Written by Gina Tan, co-founder ofCure CLCN4

I suppose not many people like to think much about the scenario of having a child with a lifelong condition. One that makes your heart break, one that means you will be vigilant at all times and make special arrangements for the rest of your life.

When Daphne was born, I wanted her, almost naively and petulantly, to be a regular baby. Subconsciously, I had had my awesome, but mainstream, mothering experience already scripted in my head. As it turned out, she was not a regular baby. As it turned out, I did not collapse, and my life did not come to an end. To my surprise, I am actually doing well.

Special needs mothering is not for the faint-hearted. It is regular mothering turbo-charged. It is nights of interrupted sleep, continuing long after the child outgrows toddlerhood. It is the juggling of hospital appointments, therapies, government agencies, special needs teachers, and countless hours of late-night research into ways of helping the child. All that in addition to trying to hold down a job or career, give time to the other children, sustain a relationship with the spouse, and every day still putting some semblance of food on the table.

If you look at it from the perspective of an outsider, this life is as awe-inspiring as it is frightening. Now, as I look in on my own life, however, I can only describe it as a rollercoaster ride that completely upended all that I thought I was and that gave me an opportunity to come back all new. It was a version of me that would be more aligned with my real priorities, less stressed about the small stuff, and more appreciative of the little things in day-to-day life. And this was not me putting a brave face on or trying to be a super-mum. It was the only version of me that could stand the chance of surviving, even thriving, through the onslaught. So, the way I see it, I had little choice but to embrace all that life is.

The setting up ofCure CLCN4was a move that I felt compelled to make. At the time Daphne was diagnosed, there was painfully little information about her genetic condition available to us. We did not know how long she would live, what problems to expect, or what sort of lifestyle to prepare for. There was some signal towards speech and learning issues, but the clinical papers available painted a wide spectrum ranging from asymptomatic to severely dependent. It did not help much with future planning. It also did not help with the grieving process, for how do you grieve for something when you don’t even know what it is you’ve lost?

“ … how do you grieve for something when you don’t even know what it is you’ve lost?”

Truthfully speaking, Daphne’s diagnosis hit us hard. I don’t know how we managed to crawl out of the first few years, but what we found ourselves left with was a desire to make sure those years of pain counted for something. We founded Cure CLCN4 not just to find effective treatments for Daphne or the growing group of children with CLCN4 that we got to know and love. We founded it to start a movement Daphne would be proud of. We did it to show up for her, to be her voice in a world that would otherwise not know about her or the children affected by this so-far little-known condition.

Since its inception three years ago, the charity has grown quickly on all levels. From the five families we started out with, we now have over a hundred in our community. We have garnered interest in the scientific world and have so far had two successful scientific meetings where the spirit of community amongst the researchers has been palpable. By the time this feature goes to print, we will have had our third meeting.

From having no effective models of disease, we now have three animal models, with cellular models and specific antibodies that will be imminently available for use in research. Our community has raised thousands of pounds through charitable efforts, and through the hard work and generosity of all involved, we have been able to offer our first research grants to three labs to start on the most urgently needed projects.

Through all this change, Daphne has been at the heart of it all. She is our constant motivator and also our constant teacher. She has taught us that even the littlest of voices can make a big difference. All it takes is consistent effort, patience, and an enormous dose of belief. And like all other changes we have had to make to thrive in our new lives, Cure CLCN4 is a necessary part of our new normal. It is the heart of what our lives are about—believing that the small can be mighty, that curveballs in life come for a reason and should not be wasted, and that big things can only start from having big dreams.

CLCN4 related conditions (or CLCN4 for short) are caused by changes in the CLCN4 gene that stop the gene from working properly. The CLCN4 gene is located on the X chromosome and is needed to help regulate and control brain development and function. Find out more at cureclcn4.org

To share your RARE Parenting story, please contact us athello@rarerevolutionmagazine.com

---