Trying to explain a rare disease

Bob the pharmacist always starts with a smile, and so do his associates at my favorite prescription counter. I know they’re smart, because a pharmacy degree is among the toughest to earn. I know they want to help, because the speak up with tips and comments and they answer my questions.

One thing we don’t talk about is the missing prescription.

I pick up my bottles of pills for the heart, pills to block allergies, pills for aches and tensions, this and that — but there are no pills for what ails me because olivopontocerebellar atrophy still has no cure. It isn’t even easy to pronounce; hence its nickname, OPCA.

There are other rare diseases, and today’s afflicted are well served by the Internet. It has become almost magically simple to get in touch with others, patients and caregivers, who know about the most obscure diseases.

It is less simple to get in touch with medical specialists who are familiar with such things. Thousands of doctors may have lifetimes of experience in tens of thousands of cases without ever encountering someone with OPCA. Everybody knows what a headache feels like. Nobody who hasn’t been there knows what OPCA feels like.

People with all kinds of rare diseases post notes to each other in web sites. They belong to one of society’s least-known minorities. Here’s what some say in total frankness. I’m quoting real people, editing the words for context and to protect anonymity.

My family is clueless. I am a widow but when my husband was alive he also buried his head in the sand. People don’t realize that when I miss a social event I really can’t do it. They think I just don’t want to go.

This is one of the most common exasperations. Here’s a similar comment online.

My mother will call and go “Oh you sound sick,” in such a panicked voice that I end up comforting her. Then a few days later she will have planned a party that she will expect my husband and I to attend, which will mean driving there — spending the night and coming back the next day. Likely if I sounded sick a couple of days before, I am too sick to go; then we have the big fight that her daughter can’t come to her party. I actually found myself trying to take care of her, while I am battling an illness that has taken me from being an active athlete to a physically disabled person who has to has difficulty getting to the grocery.

There’s a Dear Abby heart in many who offer their personal counsel in the online support groups. They share observations like this one.

The people that matter the most are not always available to us emotionally. I always thought that parents, siblings, spouses, etc. “should” help with coping. Now I realize that my expectations were unrealistic. Unless I was in a counseling office with these relatives it is too much for them. Heck, it is too much for me a lot of the time, and I have the disease. I truly believe in support groups, wherever you belong, and reading lots of books and magazines about coping with a rare disease. I still struggle with specialists who understand the disease but don’t understand the person underneath the disease.

The father who upsets his adult child thinks he’s being helpful. That explains this note from one patient to others.

Every time my dad calls he says, “Wow, you sound so good today, you must feel great” ....what? Or when I see someone in my family they say something inane like “You look so good, you must be feeling good.” I could just cry. Sometimes, that is all I can do in a day is get dressed.... Invisible diseases, one neuro told me, are the worst to get family members to support. You look okay therefore you are okay in their minds.

Along with the communication problems among families and friends, there are some high points as well. Here’s the experience of one writer who shared online.

There are some friends who come over, bring lunch, laugh about the latest “news” and even take me for an outing. I have always enjoyed working with teens. The youth pastor at my church understands that I am ill and can’t always do. This year the youth Christmas party is at my house, all I have to provide is the space. I will get to enjoy a houseful of teenagers, and some good responsible youth workers, and all manner of silliness in my home. I found out that I can continue my work with teens, in a different way — we can’t go rock climbing, but I can listen when someone has a broken heart or provide a space to be that is safe. And maybe I am teaching them a bit about kindness.

Every day I get to read notes written from the heart by people whose lives might appear to be quite ordinary to their families and neighbors, because their diseases are unknown and invisible. Others punch their notes into computer keyboards accessible to their wheelchairs or beds, the effects of their diseases more evident to others.

One invisible symptom of rare invisible ailments is a particular kind of loneliness, a loneliness of frustration. Some folks begin to wonder about loose screws when their friend or relative with a rare disease tries to explain what it feels like. Who ever heard of a sore skull?

You mean a headache, says the friend.

No, it is not at all like a headache. The skull feels squeezed in a vice and the head feels full of bubbling oatmeal. Maybe it takes one to know one.