While we knew the study was being conducted, it was a Google search I did that brought up the paper that the geneticist herself didn't even realize had been published. So after a quick request to the geneticist, the research paper in its entirety was sent to us.
Even though I didn't understand all the scientific terms, I was really excited to read the details about Ellie's genetic mutation and I was as equally interested to read about this other man who shares the same genetic mutation as my daughter. So I was sitting there reading about the 28 year old man and noticed all the similarities that he and Ellie share. He had an ischemic stroke and then was diagnosed with Moyamoya disease. Like Ellie, he had hypertension and suffered from migraines and a history of seizures. And I noticed the differences too. Most notably his diagnosis of achalasia (trouble swallowing) that was diagnosed at age 4, which is a condition that was present with 100% of the patients in the previous study but is something that so far hasn't been an issue for Ellie.
Then I read it and it hit me like a brick wall. "This patient died in his sleep at the age of 28 years. No autopsy was carried out to determine the cause of death."
I felt sick. I felt shocked. I felt fear. I haven't been able to stop thinking about this man ever since. This man, who has no name to me besides his research name of "MM041", but who shared my daughter's same mutation. If he could die in his sleep, who is to say the same won't happen to my daughter? This hits on a sensitive subject for me because for awhile now I have had this fear of her passing away in her sleep.
I'm not sure which of these experiences, or a combination of all of them, have led to this specific fear. Ellie's second stroke, the one that almost took her life, happened when she was napping and I went in to the room to find her in that condition. Then a couple nights later, while in ICU, I had just fallen asleep next to Ellie when our nurse started telling Ellie to wake up and take a deep breath. Then her oxygen alarm started going off and our nurse yelled for another nurse, who came running, and they started desperately telling Ellie to breath. Another time, Ellie had a procedure done under anesthesia and while waking from anesthesia she stopped breathing. I was standing next to Ellie and I started yelling, "She's not okay! She's not okay!" right before her alarms started sounding. This time her lips turned blue and encouragements to "Breath, Ellie!" weren't enough and the nurse had to provide bagged rescue breaths to get her to start breathing again. Both of these incidents involving her breathing have been attributed to seizures.
Also, when Ellie is awake I find myself constantly assessing how she's doing. Is she walking as well as normal? Is she having trouble using her good hand? Does her face look symmetrical? How do her pupils look? Was that jerk voluntary? Did she just trip and fall or is something wrong??? This is the chatter that's ongoing in my mind as I watch Ellie throughout the day but I can't observe these things when she's sleeping. All I can do is to check that she's breathing, which I do several times a night and then pray that she is okay.
Beyond the initial shock that MM041 passed away in his sleep at the age of 28, my mind screams, "Why didn't they do an autopsy?! Why am I left here to spend my nights lying in bed thinking, 'I bet he had a stroke. It had to have been a stroke. But maybe it wasn't. Maybe he had an undiagnosed aortic aneurysm. Maybe it was a seizure that caused him to stop breathing. Or could it have been something completely unrelated?'" Oh how I wish we knew! But we don't and we can not know.
Ellie's genetic mutation is so rare that she is literally writing the textbook on it with her life. We can't Google things like "GUCY1A3 life expectancy" and expect an answer because it hasn't been studied. There are no answers and while the uncertainty of her illness is sometimes a tough pill to swallow, I think it's also a blessing because the fact of the matter is that no one's future is certain. None of us know if we will die tomorrow or live to be 100. But I have to believe that God has big plans still for Ellie's life. Things were looking really bad for Ellie and even the utmost experts on Moyamoya Disease were not sure she would survive. And yet here she is, doing way more than just surviving but truly thriving. While I can't help but worry about my little girl, I know God is in control and I look forward to continuing to see the plans He has for Ellie's life. Not plans to harm her but plans to give her hope and a future.
