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Here we hope you will be able to share in the hopes and fears, triumphs and setbacks of people diagnosed with Alkaptonuria. We are indebted to all the contributors for sharing their experiences with us.

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Hello everyone. I am a 42-year-old female retired from nursing due to poor health. I have 4 daughters none of whom have been tested and with no reason to suspect AKU. Except my 21-year-old daughter has kidney stones. Strange? I have known since birth I have AKU, I was also a 34-week pregnancy. Anyhow, I started having problems with kidney stones at 17, then gallstones at 18, when the gallbladder was removed - odd at that age - then more kidney stones at 19. Then no more for 8 years. With my fourth pregnancy, it was worse than ever. I still have stones to this day.

Somewhere in my late twenties I started having low back pain, and always seemed to have achy tired legs and back. I went through all kinds of tests from ages 32 till 36. 2 herniated discs at l-4 and 5. I opted not to have surgery due to my age.

I don't know if it is yet resolved. I am unable to get an MRI due to claustrophobia. Anyhow I had had all the tests, Dr.S couldn't find much, why the stones? Problems with adhesions after surgery, due to collagen not healing properly? The back pain kept getting worse. I tried local nerve blocks, physical therapy, tens unit. During my late 30s I couldn't deal any more with it and couldn't get anyone to listen except a physiatrist an M.D. specializing in spinal cord injuries. Anyhow she did a procedure with glucose water in the ligaments in my lower back and that pain is still gone unless I really strain it.

As for the rest, I noticed a big change in the last year or so - my mobility is decreasing faster, I stay active, walking, skiing in winter. I keep my weight 134 lbs  to  lessen the weight my bones have to carry. But pain in my shoulders and hips wakes me at night. I have problems with my elbows and knees too, possibly inflammation. My spaces look OK, I cannot take steroids, so I take MS contin for pain, I also have a pheochromocytoma, which gives me unstable blood pressure. I put out large amounts of protein in my void, and have already had one bout of renal failure, I recovered quickly, I sure felt really bad though. My ears have a very noticeable bluish tinge to them and do hurt if I lie on them or it's very windy or cold and they're not protected. I have some spots in my eye, very dark brown, my eyes are green, and there's a small spot on upper gum line. I have had many hospitalizations due to kidney stones and infections. My hands are complicated by Reynaud's syndrome, so I have no feeling in my fingers most of the time. I seem to be clumsy. I cannot feel my arms in relation to my hands and body, that sounds strange but it's how it feels. Like my shoulders are disconnected.

I take each day as it comes and deal with a bad day the best way I can - vegetate! On bad days, my knees feel "hot", my hands are red and warm, I feel even more pain, and just feel "yucky". My biggest problem with AKU has been getting all my Doctors to understand if my condition had anything to do with AKU and, since most had never heard of it or didn't want to put the effort into learning, or already had a huge patient load, whatever, it caused many problems over the years. I learned to trust my instincts. Just because a man has M.D. next to his name doesn't mean he knows everything. And I have told them so. I just went out and looked till I found what I needed, then of course I was "Dr shopping". Believe me, I kissed a lot of frogs before I found a prince. My internist is primo!!!! He will order anything I ask him to, refer me to anyone or order any test. But he's willing to learn, in fact, that's how I first heard of the latest article from NIH. Of which my brother and I were in that study.

My other diagnoses do not help me. With a pheo, it's like flipping a switch and my blood pressure will start to rise and it feels pretty bad, I've only been hospitalized twice for it. When my blood pressure goes up high I start to vomit and cannot stop nor keep down my meds. So our goal is on keeping the blood pressure under control so my kidneys will last as long as possible, nor would a stroke be much fun. I took part in the study at NIH with my brother Jeff. We met Big John and Nick. My brother has had no kidney complications but he has Wolff-Parkinson syndrome. When he was 21 his heart fibrillated at over 1000bpm. He had to be defib 2 times. He's ok - he's 34 now. We both have enlarged aortic notches. I pretty much take it easy now, take a muscle relaxer when needed, Accupril 2 times a day. The funny thing is I sure look normal, and try to have a positive outlook on life. I have a beautiful granddaughter, and everyday I can walk on my own two feet is a holiday to me.

Thanks Kimberley for sharing your experiences with us. If you have any comments or messages for Kimberley then post a message on our discussion page. And if you would like to share your personal story with the rest of the group then contact us here.

All was going well, I had a beautiful family and had just secured a job working for a well-known American motor company. Then in 1997 I started to get severe pain in my lower back and eventually collapsed at work with pain that was so severe it landed me in hospital for 2 weeks. After an M.R.I. scan, it was discovered that the lower and middle part of my spine had serious degeneration. The doctor explained that it was unusual for someone of my age (31) to have this much damage to my spine. I told them that I had a genetic disorder called Alkaptonuria and asked if it could have anything to do with it. The Doctor dismissed this and told me that it was due to the physical lifestyle that I had being living. He told me that there was nothing else he could do and  I would have to live with the pain and stiffness.

On the 2nd February 1998, I was asked to visit the Queen Elizabeth Hospital in Birmingham to meet an eminent American Geneticist, called Professor Victor McKusick, who was visiting the UK. He told me all I needed to know about AKU, good and bad!  He examined me and found that I had blue cartilage in both of my ears. He also noticed that my ear wax was dark brown/Black, another thing due to the AKU. 

In May of 1999 I was admitted to hospital again as I was having trouble urinating. It was discovered that I had several small prostate stones; again it was thought that they were due to the AKU.

On 24th June 2000, my wife gave birth to our second daughter Laura. We have not had her tested for AKU, but she has shown no signs of having it (no dark urine or staining of the nappies). 

Best wishes

Simon Laxon

Thank you Simon for your article and thanks for inviting people to contact you. When Simon is ready to receive private e-mails he'll put his e-mail address on the discussion board. For now you can send messages to him or Kimberley on the discussion board.

This article comes from Yvonne Metz who lives in France.

In July 1999 I had awful pain in my feet. I went on holidays with my family to Spain and took a lot of painkillers and it was painful for me to walk. When I went home I had an appointment with a rheumatologist.

He said it's arthritis and prescribed me medication, and on X-ray examination no bad results on hip cartilage. But pain was awful and painkillers didn't help so in September I went to hospital for a diagnostic. First I was in Neurology Department and got morphine injections, anti inflammatories and painkillers and after X-rays I moved to the Rheumatology department. The day after I gave all information to fill in my documents in rheumatic department I forgot to inform them that after standing my urine turns dark. As soon as I told it to my Rheumatism doctor in hospital I gave me a receptacle to put in my urine during the night and the other day it turned very dark.

So they sent my urine to a special Laboratory and informed me that I have Ochronosis. They were very kind with me and the rheumatologist explained that the solution is joint replacement when cartilage is gone. I suffered a lot after having left the hospital and when I had a new X-rays in January 2000 all cartilage of my hips was gone and I suffered bone to bone pain. So I had an urgent appointment with my surgeon. He told me that he had a surgery of Ochronosis of a man who was about 60 and had a knee replacement after having both hips replaced at the age of 46-47 like me. So I had both hips replaced at the 18th April 2000 and after physiotherapy, swimming pool gymnastic, walking and exercises my feet were good.

I remember that I had pain in my left foot, but now I'm well. I go to a gymnastic lesson of one hour once a week, gymnastic in swimming pool at my physiotherapist and walk a lot. When I'm only sitting at my computer it's painful for me, low back pain and nerve pain in my feet but moving is the best. I also drink a bottle of 2 liters of water every day to avoid kidney problems.

After my joint replacement surgery I wanted to lose weight and lost 14 pounds. I feel much better on my joint after having lost weight. I don't follow a special diet, but for dinner I eat a lot of fruit (which aren't rich in phenilalanine or tyrosine) and just a feculent food or food which isn't rich in calories.

Before going to bed, instead of taking a painkiller, I have a warm-hot bath or shower and sleep very well and would like it would be so forever.

Thank you for your article Yvonne. If you would like to send a message to Yvonne then post one on our discussion board.

Hello everyone,  My name is Paul Whitehead. I am 60 years old and I was diagnosed with AKU in 1989. For the last three years I have lived in  New Florence Missouri, USA. I lived most of my life around St. Louis Missouri.

My problems started in my lower back in my early twenties. By the age of 25 I could not stand straight and walked bent over. I was told by one doctor that I had the back of a 70-year-old man. My lower back has fused itself and is not as painful now. I have seen many different doctors but got very little relief. They didn't know anything about this disease.

I was usually told to learn to live with it. I worked as an auto body repair man, which is a fairly physical occupation, and had many days that were very painful. I have taken almost all of the anti-inflammatory drugs that have been available in the last 35 years. In 1989 I saw Dr. Steven Ross. He immediately saw the specks in my eyes and the dark cartilage in my ears. He told me that he had seen only one other case in his entire career. Even though there was no real course of treatment, it was good to know what was wrong, I think one of the worst things about this disease is not knowing what is causing all the pain. Dr. Ross wanted me to stop working at once but that was not possible. I continued to work three more years and then retired with full disability.

I still see Dr. Ross even though it is 70 miles each way to his office, In early 1994 I had arthroscopic surgery on both knees, which only made them worse. Later that year I had both knees replaced. That was almost ten years ago and I am just starting to get a little pain back in one knee. In 1998 I tore my right Achilles tendon loose from the heel and had surgery to reattach it. Since then I have had physical therapy for the left Achilles tendon and other joints. For some strange reason my hips have not been affected until recently and are not very bad yet.

I have not had any kidney stones as a lot of people have with this disease. I went to the NIH in March of 2001 to participate in the AKU study. They told me that the progression of the disease is about average with me but that I needed to have both shoulders replaced. I have been putting that off. I am going to try to get one done this winter. I also am having trouble with trigger fingers on both hands. The right is much worse that the left. I have been taking celebrex for the last few years. It seems to work better than any others I have tried. I also take pain medication when needed.

Best wishes, Paul

Thanks for your article Paul  - we always appreciate people taking the time to contribute their personal experiences.

From Bill Fowler

Hello to all. I am a 60-year-old male from South Dakota. When I was 2-1/2, I was admitted to a hospital because my mother was concerned about reddish-brown discoloration of my diapers.

Examination of the urine showed a positive sugar test indicating diabetes. Upon further examination, it was found that another substance in the urine caused a false sugar reaction with the test. My doctors diagnosed me as having alkaptonuria and dismissed me from the hospital with recommendations to take vitamin C. I have three sisters, one of whom recently tested positive for AKU.

I began to experience symptoms associated with AKU beginning in my late teens. Initially, I only noticed bluish pigment in the cartilage of my ears. However around 1976, I started treatments with a chiropractor for back pain and stiffness and have subsequently been receiving treatments periodically.

X-rays showed ochronosis of the lumbar vertebrae. By the time I was 50, I began to have kidney and prostate stones. I also developed brown pigment in the whites of my eyes. Now the ochronosis has affected my back, neck, shoulders, hips, and knees. However, I have not had any of my joints replaced yet. At first, the chiropractor treatments were very helpful for my joint pain. But as the disease progressed, the treatments had to be modified to be less intense because the joints couldn’t take that much stress and thus were less effective.

One technique that has particularly helped me move my joints with less pain involves massage with a graston tool. Recently I have undergone physical therapy for my knees and now wear braces designed to keep my kneecaps in their proper position. I have also experienced dizziness, the origin of which could not be determined by a neurologist. I assume it is related to AKU. I worked for 36 years as a software engineer. Recently I have been unable to work because of this dizziness and the joint problems associated with ochronosis which have severely limited my range of motion and ability to walk. I have applied for social security disability and am awaiting the decision.

Before I found out about this group, I felt isolated. I was uncomfortable talking to doctors about AKU because it seemed that they were not associating some of my problems with AKU. Now I know that other AKUers are experiencing similar problems and this disease is not a benign condition like some doctors may think. I am happy to share any experiences I have had dealing with the medical system or social security disability issues.