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December 2003 - from LDNZ Secretary, Jenny Noble

As we come to the end of a very busy year for LDNZ, I sit here and reflect back on what we have achieved over the last few years and the many challenges that await our attention in 2004.

For those of you who have the conference bug there are several coming up in 2004.

• ISMRD 1st International Conference on Glycoprotein and Related Storage Diseases 1st—4th April 2004
• Australian MPS and Related Diseases Conference in Melbourne 16th—18th April 2004.
• 8th International Symposium on MPS and Related Diseases 10th—14th June 2004 - Rheingoldhalle, Mainz, Germany. The International Lysosomal Conference is also held at this time and runs along side the MPS Conference.

For new families and first time conference attendees, LDNZ are able to offer some assistance to the Australian MPS meeting. If there are any families who would like to attend this meeting but need some assistance could you please contact either John on 04 566-7707 or Jenny 07 548-2686

Chairperson's notes

The great success of our conference in September had the predictable effect of leaving the organisers just a little tired and in need of a break to recover their energy for the follow up activities. We hope there will be a good restoration of energy in the New Year to take on a number of issues we have on our agenda:

1. Gaucher treatment. Following up with Pharmac to ensure that recommendations of the expert panel are implemented promptly, to ensure optimal treatment for all patients. We have already been corresponding with Pharmac on this topic and will continue to press for a speedy resolution of this issue.
2. New enzyme replacement therapies for Fabry and Hurler (MPS1) diseases. These new therapies will involve lobbying of Pharmac to ensure that appropriate treatment is made available, and to ensure there are not excessive delays in getting these treatments implemented once the treatment is licensed by Medsafe.
3. Management of chronic conditions. We have already participated in discussions with the Paediatric Society and the Ministry of Health about the need for better management plans for those with chronic conditions, especially at the time of transition from paediatric to adult health services. Now the National Health committee, an advisory committee to the Minister of health, is going to take a look at these issues in the New Year and we will ensure the issues are also brought to their attention. We hope this might result in better processes for dealing with complex conditions needing input from many disciplines, and minimise some of the delays and frustrations some of us experience.
4. Supporting AgResearch's transgenic cows programme. With AgResearch now making progress on the project to produce recombinant enzyme for Pompe disease from transgenic cows, LDNZ is involved in supporting this through communicating to overseas patient groups that make enquiries about the project, and putting out press releases to NZ media when necessary to counter some of the ill-informed criticism from some quarters. We expect some significant progress in the New Year with this exciting project.
5. Supporting patients and families. A big part of our role is to ensure that patients and their families can get the information and support they need. This involves supporting them to get access to appropriate services, to attend conferences to strengthen their knowledge, linking them to other families with the same or similar experiences, supporting their funding applications for specialised equipment, and assisting with advocacy when needed.

I hope the New Year also see all your energy levels restored for the year ahead.

Regards,

Notes from the Microphone

Time flies when you get busy and the weeks have just flown past since the conference at Waipuna. For me this was a very emotional time where we almost seemed to come “out of the cold” as an organisation, a group of parents and affected individuals. I think it is so important to give ourselves all a pat on the back for having the courage and the will to meet as a group and to address issues and problems head on with each other and the medical and scientific professionals that were present.

As I said on the final morning after that most memorable dinner, when you name something new, you are recognising its birth, and the conference gave birth to a vital and strong support group that will provide a voice and direction for research, therapies and treatments for our affected members. Bloody well done everyone.

Laurie Hill Reports on his trip to Germany for the International Pompe meeting.

I am a 41 year old male and was diagnosed in 1990 as having Acid Maltase Deficiency (also known as Pompe disease).

Pompe disease is caused by a complete or partial deficiency of the lysosomal enzyme, alpha-glucosidase. This enzyme is necessary to break down glycogen and to convert it into glucose. Without this enzyme, glycogen, a thick sticky substance, accumulates in the lysosomes (sacs within the muscle cells) and leads to severe muscle degradation. It predominately affects the heart, skeletal, and respiratory muscles of the patient. Pompe disease is one of a family of 49 rare genetic disorders known as Lysosomal Storage Diseases. It affects an estimated 5,000 to 10,000 people in the developed world.

At the end of October my wife and I ventured to Heidelberg, Germany for the second International Pompe Conference. The following is a brief report on the conference with a summary of some of the presentations.

The conference was a huge success. Listening and speaking to medical experts was amazing. I learnt so much in just a few days.

Meeting with other patients however, was as equally, if not more, amazing. One of my biggest apprehensions about going to the conference (apart from how the 20 odd hour flight was going to affect me) was to meet up with other sufferers.

Being only one of two people in New Zealand with Pompe Disease is a lonely prospect but meeting up with a room full of people at varying stages of the disease was quite a nerve racking concept. My fears were however totally unfounded. Yes, I did meet up with patients worse off than I am (a glimpse of the future?) but before long the disability was forgotten and friendships were formed. So much was learnt and e-mails are now flying around the world sharing thoughts, fears and general conversation about the different countries we all live in and the things we do.

The organisation of the conference was supreme. The venue – Heidelberg in Autumn was perhaps the most amazing place I have ever seen. It is a university city that is looked down upon by a huge castle situated at the edge of the Black Forest. The architecture is just unbelievable – like something out of Hans Christian Anderson’s fairytales. Many, many thanks to the IPA for their hard work and to John and Lysosomal Diseases New Zealand for their support.

Laurie Hill

Our overseas guests at our September 2003 Conference   
                         

David Sillence, Ed Wraith, John Hopwood, Auckland Sept. 2003

Our sincere thanks to these three very special men for their on going support of all families and adults affected by Lysosomal Diseases.

Sympathy

Sadly this year we also mourned the loss of the following children.

Robyn Barclay & Jeff Cook’s daughter Ellie aged 18 months who lost her battle with Gangliosidosis.

Wendy and Eric Boon's son Ryan lost his battle with MPS 6/12/03.

We wish to extend our deepest sympathies to their families and friends

KYPHO (our kiwi mascot) Says

There are just three problems that people affected by Lysosomal diseases have to overcome, and they are the "three Rs" of our health system - politics, policy and Pharmac.

Politics is sensitive to voting which means that high incidence diseases will inevitably get the greatest attention, because those with the loudest collective voices are more easily heard, and because improvement in those conditions will improve the budget sooner. Unfortunately politics seems to be just a bit too blind to the needs of things less common.

Policy is the slave of politics, and though many very able people work in health policy and planning, their first objectives are to make the health gains in the common diseases that cost so much, leaving our rare conditions in a state of relative neglect.

Pharmac's generally good overall performance in pharmaceutical budget management obscures a continuation of the same sort of inherent discrimination that occurs in the political and policy areas, as far as our diseases are concerned. We are subjected to delays and a generally "hard row to hoe" in getting treatment decisions. But there must also be valid questions as to whether high cost treatments for rare diseases can ever be treated with equity, when they are being assessed in the same pool as drugs for common disorders.

The solution? It needs to be a political one, where the particular needs of about 8% to 10% of the population affected by rare diseases, including all of our Lysosomal diseases, are treated with a special focus from a special budget that allocates research money, specialist health services and drug treatment, when no common diseases are considered from the same rationing process. Identifying the solution, alas, is likely to be much easier than getting it implemented, I suspect.

Regards, Kypho. 

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