Rare Disease Day 2022

Rare disease day is a special day for everyone who has a rare disease or knows of someone with a rare disease. There are over 300 million people living with a rare disease. Some rare diseases do not have names and/or treatment options. To find out more info about rare disease day please visit: https://www.rarediseaseday.org

Welcome back to the blog!!

Hello!! It’s been way too long since I have written a blog post. In writing this, God has just shown me what He has done in my life over the past 22 years. I am so thankful with where God has me and everything that I have had to go through. Not everything has been easy, but He has a greater purpose than I could ever imagine. He uses everything for His good! If you have any questions about what I have gone through or literally anything, I would be more than happy to answer! I love sharing my story with others 🙂

My Story

Wait, you were born with a rare disease??

-yes, it is called Alpha Mannosidosis. It’s a lysosomal storage disease meaning there is buildup of toxic materials in the cells body due to an enzyme deficiency. My body was essentially missing one enzyme and that particular enzyme created an issue with all the cells.

How could something like this happen?

-it’s due to genes. It’s a genetic disease. My parents had a 25% chance of having a kid with Alpha Mannosidosis due to having the same mutation on the MAN2B1 gene. Crazy stuff, I know!!

What happens overtime with this disease?

-Alpha Mannosidosis is a progressive disease meaning, it will become worse overtime. I personally have had symptoms of: hearing loss, cognitive issues, memory issues, processing issues, balance issues, muscle issues, bone issues, etc… This disease can lead to being in a wheelchair and having difficulties communicating and everything becoming more difficult.

Yours doesn’t seem to be progressing, why??

-There are treatments that are not technically fixes due to still being in trials, but I was given a bone marrow transplant to stop the disease from progressing. It was a long path, but was worth it. My life changed forever and I’m so thankful that I had to go through that rough journey.

Is bone marrow transplant the only option?

-yes and no. In the US, bone marrow transplant is the only option. In other countries, people get enzyme replacement therapy. The downside to that is it is a continual process and is super expensive.

How long ago was your bone marrow transplant and do you have any challenges to this day?

-18 years ago as of October and yes I do. I have had some bone issues, but majority of my challenges are more focused on my brain. The bone marrow transplant stopped the disease from progressing, but whatever was done was done. I have challenges related to my memory, processing, and a few other things.

Will these challenges ever go away?

-simple answer is we do not know. Right now, I am doing a therapy called neurofeedback and it’s essentially training  my brain how to act. There’s been so many advances in the idea of neuroplasticity and how one day I may have the possibility of having no issues related to my brain. I have prayed about this, given healing within my dreams and people have also told me that God told them that I will be completely healed. We are believing that one day I will be healed.

Whenever I see you, you have a huge smile and an amazing joy about you, how is that if you’ve gone through all this stuff?

-One answer for this… God. He has done so much that would be way too much to write within this. He has taken me from the bottom of bottoms and has given me everything that I would ever need. I have experienced the fruits of the spirit because of leaning to Him in everything. 

What would you say has been the best thing to happen to you?

-there are millions of things that happen to us every single day. I would say that it was God bringing me to church through my best friend and meeting me where I was. Not many people know this, but I’ve always wanted to remember something from when I was younger. I have absolutely no memory due to what I was born with. My memory even from a few years ago is nonexistent. But when I went to church with my best friend 3.5 years ago, God showed me a little snippet of when I was in the hospital. I was looking at myself and I was as happy as could be. My parents said that I was always a happy kid in the hospital. They couldn’t believe it, but to me it wasn’t anything out of the ordinary because I was new to this thing we call life. 

Before you go…

I just want to leave y’all with this.

I am a child of God who happened to be born with Alpha Mannosidosis. Of course the journey has been hard, but we all have challenges of our own. We are all unique and that is absolutely amazing. God has created us to work together in this world. Rare disease day is just another day, but this day shows us that even when we are different we still have our own strengths. 

2 responses to “Rare Disease Day 2022”

  1. Sarah this is so beautifully written, I remember when you were diagnosed, everyone was so worried. Then when you had your bone marrow transplant and all that entailed, you were so brave, God Bless you and your family. Love you

    Liked by 1 person

    1. Thank you 💕 means so much!!

      Like

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