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. 

Lucky 13

Tomorrow is a special day for me. It would be what I call my second birthday. You might be thinking it’s the day that I accepted Jesus into my life, but it is not. This day came way before that ever happened! October 16th marks the day that I received my bone marrow transplant. This procedure essentially changed my life forever.

Born Rare

I was born rare. We are all different and that is amazing! We should not be the same because that would be super boring!! During my early years of growing up, I had many difficulties. I was not meeting the developmental markers that kids typically meet. My parents knew something was up and I am so thankful they did not give up. Eventually they got a diagnosis of me having Alpha Mannosidosis at 3.5 years old.

Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase…The symptoms and severity of the disorder are highly variable. Symptoms may include distinctive facial features, skeletal abnormalities, hearing loss, intellectual disability, and dysfunction of the immune system. 

Cited from: www.rarediseases.org

Every person who has this rare disease, has a different variation. It is similar to autism as it has a spectrum of its own. Some are worse than what I dealt with while others are better than what I dealt with. This disease progresses and overtime it will affect bones, the brain, and muscles.

Decisions, Decisions…

There are not many treatment options. Today, in certain countries you can either do a Bone Marrow Transplant (BMT) and/or Enzyme Replacement Therapy (ERT). In the US at that time and to this day, the only option is BMT. My parents had to make the decision to go forward with a BMT or let the disease run its course for the rest of my life. BMTs are very risky and my parents knew that going into this. If they had gone with not doing anything, there was a possibility of me being in a wheel chair, not communicating, psychosis, etc. My parents knew the risk of going the BMT route, but saw the opportunity it would give me in possibly having a somewhat normal life.

Trust in the Lord with all your heart and lean not on your own understanding; in all your ways submit to him, and he will make your paths straight.

Proverbs 3:5-6 NIV

And so with that, I had a BMT a year after my diagnosis at 4.5 years old. I was the 13th person in the world to receive a BMT for Alpha Mannosidosis. My memory has been affected with what I was born with, so I have no memory of the BMT. I have one memory that God gave me while being in the hospital and that was me smiling. Alpha Mannosdosis has severely impacted my memory. I am quite happy to not remember being in the hospital during that time and to have that happy moment from God.

Life Today

It has been (almost) 18 years since that BMT and I am so grateful, thankful, and joyful that my parents chose to go with having me go through it. This was most likely the hardest decision of their lives. It has impacted my life for the greater good and now is allowing me to impact people around the world. Even though, there have been many ups, downs, twists, and turns I have been granted a life that seemed very much impossible.

I do still have some challenges to this day, but that’s due to the Alpha Mannosidosis progression that happened before the transplant. I have also been in several car accidents and they did not help with what I was already experiencing. Even though my life is not the ‘normal’ that everyone faces, I am thankful for the life God has given me and everything that He has put into my path.

For you created my inmost being; you knit me together in my mother’s womb. I praise you because I am fearfully and wonderfully made; your works are wonderful, and I know that full well.

Psalm 139:13-14 NIV

I am constantly doing different things whether it be with my church, cooking, reading, writing, spending time with friends, or speaking about Alpha Mannosidosis. This would not have been possible if I never received the bone marrow transplant (almost) 18 years ago and I am so excited to keep doing the things that no one in my family thought I would be capable of doing.

Where Have I Been? – Life Update

Life Happens

Life has gotten a tad crazy. Hence, me not writing anything for the past couple of months. I could bore you with every single detail, but I won’t do that! I will be writing about what the past couple of months have consisted of and where we are going in the future.

March Update

I haven’t written anything since March which is mind blowing! I am here writing this on the last day of June. For me, March was a very crucial month. I virtually went to a Tony Robbins seminar, started learning more about Alpha Mannosidosis (what I was born with), started process with new doctor for brain stuff, super involved with church activities, and read two books. There were a lot of moving parts to all of these exciting events.

April Update

For the month of April, it was incredibly awesome to see how God was moving through everything that I was doing during the prior months. We had gotten some answers in regards to what I feel on a daily basis due to my brain. I started going to my new doctor consistently, which has paid off! Chi Alpha ended for the school year which was a big sad. Started sewing again by making repairs to clothes. Wanted to read several books, but I did get to read one book!

May Update

Fast forward to May and it was a pretty non-eventful month. Went to the beach with my dad a few times, worked on establishing new friendships, and went to some bible studies for the last time. I sewed a dress (the one pictured) and threw a pretty awesome surprise graduation party for my mom. I did not complete any books, but was working on some.

June Update

We have finally made it to June! June has served us a plate of joy and peace with a side of frustration and tears. My birthday was June 3rd and I had the amazing opportunity to get involved with the youth ministry at my church the day before my birthday. I spent months praying for this day to happen and it was everything that I ever had wanted to experience. I had a blast and now I am an official youth leader. I’ve spent the month hanging with friends, playing tennis, and adapting to life. I also was able to complete one book! Fun fact: a day after my birthday, I started taking a social media break that will last the whole entire summer.

My doctor that I go to is very intelligent in what she does and is always looking into things if they aren’t looking right. We (my parents and I) found out that the way my brainwaves are…indicate a lack of blood flow in the left part of my brain. She believes it could be from what I was born with. With this new information, we are taking steps to help increase the blood flow. I am working on eating a clean diet, not overdoing it, and having low stress levels.

This past month I have switched from the typical American diet, but a tad healthier (organic foods) to a plant-based and gluten-free diet. In all honesty, I have been working towards this type of lifestyle since March. Maybe I will make some blogs about my plant-based meals?? For now here are some pictures 🙂

One of the most difficult things I am encountering at the moment is learning how to not overdo it. I have always had to work harder than the typical person due to the various cognitive issues I’ve experienced. Due to this, I am so used to pushing and constantly doing things. I am working on figuring out a routine that will allow me do things and enable me to not overdo it. It’s hard for me to know when to stop and when to keep going.

Next Steps

So… I said earlier in this post that it would also include some next steps and where we are going. With looking at my routine, I have come to the realization that I want to include writing. I absolutely love writing and it’s one of my passions that I did more! With saying that, I will definitely be writing more. Not exactly sure what you will find here, but you will find new posts! I will possibly try to post one blog every week (probably Friday afternoons), if not it will be one blog every other week.

I am looking forward to writing more, sewing, learning guitar, making food, and will be working on a page that will have information on what I was born with (Alpha Mannosidosis) shortly. I hope to have it up and running by September or October! I want it to be a space for people to learn about it whether they or their child has been diagnosed or for the everyday person to learn something new. Excited for all of these new changes!

Thank you for taking the time to read this post! If you have any suggestions on what I should make next, write about, or anything in general, let me know in the comments! I’d love to hear your thoughts. I’ll see ya soon on the next blog post 🙂