Editors note: After attending just one NCBRS UK meeting it became clear that Helen, mother to Kyle, had a total understanding of all that it means to have a child with a rare syndrome, the hope & fears, but mostly the isolation parents feel. So, on her return home to Canada Helen & her husband Andrew immediately began working on a parent support website where both existing families and those of the newly diagnosed could find current information and support so no family need feel isolation ever again, rather a sense of belonging. Now all families would like to take this opportunity to thank the founders of this website, Helen and Andrew, for their amazing work on this.

kyle collage2
Now for Kyle’s story (born 1994)

I would like to take this opportunity to share my son Kyle’s story. The question is how do you condense 21 years of unbelievable joy, deep despair, frustration and most importantly hope into a few paragraphs.

Kyle, my first child was born on Jan 1st 1994 weighing 6lbs 12 oz. The last few weeks of pregnancy had been stressful, as I had started to bleed at 30 weeks due to an abruptio placenta, so as a result had to spend the rest of the pregnancy on bed rest. The delivery was normal and Kyle scored 9 on the Apgar scale.
The first signs of any problems was when I tried to breastfeed him. He screamed and was in obvious pain, after an examination by a doctor we were told that he had torticollis. We were reassured that this was a common occurrence, the treatment being daily exercises to strengthen his neck muscles.
Within a week of being home Kyle started to vomit his formula, I was initially told by the pediatrician not to worry as some babies “spit up” often. The problem was that Kyle did not just “spit up” he projectile vomited all his milk. Finally at 1 month he was admitted to Toronto’s hospital for sick children, with severe dehydration and poor weight gain. It was at this point that genetics got involved as we were told that he had dysmorphic facial features. Kyle was admitted for a month stay in order to do a huge amount of tests.
Looking back on this time, I don’t know how I got through those days. I was truly an emotional wreck; nothing can prepare you for hearing the news that your baby is sick and could potentially have a life-changing syndrome. I can remember just sitting for hours, holding him and making promises that at that point I didn’t know if I could keep.

So we spent a month in the hospital having every test imaginable, some examples are EEC, EEG, MRI, bone scans, feeding studies, ultrasounds of every organ, as well as chromosome testing.Every test came back normal. During that visit we also discovered that Kyle had an inguinal hernia, umbilical hernia , hypospadias as well as mild scoliosis.
We went home with a failure to thrive diagnosis as well as being told he had an undiagnosed syndrome. Kyle was put on Cisapride and Domperidone, medications to help with his now diagnosed severe gastro esophageal reflux. Throughout the next few months Kyle had several readmissions due to dehydration, it was decided at 5 months to proceed with a Jejonostomy tube. This was undeniably the best decision,as once Kyle was getting adequate nutrition his overall development improved.

Our geneticist had suggested that we get therapy for Kyle and had referred us to an early interventionist. We began both speech and occupational therapy when he was just a few months old. We were lucky in that they would come to our home, to teach me different exercises and techniques to use with Kyle e.g. using a face cloth to stimulate the muscles around his mouth due to the low muscle tone.
Thus we settled in a routine of overnight j-tube feeding and daily therapies. Kyle began to reach his milestones. He was sitting at 6 months, standing 10 months and walking by 18 months.

When Kyle was 21 months old he had his first seizure. There had been no previous signs of any seizure activity so it was a complete shock. I heard him cry out, when I went to him, he was clearly breathing but in every other way was totally unresponsive. I called the ambulance, once they arrived he was more responsive but extremely sleepy. At the hospital I was told that the seizure was more than likely due to the unknown syndrome and that it was likely he would have more. We were sent home with a prescription for Tegretol. I was a mess; I can honestly say that day was probably the worst day for me ever. I have never felt such fear as I did that day. It is the only day that I have ever thought, “I cannot cope, I cannot do this”, indeed I phoned my Mother crying saying those very words. I was terrified to leave him alone, how can something that looks so life threatening not be life threatening?
Kyle did go on to have 3 more seizures, all very scary; he had to be hospitalized every time as they had developed into cluster seizures. He remained on Ttegretol until the age of 5 when we weaned him off; luckily he has never had a seizure since.

Developmentally he continued to make steady progress, by age 3 he was putting two words together, understanding simple commands such as “Go and get your shoes’. His vocabulary expanded very quickly and at the age of 5 he was speaking sentences.

Toilet training was a challenge, we got him toilet trained through the day but it took until adulthood to get him trained at night.
Kyle was always on the go and had a very short attention span. He was also a “runner”. He would run off at any available opportunity. To him it was a game, he was totally unaware of the danger of this.

Thinking back what stands out most is how happy he was, always smiling, just so pleasant natured. Very social, he loved being around other children.
Kyle started school at age 5, he was fully integrated into a regular classroom, and had his own teaching assistant. Speech and occupational therapy was continued at school as well he had his own I.E.P. Elementary school was amazing for Kyle, he had his own teaching assistant until the end of grade 5. It was their dedication that has led to Kyle being able to read, write and understand very simple maths. Entering grade 6 through to Grade 12, Kyle was in a contained class with other developmentally delayed students. The focus was more on life skills such as cooking, banking, shopping as well as local transit training. Kyle  continued over the years to thrive and achieve far more than we could ever have imagined.
Feeding over the years was probably one of our biggest challenges; Kyle developed behavior problems around food. He would gag and choke on almost any food. Textures were a major issue, even just looking at some foods was enough to make him gag. If we did manage to get him to try foods he would over fill his mouth and then spit it out, as he would start to choke. It has been a long journey; with many set backs along the way. He was always underweight, very small, it seemed as though it would take him forever to gain the smallest amount of weight. We did get him off tube feedings around the age of 12, another milestone that we were starting to think would never happen. Once Kyle hit puberty at around 17 years, like most teenagers he was always hungry. He had a growth spurt and started to gain weight. Today he is 5’5” (165 cm) and weighs approx. 130lbs (58.7kg). I think at 21 years he is unlikely to grow any more in height.

 I went on to have three other healthy children who arguably have been the best kind of therapy for Kyle. We learned very early on that Kyle loved being around other children and modeling their behaviors ,so we used this knowledge as a huge learning tool for Kyle. We got him involved in different children’s activities, such as swimming lessons, summer camps and a bowling league to name a few. For all of these programs he was fully integrated with his peers, we just modified them all to his level. 

Kyle has overcome so much; he lives a very active life and is involved in various community groups. He will always need some level of support. I think though that there is no doubt the future looks very bright for him.

If you are a parent reading this,  just know that you will need to have lots of hope and courage, there will be days of immense sadness, days of absolute frustration at the unfairness of it all, but I can assure you that you will have far more days of overwhelming happiness which will make it all worthwhile.