The Book of Rare Diseases

There are no rare diseases, only rare, delayed diagnoses.

This site is new and still being built. Everything on it is real work and the sources are shown, but some areas are thin and you may find something wrong. If you do, say so. Nothing here replaces someone who can examine you.

Not sure how serious this is? Where to call, and when.

Start with a phone call. Your doctor’s office has a triage line and a nurse will talk it through with you. They are good at this, they do it all day, and it costs nothing. You ring the main number and ask for the triage nurse. There is no charge and you do not need an appointment.

If it feels more serious than that, go to urgent care. You will usually be seen faster than at a hospital.

If it feels life-threatening — chest pain, trouble breathing, confusion, no urine at all for a day — call 911 or go to the emergency room. Do not wait until you are sure. Take the more cautious road.

A disease gets called rare because it is rarely found. The signs were usually there for years, in tests somebody already ordered. This book is about the finding.

Most people arrive at these pages carrying one phrase: chronic kidney disease. It is a true description and it names no cause. Two of the causes that get looked for last are inside that circle, and one of them can be the reason for the other.

Rare disease, or rare diagnosis?

When you are told a disease is rare, listen to the word. It is doing more work than you think. A disease is called rare partly because few people have it — and partly because few doctors go looking. The second half is the half that can change.

Both conditions in this book are examples. One of them, MGRS, was only named as a separate thing in 2012. A doctor who trained before that learned the underlying blood finding was harmless and needed only watching. The idea that it can quietly damage a kidney is newer than most of the careers treating it.

Two ways in

Start from what is happening to you — the index. Plain words, no disease names. Use this one if you are frightened, or if nobody has given you a name yet.

Or start from a name, below, if you already have one.

Contents

One chapter for each condition. Every chapter opens with the sentence a person actually arrives carrying, not the name of the disease.

• I was told my kidneys are failing and nobody has said why Chronic kidney disease — the label most people are given. A stage number, a follow-up in six months, and no name for the cause.
• My blood has an odd protein and my kidneys are getting worse MGRS — one doctor watches the protein, another watches the kidneys, and nobody is watching whether the first is doing the second.
• My biopsy came back saying C3 C3 glomerulopathy — a word from the immune system on a kidney report, with no plain explanation attached.
• My child is delayed, has seizures, and nobody can say why SYNGAP1-related disorder — one gene, a test that finds it, and a question that is usually never asked.
• Itching and skin changes nobody has looked at properly Lichen sclerosus — treatable, and routinely missed for years, partly because of where on the body it is.
• I started a statin and now my muscles ache Usually nothing much. Occasionally the start of something that damages the kidneys, and one cheap test tells them apart.

More chapters are being written. A chapter goes up when there is enough behind it to be worth your time, and not before.

What this is, and what it is not

What it is: what is known, where it came from, and the questions worth putting to the person treating you.

What it is not: an examination. Nothing here can tell you what is happening in your body. It can tell you what is worth asking.

Part of the Vermont Synergy Initiative. It costs nothing to use, and no one is ever turned away because of cost.