A day in the life of an alkaptonurian

A day in the life of an alkatonurian

It was a great start to the day, with sunlight shining through the front door taking the edge off the chilly air. Scruffy the family dog was barking his melodies, for me to hurry up and take him to the back garden for his morning constitution and bonding, and so the day started!

The referral:

About every six weeks I visit my Doctor for my renewal of scripts, and a general follow-up on the progress of alkaptonuria. I had recently purchased a few books on “Rare diseases. Challenges and opportunities for social entrepreneurs. By Nicolas Sireau”, and presented him a copy, in the hope of enlightening him to the issues of rare diseases and the possibility of a cure in the 21st century. He was impressed with my small gift, and would be happy to read the book and discuss it with others. He was also surprised to hear that my operation booked one year previous to my visit, had as yet, not been performed. I was always of the concept that there was always some degree of communication between Dr and surgeon when it came to operations.

My Dr took up the cause, to find out the reasons for the delay on my behalf, and what it means when a Dr writes a referral to a surgeon, in conflict with his interpretation of when surgery is required and that of the hospital. To me it seems a conflict between two points of view. of Surgeon, Doctor and the breakdown in the hospital system, with the patient in the middle.

It’s a very sad day indeed when hospitals can’t function to their optimum, due to the constraints put upon them, and within, to service the health needs of a community. All indications point to the day of the big institutions coming to the end of their use by date, due to the consumption of billions of dollars and their lack of productivity in the 21st  century. Every body at some time in their life, will revisit a hospital either for injury, genetic disorder,  infection, operation and birth. To day you can easily add the “feeling of rejection”, from the monolithic structures, built to supply health care for the masses in their community, and are failing in their endeavors.

Funding research:

Funding for research into disorders and 80% are genetic, is becoming a daily event in social  media. Today giving is confusing to many! the number of good cause organisations amount to hundreds, and over saturation on social media is evident, not including my letter box. I can only conclude to this complex issue facing governments and many institutions, is to provide a ‘sustained income” for those organisations who don’t generate their own profit but provide relief and promote the importance of dealing with the orphan drugs and rare diseases that impact millions in the world. Yet, requiring constant funding and awareness, to continue research into rare diseases, with the help from the digital world and ourselves.

 To the “Monolithic dinosaurs,” (hospitals) that times have changed and to start operating in a world, that has 24 hours in a day, and to accept, that the population has embraced the digital age! and to start using the technology to communicate with DR. Patient and hospital, for improved services, and productivity to the “benefit of society”. Instead of hiding behind inn-patient clerks, who are told to play games with patients in making decisions, on out of date diagnoses, putting them into categories of need and delay, adding to the anxiety and stress of the patient. Because of, out dated and entrenched ideas that refuse to change with the times. Leaving the door wide open for the private entrepreneur to take the most profitable, and leaving the unprofitable, like rare diseases, old age and disability to languish under the control of Government, who seem to be at a loss of what to do! because of increased population, falling revenue, and the constant demands placed upon Govt’s to finance services.

AKU society and patients like me, is becoming more relevant every day, in dealing with constant changes and the need to address the importance of finding new cures for the many rare diseases, in harness with pharmaceutical company’s, and Governments, Globalisation and selling the advantage of making cures available sooner, rather than later, to the advantage of patient and Government, reducing the burden on the over stretched, and over worked health system, to the benefit of all in society. and the reduced stresses on the patient.

Yes, I did run away from the opening lines and digressed some what! but in the end, the day brought many rewards and fun moments to see me through the day. I have no doubt, Scruff will want his walk tomorrow morning and play out his antics. All in the day of a lucky man!

Justin van kampen

Justin and alkaptonuria

 Living with a rare disease

alkaptonuria

“My father took fishing very seriously,” and would stay on the wharf, until somebody would come and fetch him. I was given this duty by my mother to remind him, that he was wanted by a higher authority.This memory comes to mind when I look back at the “freedom and ease  my body” responded to running the 12 km distance! And what it means today.

My mother must have thought it strange, that three of her sons had stained underclothes, when the other six of her children, showed no signs of the dark staining. I never knew if she had ever consulted her Dr. Or complained to anyone about it.

Visiting my DR for the first 27 years of my life proved mainly uneventful. the usual hour-long waits in surgery were the norm, and when your name was called! Once more you could discuss with him the bluish stains from the underarms and dark stains continuing to appear in underclothing. and developing stiffness in back and joints. Discussions were similar to those in the past, and related to food and detergents used to wash clothing. I did stress that my hip joints and back were becoming more restrictive. it was suggested to have physio and do exercises to balance out the stiffening muscles, which gave short-term relief.

Through those early years I worked in the car industry and served my apprenticeship as a motor mechanic and later became a service advisor for Toyota. I had now reached the age of 30 and by this time married and fathered two children a girl and boy. Life overall was good and all seemed normal . I could still exercise, travel and go camping, fishing, enjoy going out to dinners with family and socialize with friends. Any reference to discomfort was put out of mind.

For several years now i was involved in the mining industry. Doing exploration and bauxite drilling. After six years of part-time parenting,I decided it was time to stay home for a while and became involved in the fast food industry. Pizza Hut, and my family.

Diagnoses:

 By now the pain had increased and movements were becoming more restrictive. I visited my GP again, about the pain in back and hips. The answer was similar, except this time, he sent me out for x-rays. the results came back, which showed thinning of cartilage and calcification throughout my spine and joints. This was diagnosed as a form of arthritis. The dark coloring around my ears, in the eyes and skin was not diagnosed as being the same, or part of arthritis. My GP decided to make me a brace, which had two straps running down each side of my spinal cord to strengthen my back. This may have worked, except i couldn’t move in the brace. I thanked him for his efforts, but was unable to find relief in the brace.

An introduction was made for me, to meet DR Arthur Harris who was interested in my symptoms and introduced me to a panel of Doctors. This was the result.

” none of the assembled endocrinologist had treated a case of alkaptonuria and were therefore unable to give any advice concerning further treatment . I will assure you that I will keep a close watch on the literature and be in touch, if any new treatment modalities are developed . In the meantime , I would recommend the usual avoidance of trauma such as jogging, physiotherapy to maintain a full range of movements and the anti-inflammatory medications. It was now officially diagnosed with alkaptonuria by Dr Arthur Harris on the 3rd of April 1985.

Early History:

History has shown that in 1970, a team of American researchers from the USA found evidence of AKU in an Egyptian mummy and dated it around 1,500 BC. Over the years cases of black urine have been recognised in some cultures, some even thought a sign of great powers, given to them by the Gods. Others were smart enough and used black urine to their advantage and demonstrated, they were a prophet sent from God!

What is Aku:                                                                                                                                                                    

Alkaptonuria is one of those rare diseases , and ranges in frequency from one person in 250,000 to one in 500,000. In the UK there is an estimated 100 patients. This was one of the first genetic disorders found and noted by Sir Archibald Garrrod that followed the Mendelian inheritance patterns in 1902. London. Sir Archibald Garrod also termed AKU a ‘inborn error of metabolism” kick starting a new area of research in metabolic medicine. Through the passage of time Wolkow and Bauman and others made contributions to identifying the causes of AKU. The cause of AKU is the lack of an enzyme called homogentisic acid dioxygenase (HGD).Without this enzyme, the body cannot breakdown an acid called homogentisic acid (HGA), which becomes toxic and accumulates at 2,000 times the normal rate. This leads to dark urine, but it also attacks bone and cartilage and turns it black and brittle – which is very prone to wear and tear through out the body. As this cartilage breaks down over time, body movements become extremely restricted and eventually leaves bone on bone to rub against each other , causing very painful osteoarthritis.

Mid life:

I had recently turned 42 years of age and my movements and pain “worked in unison,  becoming more pronounced”. I again visited my DR. To have x-rays done of my knees and joints. This is one excerpt of the many reports and reads like this, The presence of a right-sided favela not previously seen. the previous views were correctly labelled. A review of the literature reveals the fabellae can become more visible with increasing age and increasing degenerative change. This confirmed the start of the continuation and breakdown of cartilage. I accepted the verdict and was happy enough to put my trust in doctors ,and await a possible cure in the future.

The treatments followed a similar pattern of physio and exercise. I still enjoyed working and living the family life, as long as the pain was under control, you ignored most of it. and didn’t make rash movements to traumatise the joints.This time I had gained a position up North in the mining industry as Admin. This entailed overseeing core cutting , pegging , sampling most of it done with choppers, air transport , cleaning , fuel storage, introducing people to safety on uranium site, food and beverage, and on site behaviour the list goes on.

One evening Senior Geologists ,project geologists  and field hands were waiting to depart for Perth, the plane was waiting to take off, but as per the norm, two of the passengers hadn’t shown up! walking back to my office to pick up the stragglers. I suddenly felt a sharp pain up my right leg , this sounded like a shot being fired! when I went to pick up the leg and continue walking , my right foot had taken on a drooped appearance. This was starting to become a habit, for it wasn’t that long ago I snapped my left  Achilles tendon, that comes along with a sick feeling. The stragglers arrived, brought about by my swearing,  We all sat down on the curb, cracked a tinny and laughed at the situation. I found a pair of crutches, reorganized the flight and left for home. Knowing that my time in isolated places was at an end. Head office offered another position, but due to my health and personal problems. I left the mining industry for good. I had reached the limit of my physical abilities and denial was now turning into reality.

More tests:

My body was starting to feel like thickened jelly, no matter what part you wanted to move, there was compromise in doing the action. Once again, more tests were becoming the norm of the day. I was now 43 and more testing on the agenda of hope. After a while these become an ordeal. Especially those operating scanners and x-ray equipment, I was referred to Dr Norman Wilkenson who followed up on the tests and identified the condition of alkaptonuria, after Arthur Harris and referred me to Dr. Paul Zilko a specialist in rheumatology and pain management. My treatment started to improve with injecting cortisone in the joints, which gave me some relief along with1000mg naprosyn an anti=inflamatory drug. This went on for another seven years of adjusting to the constraints, put upon me by the developing joint decay of alkaptonuria. My posture had become stooped, and the neck, hips and shoulders solidifying in the joints and tendons around them keeping the pressure on the joints. The future was looking more like surgery was now inevitable, at the age of 52.

Surgery:

Prior to joint replacements, my prostate was removed due to calcification. Cataracts in both  eyes were removed a short time after the main operations. Pain management had come to an end. I was now unable to walk properly due to the damaged cup and split ball in my right hip which was starting to seize in the joint, excelling pain to new levels.( pain killers were not over prescribed and never seemed strong enough to counter the pain, for fear of constipation!) My wife phoned for the ambulance, to take me to Charlie Gairdner Hospital, for the beginning of surgery.

professor Wood the orthopaedic surgeon performed the surgery and replaced the right hip joint.Following on, one year later the left hip (1996) was replaced , and 2 years on both knees were replaced. All operations were very successful in giving me back my mobility, taking away the majority of pain and giving me back my quality of life. To Professor Wood and Paul Zilko i am indebted. a year or so after the operation of my hips, I dislocated both hips at different times, due to over extending. I had forgotten joint limits, after the third time, it had sunk in! gymnastics was not for me.

Kozak in 2002 replaced my right shoulder, leaving out the cup due to the damaged joint. This ended up with the ball sitting on the edge of the cup and hinging there. reducing my mobility. This did cut down on the pain as long as the arm wasn’t over extended, so working within the confines of movement is partly controlled by the flexibility of tendons and joint condition.

I inherited a staph infection in 2005, and was fortunate enough to survive the ordeal. This was due to the bottles of antibiotics running through me night and day. The other time it showed up was in 2008 and it infected my left foot. Treatment was an ankle clean out and doses of antibiotics. Once again coming to the party to heal serious infections. I am a very fortunate fellow to survive these ordeals of health, because i always felt i was skating on thin ice.

Having been self employed to the age of 56 in fast food,  after the mining stints up North and now long hours in fast food. Dealing with divorce, legal matters, family, the drive to succeed in business and a host of bad decisions! left me burnt out. AS much as I tried to resist the changes going on inside me I slowly started to succumb to depression and the ever present and unrelenting alkaptonuria. I decided to call it a day and retire from the workforce.

Life after sixty:

This is the  time to plan trips and holidays. But being depressed robs you of a positive mentality and the inability to look outward and stay in tune with those around you. So it was easier to withdraw into yourself and carry a good dose of low self-esteem to go with alkaptonuria. By now it looked unlikely that a cure or drug would ever come to pass and be of any help.

My condition at 65 had by now taken hold of all my movements. i could no longer turn my neck, except for a deg left or right and looking up was now impossible due to the calcification through out the vertebrae and thinning cartilage. Making a fist is not possible, and holding small objects, or doing up buttons very difficult. Sitting in normal chairs has now become very difficult, due to the body going into lock down and now require help to stand up. today i sit in an elevated position, preventing the trauma of standing up.

Over time learning to live with a body that is continually changing and setting new physical limits, due to the processes of homgentisic acid on cartilage and soft tissue, an ongoing process that is unrelenting. As age increases, so will every day present new challenges. The main one is to start the day with soft exercises, then walking and wearing shoes that will give you the most absorption and the least impact on the joints. The most difficult exercise to deal with, is the frame of mind, for each day is a mind changer! and full of challenges. So being positive, along with focus and setting goals, is still the best cure for handling alkaptonuria.

The Founder:

Robert Gregory himself a sufferer of AKU and his Doctor L. Ranganath established the AKU centre in Liverpool. Through their efforts the first National centre dedicated to treating alkaptonuria had become a reality.

Having been in a state of ignorance, and believing that alkaptonuria was the unknown (orphan) I was one of those who lived in obscurity, and thinking that my brothers and I, were the only ones with this disease in Australia. SO I thought! How wrong wasI ! Meeting People in patients like me. Was a break through and the jolt needed to bring me back to reality. The first thing I realized, You are not alone! Especially with the staff and patients group, that play a big part in Patients like me, to share their stories and to make you feel you are no longer an orphan. But an important player in contributing to the hope and direction of finding a cure for rare diseases, especially for alkaptonuria, that will one day help the following generations. Because of the AKU society and patients like me  , that dream will be realized for the benefit of patients who have the debilitating disease of AKU and other rare diseases. To them and to  all those who contributed, I will always be grateful.

AKU patron of the society dedicated to Robert Gregory:

Lord Kenneth ward -Atherton, officially opened the first national AKU centre quoted. ” This centre would not be here if it were not for one man. Robert Gregory.  It is an honour to officially open the Robert Gregory National Alkaptonuria centre, on his behalf. This centre not only represents the culmination of years of hard work from Robert, Dr Ranganath and many others. But the beginning of a new era in the fight against AKU.” to Robert Gregory and all the dedicated people, I say Thanks and for leading me into a new direction of hope, and the possibility of finding many cures in the future , for the treatment of rare diseases and to give back a quality of life to those who suffer the indignities of a rare disease.

Full circle: 

To meet patients with a rare disease like me, share the experience with others. Everybody has a story to tell and it’s always interesting. Being part of a support group for rare disease day, and the push to drive Governments and Pharmaceutical company’s, and to make them  aware of the importance of finding a cure, funding research, following up on medical cures as they become available. and to speed up the processes  that determine the availability of drugs to sufferers of a rare disease.

The most important step after setting the cogs in motion, is to keep driving the change! That is going to give back to patients their quality of life, that medications has deprived them of for so long. Thanks to the AKU Society, staff and Patients like me.

justin van kampen

05/04/2013