One word. One single word bursting with a zillion emotions.
Little did I know then, that the battle for validation was not just my own, but rather one faced by so many living with a rare disorder.
For my family, validation came too late. It began three months after Ella died, first with a chat with our genetic counsellor, followed by an email with findings from the pathologist, and then a week later when I sat across two of Ella's doctors, accompanied by Ella's dad, and by the chaplain for additional support, receiving the results of the autopsy.
The fact is, Ella had passed in March 2009 from a then undiagnosed rare disorders attacking her lungs with emphysema. The autopsy report in front of us was basically ruling out the main suspicious cause carried forth by a member of our medical team: CMV (Cytamegalovirus). Don't get me wrong, we had tested several scary rare disorders, and everything had come back normal. But CMV kept coming back as the disrupter. In my heart of heart, I did not believe it to be cause. Why? Call it mother's instinct, or my own experience with symptoms seen in Ella that I could relate to.
I remember going through an extensive list of questions and potential diagnoses. Each point on my list had been carefully prepared from my research which I started while Ella was hospitalized, months earlier. In black and white, it actually included two line items: Filamin A (FLNA) mutation and Ehlers-Danlos Syndrome, which since became familial diagnoses for my family. And yet, back then, the medical team sitting across from me was still reluctant to say that they supported the autopsy findings pointing strongly to a FLNA mutation. I can't blame them. The truth is, no case likes ours had been since in Canada at the time. And furthermore, though I know now there were cases and even lifesaving solutions offered to families of babies like Ella back then, they had not been written up in medical literature yet for me to find them, or in medical tools for her team to discover.
I dug up the email I sent the team after our meeting. Here's an excerpt: ''I remain certain in my gut that just like I knew Ella was sick at birth and kept questionning her health, I know that CMV is not the cause of her illness. I can't explain it, but I've had this feeling from the beginning...''
On October 1st, 2009, a whole six months after my pumpkin Ella took her last breath, I finally received the validation I had expected while struggling to save my daughter. I remember when the call came. I already had known, in my heart of heart, that Ella was sick from birtth. I had read the autopsy report from top to bottom and knew CMV was not a factor. And on that day, experts in genetics confirmed Ella had died because of a faulty Filamin A gene, the root cause for her rare disorder: X-Linked Periventricular Nodular Heterotopia.
Validation, though immediate, was only half-experienced. There was so much more I still needed to prove. And that came full-circle six days later, on October 6, with the outcome of my relentless investigation into my family's health when I discovered my mom had an MRI 10 years before Ella was born, Its report stating that she, too, was diagnosed with Periventricular Nodular Heterotopia (but no one had actually told her). The reponse from our genetic counsellor when I contacted her to tell her of mom's diagnosis remains among the one of my favourite moments in this sea of struggles.
That one finding would render me an obligatory carrier, but truly, it explained every single medical issue I had been dealing with. All my life.
And it meant I was not crazy in claiming loudly to everyone who would listen that ''whatever plagued Ella came from me''. That I was right in saying from the beginning that Ella's breathing was not right. That I was NOT a nervous first-time mom when explaining to each doctor I met that Ella was sick. Really sick. Above all, though, it served as the powerful vector fueling who I became. A version of who I always had been.
An advocate.
For Ella. For myself. For others like me and like her. And for everyone else who needs an advocate by their side.
