In retrospect, I am surprised that Eva and I made it home safely from Nicklaus Children’s Hospital (NCH) after receiving her BPAN diagnosis. Between a steady stream of tears and ugly guttural cries, I managed to get two blocks away from the NCH parking lot at which time I had to pull over to the safety of a side street. While gasping for air, I called my husband – to whom I had just broken the news. I had not provided much detail, in part because I wanted to make sure I had all the facts straight. As an ultra-rare genetic condition, just a few key strokes on my cell phone had provided me with ample information regarding BPAN (I would later quip, unlike other medical conditions, the fact that BPAN is a rare condition, actually made it easier to filter through the information – less known about the condition, meant that there was less misinformation out on the internet). Most of the descriptions were fairly consistent. Early cognitive and motor delays/global developmental delays, possible seizures and disordered sleep, followed in late adolescence to early adulthood by a sharp decline in motor functions leading to dystonia, parkinsonism and dementia.
And then of course … no cure.
By this point, I began to doubt my memory. Perhaps I had actually heard the wrong diagnos
is? Maybe I had misheard the name of the gene? I even started to Google other gene names that began with the letters WDR. WDR45 was the only gene related to neurodegenerative brain iron accumulation. At each red light leading to the highway, I checked yet another article. Perhaps it said something different? Why would the geneticist not have told me more? I didn’t even have a copy of the genetics report (Murphy’s Law - unfortunate printer issues at NCH).
Thank goodness for the rush hour traffic and the wayward drivers on the roads in Miami. I had to keep my eyes on the road. While trying to focus on the road through the tears, I felt my Eva kicking her feet against the back of my seat. Making the occasional sound, I could see her looking about, looking out the car window, turning occasionally towards me smiling, completely unaware of the devastation of her diagnosis, completely unaware of the heaviness in my heart.
That has always been our Eva’s gift. In all our days of joy and tears since her birth - Eva has always been Eva. She has no idea that she has fallen significantly behind her peers in all measureable developmental benchmarks; she does not know the difference between a Vineland-II, a BDI-2 and a VB-MAPP. Although a nocturnal creature, she has never spent sleepless nights wondering, ruminating, lamenting about her limitations. She does not know that her mother, father and family are struggling with the portent of an uncertain future.
What she seems to know is, she is loved. I would venture a guess, that much of her time is spent in the simple act of being Eva - sweet, stubborn, curious and infinitely affectionate.
I have always told people, of my three children, in many ways Eva is the easiest to care for because her needs have always been simple. Eat, drink, love, play and of course change a dirty diaper (or two). She does not care what she is wearing or for that matter what she is not wearing. She doesn't care if her hair is a mess or if she smells or has food on her face or stuck between her teeth. She doesn't care what car you drive, what neighborhood you live in and if your house is kept up and she certainly has no affinity for money unless it is to crumple it up or tear it to pieces. She does not judge anyone based upon age, race, sex, job or social status. For sure, she would prefer to be completely naked with messy hair with food on her face running around in a completely messy home with anyone who would be available to play with her (perhaps unemployed or retired – more time for Eva!). So beyond the tears beyond the fears beyond the doubt, lies the reality of my child.
Eva is here to teach me and perhaps you a lesson. I know that in her four short years on this Earth, she has already shown a capacity to love, unlike anyone I have ever known. She also reminds me every day to slow down and perhaps kiss a monkey (or a monkey ball) or rub my belly. She tells me to enjoy the simple things, like Cheerios with almond milk, even if it is something that she eats E-V-E-R-Y single day. She has even helped me to understand that in my powerlessness, I am still powerful. I may not have the power to find a cure for BPAN or the power to “heal” her of this debilitating condition, however, I do have the power to make a difference in her life and in the lives of my children. I have the power to demonstrate a capacity to love and be loved through the acts of service I provide to my daughter and to my community. In turn, with God’s grace, I can allow my daughter, myself and my family to be loved and embraced by community, fellowship, family and friends as we travel together on this journey. I know today, I am not alone. We are not alone.
I love you my Eva Magoo. Thank you for allowing me to receive this gift and for bringing me home.