After a three-year absence, I returned to the National Institutes of Health Clinical Center for a check-up as part of the natural history study on Hermansky-Pudlak Syndrome. The results were overall a mixed bag, but mostly good news.
I had much more anxiety about this trip than many in the past; perhaps as much as I had on my very first trip here. I’ve had a chronic cough for about a year now. No one has been able to determine the cause and so we all assumed it was probably due to the progression of my lung disease. There are times when I have a kind of spasm and cough for 20 to 30 minutes at a time. Afterwards, I just feel exhausted. I feel like I have to go lay down and take a nap because I feel so overwhelmingly tired. I get bruises on my stomach from the coughing.
My local doc prescribed a cough suppressant which has helped with the coughing spasms, but has not completely gotten rid of the cough. I still cough, but it’s a dry hack that lasts maybe a minute or two each time as opposed to the long bouts. This is less intrusive to my life, but has still had me increasingly worried about what it could mean for my disease process.
You’d think a disease that limits your breathing would be easy to spot as it progresses, but with chronic illness, sometimes you get used to being sick. It becomes your new normal. I know when my bowel disease was very bad, as bad as it was (and it was very severe), I honestly didn’t have a very good understanding of just how sick I was until the very end when I ended up in the hospital for two months and had my colon removed. When I went home and finally started to feel better, I had such a better appreciation for just how bad things really were.
So, I have a fear that one day I’m going to come for a check up, and that will be the check-up when drastic changes happen to my life. I won’t somehow see it coming, as if that would make it any better.
The good news is this was not that trip. I don’t have to go home and start urgently packing to move to Washington DC for a lung transplant. That reality is still probably a few years off. The bad news is there was some progression of my pulmonary fibrosis. We could see it on my CT scan. The radiology report says it is “minimal.” Yet, when I sat with Kevin to review the scan against those from the previous years, I couldn’t help but note that previously, there were just two or three small areas on each lung. Now, the right lung has spots of fibrosis from the top almost to the bottom scattered here and there. They may be “minimal” to the radiologist from a medical perspective, but for me – someone who has watched dozens of friends pass from HPS pulmonary fibrosis and who knows there is currently no treatment, or even clinical trial, I can enter – there’s nothing minimal about it. It’s progression.
My pulmonary function tests were mostly unchanged. My FVC was better than it has been in some time actually, but my DLCO (usually the first indicator of progressing pulmonary fibrosis in HPS) has fallen to 51 percent of the predicted score for a woman my age, height and weight. That’s not real great and does not bode well for where this progression is headed.
Because I had my PFTs first, I wasn’t expecting notable changes on the CT scan. DLCO is hard to measure and thus one low score can be a fluke. Yet, mine has been trending down for years now and given the changes we saw on the CT, I don’t think it was a fluke.
The odd thing is the folks at NIH don’t think the cough is related to the progression of the pulmonary fibrosis. It is typical to develop a cough as the disease progresses, but they say that it would be unusual to have such an entrenched cough at this stage.
That meant the hunt was on to find the cause.
My EKG and echocardiogram were normal. No pulmonary hypertension or other heart problems that could be causing the cough. That ruled out the super scary potential causes.
I have no signs of any chronic infections that might be causing it.
I was sent to see an ENT who scoped my throat and up my nose into my sinuses (great fun), but there is no indication that a post-nasal drip or GERD are causing the cough. Since I have year-round allergies and GERD, I thought those might be contenders.
It was suggested that my blood pressure medication (Losartan) might be causing the cough. Apparently, cough has been reported in some cases and I’ve been on this drug for years now. So, we are experimenting with medication changes there to see if this is indeed the culprit. If it is, I have a decision to make.
When they decided they needed to medicate my high blood pressure, we chose this drug because it was being investigated for some anti-fibrotic properties. It was one of the drugs in the multi-drug trial for end-stage pulmonary fibrosis (that trial has since ended). If you’ve got to pick a blood pressure medication, why not pick one that might help the fibrosis too?
As Kevin put it, the evidence at this point is “underwhelming” but that’s better than absolutely nothing. Right now I’ll take underwhelming, but potentially helpful.
Still, despite reassurances from the docs, I can’t help but think that constantly coughing is not helping my lungs either. They are not concerned because it doesn’t seem to be a lower-airway cough. I was very reassured when they said this, but now that I’ve had more time to think about it, I’m still concerned. I’d explain more about why, but as I don’t understand some of this myself. I hate to share more until I really know what I’m talking about. Let’s just say I have more questions I want to investigate on my own before deciding.
As so often happens with those of us who live with HPS, or any chronic health condition, sometimes you just have to pick your poison. There are no easy answers that will make everything better. Sometimes you have to decide which of the not-so-perfect options you’d rather live with.
I spent an entire day at the eye clinic having my eyes examined. Guess what! I have albinism, am legally blind and have a bit of a null point issue with slightly smaller than normal optic nerves. I do have some pigment in my eyes, but not much. This wasn’t exactly any sort of news. I’ve known all of that since I was a kid. The point of this exercise was pure research in hopes of helping the greater albinism community.
Apparently, the eye clinic has lots of new toys to take even better photos of the eye and the various structures inside the eye. This could be important for future clinical trials to try to improve the vision of people with albinism, especially small children where interventions might be most promising. It could be helpful for these trials to have more than one measureable endpoint, and these better images might contribute to that understanding.
The eye exams and photos were not painful, but uncomfortable. Let’s face it. Hours of camera flashes directly in your eyes wouldn’t be comfortable for anyone, but for someone with albinism and light sensitivity, they aren’t fun. My images seemed to really please the researchers, and they asked me if they could take some more with still more new machines they weren’t sure would work on someone with albinism. For me, the worst side effect was a headache and that’s nothing Tylenol couldn’t cure, so I agreed. That’s partly why the day dragged on so long.
I got to visit with the new ostomy nurse and she had some suggestions for my ongoing skin issues around my stoma. I get skin ulcers on the skin around my stoma that bleed. They don’t bleed much, but the least little bit of moisture underneath the ostomy appliance keeps it from sticking well to the skin. This results in highly embarrassing leaks! This was a huge problem when I was still working and we never could solve it.
There’s nothing like being in a meeting and realizing that poop may be running down your leg and you need to excuse yourself very quickly! Or, to be out with friends and suddenly have a leak that needs immediate attention. If you have to wait for a cab (which can sometimes take more than an hour) the problem is even worse! Sometimes the leaks happen very quickly and are very bad. Sometimes they happen more slowly and you can sort of patch things together long enough to get home and deal with them properly. Even if the leak is a slow one, the longer the already highly delicate skin is touching the output (which can be acidic), the more problems I have with the skin. If the sores bleed, sometimes I have to change pouches multiple times in a day, which means ripping off the old appliance that may still be sticking well in some areas. It’s like ripping off a band-aid over and over again until the skin tears. Now, you’ve got not only a bleeding ulcer, but bleeding damaged skin. The problem just snowballs.
Every time I travel, I’m in constant anxiety about having these problems in a place where they can’t be managed well, like on an airplane or in an airport. I travel anyway, but thank God no one is taking my blood pressure while I’m doing it. I’m a nervous wreck!
The next part of the trip involves a discussion of female health concerns. My mother will be mortified as whenever I blog about these issues I get scolded. My goal, however, is to document life with HPS and this is a huge part of living with HPS. So, consider yourself warned if such discussions bother you!
I had a nice visit at the dermatology clinic. Several years ago I started developing these strange sores on my breasts. The sores are not related to HPS, but since they bleed a lot, they’ve been more difficult to manage.
They would start out almost like a pimple. Then they would get very full of pussy fluid and burst open. Then, as they healed, the puss would turn to blood. No one could ever be sure exactly what was causing it, but eventually (it took a year of various antibiotics) they went away. The dermatologist would only suggest letting them have “more air” – but given their location, that was never an easy thing to do.
Now it has been several years since that problem. The places where these sores occurred are now scar tissue. Lately, on those spots I’ve been getting very dry skin patches. The skin flakes without me even being aware of it, and they start to bleed. A few weeks ago one bled so badly in the night that it actually bled through my pillow, the pillow stuffing, and to the other side. It scared me!
The dermatologists had no idea what to make of it. They have no idea what it is. It was suggested it might be Crohn’s on the skin, but it doesn’t really look like that either. They did, however, send me home with a whole new collection of wound care products to try to keep them from being so problematic to manage. So far, so good. Fingers crossed!
While I was in the dermatology clinic, they also took another skin biopsy for research. I think it’s the fifth one I’ve done so far. I don’t mind. My only request this time was that they find somewhere else to take it besides my forearm as I’ve got quite a few scars there from previous donations of tissue. Grin!
Lastly was my visit with Dr. Merideth, the OBGYN that specializes in HPS. I can’t say enough about her. I’m a big wimp in this department, and she’s so patient and kind with me.
Four years ago she put in an IUD to try to help with bleeding. I never realized how bad my periods were until I was at an HPS conference in Dr. Merideth’s session. She described what a normal period should be like, and what one is like when you might think about going to the emergency room. I realized that I probably should have been in the ER several times over my life.
The thing is women do not compare notes on such things. It isn’t polite. (Thus why I’m willing to share it here.) I thought it was normal to miss days of work because I was bleeding so badly and was so anemic. I had no idea other women didn’t do that.
The IUD was supposed to last about five years, but after about four years mine had pretty much stopped being effective to control bleeding.
On top of the fact that I’m a self-admitted wimp, I also have some anatomy challenges that can complicate putting in the IUD. When I had bowel disease there was some scaring from fistulas. My insides sort of re-arranged themselves when six feet of large bowel was removed. The trouble is because of my lung disease, asthma and sleep apnea, they wouldn’t sign off on conscious sedation. So, the very minor and routine procedure had to be done in the operating room as if it were a full-on surgery. All I can say is Thank God! You can probe my bowels, suck fluid out of my lungs – do whatever you want to do – I just don’t want to know about it! Grin! I doubt my health insurance or local docs would have gone for this plan, and for me, it really was so, so, so much better! I am so grateful Dr. Merideth could do it!