• Care4ASH1L

Jack's Journey - Canada

Updated: Mar 9

Parenthood, the most challenging yet rewarding experience of an individual’s life. It is full of twists and turns, ups and downs, but no matter what it is built on a foundation of unconditional love. I remember the early months of my second pregnancy being full of optimism as I prepared to bring my newborn child into this world.

I had an incredible midwife of whom I met with on a regular basis, I had a husband who offered me endless support and assurance and a daughter eager to meet her baby brother. Just like my previous pregnancy, I was doing everything in my power to ensure this pregnancy would go smoothly.

Due December 30th, 2013, Jack, my newborn son decided to surprise us and come into this world three weeks premature. Words cannot describe the feeling of euphoria a mother experiences when she holds her newborn baby for the first time. As I looked into his sweet little eyes, I saw the whole world ahead of him and everything else seemed to melt away.

Although we experienced some complications during childbirth, after a prolonged period in the hospital, the doctors allowed us to take baby Jack home. Little did we know, this was only the start of a long road ahead. Almost immediately, we started to notice peculiar things manifesting in Jack and at about 10 months of age we really started to notice that he was not progressing through the typical developmental milestones of a healthy child. He had no interest in eating, was vomiting on a regular basis, displayed irregular sleep patterns and physically seemed to be developmentally stunted. By the age of one, he had yet to even stand and was still only able to take formula. From the moment we recognized these irregularities, we decided to do everything in our power to get to the bottom of it. Not only were we seeing a physiotherapist, occupational therapist and speech therapist on a weekly basis, we found ourselves travelling hundreds of kilometers to connect with complex feeding teams, pediatricians, geneticists, gastrointestinal and biochemical specialists, and neurologists from around the country. We did X-rays, liver biopsies, scopes, MRI’s, and multiple other assessments but everything seemed to come back “normal”. Despite our best efforts and thousands of dollars, we were left with no explanation as to what was going with Jack.

In 2016 we participated in a genetic study at the CAUSES research clinic in BC Children’s Hospital aimed at providing genome-wide sequencing for children and their parents who have complex, undiagnosed disorders who have been unable to obtain a diagnosis through standard testing. It was 2018, after years of waiting, that the researchers and geneticists were able to provide us with a formal diagnosis. Jack was diagnosed with a genetic mutation in his Ash1L1 gene. Finally, we had an answer and were determined to do whatever we could to move forward.

This disorder is one of the rarest in the world and doctors believe that Jack was one of ten people to have formally received this diagnosis. With such little research done on this mutation there is barely any information or resources available to assist with individuals and families affected by this condition. Today, we are navigating through this difficult path, striving to do anything in our power to learn more, raise awareness and tell Jack’s story in case there is somebody else out there looking for answers.

This condition has been extremely hard to understand, and because a mutation in the ASH1L1 gene can have so many systemic effects, it is hard to pinpoint what exactly this looks like in each person because it can manifest differently in different people and to different magnitudes. For Jack, this condition has affected his speech and communication, gross and fine motor skills, ability to eat and ability to cope in environments that are over stimulating. As a result, he becomes easily overwhelmed, anxious and highly sensitive to sound. While he is able to read non-verbal cues and body language easily, his inability to express himself triggers emotional responses that he is often unable to control, resulting in situations where he becomes overly excited or overly-remorseful when he feels as if he has done something wrong. This makes menial tasks and everyday life that much more challenging for Jack and our family. Despite it all, we are determined to make forward progress for our family and the collective knowledge of humanity.

Everyday we have our obstacles, but we find a way to overcome them and consciously choose to focus on all the incredible things Jack has brought to this world. He is one of the most loving human beings you will ever meet and his adoration for people and the human connection has the capacity to light up any room he is in. Despite his challenges, his resilience and enthusiasm to get involved in anything that is going on around him is an inspiration to anyone he meets. He has hopes, dreams, and aspirations like any other child and we only hope we can provide him with the tools and resources to make them all come true.

This is Jack and we love him endlessly.