By Kelly Wilton
February 28 is Rare Disease Day.
A time for everyone to come together to support, celebrate and continue the wheels of change for the rare disease community. It is estimated that 25,000 babies are born with a rare genetic syndrome each year in Australia.
People living with a rare diagnosis often have fewer options for effective treatments and medicines simply because not enough is known about the condition. Patient support groups are set up by parents of children living with rare conditions or the individual themselves. Organisations like SWAN, Jack’s Butterflies, Brainwave and Rare Voices provide support to these families also. Closed parent support groups can be found on FaceBook like the one I belong to – Hemispherectomy Foundation Australia.
When my family set up our Rare Connect page for HHE Syndrome, we never would have imagined that approximately ten years later, we would have a small online support group for us – families that are spread out over the globe with kids living with this conditions. From Scotland, France, the USA, Mexico and Australia, plus everywhere in between!
Mikey, my son has Hemi-convulsion Hemiplegia Epilepsy (HHE) syndrome, a rare epilepsy condition. Mikey underwent a hemispherectomy brain surgery where the damaged half is fully disconnected from the normal hemisphere. The brain damage from the seizures has caused intellectual disabilities and physical disabilities, including low-vision and hemiplegia cerebral palsy.
His twin sister, Jasmine has Wiedemann-Steiner syndrome (WSS) which includes distinctive facial features, growth delay, and intellectual disability. Jasmine underwent open heart surgery when she was 2 years old.
Rare Disease Day is a day for us, and for thousands of others living with other rare diseases around the world, many of who have limited access to treatments due to where they live, or lack of access to the right resources.
It is also a day to celebrate and remember the lives that have fought rare disease but are no longer with us. Cheryl and Tom sadly lost their little girl to HHE Syndrome and have raised much awareness for #FlyHighEdie in their homeland of Scotland.
Rare disease day is about continuing the support of each other, fighting for change and access to treatments. It’s a global issue and we are here to stay!
On this #rarediseaseday2023 we wish you love and strength.
Hemi Foundation Australia https://www.facebook.com/groups/260329374127328
Rare Connect – https://www.rareconnect.org/en/community/hemiconvulsion-hemiplegia-epilepsy-syndrome
