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4 February 2002

Welcome to the New Year everyone. We hope it will be a good one for all of you.

In this issue

1. Extracts from our annual report
2. Future plans
3. Conferences coming up in Australia (April) and Europe (June).
4. Request for help
5. Website update

Attachments - only for NZ families receiving this by post

1. Our audited accounts for 200/2001
2. Programme and registration form for the Australian MPS and Related Diseases Society conference in Canberra in April

Chairperson's annual report.

These extracts are from the Chairperson's report to the Trustees of LDNZ, for the 2000/2001 year. Commentary also covers matters through to the end of 2001.

Fundraising

Since the Trustees last formal meeting in September 2000 there was a flurry of income for specific items such as witness expenses for the Royal Commission, and money which we held on behalf of PKU and NZORD. However this activity disguises the fact that it has been a very lean time for LDNZ for the past 18 months. The only significant funds received for our own purposes were:

• Half of the $5,000 from the Scottwood Trust, which was used for the Batten families' attendance at the Sydney conference, and the balance of $2,500 given to NZORD.
• $2,000 from the Rehabilitation Welfare Trust for conference attendance.
• $500 from Genzyme
• $500 from the Big Chill Café.
• $1,000 from an unsolicited donation following Jenny Noble's letter on GM to her local newspaper.

There has been a lot of effort put into fundraising by Jenny and myself with very sparse returns over this period, compared to $7,000 received in the period Sept 1999 to June 2000. Fundraising flow is very unpredictable.

Late in 2001 we received a grant of US$1,500 from TKT, as an unconditional gift towards our objectives. This translates to NZ$3,545 and is a very welcome addition to our coffers. We hope that similar grants from the key biotech companies working on Lysosomal diseases will provide us with a core income in the future.

(editor's note: $3,500 has since been received from Genzyme, with our grateful thanks).

Royal Commission on Genetic Modification

Our input into this commission was a major focus of our efforts over the past year and a half, and there have been several comments that our case was seen as very significant, by the Commission and by other observers.

Continued monitoring of the issues are needed though, as the whole issue of anxiety about biotechnology continues to influence politicians and others in the community, and we will need to ensure our voices keep being heard.

Managing funds

Holding money for PKU and NZORD till they became incorporated was not a major chore, but was a significant thing we were able to do for other groups. NZORD will now be able to fill that role for other groups, leaving LDNZ to concentrate on its own particular diseases.

Battens conference

The grant from the Scottwood Trust enabled us to subsidise 5 Batten families to get to the first Batten conference in Australia, early in 2001. Another family paid their own way and Dave Palmer (Batten researcher at Lincoln) also attended. This was a very significant event as many of the NZ Batten families had only communicated by phone in the past. It was the first chance for them to get together and all were very pleased with the knowledge gained and contacts made.

Planning meetings

Jenny Noble and myself attended a planning weekend with the Australian MPS society in Sydney in February 2001. This will strengthen the links between groups in both countries and will impact on the content of their conference and newsletters. We also encouraged them to think more Lysosomal and less MPS, so they are more inclusive of the related disorders. Half the cost of the trip was met by LDNZ and half by our hosts.

Jenny and I also got together for a planning session in May 2001 to set the groundwork for the activities of LDNZ for the future. More details below.

Finding families

Not a very successful 18 months on this count. We heard about some NZ families that we don't have on our list, who are affected by Fabry, Niemann-Pick, Kuffs, Sandhoff, and Alpha-Mannosidosis, but we had direct contact from only three of about twelve. Our earlier survey of Paediatricians also indicates a number of families we don't know about, and who may not know about us. That is why finding families is a top priority for the coming year, and further surveys are planned.

Our total LDNZ contact list includes 8 Batten families, 5 Gaucher families (with links to more through the Gaucher Assn.), and 33 MPS and related diseases. However, some have gone no address, and some are the families of patients who died many years ago. Our total of 46, should be more like 146, so there is a long way to go in finding them.

Building our networks becomes more critical as more progress is made in developing therapies for more and more of the Lysosomal diseases. Good links and communication will improve the chances of our families participating in trials and gaining prompt access to the therapies as they become available.

Overseas contacts

In addition to our close links with the Australian Society, a lot of work has gone into building contacts with the main biotech companies involved in Lysosomal diseases. These links are well established with Genzyme and TKT, and in the early stages with Novazyme, OGS and Biomarin. TKT assisted with my trip to Washington and Boston in June last year, and to the Human Genetic Society conference in Cairns a few months later. On the way to the Cairns conference I was able to meet the Fabry Support group in Sydney, and I arranged for Teresa Llewellyn-Evans (Australian MPS Society President) to be there also.

Links with a number of key international patient groups have been continued or established, including the US and UK MPS Societies, the French Lysosomal group, and NORD, the Genetic Alliance, and the Tay-Sachs organisation in the US. This is considered important because of the need for international effort and information sharing on virtually all aspect of our orphan diseases, from research investment and priorities, to screening, testing, trials, and delivery of therapies.

I cannot resist a mention about the Art of Advocacy Award given to me by the Genetic Alliance at the People's Genome Celebration. This was partly for the work on LDNZ, the submissions to Royal Commission on GM, the setting up of NZORD, and my work with the International Mannosidosis group. I am very grateful for the support and encouragement given by LDNZ Trustees in all this work, and conscious that so much of this has been a team effort, that I could not have achieved on my own.

Summary

A moderately successful year, but we could do better.

Our Priorities for the coming year

The Trustees of LDNZ have confirmed a plan of action for the coming year. A quick summary of this includes:

1. Focus on Families - information, support and newsletters
2. Keeping our website up to date - adding more clinical and treatment information and links to relevant sites
3. Fundraising - of course
4. Building our links with the Metabolic service - an enhanced service that had now been formally launched, and should be of great value to all of us who are affected by rare metabolic conditions
5. Support the development of the NZ Organisation for Rare Disorders - to work together on matters of common interest for all "orphan" diseases

More details about these issues in our next newsletter - a special edition - in a couple of months, when we will focus on the needs of families and patients, and include information about clinical care issues in the NZ context.

Conferences

Announcing two conferences of relevance to families affected by Lysosomal Storage disorders.

The Australian MPS and Related Diseases Society conference in Canberra from 12 to 14 April 2002. Copies of the programme and registration form are enclosed for our NZ families. This is a unique conference that blends understandable scientific and clinical information, with a wonderful family programme, and provides excellent creche and care services that allow adults to participate fully in the programme, while the children have lots of fun.

Jenny Noble, a parent from Nelson and an LDNZ Trustee, will be speaking about their family's experience with Pamidronate, an experimental treatment for pain management and bone restoration in Mucolipidosis Type 3. The benefits they enjoy are a good example of the advantages of attending conferences and learning as much as possible about even the rarest conditions.

LDNZ has budgeted funds to support a number of NZ families to attend, so please let us know as soon as possible if you are interested in attending.

The International MPS and Lysosomal Diseases conference in Paris from 20 to 23 June 2002. We hope to support two or three people from NZ to attend this Conference, subject to finances. This is a more technical conference but does have a family and patient programme, with emphasis on research and support group organisation. We welcome interest from those who would like to attend and use the knowledge gained to assist LDNZ in pursuing its mission.

Assisting Local Diagnosis

The initial screening that is done for Mucopolysaccharide diseases, which are some of the more frequently found Lysosomal diseases, usually takes the form of a urinary analysis, in which the patient's urine is tested for accumulation of substances known as GAGs. If that test is positive, various other more precise tests are done at specialist centres, to confirm the diagnosis.

We have been asked by Canterbury Health Laboratories if we can assist them by arranging urine samples from those who have a confirmed diagnosis. The lab uses these samples with a known abnormality, as controls in their testing of other suspected cases. It is very easy to help. Simply collect urine over a 24 hour period in a thoroughly cleaned container, then deliver it as soon as possible after collection to the Lab at your local hospital. Ask them to send the whole sample (not just a portion of it) to Christine Leaver, at the Clinical Biochemistry Unit, Canterbury Health Laboratories.

While the request is for the MPS disorders in particular, the lab has indicated that samples from other MPS related conditions would also be useful to them too.

Website update

Our site has had some further additions to it. Of particular note are the extra stories posted from patients and families affected by Lysosomal diseases, and we have now added links to some of the key pharmaceutical companies engaged in research and development of enzyme replacement therapy for several of these disorders. Check it out at www.ldnz.org.nz (now at http://www.nzordgroups.org.nz/lysosomal/default.asp).

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