I'm fundraising for... Stella
The 22nd September, 2022, was the day our lives as we knew it changed forever.
It’s taken months of tears, denial and grief of what could be, what you expect for your child (and what you still, despite the odds, hope for your little one) to begin to accept and move forward with our new normal, and most importantly, Stella’s new normal.
Our beautiful, brave and bubbly little Stella has been experiencing myoclonic, atonic and absent seizures since she was roughly 6.5 months old. The seizures are so quick that the unknowing eye would think, she’s tired, or she’s sassy as she pouts her bottom lip and blinks (she is most definitely sassy though, don’t let the seizures fool you).
But these episodes are just one of an unquantifiable amount of seizures that Stella is having per day of which we are so desperately fighting to control. Stella has a rare genetic epilepsy syndrome which belongs to a group of Developmental Epileptic Encephalopathies.
What we have since found out with the support of our ever growing and wonderful village, including our Physio, our Neuro team at Monash Children’s and privately, and the small (but mighty and growing) community of others living with NEXMIF also know as XLID 98/KIAA2022 is that this disorder, happened randomly and out of the blue in Stella’s very early development in utero. It did not come from Mitch or myself, which was a bittersweet relief when we found this out only a few weeks ago….
The research is telling us is that in girls, this genetic condition can often cause epilepsy to be refractory (very difficult to control). And this is our experience with Stella. She’s on 4 different medications to try and control her seizures, and while we’ve seen maybe a slight reduction, they’re very much still there in very high volumes. And this, of course is concerning as it impacts the way in which Stella can learn and develop. Imagine having your brain switched on and off all the time as you try and go about your day. Gosh, we are so in awe of what she is able to do and what she continues to achieve despite these barriers.
What will she be like? How much support will she need as she grows? Will she ever walk? Will she talk and make healthy and fulfilling relationships? Will she go to mainstream school? Will she be able to drive? Will she be able to get a job or start a relationship and have a family? So many questions we’ve asked ourselves, our treating team and the only answer is that “only time will tell”.
The possible light in the darkness (aside from her delicious cheeks and infectious personality) is that NEXMIF in girls is presenting as a spectrum type disorder. So this means, as the head of Genetics at the hospital reminded us “Stella’s cityscape is vast”, indicating that she has MUCH potential and shows so much promise! Something we’ll hang on to and remind ourselves of on the hard days.
To our knowledge, there are approximately 110 girls and 74 boys (in a global community support group). These numbers are rapidly growing which is of course thanks to the advances in genetic testing and access to this (we’re so very lucky to live where we do and have had free and timely access to genetic testing). When we received diagnosis, Stella was the 96th girl in the global community as of 22/09/2022.
Our Epilepsy Support Worker Katie has been instrumental to us as a family in navigating our new life, as our life was turned upside down by Stella’s diagnosis. Katie not only supplied us with literature, resources and recommendations to support access to the NDIS and equipment to help manage her safety, she also lends a regular ear and shoulder for us when we need. Fundraising like this, helps families like us keep on going despite the challenges and uncertainty that Epilepsy brings.
1300 437 453
donations@epilepsyfoundation.org.au
