By: Emma Jay Clark
From the first thirty seconds of my daughter Kourtney's life, I knew...
I knew she was destined for a journey that most first time parents couldn’t even imagine. This fight or flight mentality was instantly awoken inside of me. I would have to be her fighting voice for the rest of her life.
In the first thirty seconds I glared at her all googly eyed. I noticed she was super still and scarily quiet. I could see her struggling to breathe. It terrified me! In that moment, I calmly communicated to the medical professional that my newborn baby was struggling for air.
Under the surface, I felt like the wind had been knocked out of me, this would be a reoccurring experience on the journey to Kourtney’s diagnosis. I later came to know this wouldn't be the simplest journey. This is not what the baby books had described, or what I had envisioned motherhood would look like. She was whisked away from me, the mother and baby bonding was quickly over. Over the course of the next few weeks things became tricky. Kourtney was held in the NICU of Singleton Hospital Swansea.
The pinnacle moment of her time in NICU could have been a moment of clarity, had we known her diagnosis. However, there was lack of knowledge or what her current medical team would later brand as “medical misdirection. She was eventually discharged and labeled as a child who just had a "tough beginning" to life. She was sent on her merry way with her father and I to be together as a family. We were overjoyed to finally leave hospital and start nesting at home as a new family of three. Personally, I tried to grasp on the new mum life I had been so generously gifted. I was told by so many people that I needed to soak up every single moment. Enjoy it! Stop worrying. Relax. However, something was totally off for me. Unbeknownst to us, she had a rare genetic condition called 10q26.3 deletion syndrome (EBF3 HADDS). This Syndrome attempted to rear its existence for some time, unfortunately, it wouldn’t be until she was nine months old that we would finally discover the truth behind why Kourtney had her struggles so early on in life. ”
"...something was totally off for me. I knew my daughter required further medical attention."
I knew my daughter required further medical attention. I really struggled to get my concerns addressed by professionals. I was labeled as a nervous first time mum. Kourtney needed some time they said. After countless visits to our local GP, one day I refused to leave the practice until another doctor agreed to do an assessment on my daughter. Kourtney was then very limited with her mobility. She never made a sound, a cry was never heard in our home, not even when she was hungry. Kourtney was expressionless. She wouldn't give eye contact, even if I dangled her beloved bottle in front of her beautiful face. She had the tendency to lay flat at tummy time and barely move. The mother intuition was there, even from the very first thirty seconds. I knew my child would require me to step in and fight for her needs to be addressed.
Fighting for your child’s needs, whether it be medically, educationally, or socially is something most HADDS families experience often. Something I’d never change, however it can be a difficult responsibility to carry. There have been many moments of uncertainly as we ride the waves of Kourtney’s HADDS diagnosis. I would question myself Am I doing the right thing? Especially, in those fight or flight moments where I need to be her roaring voice. I choose to stay loud and keep going. I learned this new position I’d found myself in as her mother, comes as part of the parcel of being a HADDS parent. Relentlessly fighting for your child’s needs to be heard and addressed. On the merry go round of emotions while being a HADDS parents, we tend to feel responsible for what has happened, how our child’s development progresses and how they’re viewed and accepted amongst society. It was a rarity to have someone in our shoes to turn to. All these emotions mixed with the lonely feeling of not being able to share concerns with another person who understood was extremely difficult. Kourtney’s genetic team didn’t have answers to the questions we asked. Trying to explain HADDS to people who have never even heard of genetic disorders was painful. Building on this new life can be extremely isolating for families. The choice between fight or flight must be made.
I call this next part of our journey "researching". I wanted to figure out what was in store for us as a family. I began reading medical journals and navigating the trusty internet. Yes, I made a mistake. Google is not a reliable source of information, especially when you’re looking up rare genetic conditions. My recommendation to anyone who is reading this, stay away from the internet! It creates fear and causes anxiety! So, after the madness of google, I still had no idea how this diagnosis would affect Kourtney’s life, envisioning her future aspirations really concerned me. As her mother, I would try to explain to others what was happening to my daughter. The majority of the time, through my tears, I would get sympathetic frowns, super confused faces and those two words I dreaded “I’m sorry”.
I reached out to professionals for support and understanding and came up empty handed. On our little island of rare genetic diagnosis, we set camp. Repeatedly experiencing the reoccurring feeling of the wind being knocked out of me. Defeat was my only emotion, I tried to remain positive for my daughter.
"Repeatedly experiencing the reoccurring feeling of the wind being knocked out of me. Defeat was my only emotion, I tried to remain positive for my daughter."
I felt like I was surrounded by a hundred and one unanswered questions that lurked deep within the waves that surrounded us. We tried to navigate our way through, however I saw the glass half empty back then. I struggled with the acceptance of my daughter's diagnosis. I’m not ashamed to share this.
After what felt like an eternity, a miracle dropped right into my inbox from a Sarah Johnson – email subject labeled deletion information. Someone who we'd never met, on the other side of the world was able to give us a lifeline. Her son had been given the exact same diagnosis. She was able to point us into the direction of the EBF3 HADDS Foundation and the research organization behind it. She turned out to be the walking encyclopedia I’d longed for. She opened a gateway to a community of HADDS families just like ours. All of whom were willing to share their knowledge, experiences and challenges they’d faced through their own unique journey with their children.
Overnight our family had gone from being alone on our island, to a flourishing list of lifelong friendships & connections. We had the support of absolute strangers, but in the most comforting way, a new sense of belonging. Reflecting on this newfound community we were now a part of, I was able to be the most vulnerable I’d ever been on my motherhood journey. I saw things in a new light because of these new connection. The glass is most definitely half full for the foreseeable future. Our little island grew overnight. The waves settled on the shore of our family's future. The lonely feeling is now practically nonexistent for us. Any concern we have, whether it be big or small, there is always someone in this amazing community willing to share their personal experience. This community is one of the most rewarding places to be, it’s a lifeline for families like mine. We have proudly found our place, and here we stay. Within the HADDS community we champion our children, celebrate one another's achievements and support each other relentlessly. That fight or flight mode has official been switched off knowing I have the support of this incredible foundation and all the families we can now proudly call our friends.
"We have proudly found our place, and here we stay."