Archives for category: R.A.R.E. disease

20171215_235435Several weeks ago, I crossed paths with Senator John McCain at Walter Reed National Military Medical Center (WRNMMC). I was star-struck, and missed an opportunity to share an important message on behalf of Americans like me who rely on medical researchers and specialists in order to live a life worth living.

At the time I saw Senator McCain, I was distracted – for good reason. Earlier, in search of parking, I came across a space designated with a sign I’d never seen before. The space was reserved for surviving family members, in other words, Gold Star families. It knocked the wind out of me to know the car leaving the space was a family whose son or daughter, dad or mom had died in the line of duty. I slammed on my brakes. I hadn’t known this reserved spot existed and was embarrassed to be attempting to park there.

I drove up a level or two and parked, then walked back to the sign. It read: “RESERVED for Surviving Family Members. Please respect this spot and their sacrifice. Honoring our families of the fallen. Commander, Navy Installations Command (CNIC). Fleet, Fighter, Family.”

Thinking about the surviving families, I felt powerless. I had a bottle of water so dug around in my purse for a tissue to clean the placard. It was a very small gesture to pay my respects at the moment. I took a photo to show my sons to help them understand the way Americans revere our Gold Star families, in contrast to the poor example the president has shown. The year 2017 has been a difficult one to be the mom of two sons; so much ugliness to help them make sense of and endless lies to combat.

As I walked through Building 10, I grew angry. How was it possible that in one short year, so many of our country’s beliefs, institutions, values and integrity had become tarnished, if not completely destroyed? Never could I have imagined the abuse the Gold Star families of Capt. Humayun Khan and Sgt. La David Johnson endured. Never.

Waiting for the elevator, I tried to focus on all I needed to discuss with my mother’s doctors. She had a grapefruit size hematoma impeding her bowel, kidney and bladder function. We all were at a loss for answers. Our family tends to have “rare” health issues, so each crisis can be a perplexing unknown.

The elevator chime rang. On reflex, I stepped back to make way for wounded warriors and other patients. This morning, there was only one. In a red transport chair, wearing the same WRNMMC pajamas as my mother, sat Senator John McCain. My surprise must have been obvious! His sharp military aide, manning the wheelchair, smiled. Senator McCain gestured as if to say “after you,” so I scurried on the elevator not registering this wasn’t the elevator I wanted. As the doors closed, I peered out and for some inexplicable reason, gave him a thumbs-up. He graciously grinned, or grimaced. I was mortified.

When we got to the basement I grasped my error, and, of course, on the way up the doors opened. Voila! Senator John McCain. We all laughed. Our fellow passenger was a cafeteria worker who was heading up to collect trays. Clearly familiar with one another, they shook hands and exchanged warm hellos. Then Senator McCain kindly accepted our encouraging words and thanks. He did look good, albeit tired. We both appreciated his “thumbs down” on the skinny repeal of the Affordable Care Act. We meant it about needing his help. Hang in there, the man said. One day at a time, I said.

In hindsight, Senator McCain, I wish I’d had the chance to share with you what we have in common. Growing up in a career Navy family. Living at the United States Naval Academy. Surviving close calls. Supporting our armed services and Gold Star families. Battling rare disease. Working to serve others. Fighting for our own health. Relying on research. Pushing ahead, even when surrender might seem easier. Maybe my story would stay with you as you continue your work to honor this great nation you’ve helped create and protect.

In my heart, I believe you’ll remember those of us who will suffer if the current climate of self-interest, fraud and abuse of our democracy continues. I saw how genuinely you greeted the gentleman in the elevator, who earns his living feeding the sick and cleaning up for them. His words, softly spoken, speak for us all: “We’re counting on you, sir.”

There is still another day, Senator McCain. And the wish I wish for you tonight is peace.


I speak for those who can’t speak tonight. I speak for those who’ve been brushed under the rug by slight-of-hand. I speak for the dead.

We’d all like to believe that if we control our risk factors, listen to our bodies, and call for help when in need there would be no heart disease. No heart attack. No stroke. No death.

Yet we all know the truth, which is women do the right thing every day and die anyway.

Whether from congenital defect, unmanageable risk factors, or un-researched biological boogeyman, women die from heart disease every minute of every hour of every day because we haven’t devoted the attention, research dollars, or sweat equity to keep them alive.

Don’t insult my intelligence by telling me that awareness of heart disease will keep me alive. I literally could teach a course on Spontaneous Coronary Artery Dissection (SCAD) to med students today and die of a second heart attack from SCAD tomorrow because the data hasn’t been funded to explain my disease or prevent my death from it.

Talk to me about answers. Show me cradle-to-grave assessment, risk management, and care. Act upon my crisis.

Women die every minute of every day because death from heart disease isn’t yet lucrative or sexy enough for our health care and research establishments to act.

I’m fighting hard until I Go Dead for Women.

Depending your age and where you live, this may make absolutely no sense at all. So bear with me. Do you remember the Habitrail? A collection of tubes formed to create a utopian rodent village for gerbils — or  was it hamsters? Point being, I can look to the Habitrail as a model to explain my theory that pre-appointment stress is a valid issue in the quest for more effective doctor-patient interaction.

I live in Northern Virginia in a pie-shaped area trapped by Interstate 395 to the north and Interstate 495 (the infamous “Beltway”) to the south, and a healthy chunk of urban sprawl creeping east to the Potomac River and west to shopping plazas as far as the eye can see. Our neighborhood is lovely, and the kids can walk to school. However, if you need to go anywhere by car, you should easily calculate 1/2 hour per every 5 miles of terrain … on a good day.

It isn’t hard to imagine how this might feel. Quite gerbil-in-a-tube, truthfully. Especially when you are trying to make it to a morning doctor’s appointment on time. Your car is capable of driving in excess of 110 miles per hour, but you are physically able to drive at speeds more in the range of 10 mph to 40 mph.

OK, so I can hear you saying, “Why schedule a morning appointment? That’s rush hour. Pick another time of day.” Good and valid point. However, in this area it also takes quite some time to get seen by specialists. For example, in February, I called to make an appointment for my son. The earliest available slot was June — so I took it, regardless of the time of day. Also, technically speaking, the only “good” times of day traffic wise are 10 – 11:30 a.m. and 1:30 to 3:00 p.m. Any other time of day is rush hour.

So, right off the top we have a predicament. To see a specialist, I have to take an appointment with a doctor who may not be any good, but has won my attention by his recognizable credentials and ability to see me in less than four months. (Note: I Google all contenders to oblivion before making my selection.) Add to this the fact that I am a rodent, in a tube, chasing another rodent’s tail — can’t you just feel the stress?!? Then factor in my “history.” As soon as this guy meets me he will form an opinion based on my “rare” diagnosis. The Scarlet R. That’s all it takes to be labeled a hypochondriac. No physical symptoms matter because perhaps I’m still just over-reacting to every little thing because of my rare experience.

But back to my point. Every form of e-communication and social media available could improve the success rate of this office visit experience. Start with the required pile of pre-appointment forms. Online — so much more appealing and effective. Every time I fill out a new patient form I’m thinking, “My handwriting is crap! What a waste of time!”

Most important is symptom reporting. If I’d had the chance to send my thoughts in advance by email or video post, this specialist may have had something more to say than, “You know, all my patients complain of fatigue.” Even more frustrating, I was my own worst enemy because during the interminable wait for him to appear, my will power was conquered by that fluffy pillow on the exam table. YES, I’m an idiot. I did. I rested … just for a minute. And, of course, he knocked/opened and caught me. There’s that Scarlet R again.

I appeal to those of you in the position to explore and improve … think about it! Email? Smart phone? Youtube? Please come up with a better way. We gerbils would greatly appreciate it.

In celebration of all those waging war on rare disease, a quote from the past: “Rare things happen to special people.” Hopefully, that sentiment will raise your spirits as it did mine.

Please take a moment to explore the following Inspire rare disease communities in recognition of World RARE Disease Day, February 29.

ALS Advocacy Support Community

Amyloidosis Support Community

CARES Foundation Support Community

Charcot-Marie-Tooth (CMT) Support Community

Ehlers-Danlos National Foundation Support Community

Encephalitis Global Support Community

Fibromuscular Dysplasia Society of America Support Community

LysoLife Community

Myelin Repair Foundation Multiple Sclerosis Community

National Adrenal Diseases Foundation Support Community

National Fabry Disease Association Support Community

National Organization for Rare Disorders (NORD) Support Community

Nephrotic Syndrome and FSGS Support Community

Neurofibromatosis, Inc. Support Community

Organic Acidemia Association Support Community

Pseudomyxoma Peritonei (PMP) Support Community

Scleroderma Foundation Support Community

Stop Sarcoidosis Support Community

Tuberous Sclerosis Alliance Support Community

United Leukodystrophy Foundation Support Community

VHL Family Alliance Support Community

Wilson Disease Association Support Community


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