Monday, 29 February 2016

#RareDiseaseDay - The Truth About Rare Diseases

My #RareDiseaseDay story is unique, strange and full of unanswered questions. But, so are other #RareDisease stories, they too revolved around unsolved #DX's (diagnosis) and worried family members.

The Truth is Ugly:

It's a sad reality, but the fact still remains - most #RareDisease sufferers are left feeling: alone, ashamed, darkened by their secrets, unwanted, unappreciated and mostly, they are left wondering if anyone out there will ever truly help them to dissect their unsolved mystery.

It's a known fact that there are over 7,000 rare diseases (source:, which adds up to around 350,000,000 people worldwide. That's about 4.60% of the world's population (Estimated higher between: 6%-8%). Not a high percentage when you look at just the numbers, but think about this for a second, that means that there's a high probability that you yourself are guaranteed to know, or have known someone who suffers on a daily basis. Only about 400 rare diseases have therapies and about 80% have a genetic components.

What does it all mean?

Most people who suffer from #RareDiseases will be: shoved around, pulled, pushed, pressured, poked and driven away from the health practitioners they encounter. I'm not making this up and I'm definitely not exaggerating one bit. In my lifetime of being pushed from one specialist to another, one truth remains; rarely do I even encounter someone willing to risk their neck and test the limits of the #healthsystem in order to truly help me to get answers.

Don't get me wrong, I've seen many doctors who gave a "crap", but rarely do I find any willing to go beyond their mandate, beyond their field of expertise.

True Story:

One time, I was sitting in a room waiting for the doctor to come see me, and to my amazement, I could hear the very same doctor complaining to the nurse stating and I quote "What the hell does Martin think I can do for him? We need to send him to someone else, I don't want to see him". I cannot make this up if I tried, nor have I changed a single word this doctor said.

The unfortunate truth is that the doctor had no idea that my ears were really sensitive and I could hear every word. So I calmly stepped out into the hallway, looked him directly in the eye and replied: "Shame on you (doctor's name), next time act like a professional and give me sound alternatives you prick". Needless to say, the doctor was shocked as I gathered my things and quietly left the hospital.

The Ambassador in "YOU":

Those who suffer silently need to learn how to yell from the top of buildings. Quietly agreeing with every prognosis, every DX, every medication can hurt a person's chances of a normal, productive and happy life.

Due to cuts in funding, practice overhead, overcrowding ER's and other factors, many health care providers working in the system are overworked, under-appreciated and under-paid (in some cases). This and other variables makes it harder and harder for rare disease sufferers worldwide to get the quality care they pray for.

It's imperative for #RareDisease sufferers to better understand their own health issues. Learning everything you can about your own health care is essential to building a strong case for yourself. Logging and detailing every personal moment in or around the health industry is vital. Tracking your history is key to getting the right answers at the right time. Without that knowledge, each time you tell your story, each time you're asked to repeat the basics, the professional hearing that information can only look at you with blinders on. It's a sad reality, but you can't blame the professional. They only know what they know.

Logging Your Health Care:

Here are some basics to document each time you see a specialist.

  • Time/Date
  • Doctor(s) Name(s)
  • Doctor(s) Profession
  • Who referred you?
  • The reason for your visit?
  • What questions did you ask?
  • What were those answers?
  • What DX did you receive?
  • What possible recommendations should you consider?
  • Did you get any tests done?
  • Did you give blood? For what results?
  • Did you do an X-ray? For what part of the body?
  • Did you get an ultrasound? What were the results?

And so on... As you can see, there's so much information you can obtain from each visit. For every logged visit, a history starts to develop, and small signs start to reveal themselves. Months, even years later - all the data you meticulously collected will start to benefit the next doctor you see, and the next, and the next. Doctors are no more than highly specialized detectives and they are very good at what they do.

Don't expect the same treatment from an ER doctor. If your rare disease flares up, or new signs emerge and you're forced to visit the ER to get checked out, don't expect a miracle from that visit. ER"s are designed to help your immediate needs, not necessarily long term commitments. Don't get discouraged from this. Take each visit as a learning experience, log everything.

How to Find a Cure to my Rare Diseases?

This is the Holy Grail to the health industry. Billions upon billions of dollars are spent on research each year trying to help cure known illnesses, while also finding the unknown at the same time. Not many illnesses in recent history have received the honor of having a cure, but it doesn't mean you should give up. New developments are being discovered every day, new advancements in medications, and because of the internet, patients globally are coming together sharing ideas on a grand scale. Doctors are increasingly facing the reality of seeing highly educated patients, some good and some bad.

If you want to help your cause, write down your story, do your own research. When you've done your research, find other sources to research some more. Get involved with local groups that relate to your #ChronicIllness. Talk to as many health practitioners as you can. Conventional medicines aren't the only source for help! Meditation, aromatherapy, yoga, time-tested traditions are starting to come back into mainstream wellness and it's about time. Don't disregard ANY tip that can help to enhance your wellbeing.

The moral is, become your own health ambassador, become the professional at "YOU". In the end, the more you learn, the more you research, and the more you participate, all the efforts you do will guide you to bring you one step closer to finding the answers you're looking for.


Martin R. Lemieux

@Martin_Lemieux - Twitter
@MartinLemieux - Mayo Clinic Connect Member

1 comment: