My baby’s new prognosis: ‘She will not die’… but what will her life be like and how should I live mine?
When Bina Shah’s daughter was diagnosed with a rare chromosomal disorder, Bina was inspired to found Project 8p. She desperately wanted answers to the questions that went beyond the fundamental question of why her daughter was the way she was. The most recent prognosis for her daughter—that “she will not die”—did little to resolve these questions and betrayed the memory of those 8p heroes who have lost their lives. Does she face a life without joy, without health… without meaning? Will Bina outlive her daughter and not be there for her? Here, Bina speaks from the heart about the emotional tightrope she must cross every day: striving to be a champion of hope for the community while facing the many unknowns around an 8p diagnosis. She hopes that her account will resonate with many others in the RARE community, reassuring and inspiring them as they face their own dilemmas and challenges
By Bina Shah
The journey beyond a diagnosis
I am considered one of the “luckier” rare disease parents whose baby had a genetic diagnosis early: my daughter’s came at eight months old. She was very calm and there were no medical concerns. She was a blissful baby, which also meant that she didn’t move much or cry much. That concerned me—and living in the dark is not my nature. Relentlessly searching for answers is.
I visited a neurologist who dismissed my fear, but I eventually found a geneticist, who had no bedside manner but did make the bizarre diagnosis of chromosome 8p inversion/duplication/deletion. Breathe. But that was certainly not a final answer for me. And all the questions I still had were lost in the black hole that I experience today and every day. How could a genetic microarray test result become the end of my journey? For me, it was just the beginning.
By the time she was three years old, the black hole of unknowns had some hope when I gained the courage to join a Facebook community about 8p. I soon came to learn from other families around the world. The disease is primarily neurological with a range of comorbidities, including intellectual disability, global developmental delays, congenital heart defects, epilepsy, autism, apraxia and more. Wearing my investigative hat, I quickly realised that 8p was poorly understood because we had a complexity of large copy number changes (CNVs) with hundreds of genes missing or duplicated, the biological underpinnings unknown, and no precise way of aligning which symptoms or phenotypes matched which patient with which genes.
Every 8p hero is unique. But if all the valued investment in precision medicine is founded on the belief that every individual can be treated as an n=1, then why shouldn’t I embrace that as HOPE?
That hope battled the fear of losing my daughter in this black hole. And hope won. In 2018 I decided to fund scientific research into 8p. I had witnessed a community of loving families alone and confused—only hearing about limitations and what their child could not do. I wanted researchers to look for clues from patients, medical records and even their blood or skin cells.
My new job was to find the golden nugget. To find a treatment. And it became more than a job. It became my life, compelling me to launch a foundation called Project 8p, with a mission to empower a unified community for chromosome 8p heroes for a meaningful life today while accelerating treatments for tomorrow.
Search for truth among the infinite possibilities
During the pandemic, I did not take a day off from my search for answers. I was driven to discover more about my daughter’s newest prognosis—that “she will not die.” No one could tell me what that really meant or if in fact they could be wrong. What if she does die? Some of our community have lived through the horrific loss of their children to this condition or it’s comorbidities. I read the scientific papers and followed the latest developments. I called scientists working at the cutting-edge of research in the field and started building my own network.
I sought truth-tellers because I wanted unfiltered advice about longevity and the complexity of the disease. I didn’t really want to process what my daughter’s not dying really meant, but I was now the leader that instilled hope for others affected by 8p. If I couldn’t handle the truth from those who so graciously wanted to help, how could I lead my tribe of 8p heroes and families?
My strong intuition that helps me to serve my tribe is fuelled by my feelings, but to embrace my feelings, I need to walk a tightrope. If I get stuck in my feelings, then I can’t do my job. In front of the world, I have thick skin as the leader of Project 8p because I am accountable to my dear 8p heroes and families, our scientists, donors and clinicians. When I’m giving a talk, it is a surreal experience. There, I stop seeing myself as a mother living with emotional pain, exhaustion and deep feelings of guilt. But at my desk, I wonder every day about the conflict between achieving our mission and leading a meaningful life TODAY. Am I serving my own daughter by whizzing past her with a quick kiss to rush to click on a Zoom link?
On that Zoom call, I am naturally energised about the infinite possibilities ahead of our community. I don’t come from a scientific or medical background and therefore I have the luxury of not knowing, so I can wonder. I have a desk full of colourful Post-It Notes for every hypothesis I dream up. Some have merit. Some get key opinion leaders scratching their heads on what appears like a Hollywood Squares game show. That feeling that there are indeed infinite possibilities drives me. It is my why—why I started the foundation to save my daughter from her rare disease (as I say in my letter from the founder on the Project 8p website).
During these meetings, I read my sticky notes aloud. Will she die? Will I outlive her? Will 8p cause cancer? Alzheimer’s? (Some literature shows 8p genes linked to many common diseases.) Can anyone tell me which note to throw in the bin? I challenge these generous human beings—philanthropists, scientists, industry leaders—to help find the truth.
The patient advocate’s dilemma
Can I be a truth teller too, though? On most days, I hold my head up when I’m barely surviving, but on other days, I wash my face with tears—I am very thankful for Zoom filters, so nobody notices. The tears are because that day I forgot to eat or shower, or play with my children, or just take a walk along the river. During a call, I’ll hear my daughter’s physical therapist leave her room or her speech therapist using her augmentative and alternative communication device that sounds like a robot. I try not to get sad, for this parallel existence is nothing out of the ordinary.
But then the conflict comes again. As I work to achieve Project 8p’s mission, am I being the best mom to my now 9-year-old baby who speaks just a few words but spreads so much love? A love like no other.
My mentor asked me what makes my day worth living… I pause for my tears. I know the sacrifice, but I know no other way to live than to be the best version of myself, and I know that the best version of myself will benefit those around me. The wonderful community of 8p parents are in this together to be the source of hope for more meaningful lives for our 8p heroes and I must champion that hope. That makes my day worth living.
Ultimately, I have to believe my daughter will have less of me and I will have less of her: she will not die before me. And, together, Project 8p will find—or make—a way for people like her to lead meaningful lives.