Rare Disease Day 2022: Fewer than 1 in 2,000

It’s Rare Disease Day again. A disease is rare when it affects fewer than 1 in 2,000 people. Lucky me, I’ve been affected by more than one. I’m taking stock of them this year, and maybe I can help some people identify similarities to their own symptoms and give them a starting point for talking to their doctors.

[Note for Speechify listeners: my voice is most similar to Salli from the default options.]

Papilledema is when increased pressure in the brain causes swelling of the optic disc. At my recent neuro-ophthalmologist visit, it showed that papilledema was indicated last year, but it seems to have resolved itself… so optic nerve drusen (congenital crystallizations that make the optic disc bulge but rarely result in vision loss) is what I’m left with. The opening CSF pressure I had from a spinal tap I had in 2018 was elevated and can explain where the extra pressure on my optic disc was coming from. But I’ll probably be doing 6-month follow-ups indefinitely to ensure I don’t develop eye problems (including a return of papilledema) that I don’t notice because my right eye’s visual field is already impaired, and I still have myopia with astigmatism. Optic nerve drusen, however, is not a rare disease or condition, as it occurs in about 1% of the population.

Small Fiber Neuropathy, also referred to as small fiber polyneuropathy or shortened to SFN, is not listed on the rare disease website, but an October 2021 paper lists a prevalence of 13.3 per 100,000, which is fewer than 1 in 2,000.

My SFN is currently considered idiopathic because none of my specialists have been able to identify an underlying cause. Diabetes is the most frequently identified underlying cause at 15%, but 70% of cases are idiopathic. Symptom profiles can vary widely, as SFN is both peripheral and autonomic neuropathy.

Nerve pain ranks pretty high in my personal symptom constellation. Allodynia, involuntary muscle movements, hypersensitivity to touch and temperature changes, IBS, and so much more.

Postural Tachycardia Syndrome (POTS) is one form of orthostatic hypotension. Most people have probably experienced orthostatic hypotension at some point — a drop in blood pressure upon standing that can make you feel dizzy. But POTS involves having your heart rate increase by 30 beats per minute (bpm) after 10 minutes of standing, or over 120 bpm in case your heart rate was already around 100 bpm. I didn’t learn that latter part until today, which will be helpful to know at my next cardiology appointment because the physical effort to get to the doctor’s office is enough to elevate my HR above 100 bpm.

Quality of life issues were plentiful enough with just the SFN diagnosis, but while I’ve had OH my entire adult life — I always got dizzy standing at my cash register when I worked my summer job at a grocery store in college — POTS is a whole other level. Keeping your legs elevated is one of the best things for you if you have POTS, which combined with my SFN and ME/CFS, keeps me mostly bedbound and requiring rest after any time I venture even downstairs in my home to sit in a chair with my feet on the floor. This is why outings to routine doctor’s appointments, with my husband driving and then pushing me in my wheelchair, are exhausting and lay me out in bed for the rest of the day after I return home. Blood tends to pool in my legs and feet, turning them a mottled purple. I take salt pills, aka electrolyte supplements, to counteract POTS symptoms when I go to physical therapy and when I take a bath and shower. Heat is a trigger for my symptoms.

I may have more rare diseases that could better explain other mystery symptoms I experience, but they are difficult to diagnose due to their rarity and their lack of inclusion in standard bloodwork. There are even more rare diseases that haven’t been identified because markers haven’t been discovered to base diagnostic tests on. And many rare diseases currently have to be treated symptomatically because it’s difficult to secure funding for treatment research when such a small segment of the population is affected. This is why I call on everyone to support patients with rare diseases and to advocate for research equity to improve quality of life and to save lives.

I hope the Mayo Clinic took heed of my dad’s wishes that his lab work and tissue samples be used for more Mantle Cell Lymphoma (MCL) research. First diagnosed in 2010 and in remission after R-CHOP chemotherapy and an autologous stem cell transplant, the cancer came back in 2013 and resisted treatment, and my dad died in June 2014. The 5-year survival rate for MCL, which is a rare form of non-Hodgkin lymphoma, was less then than it is now, and he was one of the 50% of MCL patients who died in that time span. The symptoms he’d first presented with, for reference, was that his voice increasingly sounded like that of a frog, which was caused by the cancerous mass in his throat that my mom could see when she finally decided to take a flashlight and look down his throat. Older men between 60–70 years of age are the most commonly diagnosed MCL patients, and while the cancer is genetic, it’s not hereditary, so my siblings and I should be safe from this particularly lethal form of cancer.

Do you or your loved ones have any rare diseases you’d like to raise awareness about? Drop the information in the comments. Maybe we can save some lives together.