Skip to main content

My diagnosis story, Part II:

After a very long summer I traveled to the National Institutes of Health (NIH) in Bethesda, Md. to undergo the most extensive physical exam you can ever imagine. As I left, I believed I had Hermansky-Pudlak Syndrome (HPS), but was unsure what else I might learn from the trip. The idea of spending a week all alone in the hospital waiting to discover my fate was, well, scary and surreal at the same time.

After nearly two months at Wesley Medical Center in Wichita in 1993, (what I referred to as staying at “the Wesley”) I had made a point of having as little to do with hospitals as possible. I’m a medical chicken at heart, scared to death of needles or pretty much anything with the potential to hurt, so the idea that I was volunteering for a week of scrutiny signified how concerned I really was about my prognosis.

I needed to know where I stood.

I remember thinking on the plane on the way to Washington that what I learned during the week would likely change the rest of my life – and it did.

For nearly five years I had been dating a fellow journalist who lived in Hong Kong. It was pretty clear that if our relationship was to have a future, I’d have to relocate – an idea I was excited about. But, was it really a good idea given the health developments of the summer?

I arrived in Washington and discovered my typical habit of shrugging off all help from the airlines probably wasn’t the best call. There’s a shuttle that runs from all the Washington area airports to the NIH – but it’s pretty inconspicuous. I walked up and down the ground transportation area of Regan National Airport for 30 minutes trying to find it. I called the NIH on my mobile phone hoping for better directions, but no luck. I tried asking the policeman charged with making sure no one parked – no luck. Finally I spotted a family, loaded down with luggage, that had a little boy who was bald. He looked like he was in the midst of cancer treatments of some kind. I took a chance. “Are you all going to the NIH?” I asked. Sure enough, they were. They were NIH pros having been every six weeks for two years for their son.

This sounds terrible, I know, but on subsequent trips I’ve always found the NIH shuttle by looking for sick people all gathered together with lots of luggage. Young people who are bald, oxygen tanks, and wheel chairs tend to be the dead giveaways.

I finally arrived rather late at night, but Dr. Gahl’s fellow had stuck around way after her shift to make sure I was settled okay, and to go ahead and start taking my medical history. It was a history I must have recounted about a zillion times during the trip.

The next day I was joined by a hospital roommate, a very petite African-American woman who was participating in a clinical trial for Cushing’s disease. She was a Jehovah’s Witness and had strong opinions (which she was eager to share) about why receiving blood transfusions was, in her eyes, a sin. Way to go NIH! Stick the chick with a bleeding disorder in the same room with someone intent on evangelizing her anti-blood transfusion point of view. Oh yeah!

On the up side, it made me pretty happy to escape the room for my appointments.

For a week NIH collected every bodily fluid possible – urine, stool and blood – and then more blood, and then they’d come back for another helping of blood. Did I mention blood? They did an EKG, high-res CT scan, pulmonary function tests, bone density scans, lots of X-rays, a skin biopsy and the most extensive eye exam I’d ever had. They took pictures of my eye balls and attached electrodes to my head to monitor my brain’s responses to bright flashing lights. I met with doctors, lots and lots of doctors, and answered questions upon questions about every medical thing I could possibly remember. There were pulmonologists,
gastroenterologitsts, hematologists, dermatologists, geneticists, othmologists, cardiac specialists, gynecologists and even an oncologist after they saw a small mass on my CT scan – just to be safe.

But, probably the worst test was with the photo lady. Those of us with HPS who are seen at NIH agree to take part in what’s called the natural history study. We agree to come back to NIH every two years, or more, to have a complete work up so that the doctors can learn more about the natural progression of HPS. The phenotype, or the way people with HPS look, varies widely from those us that are very blonde and light skinned, to those with even black hair and tan skin. So, part of the study requires that we be photographed to record our “phenotype appearance.”

I don’t even like going to the pool in a bathing suit. Yet, somewhere there are pictures of me in my bra and panties, in all my flabby wonder, standing in front of a wall that looks like the backdrop for a police mug shot. I remember the photographer, luckily a woman, chatting away with me as she snapped her camera – she didn’t even have to touch me, but to me, it was the worst “test” ever.

You can poke me, prod me, take blood gases, probe my intestines and suck fluid out of my lungs – just don’t take pictures of me in my underwear!

(part III coming soon)

Comments

Anonymous said…
Thank you, thank you for sharing your diagnosis story. People (including my doctors) keep asking what tests I'll be having, and the only answer I have is "A lot." So, I can share with them the list you wrote. I've already had several of those tests (PFTs, etc), but I have a funny feeling I'll be having them again. And, I'll have to be sure I bring my nicest undergarments for the photos. Sheesh! They definitely didn't tell me about that "test"!!
Whitey said…
lol, Good times at the NIH. I would say so myself that the picture taking is the worst test. *shiver. It's just so weird. sry I haven't checked out your site in awhile.

Popular posts from this blog

Ratner's Cheesecake

Here's another recipe from Toby! Thanks Toby......and I'll get the others posted soon! Ratner's Cheesecake and plain cookies Ratner's was a Jewish dairy restaurant in the lower East Side of Manhattan. This recipe, from my disintegrating, no longer in print Ratner's cookbook, is the closest I've ever gotten to reproducing the rich, heavy cheesecake my mother made when I was a kid. It's worth the time it takes to prepare and every last calorie. Dough Can be prepared in advance. Makes enough for two cakes. Can be frozen or used to make cookies – see recipe below. 1 cup sugar 1 teaspoon vanilla extract 1 cup shortening 1 teaspoon lemon extract 1 cup butter 2 eggs 3 cups sifted cake flour ½ teaspoon salt 2 cups all purpose flour 1 teaspoon baking powder 1. In a bowl, combine all ingredients with hands. Refrigerate 3 -4 hours, or preferably overnight. Filling (for

The next generation with Hermansky-Pudlak Syndrome

I'm so behind on posting about the trip to Puerto Rico. Since the episode of Mystery Diagnosis on Hermansky-Pudlak Syndrome ran right after we got home, it's been a little busy. These, however, are my favorite pictures from Puerto Rico. I know, not pretty senery etc - but these little guys and gals inspire me. They are the next generation of folks with HPS, and if we keep up the hard work, they will live better lives because of it. They motivate me.

Some good news about Pirfenidone

Below is a press release from Intermune, the company that makes Pirfenidone. They have essentially reviewed the various clinical trials going on, and decided that Pirfenidone is safe and well tolerated. That would pretty much go along with what we've observed in the HPS community as well. We have a few folks that have been on the drug since the late 90s and continue to do well. Of course, as a journalist, I do have to say consider the source - but at the same time, as someone in a Pirfenidone trial, it's good to know. Results of Comprehensive Safety Analysis of pirfenidone In IPF Patients Presented At European Respiratory Meeting - Analysis shows safety and tolerability of pirfenidone across four clinical trials - VIENNA, Sept. 14 /PRNewswire-FirstCall/ -- InterMune, Inc. (Nasdaq: ITMN ) today announced that the results of a comprehensive review of safety data from four clinical studies were presented at the 2009 European Respiratory Society Annual Congress in Vienna, Austria