Shopping for Syndromes

At around four months of age, I noticed that Sammy sometimes did not reach and grasp things as expected and stared into space. People would ask to hold him as he was so cute. Still, a few minutes later, he would be passed back to me with the question of happy, hungry, tired, or ill? "He's so wiggly, and I don't know how you do it?"

The staring of others during the endless crying while trying to settle and cuddle my raging child was hard to cope with during those times. Sammy was as stiff as a board, arched in the shape of a banana, between the crying.

I can only describe the dawning of knowing that there is something amiss with your perfect baby as a dark and chilling shadow that whispers into your ear. Only to speak out loud to loved ones and hope for the "professionals" to arrive. Our heart doesn't want to believe it, but your gut knows the truth. Our wrestling with this until you can no longer deny it.

We knew there was something very different about Sammy, but what? We noticed and reported a lack of development, the stressful and impossible crying, appointments, assessments, poking and prodding, traumatic drawing of blood, and medical tests. After the examination for terrible, devastating conditions returned negative, Sammy continued to miss every milestone. The next few years are now a sleep-deprived stress-induced blur; I call them the dark days.

I'm not sure if I had not grasped the magnitude of the situation or if I was holding onto the hope that somehow things would get more accessible, we would get some answers, and go from there, but for a long time, I did not cry.

Until one day, after a much anticipated pediatric appointment, I was looked in the eye and told straight.

"He will not catch up."

I remember staring back, glaring, hyperaware of the clock ticking and that I wasn't responding. It hit me like a train. Sammy was severely disabled; the doctor couldn't tell us why. The gap between him and his peers was becoming a chasm.

I had suspected Sammy had epilepsy for a long time. When he developed atonic drop seizures at three years, my fears took him more seriously than before; a second EEG test followed his second diagnosis. The news utterly destroyed us; things were getting worse, not better! However, we could commence anti-epileptic drugs, which thankfully and luckily worked gradually with the first drug we tried. So Sammy's overall development and distressed screaming improved a little.

I now believe he was having seizures from a very young age, and my concerns early on were correct.

Since tests started with Sammy, I have spent many hours researching the internet. Doing what I now amuse myself by calling "shopping for syndromes" involved researching every possible known syndrome to see if they matched Sammy's symptoms; so many did, but not quite. I pestered the pediatrician to test for them. I asked him about the DDD study as it seemed most likely that Sammy's differences were rare genetic differences. I exhausted myself emotionally and physically and drove myself bonkers.

I also spent ridiculous amounts of time researching various therapies and interventions, hassling the relevant person, and making charity applications to make things happen. I quickly learned that you don't get it if you don't fight hard for your child's needs!

Exhaustion has been a feature of our unexpected journey. The endless medical appointments, telephone calls, school meetings, assessments, funding applications, benefit applications (and appeals and tribunals!), on top of the daily needs of looking after a severely impaired child, severe and prolonged sleep deprivation, plus the self-appointed position of the chief researcher can add up to an emotionally and physically draining existence.

The worrying does not know that if you don't drive this thing like a tank through no man's land, nobody else will. It is a heavy load to carry.

Heartache has been a feature of our lives. It's unavoidable.

Watching your child struggle with every aspect of existing and functioning is heartache.

I love my older boy, Sammy's brother, so much it hurt not being able to spend time with him. My crushed dreams of functioning as a typical family disappeared. Doing fun things and learning about the world were gone. The guilt I had while watching his nativity play and sobbing silently throughout, not being able to peel my eyes away from the row of children Sammy's age singing a perfectly rehearsed song with an accompanied Makaton sign. Watch him play alone, endlessly, patiently, and sadly waiting for me to sort out whatever was bothering Sammy at the time.

Sammy remains nonverbal, with a severe intellectual disability. He scrambles for the snippets of information that a typical child processes every moment. It is constant interaction with the environment and social interactions that go on to build cognitive skills. He learned very slowly, in a haphazard way, are often forgotten, and the "diagnosis doesn't matter." I heard a lot, and I disagreed with it. Through my research, I knew that neuroscience had made gains in recent years and that the technology of whole gene exome could potentially reveal hundreds of new syndromes or conditions.

I knew that a lot of research in the past focused on genes associated with autism. Ten years ago, a diagnosis would not have been possible, but as things stood, I thought maybe we could get a diagnosis for Sammy.

As Sammy had turned six, I began to give up hope. I felt sick at discovering that his condition was worse than it somehow appeared. The DDD study results were imminent, and I had convinced myself they wouldn't find anything. Perhaps protecting myself by deciding that if there were no results, I would give up searching and accept not knowing. Surprisingly, the DDD study did find a cause of Sammy's disabilities. It was SYNGAP1!! I said to myself, SYNGAP1, what?!

I did what anybody would do, given that I had to wait six weeks for further information from genetics. I began the search in my trusty friend and tool called Google, of course! I was astonished to find there were OTHERS and that some knowledge was available and research had already begun. When I saw a photograph and read a mum's description of her daughter, I literally could not breathe for a few minutes. Finally, we had the answer, and we were no longer alone.

There was an end to the chapter of knowing, which brought about some sadness too, but overwhelmingly the end of the dangling on a string and wondering feeling being over is an excellent relief. And no, a new chapter of learning all there is to know about SYNGAP1 and the other children. Having access to the knowledge and experience of others has been helpful for us to move in a more refined direction.

And Sammy, well, he's just Sammy! He can drive you from tears of exhausted frustration to make your heart sing with love and admiration for his ability. To experience bliss and joy from things that most people take for granted much of the time. The feel of water sprinkled or flowing, watching it ripple, the reflections, shadows, and mud in a puddle. He has taught us to notice these simple, beautiful things and be in the moment.

Sammy can walk, but he's wobbly and falls over a lot, he tries hard to talk, and we are hopeful that he will learn to say some words reliably; behavior is like a toddler, and this has been the most challenging aspect of SYNGAP1 for him and you. He was recently further diagnosed with oral dyspraxia and an unrelated to SYNGAP1 (we think) hearing impairment. We are grateful the doctors have his epilepsy under control. Although we carefully watch for changes.

He loves food and animal. He goes to a particular school and enjoys the sensory-rich environment and the activities. He has a respite worker, which he adores, and we want the time doing stuff that Sammy doesn't like! He can get overwhelmed easily and requires a lot of sensory input.

The diagnosis doesn't look to matter. It does!

As I sat and wrote this story, a new post popped up on the Syngap1 Facebook group. These snippets of information are like good dust to a desperate parent flailing around in the dark for six-year! The latest search and findings into SYNGAP1.

Miracles could happen if a drug could be developed and safely given to our children to target the lacking protein SYNGAP1 and allow more efficient learning while their brains develop! We live in hope for this.

We also live in the hope that we can continue to refill our cups each day to face the next, knowing that the love we have for our special SYNGAP1 baby and his wonderful, caring, and loving brother will see us through whatever life has to throw at us next.