WE ARE RARE

It may sound odd to some, but happy Rare Disease Day.  Rare Disease Day is the last day of February, and helps to bring awareness to the public about rare diseases.  Both of us are “rare.”  Tremors has Satoyoshi Syndrome which is diagnosed in around 60 people worldwide, and Nemo has half a flipped heart along with Ehlers Danlos and a list of other diagnoses.  Because we are both so rare, it is hard to get a diagnosis.  Many times rare diseases can mask themselves as other disorders, making it hard to get the correct diagnosis.  Rare diseases also often do not have treatments, and there is very little scientific research being done on them.  I can say that we are both lucky to have our diagnoses.  While we do not choose to live our lives defined by the label, we both know that our diagnosis is a large part of our lives.  It is hard for it not to when it impacts everything that you do.  For example, Tremors is unable to drive and Nemo can sometimes dislocate opening the microwave.  When this takes up so much of your life, it is sometimes hard to move forward.  No one, and I mean no one knows what to do with you.  And I don’t mean only people without a medical degree of some sort.  No, doctors and specialists are often puzzled.  I mean, it’s fine to be unique and everything, but it is a little bit annoying when you have to explain every aspect of your diagnosis to everyone.  

Nemo:

Part of what makes me rare is not a single condition that I have, but it is the fact that I have so many different conditions. I have multiple conditions that are considered rare diseases, but I would be shocked to find somebody that has every condition that I have been graced with. Even on this blog, I have never written down all of my conditions, however, here it goes. I have tried to put the list in order of how old I was when I was diagnosed. I have …

1. Mixed Cerebral Palsy
2. Polysplenia Heterotaxy Syndrome
3. Hypoplastic Right Ventricle
4. Multiple Holes in My Heart
5. Dextrocardia
6. Leaky Valves
7. Scoliosis (to the point where I would have surgery if I had a good heart)
8. Gastritis
9. Migraines with Aura
10. Ehlers Danlos
11. POTS
12. Gastroparesis

Although more than one of my conditions are rare, the thing that is most rare about me is my heart, it is one of a kind. Only the left side of my heart works. This means that my right atrium, right ventricle, and tricuspid valve are nonfunctional. My heart is then flipped so that my left ventricle is where a person’s right ventricle usually is. Then my heart is moved over so that it is on the right side of my chest instead of the left side.

Hopefully this picture better shows the placement of my heart

I think the most important thing to remember about rare diseases is that they are rare. This means that doctors and other medical personnel are not used to meeting patients that have this. Similarly, it might mean that you are one of a kind, especially if you start racking up multiple diseases. When I was born we were told that I would not live, well guess what they were wrong. At six months when I had my first heart surgery we were told I would not live, well guess what, they were wrong. My mom was also told that I would never be able to eat by myself, talk, crawl, walk, play, or go to school, guess what, they were wrong about all of those.

At six years old and only 30 pounds I had my second heart surgery where the doctors were positive that I would not survive. Everybody was prepared for it because it was a complicated procedure. Not only did I survive, but I have not needed another heart procedure to this day. Nobody could have seen that coming.

The reason that I wanted to share all of the doubt that medical professionals had about me is to prove that their word is not the final say, you know yourself better than anybody else. A medical degree can not be a substitute for a lifetime of having to live everyday with a chronic condition. While it is true that some things are difficult for me, and I have a lot of medical appointments but I am able to live a normal life. Although everybody is different, I was born with my conditions so this way of life has become my standard so I might as well live my life with all it has to offer. To everybody else out there either struggling with or embracing a chronic illness just remember nobody knows you better than you.

Tremors:

Life with a rare disease is a not so fun roller coaster.  You have to deal with the fact that you have a rare disease that basically NO ONE has, plus all the fun symptoms of what you have.  It honestly impacts everything that you do.  I have lived with my diagnosis for around two years now.  I am EXTREMELY thankful that I am able to have a diagnosis.  When there are only an estimated 60 or so people like you it’s pretty lonely.  I wanted to be a normal high-school girl, but life decided that it would be too easy.  Instead I get to live out my life as a bald girl who has some pretty intense muscle spasms.  I get to have weekend vacations in the hospital and fun day trips to the various clinics.  Any time that I show a symptom in public whether it be my baldness, a spasm, or both, I am treated as if I am an animal in the zoo.  While going to class in a beanie I might as well wear a sign reading “Satoyoshi Syndrome Patient #_____ in her natural habitat.”  Doctors are always intrigued by my medical chart, and sit in the hallway on Wikipedia reading about Satoyoshi Syndrome.  First, these very doctors decided that I was making it all up.  That there was no way medically that I could have something wrong with me.  However, one doctor believed in me, and thought that something was truly wrong.  That is how life with a rare disease is I guess.  No one gets it until they are given proof.  “Normal” people never know how to respond first when they hear that I have a chronic illness.  Trust me, I have gotten just about every response.  It gets even worse when they hear how rare it is.  That’s when the filter is out the window and the questions come out.  People then believe that they can ask about any detail of your life, without consequence.  But in the end, life goes on.  You learn how to juggle the questions, and the symptoms.  You are a part of a club that no one really chooses to join, but are instead thrown into.  

Rare diseases never really get much attention.  They are are simply glossed over by most, and are thought to be not as important since they impact individuals much less than other diseases.  However, more than just the patient are impacted by these rare diseases.  Their families, friends and peers are all impacted in one way or another.  They are the ones who see the day to day life of those with a rare disease.  They are the ones who (try to) understand what happens, and roll with the punches.  None of these individuals truly wanted to be in this position -- especially not the one with the rare disease.  It is an uphill battle that needs to be fought, no matter how unfun that may be.  

To all of those out there with a rare disease,

WE BELIEVE IN YOU!

-Nemo, Tremors & Secret Agent Puppy