Aurora was conceived via IVF, she was our first child and l when I tell you we couldn’t have been more full of love, joy, pride and elation at the time of her birth I mean it! My pregnancy with Aurora was very smooth, all ultrasounds, check ups and blood work came back perfectly normal. Her birth was without complication and she came out with a full set of lungs ready for life! She was 3 months old when my husband and I went to visit family member’s Jan 1st of 2023 to ring in the new year - they lived about 4hrs away from us. We were so excited to show off our beautiful bundle of joy! Needless to say our joy and happiness would soon be very much overshadowed…Less than 6 hrs into visiting family, Aurora had a seizure. I’ve never seen an adult in person have one let alone a 3 month old baby. I just “knew” that was what was happening so my husband and I rushed off to the hospital. She was seizing for almost 30 min before being administered 2 rounds of Midazolam. We had then got transferred to our local Children’s stollery hospital where we stayed for a week as Drs were trying to find answers as to why she seized. Blood work, EEG and an MRI were carried out. I will always remember very vividly waiting for our little baby girl to come out of the MRI as we were sitting in the waiting room and how long it was taking. We watched as 3 other children had already come out but our daughter hadn’t. This didn’t raise alarm bells at the time but I do remember being anxious and even telling my husband that it was taking too long and I had hoped everything was okay and then we saw (what is now her neurologist team and specialized paediatric) go into the MRI room, then panic started to set in-in both my husband and myself. After another half an hour passed the whole team had come out and we were told our daughter was fine and we could go be with her. What a relief!…that relief however was short lived. As we made our way back into our room at the children’s hospital, two of her neurologists were talking amongst themselves and we hadn’t thought anything of it as we obviously didn’t know them and just figured they were talking Dr “stuff” low and beyond they came into our room to tell us the news that our daughter had Dysgenesis of the corpus callosum. This hit us like nothing I’ve ever experienced: the heartache, the worry, the stress, the questions. The questions “why?” “How?” “Did I do something wrong?” The drs answers were vague and we were told what she has is rare and outcomes vary significantly. We were told we could get genetic testing done to see if answers to “why” this happened would come about. So off to home we went and about a month later we got full gnome genetic testing done on Aurora, my husband and myself. It took 2 months for results to come back and the wait was excruciating… we were online with our geneticist who broke the news to us that our daughter had an ultra rare genetic disorder called “TUBB3”. My husband nor myself had any mutations. This was isolated. What we thought would be the answer to our question as to why she had dysgenesis of the corpus callosum ended up giving us more questions than there were answers to. The worry, the fear, the anxiety, stress, and overwhelming sense of despair for our child was otherworldly. We just wanted her to be happy and healthy. How do we accomplish that? Who do we go to? What do we do now? What if we don’t do enough? How will we know that what we’re doing for her is enough? So many questions we had! So there it began with the endless google searches till 4am, booking physio appointments, Drs appointment, ophthalmology appointments ect…because of her diagnosis Aurora has hypotonia in her hips, legs and feet, optic nerve dysplasia , developmental delay, speech delay, esotropia , balance problems and seizures. At her current age of 16 months, she does not 4 point crawl, or walk. She can walk assisted but because of her condition her movements are quite blocky and abrasive-they aren’t smooth like a neurotypical child’s movements are. However, she catches onto things very easily! She loves any toy that rattles, her current favourite thing to do is close and open our bottom kitchen cupboards, she sits up unassisted ,army crawls, claps, rolls over, fake laughs and coughs and she LOVES playing peek a boo. She does so many things we thought she wouldn’t… It's been a long and really rough road to get to where we are, such as being at peace with her diagnosis and just enjoying her for who she is and not constantly worrying all the time - it’s been incredibly worth it and we wouldn’t change a thing about our rare and special daughter. She’s taught us to have more patience, compassion, perseverance and what true strength looks like. She is such a blessing, she is an incredibly happy child and I could not imagine her being any other way. She’s special and amazing and our love for her is unbounding! We will do whatever it takes to make sure she’s living her best possible life! Whatever that may look like, as long as she’s happy, so are we.
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