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Things I Learned After Being Diagnosed with a Rare Disease

November 1, 2017

This post was originally featured in Harness Magazine.

Six years ago, at the age of 18 years old, I was diagnosed with Gaucher Disease (GD) Type 1. GD is a rare lysosomal storage disorder that results from a hereditary enzyme deficiency. Before my diagnosis, I experienced some of the most common symptoms, which are enlarged liver and spleen, low blood counts, fatigue, anemia, bone pain, easy bruising, and a lot of bleeding (ie. heavy periods and nosebleeds).

It’s undeniable that my journey with GD has been a long one; since being diagnosed six years ago, I have not only learned more about the disease, but I’ve learned a lot more about myself.

I wrote this article to share the most important lessons I’ve learned throughout my journey with GD. This article is not written with the intent to throw a pity party or ask for sympathy; it is simply to share the lessons I’ve learned with others who may need to hear it. You don’t have to have GD to benefit from this list. We all have our own unique struggles and obstacles in life. Maybe your struggle isn’t GD; maybe it’s mental illness, anxiety, self-doubt, or depression. No matter what you are personally going through, I’m sure that, in one way or another, at least one of these lessons will resonate you as well.

1. My struggle gave me strength. I love the quote, “I am thankful for my struggle because, without it, I wouldn’t have stumbled across my strength.” This is 100% my experience with GD. Being diagnosed with a blood disease is no easy feat but it caused me to demonstrate strength that I never knew I had. For example, I used to be terribly afraid of needles, but this changed when I had to start getting enzyme replacement therapy (ERT) every two weeks. From having a bone marrow biopsy, several MRI’s and infusions to getting a lot of blood drawn, everything happened so quickly that I had no choice but to get used to it. I bravely had to face everything I used to be afraid of; it was my new normal. After my diagnosis, things were quite different than what I was used to, but I simply had to adjust and continue living my life; a life that I never thought I could’ve even handled before being diagnosed, proving that I am much stronger than I ever thought I could be.

2. Appreciate life. When I was diagnosed, I was reassured that life is short and that I need to be thankful for everything. It was hard to come to terms with at first, but I knew that God put me through it because he knew I could do it. Even though I have GD, I am aware that my experience with it could’ve been much worse. I could’ve been diagnosed with GD Type 2 or 3 (which are life-threatening) or my symptoms could’ve been much more severe. For these reasons, I am so grateful and do not take my experience for granted at all. Yes, it can be difficult living with GD, but I am truly thankful for the life I have.

3. I am not alone. There’s a whole community of other GD patients like me. The GD community is amazing and I wish I would’ve become a part of it sooner. It wasn’t until I started a blog dedicated to sharing the stories of those affected by GD, that I realized how many other GD patients there are. Everyone in the GD community is so loving and understanding. We encourage each other and cheer each other up on our bad days. It’s a comforting and refreshing feeling to be a part of a group of people who totally understand what I’m going through. I’ve had the pleasure of connecting with GD patients from all over the world; every single person I’ve met has been wonderful and I’m blessed to be part of such a close-knit community that really feels more like a family.

4. It’s important to tell my story. After my diagnosis, I was reluctant to tell my story. I didn’t want people to know about my condition, out of fear that I would be treated differently or pitied. Whenever I had to leave school to get infusions, I would tell my friends I had to go to the doctor’s for a check-up. None of my professors or classmates knew. The only people who knew were my family, close friends and coaches. It wasn’t until three years after my diagnosis, that I decided to share my story with the world. I felt that it was more important to spread awareness about this rare, incurable disease than to stay quiet about it. I am so thankful that I began voicing my experience; it has opened so many doors for me and has enabled me to connect with other GD patients. So many people have thanked me for sharing my story because, either they never knew there were other people like them, or they didn’t know that GD existed! One of the essential things I’ve learned from this experience is that we are all unique and it’s important to share our perspectives. You never know who your story may resonate with, so don’t stay quiet!

5. Maintain a positive outlook. It was so easy to feel upset or discouraged when I was constantly going to treatments or having procedures done. Whenever I was in a bad mood before getting an infusion, I had to remind myself to be thankful that I was able to have treatment at all. Often times we are tempted to question God, asking “why is this happening to me”?, but I choose not to do that, and, instead, I choose to be thankful for my experience. I know that I am beyond blessed to have access to good insurance, hospitals, doctors, nurses, case managers and a supportive community, which I do not take for granted. I’m thankful that I’m not dying. I’m thankful that I get to see another day and live a “normal” life despite my illness. So even when I’m feeling sad, extra tired or having a little bone pain, I think about the positives in my life and I am always grateful.

To everyone who is dealing with, not only a rare disease but any type of illness or struggle, know that you are not alone. I know that it’s hard; I know it affects your confidence; I know it can make you question “why me?”. But there is always a light at the end of the tunnel; my experience is proof of that. I can honestly say that I’ve learned and continue to learn so much from my experience with GD and I would love to know what lessons you’ve learned from your personal struggles as well. Please share in the comments.

You can read the full story of what lead to my diagnosis on the National Gaucher Foundation website.

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  • Reply Addi November 1, 2017 at 10:04 am

    When I was 18 I was diagnosed with cancer and went through a year of treatments, blood transfusions, chemo, radiation, blood work! The whole deal! It’s a lot to handle but you are so right about it revealing my strength. God showed me how powerful He is in my weakness and for that I am thankful.

  • Reply Bryana November 1, 2017 at 8:41 pm

    Wow, thanks for sharing such a powerful story. I also have a chronic neurological condition. A lot of times I feel like I’m alone. Stories like this encourage me.

  • Reply Joleisa November 2, 2017 at 11:30 am

    I am so impressed by your bravery and strength! Well done. We have options when life knocks us about and I must say I admire how you chose to deal with things. Continue to be an inspiration to us.

  • Reply Herlina Kwee | Making LOL November 2, 2017 at 9:21 pm

    Thank you for sharing your story and become an inspiration for all of us. I went through a major depression last year for losing the life that I had built for 16 years. Like you, I started my blog as part of telling my story and my own healing journey. Even though things haven’t change much, I can now say that it is well with my soul and trust in Him again that there is a purpose for every trial we go through. Stay strong and maintain that positive outlook.

  • Reply Christine November 3, 2017 at 10:04 am

    You are such a strong woman. Such a inspiring post. Thanks for sharing this and continue being positive 🙂

  • Reply Katie @ Book Ink Reviews November 3, 2017 at 4:11 pm

    This was so beautifully done. Thank you for this.

  • Reply Koen November 4, 2017 at 8:51 am

    That is both a powerful and inspiring story. I try to understand that everyone I meet in life fights a battle I know nothing about, and this proves that again. Thank you for sharing!

  • Reply Jess November 4, 2017 at 4:49 pm

    Thank you for sharing your truth! Often, it’s realizing that we and others need community when dealing with these ongoing and life-altering changes. Your words are encouraging and your positivity is a blessing for us to witness!

  • Reply Duska November 4, 2017 at 5:33 pm

    Super post. samo tako nastavi 😉

  • Reply moumita November 5, 2017 at 4:01 am

    A story to give strength to all

  • Reply Tammy November 5, 2017 at 7:00 am

    Such sweet and sincere encouragement! Thank you. I would say my struggle has been with anxiety and depression, and blogging has been very therapeutic for me. Blessings in Christ,

  • Reply Courtney November 5, 2017 at 1:08 pm

    Wow- thank you for sharing your story. It is so nice to see others being real and talking about such deep struggles. It makes the rest of us feel like we are not alone.
    Courtney ||

  • Reply Rhonda White November 5, 2017 at 4:24 pm

    Thank you for telling your story! I loved that quote! “I am thankful for my struggle because, without it, I wouldn’t have stumbled across my strength.” I also appreciate your positive look when you said, “God put me through it because he knew I could do it.”

  • Reply Heidi November 5, 2017 at 7:09 pm

    Thank you for telling us your story! More people need .to hear it. It’s encouraging to hear people rise above and continue to move on. 🙂

  • Reply Brittany November 6, 2017 at 2:18 am

    Thanks for sharing your story! It can be hard to share personal health issues but it’s great that you can share it so other people can relate!

  • Reply Mo November 6, 2017 at 9:24 am

    I can’t imagine but so happy you’re finding the strength to shine

  • Reply Mirlene November 6, 2017 at 9:33 am

    Wow! Thank you for sharing your story. Sometimes we take things for granted, and forget to realize that others deal with different battles everyday. Such an inspiration to many. Keeping pulling through. God has something in store for you.

  • Reply Genesis November 6, 2017 at 9:51 am

    This is beautiful! Thank you for sharing your story. Its so refreshing to see someone who hasn’t had it easy persevere and think positively!

  • Reply Kai November 6, 2017 at 10:08 am

    My mum passed away when I was 13. It is amazing how many things you can learn when tragedy happens!

  • Reply Maggie Abbonizio November 6, 2017 at 10:20 am

    What a great post! Reading about all the challenges that people go through (that you may not have to think about on a daily basis) is always inspiring! Keep us the positive outlook and keep telling others of your experience!

  • Reply Laura aka The "SpunkyDiva" November 6, 2017 at 10:27 am

    Awesome story! I’d love to feature this on my website. Check out the interview I did with another fellow “Warrior Diva” who had cancer twice and lost both parents before the age of 30. If you are interested, let me know!

  • Reply Marta November 6, 2017 at 10:31 am

    So impressed with your bravery. Your story is so touching and keep going! 🙂

  • Reply bhavana November 6, 2017 at 3:40 pm

    Wow! It is amazing to hear you talk so bravely.. Keep up the spirit!

  • Reply Destiny January 18, 2018 at 3:27 pm

    I appreciate you sharing your journey. My mother has lupus and watching her push through is SO motivating, just like you sharing your experiences. It definitely makes me thankful for the things we often overlook having that could be snatched away at any time. ❤️

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