Kerry's Causes

Rare Disease Day, 2014

As this shortened month comes to a close, I am eagerly awaiting spring, and I know I’m not the only one. February is a fairly busy one for all the time spent on recognizing a race or group of people: from Black History Month, to White Cane Week, and even International Polar Bear Day. You throw in there my turning the big 30 this year and the shortest of all months packed a lot in for only 28 actual days, but I am feeling blessed that my rare disease hasn’t stopped me from reaching this latest milestone when others with different rare diseases aren’t so lucky as me.

Since 2008, the last day of February has been known as Rare Disease Day. Internationally the word on RDD has been spreading. I however, just recently heard about it and just in time for this blog.

A rare disease, illness, or syndrome is pretty self explanatory. It may also be known as an “orphan disease” because of the small number of people around the world who might be living with it; the name kind of similar to an “orphan” star or planet, precious or one-of-a-kind. You say Senior Loken Syndrome and most people look at you with a uncomprehending stare. I know better than anyone what that’s like.

Then, when I met Bryan, even before we started dating, I learned what that feeling is like because I had never before heard of CMT, Charcot-Marie-Tooth and I still have a hard time keeping track of its causes and description, but I see the symptoms up close and I see how they manifest themselves. It’s these rare diseases which come with complicated explanations and complex genetic explanations.

That is one of the things that we bonded on right away, even during our initial online correspondences. I wasn’t shy in telling all about my blindness and kidney disease, both of which are a part of Senior Loken. The more I opened up the more he began to tell me about CMT and how it had effected him and his brother and their entire family. We related on this most personal of things.

My parents learned, when I was very young, that I was blind and the eye condition was known as Leber Congenital Amaurosis. This eye condition is fairly common and effects the retinas, but it wasn’t until I was twelve years old and diagnosed with kidney failure that they started to think there must be something else going on. The kidney disease part of the syndrome is called Nephronophthisis: where the kidneys in childhood begin to develop fluid-filled cysts, causing excessive thirst, weakness, and frequent urination, eventually causing the kidneys to shut down completely.

I was a young teen at the time, but I remember seeing some geneticists at Sick Kids Hospital in Toronto. The two conditions weren’t a coincidence. There had to be a connection.

Not long after, a third condition was discovered (scoliosis), suspected to also be one of the features of this syndrome that had barely been heard of before. There wasn’t much to be found and still isn’t, even with the internet and all the available information today.

I was obsessed with my prognosis and future for a while around the age of sixteen. I was reading the little there was on Senior Loken and I was dealing with a lot of pain and depression issues. I started to become scared that there was something else to come, something that could shorten my life span dramatically.

From what I was reading and hearing, some cases weren’t detected in time and children were dying of kidney disease before the proper steps were taken. I let thoughts about these things weigh on me, as teenagers tend to do, but as the time wore on I dealt with my fears and began to focus on the work of living.

It’s always at the back of my mind of course, the unknown of it all, but that’s kind of what us with the rare diseases of this world must learn to deal with. It takes time to develop the statistics and to collect the evidence on these things.

Now I learn all about CMT because it effects the two newest people in my life that I love. Bryan and his brother seem to handle their more recent diagnosis quite well, but with everything in life, there is always the initial shock and the educating oneself. They have each other to lean on when the times get rough, just as my brother and I have always had each other.

I strongly believe in spreading awareness of a day like today and I do it for others, the ones I love, not only for myself. The list of just such rare diseases seems to be never-ending; so much suffering going on for people all over the world. They often seem to be named for the people who stumble upon them, such as Churg-Strauss Syndrome. I recently met someone who deals with not only this rare disease, effecting blood vessels, but also with chronic migraine. It’s often not just one thing, the definition of a syndrome being: “a group of symptoms that together are characteristic of a specific disorder, disease, or the like.” It can be different for everyone, but these diseases deserve just as much awareness as diabetes, MS, or Lupus.

There is a lost and helpless feeling that you feel when you are told you are one of very few people in the whole wide world having to face something. The lack of understanding, knowledge from even the most highly trained specialists, and the idea that there are hardly any proven treatments and no possible hope of a cure any time soon because of the rarity of the situation. All we can do is look for support and hope that, in time, more will be discovered.

So I am taking this one day out of the year to write about my personal experience and hope that word will spread. I am writing this to give a voice to all those orphan diseases out there and the human lives left effected.

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3 thoughts on “Rare Disease Day, 2014

  1. Kerry, I’ve never heard of either disease, so thank you for sharing this in your post. I’ve also tweeted the link as I hope your post might help others facing less-common diagnoses.

    I love the line, “I dealt with my fears and began to focus on the work of living.” You sound like a formidable young woman, and I look forward to reading more of your writing!

  2. Pingback: Rare Disease Day, 2015: Ventilation | Her Headache

  3. Pingback: Rare Disease Day, 2016: Even Rarer Than a Leap Year, #RareDiseaseDay | Her Headache

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