Lysosomal Diseases New Zealand

Chairperson’s Report to LDNZ Annual Meeting, November 2004.

Covering the financial year July 2003 to June 2004, but including comments up to date.

An intense first half followed by quieter time. It is fair to say it has been a quieter year after all the energy associated with our highly successful conference in September 2003. We had hoped for a resurgence of activity with a couple of committees set up for various functions, but unfortunately they have not flourished.

Much of the work (probably about 80%) continues to be done by Jenny Noble and she makes a huge difference in fundraising, supporting families, making connections with professionals here in NZ, and maintaining some of our important overseas links. The remaining 20% of work that I have been doing has also involved some support for families, and some overseas links, but has mainly concentrated on issues to do with Pharmac and drug funding.

Major activities funded. Apart from the very successful conference in September 2003 we were able to provide grants totalling $13,000 for maintenance of two animal models and to support one clinical review. We also supported 2 attendances at the Pompe meeting in England, 2 at the Glycoprotein Storage diseases conference in Washington, 2 at the Australian MPS conferences (though 4 NZ families attended) and 2 at the Mainz Lysosomal conference.

Family connections.There has been good follow up with a number of families since that conference, an increase in total families in our network to 76 (up from 68 the previous year), and a few families who had gone no address, now connected up again. We have been able to speed up connections of new families to the Metabolic Service and other professionals, and the ease of rapid liaison with that service is very positive. A small number of families needing support have required a lot of input at times.

Patron/Trustees.An approach to a very suitable person proved fruitless as she had recently been appointed to a public office that would have produced a conflict, and she felt obliged to decline. It is desirable to add a patron and another trustee, but I believe it is more important to find the right person, than to act quickly. Suggestions of suitable people are welcome.

Website.This is an important part of our existence, and visits continue to rise, up from 500 distinct users a month 2 years ago, to approx 750 a month 1 year ago, to just over 1000 in the past month. The site is reasonably current on most pages, other than the description of research which is now out of date and need revision. We get feedback from around the world that our site is one of the key sources of information for new families. Keeping it current is a priority. Work is under way by one of Dave Palmer’s students to produce a cell map of the diseases to add to the site.

Fundraising. Jenny will report on this but it is a bit harder than when we had a major event to sell to funders.

Information for families. Work has started on a handout to go to specialists clinics. This is intended as the only printed material we will produce, with the website being the prime source of information for families and professionals. We became aware that some families seen at clinics were not necessarily receiving information about LDNZ, and we think a handout for the Metabolic Service, the Genetic clinics, and a limited number of other specialist clinics, should improve their chances of knowing about us.

Being in the picture. One of the problems LDNZ faces is that we seem to not be readily included in communications from other organisations and services. This includes the whole range of pharmaceutical companies, research institutions, specialist services and government agencies such as Pharmac. It can be difficult much of the time to know what is what, and a lot of time is spent chasing information and asking questions. We need to figure out ways to get more firmly on their radar screens. One example is specifically requesting input into a National Health Committee review of Management of Chronic conditions. Nearly a year after registering our interest we have had no contact from them. This is indicative of a need for all parts of the system to see patient/family advocacy groups as an important part of the whole picture, rather than a peripheral interest group. (Note: contact from the National Health Committee came just a few weeks after presenting this report).

Future conference? At the Australian MPS conference early this year we promoted the idea of a conference for all Lysosomal diseases in 2006 to cover Australia and New Zealand. We have felt this would be preferable to repeating our LDNZ conference at 2 or 3 year intervals, with many similar repeats in Australia, often using a similar core group of presenters. This seemed to be received with interest by the meeting but we have yet to see any commitment or progress on organisation. We plan to push this idea further but we are largely dependent on commitment from Australian groups for it to take off.

Medical support for LDNZ families. The presence of the Metabolic Service and the strengthening of its national role have clearly boosted the support available to those affected by Lysosomal diseases, but there seems to be some imbalance in the level of surveillance based on diagnosis (e.g. Gaucher or not) or location (Auckland region or not). Consulting to local specialists seems inevitable given our geography and health resources, but there seems to be varying levels of input into health concerns, and variable follow up, as a result of this.

Emerging treatments. The recent availability of ERT for Fabry and MPS1, and the recent completion of phase 3 trials for MPS6, and with advanced trials under way for several others, brings the issue of access to these drugs right to the fore. I am concerned that the companies might not put much effort into marketing them here, given Pharmac’s practices and tight restraints in our health system, and their much larger markets elsewhere. We need a plan of action to deal with the situation and I propose that we start with closer attention to the dose levels recommended for some Gaucher patients.

Quick summary. A very successful year financially and in terms of activity undertaken, but we need to regroup for a new set of activities and fundraising to meet them.

Regards, John

John Forman

Chairperson LDNZ

10 November 2004