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.

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