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This journal is a diary of John Forman's efforts to promote research and improvements to information and clinical care for Lysosomal Storage disorders, and to develop the support group, LDNZ. It is written as a record of events and contacts, and to assist those who may wish to pursue any interest in the disorders by informing them faster of what has been done, and who is doing what. By this time in the course of events, the journal is increasingly covering work associated with NZORD, the New Zealand Organisation for Rare Disorders, and associated activities.

May 2003 - May 2004

My year as a "Social Entrepreneur."

Some of these grants caused such a political furore, I though it best to explain in full exactly what I did with my $14,000 grant from the Social Entrepreneur fund, and publish the report as widely as possible. Read it and you will find out why it involved a third trip to Washington for the same main purpose, why it paid to advertise a garage sale, why it involved visiting a guinea pig named Elton, and why the total expenditure does not tally with the grant received. Decide for yourself if it was money well spent, after all, it was your tax dollars. Here is what I submitted as my report:

This is my report on the use of the $14,000 Social Entrepreneur Grant received by me in May 2003. The objective of this grant was “to have continued the development work provided to NZORD, LDNZ, ISMRD and the planned International Genetic Alliance in order to support and enhance the non-profit groups that focus on genetic and rare diseases”.

My role with NZORD is a full time paid role and my involvement in the International Genetic Alliance flows from that. My involvement in LDNZ and ISMRD are volunteer roles but closely associated because of the rare disease connection. Information about NZORD is available at http://www.nzord.org.nz  Links to the others are given in the report.

The first activity undertaken was attendance at an establishment meeting for a proposed Australasian Genetic Alliance, in Sydney in May 2003. Attending this were genetic support group representatives from Queensland, NSW, Victoria, Western Australia and the ACT, and the meeting was successful in setting the groundwork for a network among our groups that will have its own energy, but is also intended to be a regional arm of the International Genetic Alliance (that I am also a participant in). Genetics is an increasingly important factor in all out lives, and our groups see a strong alliance of patient/family interest groups, as an important contributor to discussions on ethics, regulation, privacy and benefits of genetic information and research. This meeting involved a two night stay and total costs of $1,328.18.

In June 2003 I spent $94.56 advertising a garage sale at our home to raise funds for ISMRD, and felt justifiably entrepreneurial when that modest investment produced $1,045.00 for this international group that provides support and information about Glycoprotein Storage diseases. With (at that stage) barely a dozen families in ISMRD world-wide actively working to promote research into causes and treatments for these “super-orphan” diseases, this money is an important contribution towards a special scientific workshop later held in Washington DC in April 2004 (see details below) and bringing together more than 40 world leading researchers to map out the challenges ahead for them. The workshop came about largely through the personal efforts of ISMRD’s International President, Paul Murphy, and myself, working with the Office of Rare Diseases and the National Institutes of Health, to ensure this meeting took place.

From 6 to 10 July 2003 I attended the International Genetics Congress in Melbourne, at a total cost of $3,305.60. This major conference was a great opportunity to reinforce the earlier work done to establish the Australasian Genetic Alliance, and the establishment of AGA was announced at the meeting of the Human Genetic Society of Australasian AGM held at the same venue. HGSA is the professional body for those involved in human genetics and this gave considerable opportunity for awareness raising about AGA’s existence and purpose. Other networking at the conference enabled links with leaders of HGSA, and raising the possibility of AGA input into HGSA standing committee on ethics. This is all in the context of NZORD being recognised by the NZ Branch of HGSA as the Genetic Interest group in NZ, and since that time a website has been set up for AGA http://www.australasiangeneticalliance.org.au/ and preliminary steps taken to share information and support each other in the work we do. An important opportunity on this trip was to attend a half day meeting of Lysosomal Diseases Australia (I am also the chairperson of Lysosomal Diseases NZ) and meet many of the leaders of the Lysosomal support groups in Victoria, and the professionals involved in LDA.

In August 2003 I attended the ANZCCART conference in Christchurch. This is the body concerned with care of animals in research and teaching, and the meeting was highly relevant for its theme of discussing the level of scrutiny versus confidentiality of animal research. It was addressed by two politicians interested in animal research and by a researcher associated with animal rights issues. Though I did not have an opportunity to formally present a patient/family perspective, there was plenty of opportunity for informal discussion with many of those present, and to learn as well as contribute information about the benefits of animal research to human health. I did make some important contacts with people who would prove to be key players in later NZORD initiatives. The cost of this trip was $585.75.

Later that month I had an opportunity to visit Adelaide for other purposes, so took the opportunity to visit two genetic interest groups, the South Australian Muscular Dystrophy Association and the Cystic Fibrosis Association, to discuss their State’s possible involvement in the AGA. I also met two key people in the South Australian Genetics service to discuss similar issues, and visited a key Lysosomal researcher at the Womens and Children’s Hospital to discuss research opportunities, and the forthcoming Special workshop on Glycoprotein storage diseases. A highlight for me was to meet Elton, a guinea pig that shares with me carrier status for Lysosomal-D-AlphaMannosidase deficiency. Such encounters may have obscure relevance to some observers, but are important factors in motivating me in the work I do. As some of the costs of this trip were met elsewhere, the only charge to the Social Entrepreneur grant was airfares and some incidental costs, totalling $1,418.44.

On 5 and 6 September I met with a number of key people in Dunedin to discuss proposals for bio-banks of animal and human material. The idea would be to gather natural animal models of human diseases, and ensure they are protected and preserved to enable and encourage research to take place on the diseases they represent. Concurrently NZORD would gather blood, tissue and other material donated by patients and families affected by rare disorders, to encourage research efforts into those diseases. Over two days I met with half a dozen people from the University, private companies and Crown Research Institutes to check if the idea was feasible, and to assess the possibilities and pitfalls. The SEF costs of $633.75 were well rewarded. There was support and encouragement, plus commitment from some to be key collaborators in the proposed tissue banks. Being in Dunedin was also a great opportunity to catch up with JB Munro and have detailed discussions about disability issues, and my new role on the Ethics and Values working group for Inclusion International.

From 12 to 14 September I spent $873.75 attending the first New Zealand conference of Lysosomal Diseases New Zealand. I had a key role in raising initial funds for this conference and setting the programme, as well as facilitating parts of the event. It was the first time NZ families with Lysosomal diseases were able to get together and hear detailed information about the basic science, treatment and clinical care issues, emerging therapies, drug funding issues, etc. The event drew in a number of key science, clinical and policy people and was a very important step forward for the approximately 100 people who attended. Further information about LDNZ is available at www.ldnz.org.nz

In November 2003 I attended Health Research Council seminars on Saving and Sharing Research Data, and Innovative Practice and Ethics, spending $55 on registration to ensure at least one consumer perspective was represented. That month I also attended the NZ branch meeting of HGSA, giving one presentation on disability ethics. Cost of attending that meeting was $220, including registration and incidentals.

In February 2004 I attended the New Zealand Bioethics Conference in Dunedin, giving one workshop presentation on the ethics of prevention of intellectual disability, and also participating in two panel responses to speakers. The purpose of my attendance was to present patient/family perspectives, and to encourage professionals involved in these issues to think more inclusively in their speaker lineups and invitees. After all, the issues they discuss impact most on patients and their families in medical treatment and research, and we need to be included more in the debates and policy setting, rather than being the abstract “subject”. Total cost of this trip was $849.60, kept very economical by the Spartan confines of Salmond Hall as venue and accommodation. Going down a day early also gave a great opportunity to discuss our biobank proposals in more detail with several key people at Otago University and in associated organisations.

On March 4 and 5 2004 I combined attendance at a Health & Disability Commissioner’s Seminar with a chance to meet a number of animal and human health researchers at Auckland University to canvas views on the biobanks previously discussed in detail with Otago and Massey researchers, and to seek interest in collaborative opportunities in these banks. Positive responses as well as constructively searching questions were received, plus a lot of useful information with which to proceed. Total cost of airfares, accommodation and incidentals was $716.06.

Also in March I attended part of the LexisNexis Biotechnology and Law seminar to keep up to date with relevant issues, spending $279.00 on part registration.

1 April to 4 April 2004 was a personal highlight for me in my year of entrepreneurial activity. I flew to Washington for the special Scientific Workshop and Family Conference on Glycoprotein Storage diseases (mentioned above) that I had a big part in getting set up. It was my third trip there in as many years – two to ensure it happened, and now to attend it. My efforts, and especially those of ISMRD President Paul Murphy of Baltimore, had resulted in over US$60,000.00 being committed by the ORD and NINDS to this workshop. The combined fundraising efforts of myself (also mentioned above) and other ISMRD families raised an additional US$25,000 to round out the total costs involved. Conference information is on the ISMRD website at www.ismrd.org This was the first time this group of diseases had ever had such focus on them by such learned researchers from around the world, and with many of the more “common” (1 in 50,000 or so) Lysosomal diseases now having a lot of research efforts under way, leading towards treatment in some cases, it was perfect timing for these neglected super-orphans to have their day in the sun. The value of combining family meetings with scientific was strongly emphasised by the information sharing generated, the enthusiasm of the researchers for this format, and some new lines of enquiry being explored from this meeting. Fellow Kiwis Paul and Jenny Noble were also there and contributed extremely well from their long experience of ML3 in two of their children. The Kiwi aspect added another satisfying dimension to the event, showing how we can contribute strongly and positively to epistemological evidence in very rare diseases, and help inform families and researchers worldwide. It was an intense 4 days with long flight times before and after. I got out of the hotel for just a few hours one evening for dinner. I arrived home exhausted, but feeling deliciously, excitedly, unassailably and entrepreneurially satiated. All the stress, uncertainty and sacrifice had paid off. Scrutiny of this SEF expenditure is most welcome.

More people will then know we had caught a very big fish here. Part of my travel costs to the ORD/ISMRD meeting were contributed by LDNZ, so the total offset against the SEF grant was just $1,912.36 for internal flights in the US, conference registration, accommodation and incidentals.

To round off the year, in April 2004 I attended the Australian MPS Society conference in Melbourne to strengthen the links between their organisation and LDNZ, and took the opportunity to promote ideas for rationalising Lysosomal conferences in the region, and strengthening the strategic work of our groups. Total cost of that trip was $2,106.70, including fares, accommodation, registration and incidentals.

By now the grant was well and truly spent.

Some observations on the SEF grant and the year it covered:

1. Ironically, the grant led (indirectly) to reduced funding from Lottery Welfare for NZORD, and coinciding as it did with a reduced Ministry of Health grant at the start of 2003/04, left less money available than the previous year, but a bigger set of commitments. We were “saved” late in the financial year by a top up from the Ministry.
2. The total demands prevented some of the intended enhancements to our website, yet we still managed to win an “Excellence in Health and Disability Information Management” award, which has just recently been announced by the Ministry of Health and Health Informatics New Zealand, for our website and our information network. The website is www.nzord.org.nz
3. The budget submitted for the SEF grant stated that $8,000.00 would effectively be salary subsidy for me, to supplement funds I receive from NZORD for my core work for that Trust. In the end, all of the SEF grant was applied mainly to new initiatives associated with developing NZORD, ISMRD, LDNZ and the Genetic Alliance organisations. Some things were just too important to be left undone. The core work was mostly done anyway.
4. All figures shown are the full cost, including GST where applicable. GST had been paid on the grant received, but little GST was recoverable as much involved overseas expenditure. Unpicking the detail of this has not been attempted. A quick estimate suggests net expenditure of about $15,500 by me, from the $14,000 grant.
5. I have not reported here on the “business as usual” aspects of my year’s work – only the extra aspects funded by the SEF grant. The core work included organizing a major conference in Wellington in May 2004 for NZORD, participating in numerous other activities such as newsletter production, submission writing, consultation meetings, DHB committee work, trustee for several groups, expanding our support groups network, supporting individuals and other support groups, speaking at group AGMs and conferences, contributing to a number of forums on advocacy, ethics and disability issues, and plotting ways to outflank Pharmac.
6. The process of scratching around for bits of funding here, and bits there, in order to put together a coherent set of activities on behalf of genetic and rare disease interests, and quality information for those individuals who need it, is frustrating beyond description. How is it that so many people say how important and valuable our work is, yet leave us to do it on the smell of an oily rag? Observing funds granted to some other areas of health and disability activity can make this harder to bear.

I am most appreciative of the opportunities the SEF grant gave me. I believe it has made a significant difference to prospects for better information and support to people affected by genetic and rare conditions, and contributed some important steps towards getting more control over the incidence and severity of these disorders.

I trust you will also consider it money well spent. I need to sign off now as the Ministry has no funds available to us for 2004/05 and we run out of money in about 12 weeks. I have some urgent fundraising to do.

Yours sincerely,

John Forman
Executive Director
New Zealand Organisation for Rare Disorders