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Emmett was born on his due date, August 6, 2019. He was a big, healthy boy and we were excited to bring him home to complete our family of four.

Emmett was such a happy baby, full of smiles, watching his big sister Sophie all the time. I had 2 under 2 and I just remember feeling so thankful because we had struggled for years with infertility with Sophie and Emmett just happened naturally and very quickly. We felt so lucky we had these two perfect, healthy kids.

Emmett wasn’t reaching his verbal milestones so we started speech therapy in November 2020. We thought with Covid, this was just a result. We continued with speech therapy and in 2022 after a session with our SLP we asked for a referral to an ENT as she thought his tonsils looked large and could be impacting his speech. Emmett had his tonsils and adenoids out in December 2022 and we noticed a huge difference with his hearing, understanding and he started to make more noises!

Emmett also had hyperactivity to the point it was difficult to take him out in public. He couldn’t hold hands and walk - he was always on a mission to run. We just chalked it up to having a very active boy, however when we went to change daycares and were told that Emmett was “too active” for them we started to wonder if there was something else.

We had an assessment at Alvin Buckwold and they recommended an official autism assessment. We were able to get an autism assessment earlier through another clinic and in August 2023 our lives changed forever.

In the assessment, the pediatrician noted he was extremely active, however she did not believe he had autism. She gave us a blood requisition form, not fully explaining any more than it was for a genetic test. Of course in the car immediately after, I googled it and my heart dropped as I read “Sanfilippo”, “childhood dementia” and “fatal”.

We decided to do private genetic testing as we would receive the results within 2 weeks compared to 4 months with public genetic testing.

On Emmett’s first day of prekindergarten we received his results. Potentially positive and he had 2 defective genes. The genetic counsellor explained that we had a 30% chance of Emmett not having MPSIIIA and Andre and I would both need to be tested to see if we were each carriers of one of the defective genes.

On the Friday before Thanksgiving weekend we received the confirmation I dreaded but knew in my heart. We broke the news to our family in Nova Scotia and had the conversation that we will keep our heads up, keep living and make all the memories.

Mucopolysaccharidoses (MPS) are a group of inherited lysosomal disorders. The subtype MPS III is referred to as Sanfilippo Syndrome. MPS III is caused by the inability to create an enzyme that normally breaks down and recycles a large, complex sugar molecule called ‘heparan sulphate’. This heparan sulphate accumulates and causes damage to the cells of the central nervous system, including the brain. There are four subtypes of MPS III, each type is caused by a mutation in a different gene. Emmett has a mutation in his SGSH gene (MPS IIIA). There is only one other child with MPS III in Saskatchewan. Emmett has also been diagnosed with a developmental delay.

Since October, Emmett has undergone an array of tests to gather baselines. He is a healthy kid and right now we have no health concerns other than disruptive sleep. There is no timeline with how this will affect Emmett. Each child is different and can be affected differently. Seizures are common and most children start to decline around age 5 or 6. It’s called childhood dementia as over time the child will lose skills such as walking, eating and talking. Respiratory illness is the main cause of death in children with Sanfilippo and the life expectancy is early to mid/late teens. Emmett unfortunately has the more aggressive subtype.

Currently there are no treatments or cure, however there are trials and more studies going on than ever before. As this is degenerative, it is important to try to slow the progression as early as we can.

The medical community surrounding us has been amazing. I wish I didn’t have to meet them but I’m so glad they are by our side.

Our workplaces have been so supportive and we have been so grateful for the outpouring of support from everyone on our GoFundMe. We feel the love from all our friends, coworkers and families, it has helped in this bumpy ride.

We have quite a year of trips planned with our Make A Wish trip to Disney World in February, Toronto and Nova Scotia in the summer and DisneyLand in the fall. Right now we try to keep things as normal as possible for both Sophie and Emmett. We can’t change the hand we are dealt but we can choose how we play, and we will play with love, bravery and laughter.

Emmett is such a beautiful boy. He has big smiles and loves cows. He loves people and taking them by the hand to come play or introduce them to others. Paw Patrol, Blippi and Cocomelon are his favorite shows. He loves playing with Sophie, reading books and singing (fave songs are 5 Little Monkeys and Old MacDonald had a farm). We feel so lucky that he’s here and will take in all the moments we get to have.

You can learn more about Emmett and keep up with our journey on his Facebook page ‘Life With Emmett’

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