It feels funny even writing this title, Special Needs Child, what does that mean? All children are special and have different needs. It might be easier to use the other “label” we have recently received medically fragile/technology dependent to describe my son, Toby.

Growing up in a small urban community of 30,000 during the 70’s and 80’s, you knew most people and while there were some kids that needed a little extra, there weren’t many. Unfortunately it wasn’t till I got married and started coaching swimming with Special Olympics that I became involved with the disabled/handicapped community. Over the 15 years that I spent with the team I learned a lot and made some great friends (some of whom now call my son their friend as well) but I will get into that latter.

Zachary my older son was born healthy and only spent the minimum time in hospital. Even to this day he is overall healthy and has developed normally hitting the developmental milestones by which the doctors measure a child. Almost 2 years later my son Toby was born. This was a very different experience.

Toby was born 8 days early on a Friday the 13th. I had to travel for business and was flying home when the doctors delivered him by emergency c-section. My wife had labored part of the night and my parents had come down to take her to the hospital and look after Zachary. When my wife arrived at the hospital she was already dilated but her water hadn’t broken. The doctors discovered that Toby was sideways and tried to turn him before delivery. The doctors discovered that Toby was in distress so decided to do a c-section with epidural. After they broke her water, the doctor’s lost Toby’s heartbeat and decided that they needed to do an emergency c-section with a general anesthesia. When delivered, Toby was without vital signs and had to be resuscitated. The pediatrician was on the phone with the doctors who did the delivery rushing to the hospital in his car so the anesthesiologist and the delivery room nurse resuscitated him. As the doctors weren’t sure how long he was without vital signs and he was having difficulty breathing, they put him on oxygen and rushed him into the special care nursery.

When I landed at the hospital, I called home expecting my wife to be there only to be told that my mother had taken her to the hospital a few hours before. I then called the hospital and spoke to one of the nurses who had just come on shift. All she would tell me on the phone was that it was a boy and he had been delivered by c-section and I should try to get to the hospital as soon as possible. When I arrived at the hospital, I headed right to the maternity ward expecting to find my wife, my mom and my son there. I was told that my son was in the nursery and I could see him but my wife was still recovering from the c-section. I visited with Toby for a few minutes and then went to see my wife who was just coming out of anesthesia. It was different seeing him, all hooked up to various monitors and on oxygen to help him breath. Later that day the doctors came to see us and discuss some of what had gone on during the delivery and they continued to monitor him in the nursery. My wife wasn’t able to get into see him till later the next day as they didn’t want her tearing the stitches. I made sure that Zachary came in to see his mom and new little brother.

Over the next few days, the doctors continued to monitor him and run various tests including head ultrasounds, CT scans, x-rays and bloodwork. Most times the nurses were really good and would let us know when the tests results were received, but the CT results seemed to take forever to be received. Eventually they said that the doctor was coming up to discuss with us. Shortly before the meeting, an unknown individual showed up in the nursery. She spoke with the nurses in hushed tones and this is when I started to suspect that something might be seriously wrong. The doctor arrived and as there were other parents in the nursery asked us if we would like to step across the hall to discuss the results. As we were leaving the nursery, the unknown woman followed and picked up a box of Kleenex on the way out the door. At this point, I knew we were starting a difficult journey. The doctor and social worker discussed the test results. They showed that Toby wasn’t developing as expected. They indicated that they could do further testing here at this hospital but would have to send the results to a children’s hospital about 15 mins away to have them interpreted or they could see about transferring him to the children’s hospital where all the testing could be done and we would have all the pediatric specialists we might need at our finger tips. This was day 5 after delivery. They suggested that we go home that evening (first time my wife had slept away from the hospital since Toby was delivered) and let them know in the morning.

The next morning we went back and met with the doctors. We felt that it was best to transfer Toby to the children’s hospital and so our 5 week journey there began. During his time there, more tests were done, specialists consulted and he continued to monitor for what the doctors called “failure to thrive”. During this time, my wife lived at the hospital and I tried to work, manage home and spend time with Toby. Zachary got to spend quality time with both sets of grandparents and also got to see his brother. Everyone said that he was continuing to grow but not at the rate which they hoped/expected him too. After a total of about 6 weeks in hospital we were finally able to bring him home. His first official trip out was to attend my swim team’s annual pool party and BBQ. The second was to visit with his great-great Auntie who was visiting from the east coast. Over the next year, he continued to be followed by multiple specialists and at a developmental pediatrician. There were a few minor medical issues which were dealt which including club feet surgery (Tendon transfer bilaterally) at 18 months old and strabismus in both eyes at ?. We were told that genetically there was nothing found on the tests done and that they believed the developmental delays he was experiencing were a result of his traumatic birth.

Toby struggled when he started in school because he didn’t speak. We were able to get him additional resources but the education system was recommending that we put him into a communication program which would help him develop functional communication. At age 6 we did this thinking that this would help him and still believed that it was in his best interests to help him grow and develop into the person he was and be able to communicate with those around him. After 3 years in this program, he was making little progress and we were becoming frustrated with some of the “professionals” who were supposed to be working with him. He had not progressed to using assistive communication devices such as his Ipad to communicate and instead preferred to try to verbalize and attempt to speak. At this point while he was able to function at home he was so far behind his peers at school academically that he wasn’t going to be able to return to a regular classroom and we made the decision to integrate him into a lifeskills class. We met with the teachers, school board professionals and made this difficult decision. Since entering this class he has begun to flourish and began to speak more because he was now with classmates who while they all had limitations, most of them did speak and he picked up on this and did start speaking more and his speech began to improve. This improvement continues till today and he is now able to make himself understood verbally in most situations. We see that while his expressive language continues to lag behind, he does understand (receptive language) is much better. We aren’t sure how much of his surroundings he actually understands but it does appear more than he is able to tell us in words.

About 2 ½ years ago we had a number of bouts of pneumonia and our new journey began. Initially they couldn’t understand why he would get so sick from the pneumonia and eventually determined that he had an immunodeficiency. They began treating this and we noticed some improvement. The doctors at our local children’s hospital tried to do a pulmonary function test to determine what if any damage had been done by the recurrent bouts of pneumonia. Unfortunately he wasn’t able to perform the testing at their location due to equipment issues so he was referred to another specialist at a nearby children’s hospital who gathered information, looked at his chest x-rays, did some further testing and came back to us with the question “Is the PFT really the most important thing here or do we need to find out what is going on and work from there?” We agreed that it was more important to determine underlying cause of the lung issues. We went in for what we thought was a bronchoscopy and CT of his lungs to see if they could identify the cause of what they were seeing in the chest x-rays of his lungs. After reviewing the CT the doctors indicated that he appeared sicker than they had expected and admitted him and wanted to run further testing. Over the next 2 weeks he underwent a double bone marrow biopsy, lymph node biopsy and lung resection as well as the bronchoscopy and bronchial lavage (washing of the lungs). All of these came back inconclusive or not clear. No bacteria or viruses grew in the material from his lungs and there wasn’t any evidence of malignancy so they continued to test and coordinate with multiple specialist. After a month as an inpatient they said, that they didn’t know exactly what was going on but we could take him, they would continue to follow him and sent us home with oxygen to used at night and a high dose of prednisone which they hoped would help clear up his lungs, shrink his spleen which was enlarged and hope to see an overall improvement in his health. They also did some genetic testing as they indicated it had come a long way in the years since had testing done at birth.

Months later the results of his genetic testing came back. It showed that he had a “de novo” genetic mutation. It was called KAT6A and had only been identified in the last 3-5 years. No one seemed to know much about, there was not currently any curative treatment and all they could offer was to treat the symptoms caused by it. Through doing research and getting to know others with this rare genetic diagnosis we have discovered that some of the issues he has had at birth are likely related to this misspelling of his genetic makeup but it doesn’t explain his immunological issues. He continues to be treated regularly for the immunology issues and overall his health has improved. He is getting sick less and we are seeing gradual improvement.

At this time, Toby is the oldest of 8 youth in Canada who have been identified and one of approximately 170 in the world, who have this variation in his KAT6A gene. This is still a very rare condition and while we believe that there are likely more people with variant it is a costly and lengthy process to undergo the whole genome sequencing required to identify it.

While it has had its challenges over the years, I wouldn’t trade the experiences and people we have meet over the years for anything. Toby is a happy, loving young man who is growing up and takes his challenges in stride. When he meets a new doctor and they ask if they can poke or prod him to see what an enlarged spleen feels like or listen to his chest, he is more than willing. Just because the doctors say your child is unique or a conundrum, don’t look at this negatively and think maybe by learning about my child they can help someone else.

Ed