Elliott is an amalgam of contradictions. While he is profoundly disabled with minimal movement control or speech, he is both gifted and a gift. Despite not being able to sit, roll, reach, see, eat or communicate, Elliott is a profoundly happy little boy whose depth of love and mesmerizing smile melts your heart. While the enormity of his disabilities is a source of great sadness and loss, Elliott himself is an unequivocal source of joy in our lives. He is deeply loved and celebrated every day.
Soon after Elliott Lyndon Conecker was born, in November 2012, he started having episodes eventually diagnosed as epileptic seizures. It took months of consultation with a myriad of doctors to learn that he was experiencing infantile spasms accompanied by a profound absence of muscle control in addition to cortical vision impairment (a vision processing disorder where despite the eyes being functionally intact, the brain does not process what the eyes are seeing).
What doctors think is the cause of most of Elliott’s health issues (really just their best guess because so little is known) is that he suffers from an extremely rare form of epilepsy identified only by the name of the mutated gene – SCN8A, a sodium channel blocking gene. While the numbers of children diagnosed grows everyday, at the time of this posting in 2015, there were still less than 50 people in the world known to have this mutation.
Elliott’s first year and a half was dominated by uncontrolled and evolving seizures and the search for anti-epileptic drugs (or AEDs) that might control them. It was a torturous and terrorizing time since so little is known about how the genetic disorder works or how to treat it, the introduction of each new drug or treatment was nothing short of a guessing game – or more like a roulette wheel. Any given drug could potentially “cure” him, turn him into a zombie or even kill him.
For a period, we spent so much time in and out of the hospital that we had a routine to get out of the house quickly and to make the ICU our home. We had many family celebrations there (birthdays, anniversaries, etc.), gatherings with dear friends, and many meetings with hospital doctors and staff to pursue hope by developing Wishes for Elliott and its aggressive research agenda.
In the search for answers, we were always told that the single most important thing in treating Elliott was to control his seizures – and only then could there be any likelihood of any development – physical, motor, speech, etc. With each new drug we nervously but cautiously awaited improvement – you learn to protect yourself from more disappointment and losses. But time after time, various drugs not only failed to control his seizures, but at times his body had severe toxic reactions to drugs. In June 2014, his seizures were so out of control that we ended up in the ICU several times in the span of a few months and for the first time we faced the stark reality that we could lose him – at any time. We were told there were only two remaining medicines to try – one that was not likely to work and one that doctors believed had a decent chance of killing him. To everyone’s surprise, the one that they thought wouldn’t work, ACTH, led to a dramatic reduction in Elliott’s seizures. It’s hard to describe the stress that was relived in reducing seizures that would cause Elliott to stop breathing, turn blue and cause unknown amounts of damage to his already fragile brain.
While we had always been told that the greatest hope for development to “jump start” would come with the control of seizures, nothing happened. Nothing. Little new movement, head control, speech, grasping or vision improvement. The explanation was that clearly the seizures were not the cause of Elliott’s developmental “delays” but rather the underlying SCN8A mutation – of which so little is known.
And on top of the profound disappointment in the absence of any spurt in development, oddly enough the substantial control of Elliott’s seizures coincided with the emergence of severe and life-threatening respiratory issues. The profound muscle weakness and lack of control means that Elliott cannot take very deep breaths – but more importantly, that he cannot protect his airways or cough consistently to clear them. The first step was eliminating all food and medication by mouth – but respiratory failure continued to pose constant threats. Elliott cannot control his own saliva and too often aspirates – or gets saliva in his lungs, creating impaired breathing, oxygen saturation, and high risk of pneumonia.
So again the symptoms get treated - surely no cure ever even discussed. The new normal in his life is a total reliance on a range of equipment and treatments that makes him – and the family – near prisoners of our home. He requires use of a BiPAP whenever he is sleeping to help keep his lungs inflated. In addition, Elliott receives three comprehensive respiratory treatments daily, each taking roughly 1.5 hours including up to six different drugs through a nebulizer (misting the medication so he breathes it in and it goes to his lungs), a vibrating vest, a cough assist machine (a miserably uncomfortable machine that pushes air in and out of his lungs to stimulate coughing), and hand held chest percussion. His oxygen levels are almost constantly monitored with a pulsox wrapped around his toe providing us constant feedback of his respiratory status. Monitoring and intervening is a 24 hour/ 7 day a week job.
Elliott’s days are busy and intensive - between his extensive respiratory treatments and managing delivery of all his nutrition and dozen or so medications through his g-tube, on varying days he also gets physical therapy, occupational therapy, and vision therapy both at home and at a medical facility.
So, while his seizures today are better controlled, as a result of this mysterious condition, his death is still a very dark possibility that still lingers in the back of our minds daily (or the forefront, depending on how poorly or well he is doing). And not only because of the respiratory issues. A number of the 50 children identified have unexpectedly passed away, mostly from SUDEP – sudden unexplained death in epilepsy. That says it all – they have no idea why, but these kids just slip away. We try our best to set aside those fears so we can enjoy every moment we have with Elliott and dedicate ourselves to finding answers.
And it isn’t as if we haven’t had access to extraordinarily skilled doctors – we have – and we feel blessed to have so many dedicated, conscientious and committed professionals committed to his care. But the cruel and sad reality is that the science is simply not there. When how a disorder impairs diverse functions of the body is not understood, there is simply no clear protocol of how to treat the symptoms, let alone try to cure the underlying condition or predict a prognosis.
So while our story begins and ends with how deeply and profoundly we love Elliott just as he is, we so deeply wish more for him – more ability to control his body, his communication, and his interaction with the world around him. He is loved unequivocally and we will never stop fighting to give him more. Elliott’s only hope is with very specialized research on how his underlying genetic disorder works. Only then will work even begin to explore, test, and apply treatments and eventually cures.
And so we place all our hopes in research – and continue to reach out to friends and allies to help uncover the cruel mysteries of the SCN8A disorder in order to bring hope to Elliott and the other children like him. No child or family should ever have to experience this.