Treading the Rare Disease Waters


Imagine yourself treading ocean water. Between the waves, you see a glimpse of land.  Water rises above your ears and face and rhythmically lowers to your chest. There is no one around to save you as your body weakens. You don’t know what will happen next; You just have faith that everything will be okay.

This is what it’s like to have children that have an extremely rare disease and they are the world’s oldest known. We tread in uncharted waters every day, holding onto faith and collecting tomorrows as if they are gold.

This month, we have been swimming and treading the waters of the unknown with MaryEllen.

It started with two seizures in the middle of the night. In itself, this is not a cause for alarm for us. Following the seizures, MaryEllen was not responsive and had an abnormal eye blink. We gave Diastat, a medication given to stop uncontrollable seizure clusters. MaryEllen quickly fell asleep and her temperature began to rise. It settled at 101 as she awoke, still unresponsive while her eyes blinked and roamed wildly. She was not able to breathe on her own and so remained on her home ventilator.

At that point, we had to call the ambulance.

“911, what’s your emergency?”

“My daughter is having a seizure that we can’t stop,” I said calmly. This call was not like so many others I made in the past to 911. We weren’t contemplating CPR and MaryEllen had a good airway. Her vital signs were stable and we figured we’d be home by evening.

I gave the 911 operator our address and an ambulance arrived quickly.

The medical team surrounded MaryEllen as soon as we arrived to the hospital. Blood and viral swabs were obtained. An EEG showed no seizure activity, as she continued to be unresponsive, with roving and blinking eyes.

As the hours passed, she stopped urinating.

Still continuing the need for life support because she was not breathing on her own, MaryEllen was admitted to the Pediatric ICU, a very familiar place to our family. We always joke with the staff when we end up there.

“Hi, just coming in for a quick hello,” I said. “She must have missed you guys.”

“Hi, MaryEllen! You know we love to see you, but can’t we see you at the grocery store instead?”

The conversation is always the same. The words are said in jest but they hold so much comfort. These doctorsIMG_4724 and nurses know my kids so well that I can breathe and not feel like I am drowning while my child is struggling for her life. There is no price tag that can be placed on that feeling. The staff, although they may not realize it, is the world’s most experienced when it comes to critical issues in Warburg Micro Syndrome.

By the third day, MaryEllen began to wake up and look herself. She still had a slight fever for which there was no known explanation, and she still required her ventilator for breathing but she was smiling and happy so were ready to go home!

Within 24 hours, MaryEllen was off her vent and perfectly her perfect self. We didn’t have any answers but we were happy we were back to our normal.

Until 10 days later.

Again, she had two seizures in the middle of the night, followed by unresponsiveness and roving and  blinking eyes. Five hours later, the fever started. Since we knew that the previous episode of unresponsiveness and eye movements was not a seizure, we watched for anything out of the ordinary. (If I can even say that!) She still required use of the ventilator for breathing, so I called the neurologist to let her know what was going on. She recommended an immediate dose of anti-seizure medication and Diastat, just in case.

By the secIMG_4725ond day, MaryEllen was still not responsive. Although it seemed like she was awake, she had no smiles or frowns and things that would typically bother her went unnoticed. Her fevers continued, but this time, did not return to normal with Tylenol. She also stopped urinating even though she was still receiving her meals through her feeding tube.

Concerned that her electrolytes might be critically abnormal, MaryEllen’s pediatrician suggested we  go to the emergency room for bloodwork and a chest x-ray.

Again, the Emergency Room medical team surrounded MaryEllen. Blood was taken and this time, MaryEllen needed a foley to relieve her full bladder.

Results of the bloodwork showed critically low levels of sodium and potassium. This time MaryEllen was so much sicker than the last. I couldn’t stop wondering what was happening. Was this related to Warburg Micro Syndrome or was it just a weird MaryEllen thing? The sinking feeling of the unknown overwhelmed me. Is this what happens when Warburg Micro kids get older? Are we going to go through this with Kevin, too? Does rapid deterioration happen with this syndrome? What is happening that cannot be tested for? What are we missing? I couldn’t keep up with my own thoughts.

As we entered the Pediatric ICU again, we were welcomed and comforted by familiar faces.


MaryEllen had mIMG_4723oments of alertness, but for the most part, she was not aware for six days. EEGs were negative for seizure or postictal activity. Her CT scan was unchanged from years earlier. A shuntogram showed no malfunctions in her shunt. All her bloodwork returned to normal. There was no explanation for what happened.

By the eighth day, MaryEllen was alert and happy, so we ventured home again!

This time, instead of rushing to come off the ventilator, we are taking our time. MaryEllen will continue to use it while she regains her strength and during that time, I will again try to regain my buoyancy in the ocean of the unknown.


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