I have so many thoughts from this week, and I just have to get this out of my head.

This week has been a tough week on a lot of fronts… not gonna lie. The older I get, the harder it is for me deal with hearing that Ev has had a seizure. This was a milder seizure, but it still doesn’t make things easier. It’s like my dad’s long struggle with Alzheimer’s. We knew he would soon pass and in the late stages, death would (in a lot of ways) be a blessing. Still, it doesn’t make things easier in the knowledge… just like it isn’t easier knowing it was a milder seizure.

The communication about this particular seizure was different. We didn’t get a call from K-S Cottage (abbreviated name of Keller-Sullivan which everyone lovingly calls “Chaos”). This call came from Everett himself…. Before the seizure started. Me receiving that voicemail is a story unto itself. Bonnie had left for vacation earlier in the week and before she left, we decided that she needed to get her own Apple account. Ever since we started on our phones, we operate under one account. This makes things easier to share, but it was getting cumbersome.

So, it’s Valentine’s Day night and since Bonnie was out of town, I offered dear friends of ours to watch their son, Rowan, so they could go out on a Valentine’s date. Just 5 minutes after dropping Rowan off, I got a call from Everett. Nothing on the other end and I remember thinking “I must have picked it up too late”. Then, I looked at my voicemail and thought to myself, “that’s odd… how did he leave me a voicemail when I just picked up?”. So, I looked at the transcription text on the voicemail and it had one word… “Help”.

I immediately called “Chaos” cottage and a staff person asked me to hold while he checks in on Everett. After 4 minutes of silence, I knew for sure it was a seizure. If you know anyone who cares for a person with a rare disease condition (or any condition for that matter), you know that it is not just about the event itself, it is about your ability to quickly set a plan and take that plan into action (one reason I have a synergy with the first responders with whom I work). So, within minutes I called a neighbor to come watch Rowan (thankfully she said yes), called Rowan’s parents to let them know the plan, texted Bonnie’s cousin who she was with to tell Bonnie that Ev had a seizure (I had called her several times, but she was having reception issues with her phone at the time), talked with the nurse on staff at school who gave him his rescue med after 5 minutes of seizing (per protocol), told them to take him to Children’s, talked with the Paramedic who arrived on scene and told him what to look for and how to best communicate with Everett should he go unresponsive again, texted my work team to cancel a shoot we planned for the following day (knowing Ev had to be observed at home for at least 24 hours after the seizure), hopped in the car, talked to the neurologist on staff about his DBS and told him our plan to move his neurology care to Children’s (something he would be able to put on front burner) and then finally arriving at Boston Children’s to be with Everett. A very different evening than I imagined, but this is certainly not my first rodeo.

That all sounded like me, me, me… but it was a lot more people than just me. For one, Bonnie restarted her phone and we were together throughout all the phone calls. We came to realize later that Everett never left that voicemail on my phone. He had left that on Bonnie’s phone and because of her phone’s bad reception, she wasn’t able to even see that he had called. Had our phones not been connected in what many people would say is wonky, cumbersome and absent of privacy between spouses, I would never have made that call to “Chaos” had I not seen the voicemail that was on her phone. The result of which meant at most, a seizure that could have lasted longer and spiraled into a more serious one to, at minimum, be a seizure we wouldn’t be able to document and tell the doctors about.  

So, the big news is that we got to go home. We didn’t have to be admitted to a room in the hospital. We didn’t have to stay in the hospital for days. We didn’t have to call family and tell them difficult news and explain that we need them to come to the hospital. We didn’t have to contemplate whether keeping a child on life support was a benefit to the child or a benefit to the parent. My friend Courtney had to do all of those things this week. While I was able to bring Everett home from the hospital, her 10-year-old child, Theodora, did not get to go home, although I’m sure she immediately gained wings in her new home in Heaven.

I met Courtney in February of 2015 at a conference in DC when we were both advocating for rare disease to Congress. The story she shared with me was that her daughter, Theodora, has Timothy’s Syndrome, a syndrome rarer than Bardet-Biedl Syndrome and one that has the most heartbreaking consequences. I remember Courtney cutting through the medical terminology (which I’m not the best at) and telling me that kiddos affected by this disease have hearts that will basically explode without warning, causing death…. And that this happens by the time the child turns 6.

As a rare disease parent, we become adept at making complex plans on the fly in reaction to a specific situation… oftentimes, quickly. We become adept at changing gears, and we can do it on a dime. We become adept to be hyper-focused on what we can control and we will fight for control in situations that should be in control by providers. For some of us, we can’t sit still… we MUST do something. Something that will help make things better for others in similar situations. Sometimes we focus on doing something, so we won’t lose ourselves in the reality of what we are facing. In 2015, I took this journey into doing something. I met a lot of great people. Courtney, along with myself and Amylynne (whose son’s story is one in a million… literally) were like the three musketeers going into senators’ and representatives’ offices… including Paul Ryan, the then chairman of the Ways and Means Committee.

So, like my father’s Alzheimer’s and like my son’s degenerative blindness, the reality of the inevitable was present every day after diagnosis. For Courtney and her family, they knew the inevitability of Theo’s shortened life. In all cases, the knowledge of a path and walking that path are two very different things.

On Friday, February 16th, 2024, at 10 years old (and 4 years beyond expected lifespan), Theodora’s path on earth came to a close. She had her first cardiac event days earlier on February 7th. Cardiac Arrest is the leading cause of death for kiddos with Timothy’s Syndrome. These events happen “out of the blue” meaning there are no warning signs and no prevention outside of daily medication. February also happens to be both American Heart Month and Rare Disease Month.

Peace to Theodora.

Many folks have commented, “I can’t imagine”. Hell, I’ve even said it many times this week. If you take anything away from my writing, please take this; I’m sure you have had experience to some degree with the knowledge of a path and then walking it. Think about that feeling and reflect on that feeling. While Courtney and her family’s path has had a rougher terrain than most of us, bring that family closer in your hearts through your experience and do your best to not treat that family as “that family”.

Peace to Theodora’s family.