Olive’s

Story 

Olive is a very social and happy 18-month-old girl from Ontario, Canada. According to her mom, Meaghan, She loves playing with her baby dolls - feeding them and making sure they are nice and warm with blankets. If any music is playing, Olive will be sure to stop what she is doing to dance to the tune! She loves playing dress up, throwing on whatever hat she finds lying around and a pair of sunglasses. Olive is the youngest of 3 siblings. She lights up a room and always knows how to put a smile on her family’s faces.

Variant: c. 978 +5 G > C
De Novo "Splice-site" variant (the mutation occurred near the junction of an exon and an intron.)

History 

When Olive was six months old, her family noticed an upward gaze, which, according to her mom, seemed like a sassy, funny look at first. But as she got older, the upward gaze began to last longer and became more prominent. At eight months old, Her pediatrician admitted her to the hospital for a Stat MRI to rule out a neuroblastoma (Brain Tumor). Thankfully, her MRI came back clear. Next, Olive had an EEG, which also showed no abnormalities. Meaghan explains, "We were basically told there's something wrong, but we have no idea what." Olive started to walk at 11 months old, but suddenly, when she was 14 months old, she couldn't walk without falling and needed assistance to get up. This was worrisome, so she was brought to the emergency room. There, the doctors referred Olive to the genetics team at the hospital, who then did genetic testing as they suspected she had a channelopathy. After four months of awaiting results, her parents were told she did, in fact, have a calcium channelopathy as she had a de novo mutation in the CACNA1A gene.

Olive exhibits language and cognitive delays. At 18 months old, she says four words: Hi, bye, Dada, baba. She has difficulty comprehending what you want her to do or what you are trying to tell her, although she is slowly getting better with that. She has been walking since 11 months old but is unbalanced with a wide gate.

Olive does not like to be held for long and is a "tornado," going from one activity to the next. She has a very hard time being told no or removing herself from a situation she wants to be in. We're unsure if it's related, but she also is a very picky eater.

Therapies 

As Olive was only diagnosed one month ago, she has not started therapy yet but will be starting physical therapy and language therapy soon.

Diagnoses

Olive has ataxia and nystagmus (upward gaze) for the majority of most mornings. This typically lasts from when she wakes up until her nap. Most days, she doesn't demonstrate any nystagmus for the rest of the day, and her ataxia also improves.

For those newly diagnosed

As Olive was just recently diagnosed, her family is still trying to grasp what to expect. Soon enough, they will have some advice for others :-)