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Noah was born on July 23, 2015. I had a typical pregnancy with no signs of any complications or thoughts that I would encounter any surprises upon delivery. As soon as Noah was born he immediately required oxygen and was rushed to the NICU. Upon assessment from the doctors and nurses, he seemed to be struggling with the meconium that he had ingested. He had low sugar numbers and had great difficulties feeding. The nurses seemed to be growing in concern and really couldn’t give a reason as to what or why. As the next few days passed, we learned that Noah had a tongue tie that needed to be released and a chest full of fluid so he would also require a lavage treatment to assist him with clearing out his lungs. It took him almost 12 hours to finally take some milk by syringe and he opened his eyes to look at us for the first time. We stayed in the NICU for 7 days still with so many questions and during that time we quickly acquired a team of doctors. During the last couple of days at the hospital, Noah underwent multiple tests that all came back normal. We were connected with a genetics doctor and she put it simply “we know there is something different about Noah we just don’t know what that is because we have never seen this before.” As we were given the green light to go home, Noah’s sugar numbers had improved and he was eating the minimal amount required. We made the promise to do weigh-ins regularly for the next month to make sure he was gaining weight. We were given a team of doctors outside of the hospital and an immediate referral for therapists.

Now at home, still with no answers and for the next six months have at least 2 appointments every other week between the GP, pediatrician, nutritionist and occupational therapist. During the first few months, we learned that Noah has severe acid reflux and was diagnosed with asymmetric crying facies (which is a muscle in his cheek that will never develop so this will cause his mouth to be a little slanted). His weight was so low he was deemed ‘failure to thrive’. He had feeding issues and was not meeting developmental milestones. At six months we met with the genetics doctor who assessed Noah and still had major concerns so did a blood test that has just become recently available to the public in Canada. It looked deeper into his genetic makeup to see if any abnormalities are found. Going forward we now have multiple specialists involved from Sick Kids, an optometrist, urologist, dietician on top of his GP and pediatrician. During that time a neurologist and cardiologist along with occupational therapist, physiotherapist and speech and language specialists became part of his team.

Summer of 2016 Noah was back at Sick Kids Hospital with a typical cold/flu that hit him extremely hard. We were in the hospital for a week. This is just the first of many future hospital visits for Noah for a typical cold/flu. Doctors had to call a code blue upon our arrival he was so dehydrated. Due to not having a diagnosis made it very difficult for the medical team to assess him properly as his normal was always a little different from a typical child.

Fast forward to November 2016. Noah’s results from the blood test are in. He has a genetic disease called KAT6A. Our genetics doctor looked at me and said it’s a very rare disease and there is very little information on it. It was not recognized in Canada at the time and I was told Noah was one of 10 people in the world with it. All she could tell me was that this was the explanation for everything that we had been seeing with Noah. The outcome of his quality of life was unknown at this time as very little research had been done and what had been done was on children who had not grown up yet. Given a piece of paper with some links to webpages, at home, I was able to find a Facebook group with families from around the world that have family members with the same diagnosis as Noah. Just within the group alone, Noah was 1 of 164 people in the world and 1 of 3 in Canada. This group has become my main source of information and a great way to get support and ask questions. It also gave me hope and a feeling that I wasn’t completely alone fighting a fight I didn’t even really understand.

January 2017 Noah underwent his first surgery at Sick Kids. It was an orchiopexy (to descend testicles) and a Dacryocystorhinostomy (to create a tear duct). He came out of this surgery like a little champ. He was home the same day with no complications. At this time, we were still going to up to three appointments a week to see multiple doctors and therapists. The feeding issue was more under control as we discovered thickening his milk made a big difference and he was steadily gaining weight, but still below the curve. August 2017 Noah underwent his second orchiopexy with success. At this point, there are no more surgeries on the horizon.

Noah has overcome so much in these past few years. We were told by doctors he would not walk if he didn’t sit up by 2 years old and right before he turned 2 he sat up! As of fall 2020, he was able to walk short distances independently. We have been told there is a 90% chance Noah may never talk, but he has said mama, nana, yogurt, and go, so we still have so much hope that one day he will be able to tell us what is on his mind. Once his surgeries were complete, we no longer needed to see the urologist. The optometrist had exhausted all areas of testing and explanations for Noah’s one pupil being as small as it is and decided that it was not detrimental to his heath. His local optometrist monitors his eyesight and Noah now wears glasses for extreme astigmatism and farsightedness, and double vision is being looked at as a possibility. His cardiologist has seen improvements in the hole that was discovered in his heart and that has since closed up so Noah sees him every 4 years for a follow-up. The neurologist had found a mass on Noah’s brain and we were sent to Sick Kids for neurosurgery. They have since found that the mass has decreased in size and no longer poses much concern. We see the neurologist once every 4 years for a follow-up. Noah has graduated from Feeding Clinic at Erin Oaks and is now eating soft table food with a mixture of purees and working on feeding himself. He is still receiving occupational therapy at school and has come very far with his fine motor skills. He continues to work on his skills daily. Noah is still receiving physio at school and he is able to walk short distances independently without his walker. He still receives speech and language therapy at school and is learning to communicate with a device that uses the program Proloquo2Go. He has slowly been hitting the developmental milestones and is no longer considered ‘failure to thrive’ as his weight gain has made it onto the chart. He has also overcompensated for his asymmetric crying facies.

Noah’s quality of life is still unknown at this time. But as he grows and surprises us every day with leaps and bounds in his development, we can only hope that Noah will grow to live a life of happiness and have some independence. His journey has been a difficult one, but also such a rewarding one, and I am proud to have been on this journey with Noah. I know that as he continues to grow there are so many more wonderful things in store for him and so much more that he will learn to do and be able to share with us.

-Noah’s mother Brittany

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