Friday, February 28, 2014

Rare Disease Day 2014

It's Rare Disease Day. "A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time."

What does someone living with a rare disease look like?

I've officially been living with myasthenia gravis since 1998. But, I had my first symptom of MG in 1973. I was four. My family went to downtown Chicago to look at the Christmas window displays. We walked and walked. Then I sat down on the sidewalk. My parents picked me up and stood me up again. I sat back down. My legs wouldn't hold me up. My parents tried several times to help me stand, but I physically could not walk another step. My three-year-old brother had no problem keeping up. I had to be carried.

I was weaker than my siblings. They could swing across the bars at the playground. I could only make it halfway and then I would fall. Every year my elementary school had a fitness competition. Every year my siblings won and every year I lost. My siblings won patches and certificates. I felt shame because I tried my hardest and failed anyway.

Myasthenia gravis causes rapid muscle fatigue. Rest makes muscles work again. The works/stops working/works/stops working aspect of myasthenia gravis makes people who live with MG look lazy. No one recognized there was something physically wrong with my muscles. Instead, I heard...

You need to build up your stamina.
You need to try harder.
You need to practice.
You just need to...

Twenty-four years later, I found out I have MG. The puzzle pieces clicked into place. Mild MG goes undiagnosed because a simple rest makes muscles work again. So, a child who rides her bike, then reads a book for a while, and goes back to riding her bike, appears normal. My parents didn't know something was physically wrong. Neither did my pediatrician. MG is not on the medical radar screen. 

Myasthenia gravis affects 14 in 100,000 people. 

If 14 people in this stadium stood up would you notice? 

Getting diagnosed with diabetes was easy. I was in DKA, my blood sugar was almost 400, and my A1c was 13. It took one doctor two seconds to diagnose me with diabetes. Getting diagnosed with MG took 17 doctors and 18 months. Why did it take so many? Two reasons.

1. Doctors don't notice the 14 people waving in that stadium any easier than you do. MG is so rare, odds are a doctor will see one patient in their entire career.

2. MG symptoms fluctuate. That is the nature of the disease. The muscle weakness symptoms are often difficult for the patient to describe. Because the symptoms are vague and come and go, 16 doctors pulled out the, "It's all in your head," script. None of them took the time to look up my symptoms. It was easier to dismiss me than help me.

The, "It's all in your head," script needs to be retired. Rare diseases are out there and people living with them deserve a diagnosis and a treatment plan. On this Rare Diseases Day, if I could institute one rule for all doctors it would be this:

If a patient comes into your office and says she has some odd symptoms that make no sense, come and go, and are distressing, please consider autoimmune illnesses before you dismiss her as mentally ill. 

Rare diseases are real. I'm living proof.

Tuesday, February 25, 2014

Feeling Older

It's not my birthday, but I'm feeling older today. Maybe it's because I'm waiting for my first pair of bifocals. I ordered them on Saturday and now I'm waiting for the phone call telling me my glasses are ready. I'm looking forward to getting them. I can't see my insulin pump screen. Unless, I drop my insulin pump on the floor, then I can see it just fine.

I had one of those frightening, "Is that a six or an eight?" moments when I was trying to bolus. The difference between 6 units of insulin and eight is a high waiting to happen. Or an epic low. I can't see my pump and it's driving me crazy. It's also scaring me because I can't tell if I have 80 units left in my pump or 20 units right now. When did the print get so small on my screen?

My cats were neutered and spayed last week. The surgery went fine, and everything is going perfectly with their recoveries. However, in the office when it came time to write the check, I couldn't see what I was writing. I feel like I have drops in my eyes from the eye doctor and everything up close is fuzzy, only it doesn't go away.

I'm getting older. My nephew is getting married in August. Thinking about this is making me happy, and amazed. My hair is turning salt and pepper. My hands have wrinkles. It's weird to watch this happening. It's wonderful to watch this happening.

I was seven days shy of my 29th birthday when I found out I had thymoma cancer. Instead of scheduling a 29th birthday party, I was scheduling a sternotomy and resection. All I wanted for my 29th birthday was a 30th birthday. Now I'm old enough to need bifocals. I'm aging. I've lived long enough to show signs of aging. How wonderful is that?

Thursday, February 20, 2014

Dear Miss Manners

Dear Miss Manners,

You recently wrote about diabetes finger pricking in public and suggested we do this in the bathroom.

"GENTLE READER: Absent an emergency, medical applications (like bodily functions and grooming) are properly done out of sight — meaning in private or in a restroom — unless they can be done so surreptitiously as to be unrecognizable as such. 

communications,newspapers,objects,papers,periodicals,publicationsThe technology associated with diabetes is fast approaching this standard, although Miss Manners draws the line at drawing blood. Restrooms exist to provide a proper location for such necessary activities when away from home, and those who use them have no business monitoring the respectable, if sometimes unaesthetic, activities of others."

How about, no. No, I am not going into a germ filled public bathroom to check my blood sugar. I can check my blood sugar without anyone knowing I'm doing it. I don't cut a vein open and wave it around. It's done in a flash and no one knows but me.

The same goes for using my insulin pump. I can dose insulin and it looks like I'm using my phone. Yes, I do these things in public. I do them because I have to. People do all kinds of bodily functions in public: fart, burp, sneeze, cough... No one runs to the bathroom before they sneeze. Diabetes doesn't go away when we go in public. Sometimes a blood sugar test can mean the difference between walking out of a public place and leaving in an ambulance.

However, what upset me most about what you said is this: you don't have diabetes, and yet spoke as if you know best how to manage it in public.

There is a phrase in the disability rights movement that goes like this: "Nothing about us without us." That means make no assumptions, or decisions, without first discussing it with people who live with disabilities.

I live with diabetes. I'm open about it. So are many other people. There is a group called Diabetes Advocates you can contact with questions about diabetes issues. Learn about our issues. Become educated. Then you can speak about manners.

Marie Smith

Wednesday, February 12, 2014

On Health Insurance Denials

(Photo by Mike Durbin)

My friend Mike has been dealing with health insurance denials. I've been there, too. A few years ago, my wheelchair was denied as not medically necessary. I was overwhelmed with frustration. Why is it that the doctor who knows me and my needs can be overruled by an insurance company -- people who don't know my needs and have never actually met me? Why does this have to be so frustrating?

A few months ago I ran out of insulin before my prescription was due to be refilled and my insurance company said no. I had 28 units left in my pump and according to my insurance company that was supposed to last three days. Um, no. A few phone calls later, everything was straightened out, but worrying about it raised my blood sugar.

Insurance company hoop jumping frustrates me so much sometimes I want to show up in person at my insurance company and say...

Hi. According to your files, I am Client XJ83-56, but my name is really Marie. I'm a person. I'm not a a collection of diagnoses, or data points on a chart. I'm a human being with a family who loves her. I've noticed that some decisions regarding my health appear to be automated. A vial of insulin will last exactly 17.2 days. Insulin pump sets need to be changed every 3 days. Insulin test strips will last 30 days. These data points would work perfectly if I was a robot. I'm not a robot. I'm a human being.

I'm a human being who gets her insulin pump tubing wrapped around door knobs and yanks out a brand new set. I'm a human being who has had a cat chew through an insulin pump tube. I've dropped an insulin vial on the hard floor and watched it shatter. I've spilled an entire vial of test strips in a bowl of soup. I've done these things because I am a human being who does not live a perfect life.

My family pays for health insurance, which is not like car insurance at all. Car insurance is only valuable if something goes horribly wrong. Most of the time, nothing goes wrong, but I keep paying my premium anyway just in case. However, my automobile is a choice. If it gets in a wreck, I can choose to file a claim, or I can junk it and get a new car. Health insurance is different. My pancreas broke down. My nerve/muscle junctions broke down. I can't get a new body. Until cures are found, I have to do my best to live with dignity and meaning despite broken body parts. It is not easy.

Decisions you make about covering my healthcare can make the difference between living a life with dignity, or a life in agony. Now that you have seen my smile, and shaken my hand, will you still treat me like a file number? A broken automobile? Or will you treat me like a human being?


I am not a doctor. I do not have a medical degree. Nothing on this site qualifies as medical advice. These are lessons I'm learning at the University of Catastrophe. What I find to be correct answers in my classes may not be the right answers for you.

If you are enrolled with your own major at the University of Catastrophe, please consult your doctor, therapist, attorney, auto mechanic, veterinarian, plumber, dietician, arborist, acupuncturist, manicurist, mother, local dairy council, shoe shine boy, or other equally qualified professional, for advice and assistance.

If you email me your personal information will not be shared without your permission and your email address will not be sold. I hate spam. Even with eggs.

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