When Jamie was born, we wasted a lot of tears grieving something that we’ve come to learn is a blessing. We were given an unexpected birth diagnosis of Down syndrome. There is a lot of unknown when you have a child with a disability. What will their capabilities be? What will their future look like? The unknown is a very scary thing. However, three years into our journey now, we know that a life with Down syndrome is an amazing one despite all of the challenges.
Jamie ended up being admitted for the first week of his life due to low oxygen in his first few days and eventually light therapy for jaundice. When we finally went home, we thought we were in the clear.
Approximately 50% of children with Down syndrome are also born with a congenital heart defect. At the hospital, chest x-rays were completed and we were given the “all clear” from heart issues. Our pediatrician referred us for an echocardiogram just as an extra safety measure but as there weren’t any immediate concerns, that echocardiogram didn’t take place for two months.
During those two months of waiting, we now know that there were a lot of signs of something being wrong that we should have noticed. There were a lot of days where our son struggled to breathe and we didn’t understand he was struggling. We were even admitted to the hospital at one point for low oxygen and no one noticed the heart murmur. Jamie slept quite a lot and he barely ate – something we just attributed to having Down syndrome as these can also be common issues without a heart defect.
By the time Jamie had his echocardiogram at two months old, he was already in early heart failure. We were finally given a diagnosis of atrioventricular septal defect (AVSD) and referred to McMaster Children’s Hospital. This meant that Jamie had holes between the chambers of the right and left sides of his heart, and the valves that control the flow of blood between those chambers were not formed correctly. He was started on a diuretic medication to help flush his system more frequently and efficiently and Jamie’s case was presented to surgeons at the Hospital for Sick Children.
For the next four months, we worked towards helping Jamie stay nourished and gain enough weight for surgery. Generally speaking, Jamie was healthy. He still had spells of low oxygen but he was a beautiful happy healthy baby. He learned to roll over and had the sweetest smile – along with his incredibly cute chubby cheeks.
When surgery was finally scheduled at six months of age, Jamie had plateaued at 12lbs and was having a difficult time gaining weight. Surgery came and it was an incredibly emotional time. The fear of handing your child over to a surgeon to save their life versus that supposed life saving surgery possibly being the cause of his death is a feeling I will never fully be able to describe.
Jamie underwent a 6.5 hour open heart surgery on April 10, 2018. His amazing surgeon, Dr Haller, at Sick Kids closed the ventricular hole with a synthetic patch and then the common atrioventricular valve that had not formed correctly was reformed and subsequently used to close the atrial hole. After surgery, Jamie had issues awakening from the anesthesia and the neuro department had to be called in to completely reverse his sedation. Once that happened, Jamie woke up and only had minor speed bumps in his recovery. We were able to leave the hospital after only four days. He was a true warrior.
Because of Jamie’s heart, things that weren’t an emergency took a back burner. When Jamie was born, he failed his newborn hearing screening. He had a slew of hearing tests up to the time of his heart surgery but ear tubes to drain the fluid in his middle ear canal was something audiologists wanted to try before they went the route of hearing aids. Due to his heart condition, we weren’t able to schedule ear surgery until after his heart surgery so Jamie lived the first 8 months of his life with moderate hearing loss – something that has likely played into his speech delay now that he is older. At 8 months Jamie had surgery to place bi-lateral ear tubes. Thankfully this is a very quick day surgery procedure. Unfortunately, even with the removal of fluid from Jamie’s middle ear, he still wasn’t able to hear like his audiologist was hopeful would happen. The discussion then began on whether or not he needed hearing aids. After far too long of a discussion and another surgery 11 months later to place a second set of ear tubes, Jamie finally got his hearing aids. We could see right away that the hearing aids were sorely needed as Jamie showed improved hearing and speech almost immediately. Jamie is currently awaiting his 4th set of ear tubes which should hopefully happen this Spring as these do fall out after a period of time and need to be replaced in Jame’s case to aid his hearing loss.
Around a year old, Jamie had quite a few issues with reflux and had to start thickening his fluids so that he was not aspirating while drinking. We also discovered that he has asthma. Due to Jamie’s asthma and his smaller airways due to having Down syndrome, Jamie has struggled with basic germs. He gets sick very easily and has been hospitalized with pneumonia and low oxygen 6 times so far in his life on top of his other hospitalizations. Unfortunately, trials of pulling back from this thickener have not been successful so we will continue to thicken his fluids and investigate other possible reasons for the aspirations. His asthma is now under control and with the aid of thickening his fluids, we are having a much easier time keeping him healthy.
He has also always struggled with sleep quality. We always suspected that Jamie had sleep apnea as this is something common with people that have Down syndrome. Getting a sleep study in Ontario is a slow process as there are long wait lists and covid also delayed the process. So after nearly two years on the wait list, had his sleep study done at Sick Kids and he was diagnosed with moderate obstructive sleep apnea. He also had his fourth surgery to remove his tonsils and adenoids to hopefully help his sleep apnea. For most children, this is a day surgery but for younger children and children with Down syndrome, this requires a short hospital admission. Recovery from surgery went well but unfortunately the surgery did not help and Jamie’s sleep apnea was moved to the severe category. This means that he stops breathing in his sleep more than 30 times an hour. He now wears a c-pap at night to help keep his airways open.
During one of Jamie’s more recent sleep studies, some abnormal brain activity was recorded which led us to begin investigating seizure activity. Thankfully through a sleep deprived EEG we were able to assess that it does not seem that Jamie is having active seizures but it is something we will continue to monitor as the abnormal brain activity persists. This is potentially due to his having Down syndrome but there is no definitive answer.
In addition to appointments with a cardiologist, respirologist, and GI doctor, Jamie sees multiple speech language pathologists, occupational therapists, and physiotherapists to help with things like his speech delay, gross & fine motor skills delays, and hypotonia (low muscle tone). These types of therapies are all very common for people with Down syndrome. Jamie’s heart is doing incredibly well and at the current time, there is no need for additional intervention, though we don’t know what the future may hold.
Though Jamie has gone through quite a bit in his six years of life, we wouldn’t change a single thing about him. Jamie is exactly the person he is supposed to be. He attended a regular daycare until covid -hit where he was quite the celebrity and loved by all. We kept him home to keep him safe through the initial couple of years of the pandemic but has since started school and is a thriving grade 1 student now. Not surprisingly, Jamie has continued his celebrity status at his school and loves bringing a smile to people’s faces.
He is a loving, caring, adorable, intelligent, and hilarious, boy with a heart of gold. His smile is infectious and you’d be hard pressed not to fall in love with him at first sight. He loves art and dancing. He takes two dances classes a week (a mix of jazz, ballet, and tap plus a second hip hop class) and has just started learning how to play the drums. He is looking forward to joining his baseball team over the coming warmer months.
In June 2019 we used some of our Guelph Wish funds to travel to Mexico as a family for some much needed rest and relaxation and in January 2023 we were so fortunate to travel to Give Kids the World in Florida where we were able to visit Disney World, Legoland, and Universal Studios. We are so grateful of the Guelph Wish fund and it’s donors to allow us and families like ours the opportunity to unwind from the challenges we face. These opportunities have given us lasting memories to reflect on during the harder times and give us renewed strength to fight another day.
- Vanessa and Aaron