Archives for the month of: January, 2012

As cardiologists investigated my heart attack symptoms over the course of several days in hospital, the long shot diagnosis – the “fourth possibility” – was extremely rare. In fact, #4 was so rare it didn’t even have a name at first. It was just this “rare complication” that almost never happens to women after childbirth. We were told not to worry. The cardiac catheterization scheduled for two days later would sort it all out.

Once the cath revealed #4 truly was the cause of my heart attack, the cardiologist told my husband the diagnosis: spontaneous coronary artery dissection (SCAD). Double bypass surgery and the associated shock wiped me out physically and mentally, so I didn’t realize #4 had a name until a few days later.

But what I remember clearly was the term “rare.” And I also remember feeling unhappy about it. I did not want to be rare. I was not an exotic animal, a bird nearing extinction, or an undercooked steak. Why in the world would a type of heart attack be rare? If people have heart attacks left and right in the U.S., why should theirs have an explanation and not mine? How could a “rare” heart attack that had never been researched possibly exist in the year 2003!?!

Being classified as rare did nothing to ease my mind. It just turned things up a notch.

Oddly, in Merriam-Webster’s online, the first definition of rare is “marked by wide separation of component particles,” as in rare air. The second definition is “marked by unusual quality, merit, or appeal.” Not until the third entry do we see SCAD’s “RARE disease” rare: “seldom occurring or found,” more simply, uncommon.

Well, one man’s uncommon is another man’s under-diagnosed or misdiagnosed disease. If a med student learns that SCAD is rare and never occurs, the outcome is foretold: the possibility will never cross his or her mind that heart attack symptoms in a younger woman are caused by a dissected artery.

My hope is to reclassify SCAD as “M.U.D.D.” You guessed it … Mis- and Under- Diagnosed Disease.

For everyone who is labeled RARE, let’s find answers through awareness, compassion, and research. To better understand the true heroes coping with the unknown of their diseases, please blog-hop on through this link:

More on 1 Million for RARE, Global Genes Project

  • 30% of children with RARE disease will die by their 5th birthday.
  • An estimated 350 million people are affected by rare disease worldwide.
  • 1 in 10 Americans is affected by rare disease.
  • 75% of rare diseases affect children.
  • Almost 80% of rare disease is genetic in origin.
  • There are more than 7,000 rare diseases.
  • There are NO cures for any rare disease. Only 5% of the diseases have any type of treatment.
  • Over 50% of Rare Diseases have no foundations, advocacy group or community support.

Take Action

  • Help unite 1 Million for RARE on the Global Genes Project Facebook page so that we can increase awareness to the rare disease community.
  • Wear That You Care (wear jeans to call attention to genes that can cause rare disease) on World Rare Disease Day, February 29, 2012, and encourage others to do so too. Include your schools, sport teams, places of worship, friends, family and coworkers! Share your photos on Facebook. Tag Global Genes Project.
  • Donate a bracelet to the 7000 Bracelets of Hope campaign and bring hope to a child/family living with rare.
  • Are you living with rare? Sign up to receive one of the 7000 Bracelets via the Global Genes website and also join the R.A.R.E. network.

follow on twitter @GlobalGenes, #1Mil4RARE


How many times in life have you lamented, “This would be so much easier if you could read my mind!” Well, what if our doctors could read our minds? Or, what if technology allowed the effect of doctors knowing our thoughts? What a huge difference that would make in the exam room!

Indulge me a bit … imagine pre-appointment symptom reporting, in a relaxed setting, at your own pace – your own unhurried thoughts – direct from your uncluttered brain to your doctor’s laptop by video.

Doesn’t that sound like heaven? Communicating symptoms clearly, effectively, and comprehensively is a challenge on a day when everything in the universe is reasonably aligned. Now, just throw one wrench in the mix, and effective communication becomes an unattainable goal – particularly in the health care setting.

Why? Many of us have an across-the-board dread of doctor appointments. Each has his or her reason, but for starters, we’re sick! Or, we’re following up on a problem we truly don’t like to think about. One of mine main sources of dread, besides wearing nothing but a paper towel, is that it seems completely up to luck whether or not I truly communicate with my doctor. The deck is stacked against it.

See if this sounds familiar: you fight horrible traffic to the doctor’s office and are flustered on arrival. Or perhaps you are on time and all is well, but you grow frustrated waiting on the doctor who has been called to the hospital for an emergency. You eventually go into the exam room, recite your medications to the nurse and explain your symptoms. She may or may not transcribe the symptoms and concerns with 100% accuracy in the chart. But how would you know? Your chart is hanging in a file bin on the hallway side of the door. (I can’t count the number of times my hand has been smacked for peeking.)

After an additional waiting period, the doctor arrives and asks “so what brings you here?” or “so how are you?” Which means you describe your symptoms and concerns once more to him. Personally, knowing that I don’t have much time with the doctor, it can be nerve-racking to clearly explain myself or remember everything (I always bring a list, which helps a little). However, I’ve had doctors get frustrated with me because of my list! So now we’re both stressed out while I’m attempting to communicate details that may be vital to my health, but perhaps he’s interpreting as whining or hysteria.

So let’s take that whole mess out of the equation. Patients with video capability on their smart phones or computers could videotape a pre-appointment message of symptoms and concerns, which is then emailed (or uploaded to an account?) for review before the exam room encounter. Doctors and patients could work together to develop guidelines to keep the reporting on point and at a reasonable length. These video logs would be excellent documentation, also, of health status over time.

For those without computer capability, why not create a “video booth” in the office waiting room to provide the same function? After signing in with the receptionist, the patient goes to a private space where he calmly explains symptoms and concerns to the video camera before any of the actual stress of the visit begins. The video goes to the doctor’s laptop for review, and then the appointment can begin with each party ready to discuss solutions, not rehash symptoms. Hopefully, the video preview helps the doctor streamline patient assessment, while giving the patient confidence to participate in the process.

OK … step right up! Who will be first to tell me how implausible this idea is?! Yet, by exploring new technology and social media, there has to be a way to improve communication between patient and doctor.

Let’s create allies – not adversaries – in the exam room.

Don’t be fooled by Twitter’s blue bird of happiness logo. Hell hath no fury like a Tweeter scorned!

Actually, scorned is way too melodramatic. “Disagreed with” is more accurate. No, even that’s an overstatement. When it comes down to brass tacks, what I did was NOT agree with a tweet.

Who knew I could be so wrong in under 140 characters? You’d think that would require proper spelling, grammar, and punctuation. But no, seems all it takes sometimes is stating a contrary view to unleash a torrent of entitled bombast.

Others have explored this in a far more eloquent fashion, but let’s consider: I would not berate a total stranger on a bus with every piece of evidence on my hard drive or in Google’s reach to verbally vaporize his stated preference for Pepsi over Coke (blasphemy, I know, but for example’s sake).

So why does the long black veil of cyberspace give people the arrogance to deny a person his or her opinion?

Anonymity is powerful. And with power, to paraphrase Franklin D. Roosevelt, comes responsibility. So, tweet responsibly!