From a mother to her son: To our beautiful rare child
By Renee Swannack (image by LJM Photography)
From the moment we knew you existed, we dreamed of all of the amazing opportunities that lay ahead of you. Your first steps, your first words, your first day of school, your first driving lesson, your first love…
We were like any other parents to be, naïve and innocent and dreaming of what kind of adult you would grow into, what treasures would await you…
When you were born you were a picture of perfection. You began having unusual but subtle symptoms and a team of paediatric neurologists couldn’t pinpoint a cause or explanation. Diagnoses were discussed and were quickly overlooked as test results came back negative. Like peeling back layers of an onion, I Googled your symptoms, poured over research documents and forums, searched for an answer, an explanation, a glimpse into your future, a cause, a cure…
Then the seizures began. The rarest and most detrimental form. Suddenly things shifted – we had a label for those seizures, we had statistics and outcomes, but still no cause or real diagnosis…
Then you stopped reaching your milestones. Other children your age began crawling, walking and talking while your delays became more obvious. My innocent, naïve dreams for your future began to slip away. Doctors began diagnosing other peripheral problems; hearing and vision impairments, failure to thrive, global developmental delay…
Then the gene testing began. Would we receive a result? Had a genetic cause even been discovered? Would there be no result, and could you be one of those anomalies who just miraculously grows out of all of this?
What information would a diagnosis even give us? Is this hereditary? Then came the call from the geneticist, your results had arrived…
They had a diagnosis. A name. A gene discovered within the last few years. One study and a handful of other people with the same diagnosis with a spectrum of outcomes, spread around the world. Facebook parent support groups for your condition- and another for the parents of rare children.
Suddenly we were no longer alone on this journey and had found other amazing parents who had walked this path before us.
We have no idea what the future holds for you. Your low immunity has us on a first name basis with doctors and nurses in the paediatric intensive care unit; a simple viral infection sees you hospitalised for weeks. With this uncertainty, you’ve gifted us with the beauty of living our lives day by day, to take a moment to soak up every smile and every little happy wiggle you do.
A rare child results in a rare kind of parent. Will you ever take those first steps? Say those first words? Fall in love? Be able to read this? We have no idea and genuinely don’t care. As long as you are happy… and as long as you are here. You are rare my love, you were the treasure that awaited us.
