The Book of Rare Diseasesfrom the Vermont Synergy Initiative

Let’s look at your symptoms

We are not doctors, and this is not medical care. It is only here to help you organize your thoughts and talk with your doctor. Nothing you tap is sent anywhere. Answer a few questions, see which possibilities grow, then take what stands out to your doctor — and post it to your patient portal so they have it before your visit.

Start from what is happening

From the first edition of the Book (8–11 September 2026): “Start from what is happening”.

The index

Not from the name of a disease. You do not need to know one, and most people who end up in this book did not have one for years.

Find the line that sounds like your week. It points at the chapter that has something to say about it. Where nothing here fits, that is worth knowing too — this book is three chapters old and covers a small corner of a large subject.

  • Foam or froth in the urine that will not go awayFoam usually means protein. Protein in urine is the single most useful sign in this book.Chapter One · Chapter Two · Chapter Three
  • Urine the colour of tea, or visible blood in itBlood together with protein points at the filters themselves.Chapter Three
  • Passing much less urine than usualThis one is not for reading about tonight. Ring somebody.Chapter One
  • Swollen ankles or legs, or shoes that stopped fittingFluid the kidneys are not clearing, or protein lost from the blood.Chapter One · Chapter Two
  • A puffy face or puffy eyes in the morningSwelling that shows first in the face is a different pattern from swelling in the feet, and it matters.Chapter Three · Chapter One
  • Swelling that arrived over days rather than monthsSpeed is information. Days is not the same as years.Chapter One
  • Tired in a way that sleep does not fixThe commonest opening line in this whole book, and the easiest to have dismissed.Chapter One · Chapter Two
  • Breathless lying flat, or waking short of breathFluid where it should not be. Worth a call rather than a read.Chapter One
  • Up several times a night to pass urineCommon, and has many causes. It belongs on the list because it is often the first thing anyone noticed.Chapter One
  • Itching all over, with no rashAn old and much-ignored sign of kidneys not clearing waste.Chapter One
  • Bone pain that is new and does not settleIn the company of an abnormal protein this changes what needs looking at.Chapter Two
  • A bone that broke more easily than it should haveSame reason.Chapter Two
  • Numbness or pins and needles in the hands and feetSome abnormal proteins affect nerves as well as kidneys.Chapter Two
  • I was told I have protein in my urineHow much matters. Heavy protein loss narrows the possibilities sharply.Chapter One · Chapter Two · Chapter Three
  • My creatinine went up, or my eGFR went downThe kidney number, what it measures, and the thing it can get wrong.Chapter One
  • My kidney numbers look normal but I feel worseThere is a known reason this happens, and a second test that settles it.Chapter One
  • A biopsy report I do not understandTwo words on those reports do most of the work: C3, and light chains.Chapter Three · Chapter Two
  • I was told I have MGUS and to just watch itWatching is right when nothing is being harmed. That is the part to check.Chapter Two
  • Two specialists, and neither one owns the whole pictureThe gap between departments is where the years go.Chapter Two
  • Years of this, and nobody has a name for itStart at the beginning of the book. The word rare is doing more work than you think.Chapter One

If none of these is you

Then this book does not cover your situation yet, and saying so is more use to you than sending you to the nearest thing. The triage ladder above works whatever is happening. More chapters are being written.

Back to the contents.

Every line here is a phrase people actually use, not a symptom name. A line points at a chapter only where that chapter genuinely covers it. The site’s own recorded lesson: an earlier matcher sent “ankles swell at night” to a prostate page through the word night. A wrong door is worse than no door.