Heather Bowie shares the story of her son Aidan and his rare disorder known as PURA Syndrome in this week’s guest post. Read more about Aidan on his mother’s blog at Family Synapse http://familysynapse.com . For information about sponsoring or attending the PURA Syndrome Conference June 23-25, 2017 in Philadelphia, visit the PURA Syndrome Foundation website at https://www.purasyndrome.org/conference17.
Also worth reading: Aidan’s older brother, Liam shares his story of growing up with Aidan in the November-December 2012 edition of Pediatric Nursing, in “A Journey Through Disability: A Sibling’s Perspective“.
Find Heather on Facebook: https://www.facebook.com/FamilySynapse
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Heather’s Story
Non-verbal. Non-ambulatory. Seizure disorder. Genetic mutation. Spinal fusion.
All phrases used to describe my son. All true. All words I want to throw out like yesterday’s trash.
My son Aidan has a rare genetic disorder and he’s pretty incredible. I know, I’m his mom and believing in him is my job.
Aidan has PURA syndrome. It’s a newly discovered (2014) de novo genetic mutation resulting in a neurodevelopmental disorder. There are approximately 100 known cases worldwide.
100 cases. Each one a story, a life, a family member.
Aidan has PURA syndrome and sometimes I get confused about my job. Of course it’s easy to believe in him because I love him truly, madly, deeply. And because I’m his mother I feel responsible for bringing about the best possible circumstances for him to excel. This is why I’ll spend oodles of time on the phone with insurance companies making sure appropriate services are covered, or push his medical providers to think through better solutions, or urge his therapists to write functional and practical goals. I implore, persist, and advocate.
And when Aidan was young I worked with him as if working with him was my job. Every toy I purchased had some sort of therapeutic purpose. I engaged him and encouraged him to use his struggling little body in ways that would make him stronger and his mind smarter.
Aidan is 16 now and more and more I’m realizing that my job is to be mom. In that regard, I am not replaceable. I want to be present with him. I want to live life instead of work toward some nebulous finish line.
I celebrate his accomplishments, not because I need to quantify his progress or check them off a list, but because they make his life better. Aidan is non-verbal but he uses a talker to communicate. He can tell me he’s sick or bored or that he wants to drive. And yes, he drives. Aidan is non-ambulatory but he uses both a power and manual wheelchair like a boss. He tools around the house and turns the water tap on or eats cookies left out on the counter or wreaks general havoc that independent mobility allows.
When I first started conversing online with parents who had children with PURA syndrome, I felt torn about my story. On the one hand, I wanted to say, “You will find depths of yourself that you didn’t know existed. You will thrive. Your child will be ok. Not walking and talking is not the same thing as not having any power to explore the world and discover and have fun and learn and communicate and love.” On the other hand, I’m not entirely sure that would have sounded like hope to me in the early days. And hope is the fuel we run on.
Last year I had the privilege of meeting families, doctors, and researchers at the first annual PURA Syndrome Conference in London. In talking with other parents it was powerful to share the “me too” of our stories, to know that someone really gets it. In hearing the medical professionals speak, it was a relief to know that their wheels are turning and they’re pursuing the most comprehensive information about and best treatment options for our children. It’s not my job.
This year we’re meeting again in Philadelphia in June and you could have a job too. We’re primarily seeking sponsorships to make this event a success. This is a great opportunity to make your company known to our fledgling population who needs the support of the greater pharmaceutical and research communities. We also want to encourage a variety of professionals to attend the conference to learn more and consider ways to collaborate.
You could have an impact on this story, these lives, my son.
For more information about the PURA Syndrome Conference please visit https://www.purasyndrome.org/conference17 and to read more about Aidan visit his mother’s blog at Family Synapse http://familysynapse.com
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Thank you, Heather, for sharing Aidan’s inspiring story!
If you have a story to share with our readers about participating in a clinical trial, overcoming adversity, or living with a chronic condition, please let us know. We’d love to have you guest blog for us. Guest blogging helps others outside of your disease area learn about your struggles and discover your passions. We will help promote your website and social media accounts, as well as your favorite advocacy group. Contact us to get started sharing your story now!