February 28 was Rare Disease Day!!

 

Whoop-Dee-Doo!

Is that what you are thinking?  Hold on. Before you get all judgmental on me, let me explain why I believe Rare Disease Day to be a noteworthy event.

Rare Diseases- The Backstory

Passed by Congress in 1983, the Orphan Disease Act defined a rare disease as a condition that affects less than 200,000 people in the US. This piece of legislation provided incentives, like tax cuts, to encourage pharmaceutical companies to develop medications for rare or orphan diseases.

Here are some Rare Disease Statistics:

-There are over 7000 different types of rare diseases.

-25-30 million people in the United States are living with rare diseases. That’s 1 in 10 Americans.

-It is estimated that 350 million people worldwide suffer from rare diseases.

-80% of rare diseases are genetic in origin.

–95% of rare diseases have not one single FDA approved drug treatment!!

My son, Yohan, has CMT or Charcot-Marie-Tooth disease. Though it is known as an inherited disease, Yohan’s rare disease is the result of a spontaneous genetic mutation.  I guess these things gotta start somewhere. There is currently no way to slow down the progression of CMT.

 

Over the years, Yohan has literally tripped and stumbled, learning to manage this diagnosis and its symptoms. Progressive in nature, CMT gets worse over time. So just when you think you’ve reached status quo, WHAM, something else goes wrong. It’s the nature of the beast – the stuff that life is made of.

 

 

So, having CMT is bad enough, but then life gets even more complex when:

-You trip and break your kneecap.

 

 

 

 

 

-Your tremor is so apparent that a friend tells you that maybe cold turkey is not the way to go.

– Your fingers go rogue, making it impossible to grasp your cell phone before it falls into the port-a-potty. To make matters worse, you panic and attempt to retrieve it. Ewwwwwwww! But, it no longer works. Shit happens!

 

 

 

 

 

 

 

-You accidentally hit “send” on that that email no one was supposed to see. Monday morning is going to be a bitch.

 

 

 

 

 

 

 

–You are suddenly diagnosed with a second rare and progressive disease.

Yes. Really.

No one ever made a rule stating that one rare disease per person is the maximum you can have. Some lucky people get none, and others get 2 or even more.

This past summer (2017) Yohan was diagnosed with a second rare disease that has nothing to do with CMT. It’s called Keratoconus (Carrot-A Cone-Us), which also has nothing to do with carrots and a lot to do with cones.

With Keratoconus, the clear, dome-shaped tissue that covers the eye (cornea) thins and progressively bulges outward into a cone shape. It is also progressive in nature.

THANKFULLY, there is a treatment to slow down the progression. It’s called Corneal Collagen Cross-Linking (CXL) whereby Riboflavin or Vitamin B2 is used to strengthen the cornea. Unfortunately, this procedure is not FDA approved and still in the investigational trial phase. Non-FDA approved means that insurance will not cover the procedure, so I guess we’ll be paying out of pocket.

Rare diseases are expensive.

The shock of the diagnosis is fading, and we are all coming to terms with the news. Compared to foot surgery, this “should” be a breeze. But, I have trained myself never to use the word “should” because it sets unrealistic expectations, ends up undermining me and adds weight to my already present feelings of anxiety, stress, and lack of control in the world.

 

 

 

 

 

 

My first reaction to unpleasant or distressing news is to stick my head in the sand, even if I might suffocate. Instead of facing the facts head-on, I hide out for a while and do a lot of self-talking before I can come up for air and move forward. And I’m not even the one who needs the eye surgery!

How’s Yohan taking this? Yohan lives in the moment, in the now. And he is resilient. He doesn’t dwell on what might happen at some point in the future. He weighs the pros, the cons, seeks out good counsel and forges ahead. He must have got that quality from his dad as he sure did not learn it from me. On the contrary, I am learning from him….again. Funny how that happens.

Deep inside I know that whatever the future holds, we’ll all be able to handle the outcome. We always do.

But I first better get the sand out of my eyes or I might be undergoing a similar eye procedure!