Last year was the first time the annual Rare Disease Day was on my radar. Despite celebrating it’s 10th year, I had never seen it recognized; I didn’t even know it was a “day”. But in February of 2017 I was grieving the loss Olivia, our daughter born with a life limiting rare disease.
In February 2017 I was anxiously approaching Olivia’s first birthday, completely unsure of what such an event would feel like. Celebrating your first child’s first birthday, without that child here? Devastating, upsetting, confusing, bizarre. I knew her birthday would come and go, and the first anniversary of her death would follow just a few months later. I also knew I would welcome our second daughter the same month. Given the unanswered questions surrounding Olivia’s diagnosis and genetic testing, I approached Gemma’s birth with a blissfully blind faith that she would be okay. Truthfully it was the only way I could manage to wake up and get through the day every day, every week, for 40 long weeks. The fear, otherwise, would have been crippling. Despite all the advances of modern medicine, there was no way to determine in utero if Gemma would be similarly impacted by non-5q Spinal Muscular Atrophy (SMA). No way except to wait and see. So I did my best to silence my fears for 40 weeks, and simply waited. Gemma was born breathing. She was crying and wiggling. She was eating. She was alive and breathing.
Gemma was born healthy. Olivia wasn’t. There is no blame to be placed. No finger to point or one thing to wish we had done differently. There is no room or reason for regret. This is just life.
The reality of genetics and science and reproduction and life as a whole is really quite miraculous. It’s a messy, complex, often unfair thing. A thing that will haunt me and simultaneously amaze me. A thing that will cloud any future pregnancy whether I want it to or not. But it’s life. It’s our life. Our reality.
We are a family impacted by rare disease. One of 300 million worldwide. And today we recognize Rare Disease Day 2018.
From the official website:
The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.The campaign targets primarily the general public and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.
Building awareness of rare diseases is so important because 1 in 20 people will live with a rare disease at some point in their life. Despite this, there is no cure for the majority of rare diseases and many go undiagnosed. Rare Disease Day improves knowledge amongst the general public of rare diseases while encouraging researchers and decision makers to address the needs of those living with rare diseases.
So here we are: reminding you of rare disease. Reminding you of families and friends impacted by rare disease. Reminding you that there is still so much to be known, to be researched, to be discovered, to be done.