February 29, 2016

Rare Disease Day 2016


Today is always a day that hits me hard. It's eye opening and a punch in the gut. Inspiring and disheartening all in one. It's a day that finds me thankful and sad. 

Today is Rare Disease Day.

When I was diagnosed with Budd Chiari Syndrome, my doctor told me it was a rare liver disease. I had no idea what he was actually telling me. What he should have said was something like,

You will lie awake at night and wonder what life is like with this disease. And for years you will not know anyone else with it. 

Some days you will hold you babies and plead with God to let you have a lifetime with them, knowing that time is something you might not have.

One night you will finally find a blog, by a person who has Budd Chiari Like you, but you will notice there has been no posts for years and you will assume the worse.

Doctors will tell you what it's supposed to feel like, but you will also be the only patient they have ever treated with this disease.

You will feel alone, even when your friends and family surround you in support. Because not one of them knows what it's like. 

Some days you will be so full of hope that you feel like you could take on the world, and the next day, you will feel defeated and drained of the hope you had the day before.

And eventually when life goes on, the devastation of "being sick" wears off on them and slowly but surely you really will be alone. 

Yeah, that's what he should have said.

But he would also have to tell me that someday I would decide to share my life with Budd Chiari Syndrome. That slowly but surely people would find my blog and other social media and they too would have this rare disease. And that over the years I would befriend some amazing people who knew exactly what I was talking about.

They understand that stabbing pain. They understand the frustrations of taking a medication that only made you feel worse. The monthly and sometimes weekly blood draws. We are a rare bunch. In all different stages of the disease. Some were instantly sick. Some had transplants immediately and others only shunts. One had a transplant only for the clots to form again! Many of us are mothers and wives. Some are more active than others. We are all different yet the same. Because we all belong to a rare club.
And suddenly I wasn't alone anymore.

So how rare is it? Honestly, as much as I have looked I cant find a solid answer. I do know that as far as patients who are listed for transplant due to Budd Chiari is 111 plus me. In the whole US. I'm sure there are at least that many people who like me have no idea they even have it. And in our FB group there are a whopping 320 of us from all over the world.

I should add that my Budd Chiari Syndrome was caused by a blood disorder that only 0.01% of Americans have. I am homozygous for the Prothrombin G20210A mutant form of Factor 2. Sounds fancy right?

If you or a loved one have been diagnosed with a rare disease a be sure to check out Global Genes and NORD. Ask your doctors, if there are any support groups or other resources they recommend. Remember that there are going to be good days and bad.  There is a whole community of other rare diseases here to listen and share stories with.  Do that.  Share your story.  Because you never know if there is someone else just like you, worried that there is no one else out there like them.  You are rare, yes, but never alone!


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