Tag: Show Your Stripes

The Scleroderma Chronicles: Rare Disease Day 2024

Rare Disease Day is tomorrow, but since I’m going in for a lung scan on the 29th, I thought I would post this now.

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!!!

So, what is up with all the colored stripes?

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.

MacKenzie and me from 2018.

To learn more about my rare conditions and others you can go to:

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!

The Scleroderma Chronicles: Rare Disease Day, 2022

Well, this is a hard topic to write about. Quite frankly, I have been getting my butt kicked lately by my (wait for it) rare diseases. Still, I am trying to respond to the calls for publicity about rare diseases along with other members of the scleroderma and pulmonary hypertension communities.

You know, I feel like I should represent.

People with rare diseases are referred to as “zebras” in the medical community.

So, what’s a rare disease? A rare disease is classified as one that impacts a small percentage of the total population. Here in the United States that means fewer than 200,000 people diagnosed with the condition/disease. Perversely, there are a lot of people with rare diseases as there are almost 7,000 different rare diseases!  Some of these diseases are common enough that you may be familiar with them: albinism, achondroplasia (a type of dwarfism), and autoimmune hepatitis are examples. Others are very rare. Most are genetic in origin, and half of them impact children. More than 90% of rare conditions have no drug treatment.

The type of scleroderma that I have, limited systemic sclerosis, is considered rare as there are about 100,000 people in the US with this diagnosis. The latest diagnosis added to my medical history is of pulmonary arterial hypertension, another rare disease, and one that is a consequence of my scleroderma. Well, I am really rare now! I have struggled to explain my scleroderma to people when they ask; how can I explain in just a few sentences something that is just frankly causing horrific damage to my body and generating an ever-growing list of diagnosed conditions. Here’s my best answer at the moment:

Scleroderma is a chronic, progressive, uncurable, and often fatal autoimmune disease that causes scaring and damage to blood vessels, skin, internal organs, and muscles/joints. It is controlled and treated through the use of immunosuppressants and drugs that address symptoms. It is a life-altering diagnosis. It is my life.

So, I have blogged about Rare Disease Day several times in the past. Here’s what I wrote a couple of years ago, and what I wrote in 2018. In the past I have written about my symptoms and the struggle of living with a rare disease. It is pretty isolating. It is hard to get diagnosed and treated. I have also written about the difficulties to get funding for research for rare diseases and conditions, and the lack of treatments and cures because the patient population is so small.

This year I thought I would share some of the things that doctors have said to me since my scleroderma diagnosis. I’ve tried to organize these into chronological order to better reflect my journey.

  • My internist: It’s good to have a diagnosis, even if it is a shame.
  • My rheumatologist when I asked him what my life would be like in 5 years: Let me run some more tests, and then we can talk.
  • My ophthalmologist: Do you have a will?
  • The physician at the regional acute diagnostic center: This is a diagnosis like cancer. Of course, some cancers can be cured.
  • A physician speaker at a scleroderma support group presentation: this drug [the immunosuppressant that I take] can really give you a chance, as long as you don’t contract an infection.
  • My old rheumatologist: All you do is complain. Maybe I should order a sleep apnea test or prescribe antidepressants.
  • My internist, as I begged for an anti-inflammatory drug: I’m sorry. There isn’t anything that I can give you that won’t hurt your kidneys.
  • My dermatologist, as she prescribed an anti-inflammatory topical gel: This is unacceptable, and I am putting a stop to it now.
  • My new rheumatologist as she orders more testing on my painful joints: Why has no one followed up on this?
  • My rheumatologist two days later: You need to get a steroid injection in your hip joint as soon as possible.
  • The hip specialist: There is nothing more that I can do for you because your scleroderma is attacking all of your tendons and ligaments. You need a hip replacement, but it will fail.
  • The physician at urgent care: I don’t think they understood how complicated your medical status is when you were referred here. You need to be hospitalized because we can’t do the testing that you need here.
  • My pulmonologist as he walked me back to the waiting room: I really admire your attitude.
  • My cardiologist as I was being sedated for a right heart cath: Don’t worry. I’ll take good care of you.
  • My cardiologist as he started me on medication for pulmonary arterial hypertension: This is challenging, and we will need to be comfortable with “out of the box” thinking.
  • My rheumatologist last week, referring to herself, the cardiologist and the pulmonologist: We are your team!
  • My rheumatologist, also last week: We need to add a gastroenterologist to the team.

You can see how rocky the start was. There is a lesson here, I think. To be rare, to be a zebra in a medical community that is designed to identify the most likely cause of symptoms in a herd of horses, is hard. It is really challenging to secure the care that you need when, no matter how hard doctors try, you do not respond to the usual treatments, and you never fit the usual profile. It is easy to be seen as a problem. It is hard to keep insisting that there is something wrong when all the test results say you are okay.

Even when you are blue-lipped and panting it can be hard to convince doctors that there is a problem.

And yet, it is possible to get there. Over time, with great determination and persistence, I have A TEAM of doctors who view themselves as active collaborators in my care. They message each other to discuss test results and possible drug interactions, and they loop me into their discussions. It is only now, newly diagnosed with a terminal condition, that I feel confident and hopeful about my care.

Today I went in for a blood draw and a little jaunt through the local bookstore. The sun was shining, I bought a Starbucks coffee, and it was a good day.

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My scleroderma-related diagnoses:

  • GI tract: difficulty swallowing, hiatal hernia, GERD, gastroparesis, chronic gastritis.
  • Kidney: stage 3 chronic kidney disease.
  • Lungs: pulmonary arterial hypertension, interstitial lung disease, asthma, partial lung collapse.
  • Heart and circulatory system: grade 2 diastolic dysfunction (a type of heart failure), Raynaud’s phenomenon, telangiectasia.
  • Muscle/Skeletal: fibromyalgia and severe joint damage.

This is scleroderma. I’m a zebra, and these are my stripes.

Happy Rare Disease Day, everyone!

The colors associated with my diseases are teal (scleroderma), purple (Sjogren’s), and periwinkle (PAH). It sounds like the start of a great sweater, huh. 🙂