Helping families find the critical information and support they need
December 11, 2019
Report from Rare Disease Week in D.C.
March 2, 2017
2019 - The Year in Review
December 31, 2019
Facing the Unimaginable
December 18, 2014
It seemed like we had already confronted – and started to learn to cope with – the most unimaginable reality. Our beautiful new son would likely never sit, crawl, walk, talk, eat, grasp, or see. His seizures might never be under control. How could it possibly get worse than that? Then we had to confront what we had never even allowed ourselves to imagine: that we could actually lose Elliott at any moment.
Profound disabilities don’t always mean high mortality risks, but Elliott’s conditions make him extremely fragile. One terrifying and poorly-understood possibility is SUDEP (Sudden Unexpected Death in Epilepsy), which could occur without warning. Maybe even worse, pulmonary problems could start a chain reaction leading to organ failure, forcing us to make wrenching decisions about
intrusive interventions and life support on the spot.
These are thoughts so painful that even though we recognize them as our reality, we rarely talk or even think about them. That is, until Elliott has another cluster of seizures or partial lung collapse. Some days shift from mundane to frightening in minutes. At those times, the disaster scenario again looms in our minds. A cold, an infection or the flu doesn’t just mean that Elliott will be sniffly and uncomfortable; it could portend a rapid progression to pneumonia or to those life-altering decisions that we fear the most.
This is a world where, unfortunately, we are not alone. There are thousands of children for whom small triggers can lead to serious risk of death.
We haven’t talked about this much. But we have received so much comfort, support, and understanding from you, our community, that we think it is time for us to share a fact we have not spoken about before.
In June of this year, we had our closest call so far. We raced Elliott to the hospital one day because his seizures were out of control. By the time we got to the ER, he was nearly catatonic after having had dozens of seizures and being dosed at home with several shots of valium. Every few minutes he would have another seizure and stop breathing for a minute or more, turning blue and scaring the heck out of us. The room that we were rushed into soon filled with over two dozen doctors, nurses and staff, all attending to Elliott. Finally, after a few more shots of heavy, sedating drugs, the seizures stopped. But during the process, Elliott had to be intubated to protect his airway. He remained under sedation for several days in the Pediatric ICU. No one needed to tell us that he might not make it, but it was the first time we saw how easily we could lose him. During this visit, Elliott’s doctors recommended that we enroll him in a pediatric hospice program. The idea was scary but given how grave things were, we agreed and he has been under the care of both the hospice program at Children’s National and the in-home hospice program ever since.
The word “hospice” is scary – in most people's minds, it means end of life, and sometimes it is that. But pediatric hospice is fundamentally different from adult hospice in that regard. Pediatric hospice is for children with life-threatening conditions; there may be an increased risk of premature death, but the family and doctors might still be fighting – using all available tools – for the patient to have a long and healthy life. The hospice program provides patients with additional attention and resources so that brewing problems are caught early and treated at home, before they turn into a trip to the emergency room.
Our enrolling Elliott is in no way a surrender. We did so to improve his care, and we have not limited our options in any way. We still aggressively pursue treatments to keep him healthy. We are constantly exploring options to more effectively treat and manage Elliott’s many issues.
A major benefit of the program is that, in the planning of Elliott's care, we work with doctors and nurses who understand his fragility. We have access to specialized nurses who not only get to know Elliott well, but will come to our home – any time of the day or the night – when he is experiencing issues of concern. You cannot imagine how helpful this has been and how critical it has been in keeping us out of the hospital over the last six months. The hospice team have made it possible for us to manage Elliott’s issues at home, with the help of nurses and the array of medical equipment we have here.
Some children do improve enough to “graduate” out of a hospice program. This is our hope for Elliott.
That being said, Elliott is not going to grow out of his conditions. As we have said so often, his only real hope for improvement is the research we are sponsoring and for which we are seeking your support. Time is not on Elliott’s side. While we know little about the prognosis of kids with his disorder, we know that no adults have been identified as having an SCN8A mutation.
Research to improve medical understanding of his class of rare genetic disorders is urgent. But there is no chance that it will happen without our coordinating and accelerating the few, scattered, ongoing efforts.
Elliott and kids like him need answers NOW. If you are able, please support our aggressive and ground-breaking research agenda. Help make possible the day when we can celebrate Elliott’s “graduation” out of the hospice program.