Rare disease day

Today is a day that I have known about since I was 13 and diagnosed with a rare disease called Friedreich's Ataxia. It was a day that I knew existed but I tried my very hardest to block out of my mind and not think about. I thought that if I did that, if I didn't think about FA it wouldn't be real. But I had to accept my reality. I had a choice. How would I react to my life?

One of my main goals this year was to be more of an advocate for FA. To accept the battle God called me to fight. As we are approaching the third month of the year, I have quickly realized that the goal that I set for the year was also a daily goal. I have a choice whether I want to get out of bed each morning. I have a choice to be happy each day. It’s all about how we react.

I want to feel confident when informing people about FA and to raise awareness. I don’t want to feel embarrassed or shy when asked about my illness. 6 years after being diagnosed I am always learning and adapting to reality. 

Here are some insane statistics about FA. 

1 in 100 people carry the FA gene. If 2 people with the gene have children, they will have a 1/4 chance of having FA. 5,000 people in the US have Fredreich’s ataxia, and I am one of them. There are only 15,000 people in the world who have FA. 

I was one of the “lucky ones!”

Rare disease day may just be another day for some people but for other it’s such an important day because it allows the light to be shown on the rare ones. 

I have chosen to react to FA by staying positive and talking about it, no matter how hard or challenging it is because I have a voice and I want people to know it’s beautiful to be rare. 

 -M

Weekly recap

This past week has been long, busy, and rough. 

On January 17th, my mom and I flew to the University of Florida. I am enrolled in a study there for FA and go every 6 months or so. I kinda feel like an expert traveler when I go because we have been going for about 2 years. I was planning on recording my trip and making a video about it just because I think that would be more personal than writing about it but we were there for about 36 hours and barely had any time to eat! I had a full day of testing for the study. I do a vision test, the 9 hole peg test (which is extremely hard to do) and a heart MRI, as well as lots, lots more. I absolutely love going to Florida and even though when I am there I am pretty much a lab rat, I love seeing all of the doctors and nurses. They are the best!

On January 22nd, I had another full day of testing at UT Southwestern in Dallas. I just transferred from Pediatrics to Adults because I am now 18.  Since I have new doctors, they wanted new testing. I had a pulmonary function test, heart MRI, and a heart monitor that I am wearing for the next few weeks.

This was the pulmonary function test. I had to breathe into a tube while I was inside of the big plexiglass box.

My favorite place to eat right now is Zoës Kitchen so my mom and I went there for lunch. It was delicious as always and so was this enormous cookie!

 This was in the hospital lobby and it looked so neat so naturally I took a picture!

On January 25th, Both of my parents came down with the flu, it is running rampid this year. So I quarantined myself in my room, doubled up on immune booster and, washed my hands every 5 minutes. I did not want the flu and so I was going to do everything not to get it.

On January 27th, despite all efforts I got it. So now I am resting and watching lots of Netflix. And also just let me tell you that the flu is no joke and sucks.

On January 30th, I am still feeling very sluggish and still feeling weak, but I am feeling better than I was a few days ago which is great and can only mean I am on the road to recovery.

It definitely was a crazy busy week, but it was wonderful. And a huge shout out to my amazing mom who comes with me to all of my appointments and took care of me when she was still sick too! She is incredible and I love her to pieces! 

I hope everyone had a great week too!

-M

Overwhelming Tuesdays...

It is Tuesday night and I am soaking in the bath. I love baths. I love lightning a candle, putting on some music, and just relaxing, thinking, and praying.

You would think that being alone with your thoughts could do more harm than good especially if you are an over thinker like me, but I seem to enjoy it very much. It’s like just having a conversation with God about just everything, every little thought running through your head.

With it being a new year, it can symbolize a blank slate or a fresh start but it can also be overwhelming and daunting. For me, there are so many things that I want to accomplish or goals that I want to fulfill. 

Tonight as I sit here and write this, I think about how amazing our Lord is. It just astounds me how He just knows. His presence puts my mind at ease; my heart at peace. 

I used to think that if I wasn’t sitting down and deticating specific time to “pray” I wasn’t doing it right, but in all honesty...what is the right way to pray? Or that I was a bad Christian? 

Sometimes just saying “Lord you know what is on my heart, and I trust in you to lead me to what you know is right.” It doesn’t have to be an elaborate prayer with a ton of fancy words. I am always in a state of prayer, constantly having small conversations with the Him can be the exact same or even more than getting on your knees and praying. 

And that is enough. 

I hope this message helps someone out there feeling the way I did.

Happy Tuesday!

-M

An end becoming a beginning

FA goes a little something like this.

Sleeping for 13 hours but not feeling refreshed or rejuvenated whenever you wake up, having to go lay down and rest every 15 minutes while doing your hair and makeup, feeling like you ran a marathon just by walking up or down the stairs, taking 20 minutes to carefully change your earrings.

Having FA is a constant mind game of planning out what is worth using my energy on that day. Mustering up the energy to walk from the house to the car. It wears me out to brush my teeth on some days. Or having to say no to something because you are literally running on empty. 

When people say “I’m tired” they truly do not understand the definition of those words. 

I don’t use my wheelchair because I can’t walk. I use my chair because it allows me to not expend all or my fuel getting somewhere and not being able to enjoy it when I get there. 

For a while I looked at the chair as an end point. I looked at it as I was giving up. I looked at it as a bad thing but it was quite the opposite. The chair is a tool, an energy saver, and a beginning of something new.

Sometimes you have to loose something that is valuable to see and know something bigger and better exists. 

It’s 10 days until Christmas! (I don’t know if anyone else is counting but I sure am!) As the holidays are a special time, they too symbolize an end and a beginning. An end of a year, and a beginning of a life, the birth of our savior. 

I take this time to reflect and really think about my year. I have learned so much. God is working in my life and teaching me so many lessons. Some that I like and some that I am not to fond of. Some of the lessons have caused pain and heartache, but even though the obstacles I have walked through may have not been part of my plan, I have been made so much stronger through it all. 

I can say that I have become so much more confident in the Lord, knowing I live my life for Him and only Him. In that I have become more confident in myself. I truly believe He holds my hand as I walk through the fire and knowing that brings me peace. 

Here is to an end become a beginning...

-M