My Son Has Duplication 15q, But Duplication 15q Does Not Have Him

On Friday July 18th 2014, we were told our son had a rare chromosome disorder — duplication 15q (IDIC15). Just a few months before we had been told he had the rare form of epilepsy known as West Syndrome. We walked into our appointment expecting to learn more about West syndrome, not to get another diagnosis. In a way, it was closure of one chapter and the beginning of another, which was altogether unwritten and unknown.

The day itself was incredibly hot, one of those rare days of glorious British summer we crave all year and yet it was largely spent indoors. The hours leading up to the appointment seemed to last for an eternity, most of it spent pacing nervously around the house in an attempt to kill time before we were due at the hospital just after lunch.

Arriving at the hospital, nerves were shredded in anticipation of what we were about to hear. In addition to the consultant and epilepsy nurse, there were two other medical professionals present (to this day, I have no recollection of who they were or why they were there, I assume they had some relevance to proceedings). Matthew’s consultant and epilepsy nurse held a somber look on their faces — a look of compassion yet foreboding and almost apologetic. It made my stomach tie itself in knots as I braced myself for the news.

Much of what happened in the appointment is a blur, I have no idea how long we were in there, it seemed like ages but was probably no more than half an hour. It commenced with a few pleasantries before the news was broken about this thing called chromosome 15q, its importance and how a duplication on it had caused Matthew’s epilepsy and developmental delay. We were presented with sheets of paper full of diagrams to explain it; a disorder guide found online by the consultant from the Unique website, a charity that would soon become vital to our fact-finding, acceptance process and ongoing support.

Back in the room, a range of negative emotions of anger, fear, sadness, grief, self pity and more were running through my mind. I contained the anger but the sadness and grief came out in spades as the medical team attempted to console us both.

Right there at that point I felt like a broken man. Almost a year prior to that day, just yards from where I was, I had celebrated Matthew’s birth. I had hopped, skipped and jumped down the corridor of the maternity ward, and yet here I was days from his first birthday attempting to come to terms with one of those earth-shattering things that just happens to other people. The contrast felt stark and brutal.

In the days that followed I was an emotional wreck, I barely slept and I fell to pieces on a regular basis. I seemed to have no control over the tears (because,yes, Dad’s cry, too) that would break out whenever my mind turned to Matthew, contemplating the future or what I had begun to read about duplication 15q syndrome (IDIC15).

I didn’t feel it then, but somewhere deep down inside, hope was growing like a microscopic shred hidden away somewhere in my heart or soul. At the time, it was invisible and suppressed behind the grief and fear, but I know now it was there.

As the days from diagnosis grew to weeks, so did hope, and it began to grow day by day. In contacting other families via Unique, reality dawned and there was a change of mindset. Rather than just seeing the negatives in the disorder guide and fearing the worst, there was a focus on the positives and the achievements other kids with IDIC15 had chalked up.

That mindset change was a vital part of acceptance, realizing the hopes of the 12 months prior were no longer realistic and new hopes had to be made. It was, and still is a painful realization, that Matthew might require lifelong support and might not be able to live independently, but with positivity gained from hope, we could ensure he achieves all that he can.

Fast forward a couple of years, and the achievements he makes are celebrated like he has scored a last minute winner at Old Trafford for United!

 

Matthew is yet to speak his first word but he does the occasional babble…amazing stuff!

I feared he would never communicate with us, it isn’t conventional but we have come on leaps and bounds and he has started to attempt to use PECS.

I feared he would never walk, he nailed it just a few months after his second birthday!

I feared he would be a kid without a smile, he has the cutest smile which lights up a room!

I feared we would never hear him laugh or giggle, his laugh is infectious.

I feared I would never have that father-son bond, it is there, he demands my attention to play, to hug, cuddle and be that Dad to him I always wanted to be and I cherish it!

I feared on diagnosis day and in the darkness that followed that there was no hope, that this chromosome duplication had taken our boy away from us and that it would forever dictate his life. I was wrong!

This is a kid who has never spoken a word to us, yet he makes us laugh and smile every single day, that is some impact!

Two years ago as I took big steps in acceptance, I wrote that, “Matthew has duplication 15q, but duplication 15q does not have him.” Something we still stand by.

I am not naïve enough to think there will not be challenges ahead, IDIC15 is far too complex a syndrome for it to not influence his life, I know it will. But by keeping hope alive, we can achieve so much and it makes each battle that little bit easier.

Follow this journey at A Father’s View of 15Q

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