The story from an AKU patient

Living with a disease is tough at the best of times. There are added complications when it’s rare because of the general lack of knowledge about it. Here’s a story from Janet, an AKU patient, who recently posted on our online communities project run by Eurordis:

‘My name is Janet and I’m from the United States. Have you ever heard the saying, “Enjoy Life because in a blink of an eye it can all change”? In February of 1996, that is exactly what happened to me. I went in for a simple outpatient procedure on my knee and when I came out of recovery, I was told that something was not right, but they were unsure of what was wrong. The doctor explained that he had never seen anything like it but would consult with a team of doctors before telling me his diagnosis.

I returned to the doctor and was given a piece of paper with only four words: ‘Diagnosis: Chondromalacia possible Ochronosis’. He told me to make an appointment with a rheumatologist to confirm his diagnosis. I left the doctor’s office bewildered at the possibility of having an unexplained disease.

I went to the rheumatologist, handed the piece of paper with ‘Diagnosis: Chondromalacia possible Ochronosis’. The doctor replied that he felt no need to run test, that it was extremely rare and he did not feel that I had this” I begged him to please run the test for my piece of mind.

Two hellish months later I returned to the doctor for my test results. The doctor asked me one question, “If you were told that you had something wrong and nothing could be done to correct the problem would you want to know?” My answer was “Yes, because I need to know how it will affect my future”. The doctor said you have a rare incurable disease called Alkaptonuria Ochronosis.

The floor dropped from underneath me. I was full of questions. The doctor was sympathetic but basically he didn’t have any answers. He explained with rare diseases they don’t do research because so few people have it. They may never find a cure. The doctor referred me to the Children’s Hospital for Genetic and Metabolic Disease and said they would be able to answer my questions.

First question I had was, “What is Alkaptonuria Ochronosis”? The doctor explained that I lack enough of an enzyme called homogentisic acid oxidase. Because of the missing enzyme I have a buildup of homogentisic acid. I eliminate some in the urine but the rest is deposited in body tissues where it becomes toxic. The result is Ochronosis, a blue-black discoloration of connective tissue including bone, cartilage, and skin caused by deposits of ochre-colored pigment.

It is almost like gradually being poisoned. You won’t necessary die but the toxins are building up and destroying your insides. The damage causes arthritis. First it is mild, than moderate, until it gets in the severe stage and at that time you may require joint replacements. So besides the AKU you also suffer from osteoarthritis (degenerative joint disease).

I’m now in my mid 50s and over the years I have lost 4 inches in height, have blue colored ears, a brown spot in my one eye, walk with a forward stoop, have kidney stones and my teeth have discolored. I also have had several surgeries hip replacement, gallbladder, Achilles tendon rupture, and both shoulders need total replacements. Every day I wake up in extreme pain, and to get out of bed I have to pull on my blankets to be able to lift myself up. I suffer from chronic pain in almost every joint. I’m forced to take pain and arthritis medicine so I can cope.

I explain it like this to family and friends: can you imagine having the flu or a cold and never getting rid of it, every day feeling bad, some days worse than others? My spine hurts so bad that one wrong move and I get muscle spasms; it feels like I’m getting zapped with a taser gun. It’s not always easy for people to understand why I can’t do things like I did at one time. I’m exhausted constantly due to the pain. Everything I try to do is difficult for me. My sleep is interrupted; one wrong move and I wake up instantly in pain. Over the years the disease has caused depression and difficult times. I have been frustrated due to unanswered questions and the loneliness of a disease that no one seems to understand.

When a person has cancer they have support groups. When you have a rare disease it feels like you are so alone and no one cares. You are told that they may never find a cure because you are just a few and it would not benefit them to research your disease. I have done research myself for 15 years to try to get answers to my questions.

In the last few months I have heard of medicine that could take away about 95% of the toxins but the problem is cost and FDA approval in the United States. I know a cure in my lifetime may be out of the question, but when medicine exists and could slow down the progression of this disease we need to fight for ourselves and others so we can stop the suffering.

On a positive note I would like to educate others so no-one has to be alone and suffer. I will talk to any doctor or person who will listen. In the future I hope that we can get support and funding for research and eventually a cure for this painful and debilitating disease.’

Nick says: Janet’s story is a harrowing one and shows once again the urgent need for patient groups to help people with rare diseases. If you’d like to find out more, go to the Online Communities project.