Multiple Hereditary Exostoses

#RareDisease

Sometimes, it’s exhausting being a social media advocate. I really can’t be the only disability and RareDisease advocate who’s constantly being harassed by members of their own community, right?

I have been disabled my entire life as I was born with a rare genetic disorder called MultipleHereditaryExostoses. MHE is a genetic defect where the heparan sulfate proteglycan biosynthesis is defective in every cell in our body. Besides bone tumors, MHE warriors can have systemic symptoms related to their condition and not know it because this is not researched into like it should be. The genetic defect can cause chronic migraines, autism, fatigue, abnormal scarring, cyclic vomiting, gastric issues, lung issues, kidney issues, and inflammation. (Learn more here! It is from the National Institute of Health www.ncbi.nlm.nih.gov/pmc/articles/PMC4007065)

I am a firm believer in the fact that patients must question those who are meant to help them if they are actively overlooking their need for help.

Recently I became the voice pushing for more research into the systemic issues related to MHE as science and personal experiences show it is a systemic condition and NOT a bone disorder. The existing research foundation didn’t like the conflicting data and demanded the information be taken down. I refused, thus half the community now thinks I am a bully and actively seeks to hide this factual and potentially life saving information. I really can’t imagine how scientists felt in the Dark Ages if this is how I am being treated for revealing new information in 2020.

Now, the “go to” insult for people to use against me is that I am just using MHE to become famous, thank you influencer culture for that stigma. Because of this, I really even feel uncomfortable lately posting selfies as I don’t want my message being overshadowed by my appearance. I was told by an MHE patient that I am a spoiled girl who sees MHE as an opportunity to be famous and I should be ashamed of myself. I was told I am harming the MHE community. I was told I am Hitler.
I was literally compared to Hitler because I questioned an orthopedic surgeon on a genetic issue and refused to stay quiet. How sad is that?

People need to realize genetic disorders do not exhibit the same for every patient, and every patient is different. One patient experiencing something is enough to warrant research. I know I am not the only one who experiences this though, which makes it even more confusing to me.

This is my life. It is not an act. I don’t do what I do to become famous on social media. Do you not know how ableist you are every time you spread that rumor about me?

My advocacy work is literally my own journey with self acceptance. I have no reason to put myself on a public platform except to make sure my future disabled children don’t find themselves in the same hopeless situations I used to find myself in. I share my exact thoughts within my art to get it off my chest, and by sharing it with the world I help empower someone else into embracing their disability. I use the beauty to shine light on the pain. Just because I am an attractive woman who is a professional in media and marketing which gives me extensive knowledge in engagements you feel like you can discredit science and research that ultimately benefits you?

You don’t know me, but you’ll understand why I do what I do when you choose to look past the lies your toxic friends and “experts” tell you.
Truthfully, I don’t know how I haven’t died from medical ignorance and malpractice because of no one actually understanding MHE.
I just found out I have constant kidney infections, bowel blockages, and a hiatal hernia-I don’t know how I didn’t get sepsis as I have had these problems for YEARS. I have had violent cyclic vomiting for years! The compassionate nurses looked ashamed of their profession when they saw me on during my recent trip to the hospital.
All of my issues were overlooked because of my MHE. Imagine my shock when I learned they were all connected to my MHE and that’s why no doctor could find answers?
How can you find an answer in an area you don’t know to look because the one research foundation isn’t pointing in that direction??
I truly don’t care about how many surgeries someone’s son has had, or what his experience is if it means MINE and countless others gets overlooked. I don’t appreciate being told what I live daily isn’t how it is by someone who doesn’t live it. I don’t appreciate the way other MHE patients have reacted because of “scary science”. You will be the reason someone with MHE dies from an unknown complication and you are too ignorant to realize that.It’s not just about the tumors, it’s not just about what the researchers and doctors think, it’s about WHAT WE LIVE.

PATIENT ADVOCACY IS THE KEY.

If there are no patients sharing what they experience, research WOULDNT know where to look. The key lies in us, NOT the researchers. NOT the MHERF. NOT the surgeons. US. #RareDisease #MultipleHereditaryExostoses

It’s been a little over a week since I realized my mental health wasn’t in a great place.

I realized I go too hard when it comes to how i approach advocacy, and life in general. I don’t realize it in the moment, but I turn manic and all I focus on is the task at hand.

It is as if I am addicted to productivity.

It makes sense to me really. I have ALWAYS felt like my body held me back, so when there is something I can do, I go all in. For example, when I was creating The R.A.R.E. Community, all I focused on was R.A.R.E.; I barely ate, I barely slept, all I could talk about was what I was creating with R.A.R.E.. I even forgot myself along the way, and was bending over backwards going out of my way for people who were not genuine. I ignored all the red flags and alerts that I was heading towards a breakdown. The only thing that seems to snap me out of manic is if I feel betrayed, and then I have to cope with the PTSD that comes with that feeling as well.

I am so tired of this cycle, it never ends. But is it my fault it never ends?

Being honest…could be.

I have never been able to connect with other people, and I have never had a lasting friendship, all of mine have ended and left me with trust issues and trauma.

When it comes to speaking in front of a camera or a crowd, I feel alive. However, despite the countless motivational talks I have given over the years in front of hundreds, I still panic at the thought of a one on one conversation face to face with anyone. Coworker I’ve worked years with, some of my extended family even. I hope they don’t realize I say the same phrases every single time they talk to me…I just panic and can’t think of anything to say. It’s always been like that. I thought it would get better, but it hasn’t. Multiple Hereditary Exostoses is connected to Autism, so maybe it’s beyond “social anxiety disorder”. I don’t know, this wasn’t known back when I was a child, so it’s something no doctor has ever looked into.

All my life I wanted to ‘belong’, and I always yearned for the types of friendships you see on tv, but I just could never find anyone I connected with (until I met my husband, he is my person). I was the girl with tumors who was weird, gross, and the butt of many, many jokes.

As I got older, I gained a false sense of confidence from my job as a director. Suddenly a lot of the people who bullied me wanted to be my friend or date me, and looking back I didn’t realize they were not genuine. Even now I think I am more aware of the darkness that hides under a smile, but I still get tricked by a false sense of security and ‘girl power’.

When you keep putting yourself out there for people, when you keep doing the same things expecting better results, of course you will be stuck in a never ending cycle. I’m too exhausted from 26 years of it, I’m tired of trying to appease people I want to be friends with for the sake of having a friend. I’m tired of always being there for everyone, but not having anyone be there for me when I need it the most. I am tired of being put in awful situations that stress me out all because I wanted to make someone happy with me.

I know better….why don’t I do better then?

I thought I was unapologetically Marie before, but I still worried what people thought of me and if they had group chats about me behind my back. After getting burned for the last time, I realize those anxieties never mattered to begin with. Those anxieties were the things driving me crazy, not making me feel supported or empowered like friendships supposedly do.

I finally realize, if someone makes me feel that way, they shouldn’t be in my life to begin with. A friend cares about how you feel and finds a middle ground between their needs and their friends needs. If someone refuses to do that for me, they are no friend to me.

I am finally understanding the true meaning of being unapologetically yourself; it’s being comfortable with the fact others will never understand aspects of you, and being okay with that.

There are certain people who will ALWAYS understand me—my family. I am so lucky to have a husband who loves me beyond anything I have ever experienced, and parents who always cheer me on and support me. They love the person I am, and make sure I feel okay every day. They help me work on fixing my flaws-my anxiety, manic depression, and PTSD leads to anger, and instead of shoving it in my face they try to help me control it, and learn mindful techniques to release the pent up anger. They don’t constantly tell me how my flaws will ruin my work when I am asking for help, but they actually help me. You can’t find that trait in many people now a days.

My husband is the first man to ever take care of me, and he has since the day we met. He has always loved my personality, he understands my past, my triggers, my every thought and intention he just knows. He makes me pause and take a look at how I don’t take care of myself like I do others. Better yet, he wants me around. He loves when I go places with him, and he always adapts the activity to be something I can do. There are so many first time experiences I am experiencing with him, like my first mini hike on the parkway and my first beach trip without my parents. He takes pride in being my husband, protector, and care giver.

I tear up just thinking of how thankful I am for my life now that he is in it. We are starting our own family, something I never thought would be in my future. I can’t have biological children if I continue to run my body into the ground, and it starts with my mental health. If I am stressed or overwhelmed, the mental exertion triggers a PEM flare, and then my entire wellbeing goes downhill. I can’t imagine being pregnant with MHE, hEDS, POTS, IBS, ME/CFS AND be in a manic depressive state. Some things aren’t avoidable like my physical condition, but I can avoid the mental strain by making sure I stay positive and stress free.

These are the things that matter, not the people who will never truly know or understand me. You can change your entire world JUST by changing the way you see it. Why do I waste my time on finding friends when I should be finding my peace?

Right now, my peace lies in my family, my art, and sharing my story. Advocacy is very therapeutic for me, so I am learning the best way to be an advocate while still making my mental health my number one priority.

Being a patient advocate leader is a very important role, but you can not pour from an empty cup. Can you really help someone if you can‘t help yourself? Do you really have the right to give advice to people if you yourself refuse to take it? I don’t think so, which is why I choose to share my struggles like a badge of honor. If I have to stand alone in my own R.A.R.E. Community for the sake of my mental health, at least I am still standing, sharing my voice hoping to make a change for the chronically ill and disabled community in a way that doesn’t lose my soul along the way.

I might sound jaded, but don’t get me wrong-I know despite the people I have encountered who have hurt me, there are pure souls in this world who have the same values and mean what they say. You can never let your past pain cloud the future, but you also can’t ignore the past pain all together either. Knowing who to open yourself to and who to avoid is an art I have yet to master. But it is all a work in progress, and as long as you keep going, you can keep growing. Those who walk in the path of the light will see the light of others, and that’s how true connections are made.

Right after my breakdown, I had a psych evaluation, and I can’t help but smile—the kind woman told me I remind her so much of her daughter, and gave me her daughter’s name, description, where she hangs out, and told me to find her. She told me she is a gentle soul too who wears her heart on her sleeve, accepts everyone, and even runs a camp to teach girls how to play music instruments like drums and guitars. She made sure to repeat multiple times find her, and it just makes me feel good knowing that some people are genuine, even if it’s a total stranger you are doing an assessment with over the phone. It’s a small world-I remember her daughter from a story covering that camp in my show years ago. I may take her up in that idea once I find more comfort within myself first, so I can end the cycle.