Well, here it is again. Rare Disease Day. This is my 9th year posting about rare diseases: on August 28, 2014, I was diagnosed with a form of scleroderma called limited systemic sclerosis. This condition, autoimmune in nature, is progressive as multiple organs, blood vessels, and the skin of the patient (that would be me) stiffen and harden due to scarring (fibrosis). It is also considered rare, since fewer than 200,000 people in the US are currently diagnosed with it.
So, what’s up with the zebra? Well… in the medical community doctors and other health professionals are trained to focus on the most common cause for the symptoms that they are seeing in their patient. The saying goes: when you hear hoofbeats, think of horses, not zebras. Certainly, that makes a lot of sense in terms of patient care and cost control. It works most of the time.
Unless, of course, you are a zebra.
Life is challenging if you are a zebra in a herd of horses. Doctors screen for the most likely cause of reported symptoms, and then when those tests are negative, you usually get told that you are fine, and then you are pawned off with some pablum like… do these exercises… try to reduce stress…would you like anti-depressants?… Seriously, it is pretty crushing as you start to wonder if you are just an attention-seeking hypochondriac since for the most part you look great. In my case, I didn’t even appear to be aging…
This can go on for years. And years. Autoimmune conditions like mine tend to send patients with vague complaints (I hurt all over…) to the doctor’s office looking for help. Some of the symptoms can be so subtle that you just don’t think to mention them to the doctor because you already feel pretty defensive about complaining after a few borderline disparaging interactions in the past. Why mention that you have trouble swallowing sometimes? Or that your arm is starting to look like Flipper the dolphin in appearance and texture? Some new red freckles have shown up on your face, but why mention them when you really want to get to the bottom of why you hurt all over and what is up with this fatigue????? Sure, there were those carpal tunnel surgeries 10 years ago, and the hospitalization for gastritis last year, but why would you mention them… When I was finally diagnosed, I discovered that I was absolutely classic and presented with all five of the CREST features of limited systemic sclerosis. Oh, one more thing: lack of wrinkles is a red flag for scleroderma…
You can see two of the CREST characteristics here. I’ve lost circulation in my ring finger as a result of Raynaud’s, and the thick (sausage-like) fingers that are trying to contract are examples of sclerodactyly. The other distinguishing symptoms are trouble swallowing, lumps of calcium deposits on some of my bones, and those pesky red freckles that are now appearing everywhere. It was official: I was a zebra. There are a lot of us.
Rare diseases are also known as orphan diseases. They are poorly supported and most of the time there is no treatment. After failing a chemotherapy drug, I was moved to an off-label treatment using an immunosuppressant drug developed for kidney transplant patients. It was hard to get the drug as it was declined by my insurance, then the appeal failed, my doctor filed another appeal, and I went to see the pharmacist with a pathology report showing extreme gastritis. It was a fight, but I got the drug. This drug, Myfortic (mycophenolic acid), has proven to be so effective in slowing disease progression that it is now approved for systemic sclerosis and is a drug of choice along with its close relative CellCept. It has been doing a pretty good job at slowing things down; at the time of my diagnosis the 10-year survival rate was about 50%. Now that there are some better treatment options the survival numbers have improved: 10-year survival is up to 70%.
Two years ago, I developed two of the more serious complications of systemic sclerosis (SSc): pulmonary hypertension and interstitial lung disease: two more rare diseases. Not good news at all; my pulmonologist told me it would be okay to cry as he showed me my lung scans and gave me the bad news. Remember that little word “progressive” that I used to describe SSc? This is disease progression; the inflammation and formation of scar tissue (fibrosis) had hit my lungs and heart, and my have doctors responded with big time drugs. Yes. Big time and pretty expensive drugs. Over the last few years, literally in the time since I was first diagnosed, drugs have appeared that can greatly improve treatment and life expectancy in patients like me, and there are more drugs in the pipeline.
The first drug that can be used to directly treat SSc just moved from orphan drug status to the fast track. This is serious, serious good news. I looked into entering a clinical trial for this drug, but my doctors thought that I wasn’t a good candidate because I have too many complications right now. Seriously, I have been slotted into a diagnosis called SSc-ILD with PH which means that I am a SSc patient with interstitial lung disease and pulmonary hypertension. Good grief, I’m now a walking bundle of acronyms. That’s okay. I can hang on, help is on the way!! FT011, I am waiting for you!!!
Serious medical conditions usually have an awareness ribbon color. It is a little cheesy, but if you are dealing with scary stuff, why not have some fun? Be a zebra, color your stripes in your awareness colors, and get yourself some fun t-shirts while you are at it. Eat Zebra Food (that would be black and white striped caramel popcorn to you non-zebras), get colored medical bracelets, and collect the stuffed animals. Zebras, of course!! My zebra has teal stripes (scleroderma), periwinkle stripes (PH) and purple for the ILD. Lung disease in general is green and blue. I also get purple for my Sjogren’s and fibromyalgia, and don’t forget the red for my heart failure. I’m a rainbow zebra!! Yay!
Okay, time to get serious. What is Rare Disease Day about? Raising awareness in the public about the challenges of living with a rare disease. There are a lot of people who have rare diseases, so by sharing our faces and voices the hope is that it will help make us more visible. We hope that a more educated public will aid in the diagnosis of others with rare conditions. (See above; diagnosis can take years. It would be wonderful if that could be sped up a little…) We hope it will help with funding for drugs, treatments, and maybe even cures. We hope that for those with invisible conditions, they will become more visible and supported. We hope.
To learn more about my rare conditions and others you can go to:
- National Organization for Rare Disorders
- National Scleroderma Foundation
- Pulmonary Fibrosis Foundation
- Pulmonary Hypertension Association
- American Heart Association
- Sjogren’s Foundation
- National Fibromyalgia Association
To everyone who battles on against scleroderma or any other serious medical condition, rare or not, I see you. Hugs! Shine on, my friends, shine on!
Yarn, Books & Roses 
I admire your resilience. Sadly, how things are dealt with is more symptomatic, which I hope will change soon. Take care 🌅
That is the hope and promise of the new drugs coming online. 🙂
Indeed! The more knowledge we gain, the better our chances will be 😊
Crossing my fingers re your lung scan tomorrow. 🤞
Me too. I feel pretty good about it because my oxygen levels are better.
Did you mention that you’re a blue-lipped zebra, Marilyn ? – a BLZ ?
I never tire of being made aware of just how much work you put in to keeping yourself abreast of your multitude of conditions – well, as abreast as is possible, anyway. If everyone were as knowledgeable as you regarding their ailments – real one, I mean – there’d be a lot less claptrap from medicos and a lot more honesty from big pharma.
But wait ! – what am I saying ?! There is never going to be honesty from big pharma.
We all hope that YOU keep shining, m’dear ! – and we’ll read about the scan when you feel up to posting. Hang in there, kiddo !!!!
I did not mention the BLZ even though the zebra is more blue than before. It is strange because my O2 numbers have been better. I just continue to ride the wave and we’ll see what the next round of lung testing shows.
I have really tried to stay abreast of new developments with the drugs and treatment options (there is a new one that involves altering T cells to destroy some of my antibody producing B cells that involves chemo and who knows what else…) because I realized that I need to have evidence based discussions with my doctors and some understanding of what is happening as I make decisions about drugs that I take. I mean, these drugs have really scary side effects that are not for the faint of heart. The lung drug that I halted increased my risk of a heart attack by 10% for instance. When I hear people moan about the risks associated with vaccines I want to b*tch slap them over the internet. Seriously. Everything is risk analysis. Get over it!! Anyway, I need information so I’m not just a passive (victim) participant in my own health care.
I wonder what big pharma will charge for that new drug that is not in fast track development…
Something eye-watering, I would think.
Up to your national drug authority to be helpful about that. Are they ever ?
No. They are blocked by congress which is pretty much bought by big pharma. It is a disgrace!
That’d be right. Same Downunder.
Marilyn, I’ve been reading your site for awhile but have not commented before due mostly to my own serious health condition. I’ve always hoped that you will be doing better each time I see you post. I too have a rare disease. The onset was 1992 and it took two years to get to the right doc for the diagnosis, Chronic Intestinal Pseudo-Obstruction. I know all too well the struggle to find docs who will take it seriously. In 2021 I had a set-back that has weakened and limited me even more. We’re still trying to work through remedies and things that may help; it’s a long quest, and a battle. I wish you success in finding ways to get better, and all happiness and good things to you, your kitties, and your family.
Hugs. I absolutely, absolutely understand. Do you get the dismissive “I’ve never heard of that” statement from people when you mention your condition? Like, if they never heard of it, it can’t really be anything serious… Hugs. Most of the time I’m just trying to do the best I can with what I have because there is no reversing the damage that has been done. I’m sorry to hear of your set-back; so crushing, huh. Hugs to you and your kitties and everyone who loves you.
At first local docs had no clue; finally traveled to see Dr. Thomas Abell, one of the foremost US experts in that field. Now it’s more known but locals don’t want to prescribe for it, and/or they just disregard it. We’re way past the ability to travel. A few local PCP’s will work with us a bit … But things happens slowly. Many hugs to you also Marilynn!
I’m so sorry. I’m lucky to live in the Denver area with its teaching hospitals and research centers. I know from what other patients say in my support forums that they also really struggle to find someone who is knowledgeable about and willing to treat them. Another part of the rare disease burden… I bet you have opened the fridge (like me) and wondered… what can I eat that won’t make me sick? I’m pretty sure that none of my doctors can relate to that.
I’m glad you have good medical resources where you live! There are some good ones not far from us but this is so rare … Oh yes on the food thing, long stories there and not only doctors but many persons can’t relate, chowing down with abandon is such a basic thing … Sending purrs for you to do well!
I just love “chowing down with abandon”!! They just take it for granted, and I miss it do much. Eating out is now a nightmare as I try to dissect the menu to find something that is safe for me to eat…
Thank you for sharing your knowledge and experiences. I’m working with a client currently that has Sjogren’s and impaired vision. It’s a rough go.
I’m glad to hear that medications are on the horizon. I’m sorry you’ve been through so much. Thank you for continued to write and educate us.
Sjogren’s is one of those really insidious conditions that is so much destructive then people first realize. Usually, it is presented as just dry eyes and mouth, but it can be extremely debilitating and lead to life-threatening complications like the ILD I’m now dealing with. I’m sorry that your client is struggling with it, especially since her vision is affected. (Ironically, the drug that helped my Sjogren’s symptoms the most also can cause heart and eye damage. This drug, hydroxychloroquine, is the one that drew a lot of attention early in the Covid pandemic.) How hard it is, I think that there isn’t any treatment that really helps with Sjogren’s and I’m doing as well as I am because of the immunosuppressants I get for the SSc; I don’t think doctors will prescribe them to patients with just Sjogren’s.
It all sounds incredibly complex. I wonder if my client’s vision loss is a direct result of the medication you mention. The tradeoffs can be brutal. I’m glad you’ve finally found various things that work, though I know that changes and will continue to change with time. Thank you for the additional info.
You know, I had several incidents where parts of my retina detached releasing debris into my eye and really impacted my vision. That has stopped now that I’m on a higher dose of the immunosuppressant. The most common drug for Sjogren’s also causes blindness so I was screened every year to monitor. I know from my online forums that few Sjogren’s patients get immunosuppressant therapy (risk vs. benefit I guess) and they are pretty miserable with their symptoms.
The idea of debris in your eye and lost vision sounds scary. I’m glad it has stopped with the higher dose of medication. These drugs! The idea that something meant to treat a condition could cause blindness seems crazy. How did that make it to market?
It was kind of scary, but most of the debris was reabsorbed and gradually went away. It probably was due to my scleroderma, and stopped when the dose of my immunosuppressant crushed the Sjogren’s into better control. That drug that I mentioned, hydroxychloroquine, is the one that was touted by the Trump administration as a Covid cure. There was some evidence that it might help, but when they looked at more data it didn’t pan out. Anyway, that drug is a derivative of anti-malaria drug quinine and has been around a long time. The eye issue is well known and that’s why you’re required to get regular eye exams to screen for toxicity issues. It is pretty rare, but it is good that they screen for it.
Ah yes, the infamous hydroxychloroquine from the man-child filled with nonsense. I remember it well. Do you have any seasonal improvements in your health issues, i.e., does the heat aggravate things? My sister’s MS is far worse when she is overheated, yet there have been times when she’s been unable to keep warm.
I hope Colorado spring shows up soon so you can enjoy all that spring entails. It’s cold and windy here today, at least by Bay Area standards. Two weeks ago, it was in the seventies, and I was wearing sandals!
The temperature is always a problem, but for different reasons. Hot weather is hard to get enough oxygen from. Cold weather is a problem because I lose circulation due to Raynaud’s and it is hard to breath. A sense of humor is essential at all times. I have heard that heat is a big problem with MS, and regulating body temperature can really be disruptive. I have had some problems with it in the past, but I seem to be doing better now that my dose of immunosuppressant has been increased.
I snowed several inches yesterday, and today it is much warmer and sunny. Hopefully by tomorrow I will be able to drink my morning latte outside with the cats. Spring is always an adventure!
Spring is an adventure, especially in Colorado. The immunosuppressant sounds like a miraculous drug. I’m pleased to hear that it helps you in many ways.
I came back to say I hope my favorite Rainbow Zebra’s scan today went well and you got the news you hoped for. Been thinking about you all day.
The scan did go well; now I have to wait and wait and wait for the results. Sigh. They are very slow with reading these CT scans. I also got bloodwork done to see if the anemia is improving.
Fingers crossed!
Thank you for thinking of me! The scan is a little high stakes as I halted the antifibrotic drug 6 months ago and now we’ll find out if that was a good idea.
Thank you so much for sharing this – creating awareness is always a good thing. And YAYYY for the new drug on the way!
The drug is a big deal and will have a big impact if it works on fibrotic disease in multiple organs. There is a lot of that, more than I realized at first. Liver cirrhosis, for example.
Don’t want to complain about my own undiagnosed chronic illnesses but do want to say that your self-advocacy is so inspiring. I get tired of the constant lack of help from medical staff even though I understand they are out of current options or ideas. You remind me to keep going and hope for medical advancements. Hugs!
x The Captain
Oh, no. So sorry that you are dealing with chronic illness too and I completely understand how exhausting and isolating and frustrating it can be. I found that things got much better when I began to interface regularly with my primary doctor, an internist. Self-advocacy is hard to do as you feel dependent on the medical specialists (well, I did) and it is hard to move things to data and evidence discussions with them, but I finally got there. As I said in the post, we hope. Hugs to you too!!