Today we are hosting our first ever International Patient Workshop in Liverpool. In honour of this monumental occasion, we are introducing 2 of our international patients who have travelled all the way from Canada and Argentina to attend the workshop. In this week’s blog they share their AKU story and what the workshop means to them.
Meet Jim from Canada
My name is Jim Fish from British Columbia, Canada. I was diagnosed with AKU at 5 days old as my Mom was a nurse in a teaching hospital. My wife Nancy of 28 years and I are the parents of three wonderful children who are not afflicted. I continue to work as a V.P. for an orthopedic implant company with responsibilities in Canada and the USA. Golfing and swimming are my passions, and I still possess all my original parts.
In my case, an early diagnosis was a blessing that shaped my physical and educational pursuits. By participating in swimming and water-polo, my body stayed in shape without the strain of running or contact sports. By studying human sciences, I developed the tools to interpret the ongoing changes within my body as well as the skills to work within healthcare.
While socialised medicine is a wonderful resource, people with rare diseases can still be marginalized. Due to today’s overloaded health programs, patients with conditions out of the ordinary must actively manage their disease as many health care providers have never seen a patient with AKU. Justifiably, the orthopaedic and pain components of AKU are secondary to life threatening conditions like cancer and heart disease. Therefore it’s the responsibility of the patient to stay informed and to become a squeaky wheel in a crowded system.
This workshop is a cherished opportunity to learn more about ongoing treatment and rehabilitation from recognized leaders in AKU research. More so, this is also a rare chance to interact with other AKU patients from around the world to gain patient perspectives. These insights may well prove to be a “crystal ball” to guide all in how we can improve our quality of life in terms of mobility, pain control, and illness prevention.
Thanks very much for this opportunity to visit, and I’m looking forward to meeting with everyone!Meet Marcela from Argentina
I was diagnosed with alkaptonuria when I was 15 years old. My mother asked the doctor why my urine turned darker when in contact with air. The doctor got up from his desk, took a book from his library and then said a word that stuck in my mind forever. Alkaptonuria. He said that word without giving it too much attention.
I started to experience the first symptoms aged 37. From that moment, I knew what it was like to feel pain every single day of my life.
However I still try to maintain a good quality of life and do not let AKU stop me from achieving my goals. After some time you learn to cope with pain, you do not complain, you just decide to go on.
Having the opportunity to attend the International Workshop is so important to me. In my country, Argentina, to this date I do not know any adult with AKU. I only know of a 10 year old girl, who does not have any symptoms because of her age. Knowing that in other parts of the world they are trying to find a cure for it makes me feel hope. Doctors, nurses, professionals in different areas all working together to find a cure and to make the life of those suffering from it much better. That to me is just amazing.
I do not receive any specific support in my country. I do get standard healthcare that helps me cope with the consequences of AKU. It is not easy for some doctors to acknowledge they do not know anything about it. To this day, only two doctors I met were honest enough to tell me they did not know anything about AKU, which I do appreciate. This made them investigate and they started to support me and confront every new symptom.
The workshop will be the first chance I get to spend time with others who understand what it is like to suffer from AKU. I would like to know how they cope with pain, exercise, daily life, limitations, expectations, weaknesses and resilience. It will be very good for me and I will not feel as alone as I feel right now. My expectations on this trip are high, I know for certain that my life will not be the same after the event. Only a few days left and I cannot hide that I am a bit nervous and excited. It will surely be an unforgettable experience and above all a thriving one.
Thank you to all our international patients who have shared their AKU journeys with us. Reading what the workshop means to our patients is really moving and further empathises the value of building a strong AKU community where patients can support and learn from one another.
Thank you to everyone who has supported our fundraising efforts and contributed to making this workshop a reality. We are delighted to announce that in total we raised a massive £8,652.41! Next week’s blog will be all about the International Patient Workshop