Epilepsy is one of the most common and well-known neurological disorders out there, affecting one in approximately 200 children. However, what many people may not know about the condition is that there are multiple types of epilepsy, and some are incredibly rare—just ask four-year old Mikayla.
To recognise Rare Diseases Day today, Mikayla’s dad Jason shares his experience of navigating his daughter’s rare condition, Dravet Syndrome. Dravet Syndrome is a lifelong form of epilepsy that occurs in the first year of life and results in prolonged and frequent seizures, behavioural and developmental delays, as well as other issues relating to speech, movement, balance, sleep, nutrition, and chronic infections.
Mikayla’s care at The Royal Children’s Hospital (RCH) began in 2018 after she began experiencing multiple severe seizures—at just eight months old. Some would last up to 30 minutes and would not stop without medical assistance. This also affected Mikayla’s breathing, which on one admission on New Year’s Eve, saw her admitted to the RCH’s Paediatric Intensive Care Unit.
“It was after admission on New Year’s Eve at nearly 12 months of age that Mikayla started showing significant development delays relating to speech and mobility. After consultation with departments across the RCH including General Medicine, Neurology, Genetics and Allied Health, Mikayla was diagnosed with Dravet Syndrome,” Jason explains.
An extremely rare condition affecting between 1 in 20,000 to 1 in 40,000 people, approximately 80 per cent of cases are caused by a SCN1A Gene mutation. However, in Mikayla’s case, her condition is the result of a rare variant of the PIGG gene. Treatment options for this condition are limited and medicine resistant, which means Mikayla’s medication has to be regularly reviewed so seizures can’t break through the medication’s protection.
However, frequent, and severe seizures are not the only challenges Mikayla contends with.
“Any seizure Mikayla has puts her at risk of additional developmental delays. Previous seizures have seen her lose her ability to talk. It has taken extensive therapy to get to where she is now, but she still relies on a mixture of verbal, Auslan sign language, PODD communication book and pointing to communicate,” Jason said.
Since the PIGG gene variant was only discovered in 2016, research on children with this variant is new. How children with this condition will progress into adulthood is not yet known, and this means that Mikayla’s future is uncertain.
Advice from families in similar situations, as well as seeking initial support from the RCH’s Allied Health Department proved extremely helpful for Jason and his family.
“Speak to your treating team not only about how to medically manage the condition but how to get other supports for your loved ones. Ask for a referral to the Allied Health team to get additional assistance. Our team assisted us in the provision of therapies, working with NDIS for better funding to meet the needs of our daughter, and supporting and educating day care and kindergarten staff so Mikayla doesn’t miss out on education or social opportunities,” he said.
“A huge amount of support and education has come from finding people in similar situations on social media such as Facebook groups for Dravet Syndrome or by connecting to support networks such as the Epilepsy Foundation of Australia. Of course, teams at the RCH, Ambulance Victoria and other community health organisations have also been amazing.”
For Jason, Rare Diseases Day is a great opportunity for the public to learn about rare diseases they may not have heard of, as well as how to respond to them within the community.
“Everyone would have heard about epilepsy, but they probably wouldn’t understand that there are many types of epilepsy and seizures. If there is one thing I can do to support my daughter and others like her, it is to raise awareness of epilepsy and specifically epilepsy first aid. Having a basic understanding what first aid you can provide someone having a seizure is so important, I’d encourage everyone to view the Epilepsy Foundation website.”
“Knowledge of rare diseases increases support for people dealing with the disease, opens more opportunities for research or funding and helps gain momentum for approval to access new medicines. It also gives families like mine a voice to be heard, to educate others and to build a more supporting, caring and understanding world for my daughter Mikayla.”
To learn more about Rare Diseases Day, visit the website: https://www.rarediseaseday.org/