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Pompe disease affects just one in 150,000 people, and currently only one New Zealand patient is known to LDNZ. Despite the major physical limitations that it 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:

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.

Pompe disease or Glycogen storage disease Type 2 is a progressive muscle disorder. The disease is inherited in an autosomal recessive way, which means the defective gene is inherited from both of the parents, and occurs in different forms: Early onset (infantile) and late onset (childhood, juvenile, and adult).

Thirteen years ago I was diagnosed with the adult onset form of Pompe, a very rare and unknown disease 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 as nobody else at the time in New Zealand had ever been diagnosed.

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 had to have a Bi Pap machine from day "dot" as my lungs are 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 proteins 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 and became the contact person here in NZ, and eventually the IPA Rep for NZ. In October 2002 I was invited to attend the International Pompe Association AGM in Nottingham, London. The thought of going there had never crossed my mind but if I wanted to know more I had to make it a reality so it was "London here I come". I will be forever grateful to John Forman from Lysosomal Diseases NZ who was very instrumental in helping me to get funding so that I could attend the conference, and who also dealt with the last morning "hiccup" at the travel agency. A "big shout out to you" John.

First stop Bangkok, a 12 hour flight. Unfortunately there are 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 to last the duration of the trip for your machine you just have to amuse yourself the best way you can. I chose to read and of course watch every movie and have little "cat naps". I had a 2 day stopover to "re boot the body" then London bound on another 12 hour flight, and the same procedure again. Nobody told me that there was more than one terminal a Heathrow airport so when this "little Ngapuhi" finally arrived there and walked outside not only did the cold hit me in the face, so did the size of the place. Wow what a sight...

I was picked up from the airport by the chairperson and his wife of the UK Pompe Association, who I had only spoken to through email, and who I eventually ended up staying with after the conference. They have a 12 year old son who was diagnosed at a early age with Pompe and is now just having to get used to having a Bi Pap machine at night.

On then to Nottingham, a 2 hour drive from the airport. I had my first meal in London at Robin Hood's forest. So peaceful. The hotel where the conference was being held I classed as a marae so before I went inside I stood in the blowing wind and rain and thanked my tupuna for getting me there safely. I was just starting to feel lonely as it was the first time I had ever travelled alone and to London of all places. I had to at that point have a long awaited sleep before meeting up with the group. When I did later on in the night it was so good finally being in a room with people that shared the same pain, the same fears, the same dreams and almost the same "waddle".

Although I was the new "kid on the block" the IPA committee who are mainly from the UK and Holland certainly made me feel very welcome. The conference agenda was often "over my head" as the table was made up of scientists, researchers and members of the pharmaceutical company, so my time was spent just listening and asking some of those 100 questions I had. I did learn that the pharmaceutical company Genzyme continues to make good progress within its program to develop an enzyme replacement treatment for Pompe patient, focusing on patients with the early onset infantile form of the disease. I hope that eventually they will allow the treatment to be tested on the adult onset form. That is and will continue to be my dream, if not for me but for any other person that is diagnosed with late Adult onset Pompe disease.

No reira tena koutou tena koutou tena koutou katoa.

Freda Evans.

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