Amanda Buck is a fellow Vancouver mom blogger whom I’ve met through local events. Before meeting her, I’d never heard of cystinosis, the rare disease her daughters has. When I heard that Amanda had compiled a book, I asked her to share more about her daughter’s store and her journey into publishing a book.
Cystinosis. It’s a word that most people have never heard before. Many days I wish I was still one of them.
My daughter was 15 months old when we were told she had this extremely rare metabolic disease. Suddenly we were thrust into a new world of regular doctors’ visits and blood tests, a round-the-clock medication schedule, and desperately hoping that our little girl would be okay.
With only an estimated 2,000 people worldwide living with cystinosis, it’s not uncommon that even many doctors and nurses have never heard of it.
Dealing with a rare disease, especially at the time of diagnosis, can feel incredibly lonely. We had no friends or family who had ever dealt with a life-altering diagnosis and were left feeling like no one close to us could really understand how we felt or what we were going through.
Often times, I felt like I was floundering my way through it and desperately hoping I didn’t mess up. It wasn’t until we started connecting with other families in the cystinosis community that we began to feel like maybe we could make it through.
Today my daughter is a 5-year-old bundle of happiness, energy and love. Most importantly, she’s as healthy as she can possibly be. She needs to take over 8 medications at various times throughout the day (including the middle of the night) to keep her healthy but it’s completely worth it to see her on the playground, laughing, playing and keeping up with all the other kids.
And while we seem to have finally found our groove and adjusted to life with this disease, it’s not always a walk in the park. Many of the medications she takes taste awful and leave her feeling sick and nauseous. There’s a whole slew of potential complications we may run into in the future. The only way to ensure that my daughter will remain as happy and healthy as possible is if research into better treatments and hopefully even one day a cure is being done. However, since cystinosis is so rare, there is no government funding for such research.
This leaves funding entirely up to the cystinosis community. Families throughout the world work tirelessly to raise awareness and funds so that organizations like the Cystinosis Research Network can continue their vision for the discovery of a cure, development of improved treatments and enhanced quality of life for those living with cystinosis. I wanted to do something to help.
I started blogging shortly after my daughter was diagnosed. Instantly, I felt the therapeutic value of writing my thoughts and experiences down. I also found it easier to connect with others through the posts I wrote and also from reading their own stories. It was amazing how much strength and resilience I found in this community. Although our struggles are generally invisible to the public at large, I wanted to highlight these incredible stories.
After a year of compiling and editing stories from anyone in the cystinosis community who wanted to contribute, Amanda Leigh and I released Strength: Lives Touched by Cystinosis. Amanda is a woman living with this disease and the author of Scarred.
People from all over the world sent in their stories, some of them parents, grandparents or siblings of people living with cystinosis, others teens and adults living with cystinosis. These are people from all different walks of life, in different stages of their lives bravely sharing their perspective on not just life with a rare disease but life in general.
There are stories from parents about receiving their child’s diagnosis, stories from adults with cystinosis looking back on their lives so far, a letter written to cystinosis, and so much more. Through it all I was struck by the underlying theme of strength and hope that so many of us can find inspiration from. These stories are meant for everyone. Everyone who has ever experienced the great pains and joys of life.
All proceeds from this collection will go to the Cystinosis Research Network and in turn back to the cystinosis community and ultimately my daughter’s future. Our hope is that this book will shed a light on a rare and little known condition and touch others lives just as cystinosis has touched ours.
Strength: Lives Touched by Cystinosis can be purchased online from CreateSpace (an Amazon company).
You can learn more about cystinosis and follow Amanda’s story over at www.elsinosis.com.