Ticking Clocks Through a Journey of a Rare Genetic Diagnosis
By Emma Clarke| Published on May 25, 2021 | 10 Minute Read
The clock in the maternity ward where I sat eighteen hours postpartum is etched in my brain forever. The ticking hand, a sonic red colour sliced away valuable time with each movement. Tick, tock, tick, tock. Each single second felt uneasy. I still remember the blue aztec mural that covered the clock face. Sucking the life out of the room. A maternity ward filled with four other new mothers just embarking on their motherhood journey. All of whom were cradling, feeding their brand spanking new babies. I, however, just sat there without my new sugar and spice and all things nice baby girl. Instead she was two floors above me in NICU, having what would be a tough beginning to life. Doctors fighting to clear an "infection" as she was having respiratory issues, along with a long list of other things.
This was nothing like what the baby books told me. I'm supposed to be with my daughter, bonding. Instead I'm expressing into bottles on a hospital bed alone for my baby. So, she stands a fighting chance. Even then I was so naive to what was actually happening. All I could focus on was how cheated I was that I didn't have my baby with me. Queue the tears.
I still think of those other four women to this day. Why did I have to suffer while they all embraced the most special time in any woman's life. What did I do wrong? Did I fail with pregnancy? I must have done something in labour to warrant the issues. Doubt sets in. Worry sets in. Did I cause this?! Especially as the doctors repeatedly asked me and Kourtney's father some absolutely obscene questions. Tick, tock, tick, tock. What is happening here ?! Too much overthinking! My brain is starting to malfunction. BUT, that annoying clock keeps on ticking!
Time flies by! Lets fast forward multiple GP visits, which led to a pediatric appointment. More tests and more ticking clocks. Still no answers to why this is happening to my daughter. Nine months from that moment on the maternity ward. We are yet again in another doctors office with another annoying clock. Tick. Tock. Tick. Tock. "Kourtney Hanford & Parents. Dr Bisht will see you now"........ Drum roll! The moment we finally were waiting for. It's been a struggle to get here, clouded with doubt, fear, unease and some very testing times. But, above all else we have our beautiful daughter making life so much more enjoyable.
And .... wait for it..... Dr Bisht hands a three page document headed Studies into deletion of 10q26.3. Her opening line is:
"We've found abnormalities in the genetic blood test"
Abnormalities?! And finally the clock stops. No more ticking! Time stands still for a while.
In that moment, Kourtney was diagnosed with a super rare chromosome deletion. 10q26.3 deletion syndrome to be precise. Genetic condition. Meaning she has part of her genetic make up missing which is the reason why she has a list of health complications. Some life altering. A Secondary diagnosis of HADDS Syndrome would later follow. All of which can affect general development. The future is uncertain Dr Bisht states. There is not a lot of medical information. This diagnosis explains a lot about what has been happening! However, it has left me with more questions about the future.
For that first couple minutes I understood why Dr Bisht had a sympathetic frown plastered on her face. Then, I really thought about it. I don't want your sympathy. I want answers. I want understanding. But, most of all I want others to really understand the meaning of living and caring for a child that has a rare diagnosis.
We've been living with this diagnosis just a little over two years now. In the time we've learnt so much about ourselves. One thing I absolutely feel passionate about is that extraordinary children that sit in this super rare 1% club living with rare genetic diagnosis like my daughter Kourtney, are included. I really struggle with a society that doesn't seem to have inclusion for all. It's been an uphill struggle to obtain simple support and funding in most aspects of life. Why does it have to be so hard for society to cater for my child's simple needs. Children like Kourtney need acceptance, diversity, understanding, support and awareness. My dream is that others educate themselves, their families and anyone who will listen that any diagnosis does not define that child's ability to achieve in life. Milestones, labels, discrimination, stigma and negative outlooks are a thing of the past when it comes to any child living with a rare genetic condition. It's about believing in our children and trusting that they have an equal playing field regardless of their diagnosis.
Going back to that day in Dr Bisht office, and those opening sentences. Abnormalities. I can assure you there is nothing abnormal about my daughter or any other child whose life may hold a genetic diagnosis. Kourtney is far from "abnormal". She is unique, she is fierce, she is sassy, she is an advocate for this amazing community of children. This diagnosis has only educated us and our little world around us. She has taught us so much in the small amount of time she's been in our lives. Patience, compassion, understanding, determination and most of all love.
Through the darkness of this diagnoses, and all those annoying ticking clocks we've connected with some great support networks such as @unique (Rare Chromosome Disorder Support Group) & @haddsfoundation (EBF3 HADDS Foundation) whom were both a pivotal part in providing the medical knowledge and unconditional support our little family needed. The light was at our reaching point with the services they both have provided. We felt educated and powerful. Ready to take on any challenge that faced us. We have documented our journey @thatkidkoko, we raise awareness, advocate and educate others throughout our journey.
Emma Clarke (Kourtney's Mum)
About the Author
Emma Clarke is Kourtney's mother. She runs the Instagram page, @thatkidkoko. You can learn more about them there. Make sure to give them a follow while you are there!