International Rare Diseases Day

In my almost 8 years of being a parent, I have always been pretty relaxed about childhood illnesses and injuries. Sniffles and stomachaches and chicken pox are all a part of being a kid. Most kids get at least one set of stitches at some point, and maybe a broken limb or some torn ligaments. My most recent trip to the Emergency Room involved my daughter having to have her tongue stitched up after she went down the slide at the playground a little too fast and bit her tongue as she reached the bottom. My kids are accident prone, but also pretty brave. The doctor wanted to put my daughter under general anesthetic to stitch her tongue but she was having none of it and was sure she could lie still while he stitched it up for her in the ER. She was right, she sat still, got stitched up and was still able to be Snow White in her schools kindergarten production the following week.

Both of my kids are pretty similar when it comes to these things and I was the same as a kid. I tore the ligaments in my ankle in primary school trying to prove to myself that I could jump down an entire flight of stairs. I was on crutches for a couple of weeks, but I remember being pretty proud of myself that I had made it all the way to the bottom step from the top. My sons soccer coach tells me that he has the ideal personality to be a goalie because he doesn't think about getting hurt and just throws himself around the goal without much consideration of what could happen to him. 

However, in September when I discovered that I have Granulomatosis with polyangiitis (GPA), every childhood sniffle and ache was suddenly not just a sniffle or an ache. I am so thankful that I only developed GPA as an adult but I have seen children as young as my own receiving chemotherapy at the same time as me for similar diseases to mine. I cannot imagine what it must be like as an 8 year old to have to live through what I am living through. As a mom, I take every complaint seriously now. I know that not everything is serious and that most things will never develop into much more than a sniffle, but now that my eyes have been opened to the world of rare diseases I can't help but collect every health complaint that my kids have somewhere in my memory in case one day it is a piece of information that could save their lives. 

The 29th of February 2016 is International Rare Diseases Day. If you had told me that a year ago it wouldn't have meant much to me. I'm pretty sure I couldn't even have named one rare disease. There are over 6,000 rare diseases that are known about, and many of them affect young children. Rare diseases need very special doctors - not doctors that think they are knowledgeable, but doctors that are willing to say 'I don't know'. I had a very special team of doctors that helped with my diagnosis, and one of the reasons why I was diagnosed in time was because many of them, highly qualified and experienced specialists in their own field had to say day after day, 'I don't know'. They were humble and willing to admit that they didn't know what was wrong with me and couldn't treat me, but referred me on to someone else who could. My rheumatologist is the doctor that diagnosed me, and I am the only patient that she has ever met with GPA. I list my symptoms for her every time I see her and together we have to try and figure out whether they are related to my disease or not. When she started treating me, she brought her iPad into the ICU and explained the course of treatment by showing my family and I articles from the Vasculitis foundation in the UK. I am a case study of the resident pulmonologist and another one of the doctors who is currently studying to complete his specialization in rheumatology. 

Do you know someone with a rare disease? Do you have a healthy child that, like my two children, doesn't have to worry much about sniffles and chicken pox because they are just a normal part of childhood? This 29th of February, why not participate in helping to raise awareness in some small way? Rare Diseases South Africa runs a project called the 'rare bear project'. You can purchase a bear for a child who has a rare disease in South Africa and it will get delivered to them. So even if you don't personally know someone with a rare disease you can touch the life of a child who may be fighting a very difficult fight.

In South Africa you can have your school participate in the coloring contest to support rare diseases. Find out how you can get involved in your community to help raise awareness -http://www.rarediseaseday.org/.

Do you know someone that aspires to be a doctor one day? Encourage them to be the kind of doctor that is willing to say, 'I don't know but lets find out together'. We could all use more doctors like mine in the medical field - one day you too may need a special doctor to stand by your side and learn together with you.

To all the kids with rare diseases who aspire to be Snow Whites and soccer goalies but can't because of the limits of their disease - never give up dreaming, and may you too find your special doctor who believes in you and fights your disease together with you. And to the parents - be brave and never give up hope.