Rare Disease Day

Well, today is Rare Disease Day.  I actually hate math - but I love statistics. So here are some numbers, just for fun. And how I feel about them.

According to the Rare Disease Day website, a rare disease in the USA is one that effects less than 200,000 people in the population at any given time. It's unclear how many people in the USA are effected by Pulmonary Hypertension, and it is believed to be vastly under-diagnosed... perhaps so much so that it isn't as rare as it now seems? Whatever the case, my particular form is somewhere in the 1 to 2 in a million.

The website further goes on to say, "The lack of scientific knowledge and quality information on the disease often results in a delay in diagnosis. Also the need for appropriate quality health care engenders inequalities and difficulties in access to treatment and care. This often results in heavy social and financial burdens on patients."

I'd say so! It can take someone with Pulmonary Hypertension anywhere from several months to several years to get a diagnosis. By that time, the disease may be seriously advanced. Why? Well, PH symptoms like breathlessness and leg swelling mimic so many other conditions. Too many patients are told they have asthma or need to loose some weight. In fact, it wouldn't surprise me if most patients were told one of those two things at first.

I obviously also spend a whole lot of time with doctors and in hospitals. If I charged someone for every time I heard either, "You're too young to be here!" or "Oh...PH... so, what, do you like take an inhaler or steroids or something for that?", or if I collected a fee for every time someone doing a medical procedure wanted to hang a bag of fluids (and risk putting me in immediate heart faliure)...well,  I could pay my medications outright.

The misunderstanding about the disease by the general medical community is frightening.  I hate to do it, but I go into every medical situation with guns drawn. I watch every move. Ask every question. Corner every medical professional who says they know all about PH, and then asks the questions about my treatments that let me know they have no clue, and give them an ear full (okay, that part is kind of fun). It's exhausting though.

Rino Aldrighett, President of the PH Association, often quotes some stats that knock my socks off. He says,  "Of the approximately 7,000 identified rare diseases in our nation, there are about 400 approved treatments for about 200 of those diseases. In 1996, the first treatment for PH was approved by the FDA, in 2001, the second and third.  Today we have nine…with more in clinical trials.  So, this small disease, with 20,000 – 30,000 diagnosed patients in the U.S. is exceeded in treatments by only two of the 7,000 rare diseases…and all of those treatments have come in the past decade and a half."

Nine treatments. More to come. This is fantastic. But my medications cost over $200,000 a year.  I am not a cheap date! And they don't cure - they just slow down the progress.


I'd personally say we don't know how long people with PH survive. The stats say 50% at five years. Those are old though, before several of the medications we now have on the market. I'd like to think it's a little longer. But for many, some I have been close to, it has not been longer.

Hanging on to all these numbers gives me a sense of control over this whole damn roller coaster ride. What numbers can't do is calm me when I look at my son and wonder if I'll see him graduate. Or make my heart stop pounding out of my chest if I get too cocky going up the stairs with an arm full of whatever. Or make me any happier about taking medications four times a day. Or stop the tears as we say goodbye to yet another who lost their battle too soon... always wondering, is that going to be me?

Numbers can't ever make me like wearing oxygen at night. Oh, I hate that stupid tube. It gets tangled in my hair. It leaves deep grooves in my face that take hours to fade the next morning. It chokes me if I roll over too many times. If it falls out during the night I spend the next day feeling like I've been hit by a truck. Oxygen deprivation can do that to you.

 In truth, it is the most outward sign of what I have to deal with, and I really hate that too. When they first delivered that big tank (wow, four years ago!), the guy asked me to try on the tubing. I told him flat out no. I know it surprised him, but I just didn't want to. Okay, I did anyway, but I was still saying no in my head. I still instinctively tear it off if I hear my son coming in. He's seen it enough times. But there's something about it I just don't want him to have to face the truth of. Nobody but my husband has really seen it on.

Until now. I took some self portraits recently, ones I didn't intend to share. I felt like if I could face the images maybe I could start accepting this part. Or something like that. I don't know exactly. I just know I was trying to process it some more. I know this stupid tube is my big hang-up. I know it's all in my head. And I know it's good for me to wear it.

I also feel like people look at me during the day and think I'm doing so well, the whole PH thing can't be that bad, right? Wrong. It's an invisible illness. I could wake up tomorrow and start a downhill slide very quickly. It happens all the time and I've watched it. So, here, to me, this is the reality of my PH.

I will fight every day. I will stay positive almost every day. I will defy every odd and do everything they told me wasn't possible with PH. I will not stop until PH is no longer a rare disease - it is a disease of the past. And I will not stop until I can get this stupid tube out of my nose.