A Rare Disease Journey
By Owen Underhill, Board Chair
A New World
Our journey as a rare disease family began over 25 years ago with the birth of Alynne. Although very tiny and fragile with a chromosomal deletion variant that generated many complications, she was resilient as she moved her fingers through the air in her first hour. With her birth, a new world opened for my wife Wanda and I, one that we had never before imagined. At that time, Alynne’s older brother Adrian was 10, and her older sister Sophia was 7. They welcomed Alynne with wide eyes and insecurity.
It was a world with new people, including pediatricians, nurses, specialists, geneticists, surgeons, genetic counsellors, radiologists, and respirologists. We gradually became familiar with many divisions of the Children’s Hospital starting with the Neonatal Intensive Care Unit. This world also included a community of rare disease families and children, and a new family of supporters and caregivers that are forever special to us because they came to know Alynne, giving us strength and respite which we badly needed.
Alynne, shortly after birth, in the BC Women's Neonatology Unit - 1997
Big Sister Sophia holds Alynne for the first time in the Neonatology Unit - 1997
Alynne's Baptism with brother Adrian, sister Sophia, and Mom and Dad
Alynne, on holiday, puts her arm around her mother's neck
The month before Alynne arrived had been harrowing, with many prenatal tests revealing life-threatening markers. Finally, Wanda and I retreated into a quiet isolated space with our own anxieties and no tests, trying to figure out how to communicate the news to our two older children. When Alynne arrived with a quiet but emphatic presence, I immediately felt that things were better. Of course, that was only the beginning, and what followed was a seemingly never-ending series of medical developments and interactions, of which many were prolonged and traumatizing.
Alynne reaches for the sun on her 16th Birthday - 2013
Alynne, held by her sister, keeping warm on the front steps
Alynne’s siblings Adrian and Sophia grew up with her, forever transformed and gaining an extraordinary experience that now extends into their mid-thirties. Their leadership and care for her helped us bond together as yet another unique rare disease family amongst the many millions. Adrian and Sophia’s experience of understanding and growth is balanced by their childhood worries and anxiety, of which we are still learning about all these many years later.
The most constant and distinct presence in our story over the past 25 years has been Alynne herself. The first time she laughed was when we went on holiday as a family of 5 six months after she was born. At that time, she was sleeping in an open cupboard drawer, and when, on one of our outings, the warm Hawaiian breeze went through her hair, out came a very mirthful high-pitch laugh, amazing us. All her family and caregivers over the past 25 years have come to know that Alynne is full of laughter. This is always a revelation to all, as she usually expresses delight at unusual moments. As Alynne is nonverbal, her spontaneous humour is a lovely surprise. When Alynne is sick and having trouble breathing, the laughter goes away causing us, her immediate family to pay attention to her. Our lives interweave joy and pain in a rather indescribable way.
Joining The Foundation
When Alynne was 12, I was invited to join the Board of the Rare Disease Foundation (RDF). I agreed because of Alynne, with the hope that my experience of being a father of a special needs child would be useful within an inspired and groundbreaking organization. Through RDF, I have met a collection of colourful, thoughtful, determined and empathetic rare disease parents, researchers, caregivers and academics. We have worked together to build better care for those with rare disease through an innovative patient-centric Translational Care model focussing research on individual cases that proved to benefit many. We have also networked across the country to share the experiences of the rare disease community. Over the years this has included parent and patient groups where we have shared useful resources and information. More recently we have had webinars focussing on various mental health topics.
Alynne enjoys sitting with her Dad at the table - 2021
Alynne, delighted, as she reunites with her mother at the Vancouver airport - 2023
For me, this has been a second new world, a second phase of my journey, that has stretched exponentially out from my own family experience to include the many families I met at our annual picnics or at parent meetings. I have a better understanding of the ongoing multimodal research that we have accomplished in our many microgrant competitions, and the urgent need for better care and more effective ongoing support for the rare disease community. Speaking on a personal level, my life has been enriched by all the board members I have met with Rare Disease Foundation, and I am very proud of the work to the date.
Given my 13 year tenure with the Rare Disease Foundation Board, my time there will soon come to an end. That being said, there is much more work to do, and much to build on. Taking on projects that will improve the quality of life of rare disease patients and their families and finding treatments and cures for rare diseases requires continuous focus, adjustment, and new people to sustain and drive forward our mission.
Please consider helping us make a difference in the lives of those living with rare disease. Your help, no matter how small, is greatly needed.DONATE
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We thank you for considering how best you can help us to make a difference.
Chair, Rare Disease Foundation
Alynne visits brother Adrian and sister Sophia at camp in Ontario - 2006