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!
bestfoot4wardblog 
I forgot to acknowledge Rare Disease Day myself. Thanks E for the reminder of the Day and for us all to be mindful of others realities being the path untraveled.
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Love you Sara Jane. I am one of your biggest fans. Air kisses!
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Thank you for sharing.
Ronaldo
“Mission Statement Here”
Ron Plageman
303.929.9647
Pressuredrop700@gmail.com
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Thanks for reading my blog Ronaldo! Peace and love!
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Thanks for the info on rare disease day. Strange that these inherited issues were not inherited and that in itself hopefully will be the answer to finding treatments. Ive often wondered about the unfairness of the FDA rules that hinder the development of answers while a trip to like Canada embraces the opposite for rare conditions. Love to all that are struggling with finding help.
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George,
Thanks for your love and support. And thanks for reading and sharing. You are the best bro ever!! xoxo
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I always enjoy reading your blogs Elizabeth. I do hope Yohan and of course yourself are doing well today. And keep up the good work of course with your blog
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George,
Thanks for your love and support. And thanks for reading and sharing. You are the best bro ever!! xoxo
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Dearest Quentin,You are my super hero!
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I am your biggest fan, Quentin! Thanks for commenting. Better yet, I am honored that you are reading my blog posts. Be well!
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Wow! I too forgot to acknowledge Rare Disease Day, but in my defense life has been quite crazy as we pick up the pieces following the passing of my father.
With all of that said, we continue to power on in our neck of the woods for our own CMT Warrior, Liam.
As always, our thoughts are with you Elizabeth, Yohan & family.
Sending positive vibes, healing energy & prayers your way.
With love & support,
The Perry’s (Dawn, Bill, Liam & Laila)
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Condolences on the passing of your father. It’s so hard to lose those so cherished and loved. Love to you, your family and bold and bright Liam. Together we will conquer!! Nothing can stop us now! Thanks for reading and keeping in touch.
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Thanks for the impulse you have to share so frankly and openly your family’s travails and triumphs, Elizabeth. Yohan’s parenting will stand him in good stead always, I would think. Re ‘the nature of the CMT beast, I woke up this morning with my left ankle twisted painfully inward at an awkward angle like never before. Whatever’s next, let’s all persevere.
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Persevere we shall, because we have each other. And every day brings hope and promise. Hope the ankle is just one way f those annoyingly passing issues. Be well, my friend.
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I am a CMT sufferer. I have one of more tame strains.
I was born with it but not diagnosed until age 11.
At age 15 my then doctor said at 20 I would be in a wheel chair.
I’m 34 and still hold a 9 to 5 job.
I’m not saying life been easy but I learn to adapt and get on with it!
Mine came from my granddad, he had polio which activated a dormant gene and my mum has it and got passed to me.
I have a wonderful supportive fiancee, although sometimes she takes over if I struggle rather than let me find a way.
Still love her to bits though.
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You are to be congratulated and I think admired for Believing in yourself that you can do anything and I commend you for making a difference. I think you just may be interested in this Utube clip of a speech because it reminds me of what you have accomplished. Thanks for posting this. Click Here to Watch the Full Speech in HD on Youtube: https://www.youtube.com/watch?v=Bg_Q7KYWG1g
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I love the blog.
I’m under the miserable title of CMT 1A. I own it, it doesn’t own me but boy does it try.
Thank you for the sharing of info…so many people don’t understand. And kudos to our families and friends that do, and support us.
Much love-
~Kevin
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Kevin,
Thanks so much for taking the time to comment on my blog. You are so kind. This disease does fight back, but as we join hands to spread awareness and fund research with the help of our friends and communities, CMT does not stand a chance! xoxo
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Knowledge is power! I accepted my fate but when my son was born my attitude has changed. I’m keeping all fingers a if I could, toes crossed that this passes him over.
Please keep us posted on your journey, you’re not alone!
Much love-
~Kevin
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