Hutia te rito o te harakeke
Kei whea te Komako e Ko
Mau eui mai
He aha te mea nui o tenei ao
Maku e ki atu
He tangata, he tangata, he tangata
Take out the centre of the flax root
Where will the birds go
You will ask me
What is the most important thing in this world
My reply will be
Tis people, tis people, tis people
Despite the major physical limitations that Pompe Disease imposes on affected people, Freda Evans of Auckland travelled alone to a conference of the International Pompe Association in London, to meet for the first time with other affected people, to learn about progress towards therapy for this disease, and to put New Zealand “on the map” for those working towards treatment of Pompe disease.
Freda recounts her experiences:
Nineteen years ago I was the first to be diagnosed with the adult onset form of Pompe, a very rare and unknown disease in NZ at the time. Late onset is slowly progressive. The first symptoms can occur in early childhood, but can stay away until late adulthood which is what happened to me. The disease presents itself as a proximal myopathy. Fatigue, clumsiness, and difficulty climbing stairs are often the first signs. All of these I can now relate to and on reflection I think that it was a miracle that Dr. Andy Veale, my Respiratory Physician, was even able to make this diagnosis.
Eventually patients may become wheelchair dependent, a thought that often scares me as I am still very active in my daily activities. The pulmonary function gradually decreases due to muscle weakness of the respiratory muscles. Mechanical ventilation is often necessary, first during the night, then during the day depending on the extent of the weakness. I have been on overnight ventilation via Bi Pap machine from day “dot” as my lungs were proving to be very unreliable, eventually I will probably need full time ventilation, again that thought scares me.
With the lack of information about the disease here in New Zealand I set out to find answers through agencies like Muscular Dystrophy Association and LDNZ, the Lysosomal diseases support group. The central cause of the disease is storage of glycogen in the Lysosome of the body’s cells. I can say now that if you never take the first step to ask questions then you will be no better off. I may not have found all the answers I was looking for but I have formed relationships with people that I know are going to continue to be part of my existence.
As part of my search I registered on-line with the International Pompe Association (IPA) and became the contact person here in NZ, and eventually the IPA Rep for NZ. I have been fortunate enough to have travelled to Nottingham in October 2002, Germany 2005, France 2007 and London 2010 to attend IPA conferences. The thought of travelling that far away had never crossed my mind but if I wanted to know more about Pompe I had to make it a reality, so long distance travel has certainly introduced me to some very lovely people and experiences. I will be forever grateful to John Forman from Lysosomal Diseases NZ who was very instrumental initially in helping me to get funding so that I could attend these conferences. Unfortunately there were no facilities on board to set up any mechanical machine so it was out of the question to use my Bi Pap machine. So unless you have batteries for your machine to last the duration of the flight, you just have to amuse yourself the best way you can.
Although I have been the “new kid on the block” the IPA committee who are mainly from the UK and Holland have certainly made me feel very welcome. The conference agendas have often been “over my head” as the attendance is made up of scientists, researchers and members of the pharmaceutical companies. So my time was spent just listening and asking some of those 100 questions I had. The pharmaceutical company Genzyme has made an enzyme replacement treatment for Pompe patients. To receive this treatment is, and will continue to be my dream, if not for me but for any other person that is diagnosed with Late Onset Pompe disease.
No reira tena koutou tena koutou tena koutou katoa.