Elise's Story

Elise’s Story by Christina

Elise is the most delightful 4-year-old who just lights up the room with her mega-watt smile. She loves reading, ballet, Gabby’s Dollhouse, science experiments and everything PINK. She lives her best life exploring new places with mama and papa and loves making new friends. Elise happens to have a genetic variant in her CACNA1A gene which has caused congenital ataxia, gross motor, fine motor, and language delay. Elise had a minor head strike event in August last year which triggered prolonged seizures and hemiplegic migraine which resulted in a 9 day stay at the Royal Children’s Hospital.

Our journey as a SWAN Family started when Elise was 9 months old (even though we didn’t know it then). It was during the routine 8-month-old MCH visit, when I answered no to all the milestone questions the nurse asked. I remember the sinking feeling I had when I said “No” 5 times in a row, and in my heart, I knew something wasn’t right. We took the wait and see approach at this point but when Elise scored bottom of the scale for gross motor, fine motor and language in a 12-month-old Ages and Stages Questionnaire at 13 months old, we received a diagnosis of Global Developmental Delay (GDD) from our pediatrician. We had never even heard of this term and our world was completely turned upside down, with confusion, sadness and yet hope that she might eventually grow out of her ‘developmental delays’.

We were immersed into the world of early intervention and Elise soon had weekly physiotherapy, occupational therapy, and speech therapy. Initial investigative tests were negative, and we debated whether to undertake an MRI. We were referred to a clinical geneticist, but Elise’s case was deemed low priority through triage, and we were not even granted to be placed on the waitlist. Eventually our push for more answers came through when whole exome sequencing became accessible through Medicare, but not before going through an extensive standardized test during the start of the pandemic which took over 3 months to complete through a clinical psychologist to prove that she had GDD of at least moderate severity. 4 months after submitting our blood samples, in March 2022, we finally received a diagnosis of a de novo CACNA1A variant that was likely pathogenic. It was then that our genetic counsellor introduced us to SWAN and we started to find a community of families like ours.

In July 2022, my husband Chris was able to attend the Creating Connections In-person conference held by the CACNA1A Foundation in Texas, USA. It was a transformational experience being able to connect with other CACNA1A families and we are now both global ambassadors with the CACNA1A Foundation. Our aim is to increase awareness of CACNA1A and rare diseases in Australia, and to connect with other families like ours. While having a diagnosis has helped our family in a lot of ways, we still don’t know fully what the future will look like for Elise. There is a long way to go for awareness of rare diseases globally and a lot of work to be done in this space to find treatments and cures for our children.

In November last year, Elise hit all her age-appropriate language milestones. She has gone from just taking a few steps in Dec 2021, to being able to walk independently in 12 months. We are so proud of all of her accomplishments and she continues to amaze us with all that she does and says every day. Our family lives by the words “Be Brave, Be Strong, and Never Give Up” and that’s why we are sharing Elise’s story on CACNA1A Awareness Day, 19 March 2023.

We hope that by sharing Elise’s story, we will be able to raise awareness of CACNA1A variants and related diseases in Australia and that it might be an encouragement to anyone who may need it.

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