourite show is “The Wiggles”, and he watches the show intently for the music and singing. Mikey is non-verbal, but will try to sing parts of songs, and will stand in front of the TV and dance, or couch dance if he wants to lie down. He is thrilled when he hears “Happy Birthday” or “The Eensy Weensy Spider” songs. He adapts to most situations, and loves watching and studying the people around him.
Mikey loves interaction with his family and our friends. It is rare for someone not to be sitting with him, holding his hand, or having their arm around him. He enjoys flipping through picture books and having the pictures identified by us. Mikey loves the water (if it is warm) and loves swinging on the three seated swing. We have been very lucky with his school programs and are currently waiting for an adult day program which will be starting in the next month or so.
Mikey and his brother are the best of friends, and enjoy playing with one and other. They have back and forth physical matches, like any other brothers. Steven takes good care of him and has chosen to be as involved with his care, decisions, and responsibilities as we are.
Because of Mikey’s age we are hoping to offer as much information as we can to assist you on your journey with your special individual with NCBRS. We will update you with more information as it comes available.
Jon and Phyllis Reed