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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.

September 2000 - March 2001

Conference, Submissions, Evidence, Public Speaking and Planning

September 2000

In September our conference of over 80 people, representing more than 30 different support groups, convened in Wellington to set up a NZ Organisation for Rare Disorders. Parent to Parent played a key role in assisting this conference to get under way, by providing the administrative support and organising registrations.

The initiative for this new organisation came from our experience with LDNZ, which suggested that those who are affected by the whole range of rare disorders, and their families, often have considerable difficulty with the system. Getting good information, accurate diagnosis, access to specialist services, and the right treatment and rehabilitation, are often up to chance and good luck, rather than well planned and co-ordinated. There is also a strong tendency for money in research and health care to be targeted towards conditions that affect larger numbers.

We were well supported by IHC, Commissioner for Children Roger McClay, Genzyme Pharmaceuticals, and JR McKenzie Trust, with funding and other assistance. We had many excellent speakers and good time for group discussions involving families, affected people, clinicians and researchers. Special thanks to Professors Bob Jolly and David Sillence for their keynote presentations, and also to Drs Dave Palmer, Dianne Webster, Ingrid Winship, Mike Sullivan, Peter George and Nigel Dickson for their very informative presentations. In the final session Roger McClay was joined by Dr Pat Tuohy, Chief Advisor Child Health at the Ministry of Health, and Dr Bruce Scoggins from the Health Research Council, for a discussion session about the way to improve our lot in the future.

The energy and ideas from families and professionals alike was great to see, and there were many ideas and suggestions put forward. They were strongly in support of the establishment of NZORD and they reinforced a clear direction for NZORD. This will be focussing on ensuring there is early and accurate diagnosis of conditions, improved information for families and clinicians to ensure the best care and treatment, access to new medicines, good access to disability support services, and increased research efforts to understand and control these diseases. In addition, NZORD will put energy into supporting the development and efficiency of support groups for the many rare disorders that exist, and through those groups to empower the patients and families.

The conference also endorsed our involvement in the Royal Commission on Genetic Modification after hearing several presentations on current and future trends in research and treatment of rare conditions, most of which are genetic in origin, and more likely to be treatable with advances in genetic research. We will make submissions to protect the interests of those affected by rare disorders, and to encourage innovation and investment in this area of research.

An opportunity missed. Almost making it is not good enough, I know, but almost making it to an interview with Kim Hill live on National Radio, about NZORD's conference, lysosomal diseases and the GM issue, was tantalisingly close. That made it all the more frustrating when another topic became hotter than ours. Next time maybe. But good news came in the form of a modest surplus from our conference, so just over $1300 is salted away for future NZORD activities.

During September there were good contacts established as a result of our conference, and with other patient support group who will present evidence to the Royal Commission, to look at strategies and getting organised.

October 2000

Early in October, Judith and I visited an art exhibition by Marion Freigard, parent of Joanne who has Sanfilippo disease. Marion is another of the parents who faced lack of knowledge and at times lack of tolerance through the late 70's and 80's, and who suffered for the ignorance of those who should have known better. Marion's watercolour art is a tribute to her strength and tenacity, as well as her talent. She continues to nurse Joanne at home in the advanced stages of this severe disorder.

A few days later I made a breakthrough - an invitation to speak at a Rotary club in Wellington, thanks to club member Bice Awan, Director of Skylight, a children's grief counselling programme. Several attempts at trying to make the right contacts had all failed prior to now. I can start spreading the message in circles that might make a difference in the longer term.

The Royal Commission process is now well under way and the initial hearings have started. A number of families have agreed to give evidence and preparation of our submissions is begun.

After completing a fundraising budget for LDNZ through to the end of 2001, I travelled with Judith to Christchurch, and while she attended a library conference I met with medical and research contacts there, and Ann Swarbrick, another Sanfilippo parent whose son Glen is nearly 20. Four days in the beautiful lakes district rounded out the month. Visiting Tekapo, Te Anau, Mt Cook, Wanaka, Queenstown and Milford Sound is beautiful and spectacular almost beyond description. A great rest and a lift to our spirits. Home to another funding rejection letter. Such is life.

The process of preparing formal submissions to the Royal Commission took a lot of energy and concentration, but we got them in by the 30 October deadline, for both LDNZ and NZORD. Dr Mike Eccles, researcher in genetics of cancer at Otago University, provided great help with drafting the NZORD submission, and Bronwyn Gray, Sharon Kortas, Anita Nicholls, Jenny and Paul Noble, Gillian Deane and Steve and Sharon Eskrigge, all did a wonderful job of preparing stories that reflect their personal experiences and their perspective of life with a lysosomal or other rare disease in their family.

November 2000

November produced some good news. Genzyme donated $500 for administration costs for LDNZ. Callum Wilson, who has just completed his specialist training in Metabolics in England, has returned to NZ to a locum position at Starship Hospital. Dianne Webster, Ingrid Winship and I presented a successful workshop on genetic causes of intellectual disability at IHC's annual conference, and my first Rotary Club presentation went down a treat with the members. I handled gracefully the mild rebuke for not requesting a donation.

Work preparing for our presentation to the Royal Commission was helped by the offer of powerpoint audio visual facilities by Bong Wong and his team at Multi-Media Productions. It was certainly a challenge getting that put together, and preparing a script to go with the visuals, making it a challenging yet exciting month for all of us.

Watching the progress in the hearings, and reading the evidence briefs on the website, did cause anxiety though. There were a lot of submitters arguing for tight controls of genetic modification, many of them making statements and claims that pose a major threat to medical research, and a significant minority of them putting forward outrageously ill-informed positions about medicine, research, and alleged alternatives. Also of concern was the small number of patient advocacy groups taking part in the process, with just three other small groups involved. This led to a sense of responsibility for LDNZ and NZORD to closely monitor the hearings for themes of significance to patient groups.

There was time at the end of the month to prepare a handout for the NZ Paediatric Society conference, advising them about LDNZ and NZORD.

A new contact from a family in Wanganui with a daughter affected by Sandhoff disease, has increased the mailing list for LDNZ to 41, up from 19 just two years ago. We also have indirect contacts with about 12 more through the Gaucher and Batten support groups.

Over the past six months we have had contacts from families as far apart as Japan, USA, Czech Republic, Russia, Portugal and Spain, responding to our website. Fortunately I have access to some translators for some languages, but I am especially grateful the Japanese contact corresponds in English.

December 2000

A request for information from a health information service about Kuff's disease, made us aware that there was a newly diagnosed patient with this adult onset form of Batten disease, though we do not yet have direct contact with them. This highlights the fact that our contact list of families affected by Lysosomal disorders still covers barely a third of the total of 150 to 180 that is suggested by the incidence studies. Despite our efforts, it is also possible that some families still do not know about our organisation, nor about the research efforts and pending treatments.

The second week of December saw the culmination of many weeks of preparatory work when LDNZ and NZORD presented their submissions to the Royal Commission on Genetic Modification. Our team of family members did a marvellous job of presenting the human face to this often technical issue, and spoke with eloquence and passion about the hope offered for the future by new knowledge of genetics and the power of genetic modification technology. We were joined by Dr Mike Eccles as our scientific advisor, and by Dr Mike Sullivan, as our medical advisor, and both added authority and technical expertise to our presentation. Dr Dianne Webster was also presenting the National Testing Centre submission that morning and stayed on the panel with us for cross-examination and questions.

We believe our presentation went off extremely well, and we'd like to think it had a big impact on informing and influencing the four members of Commission. We are sure that the awesome audio-visual support from the team at Multi-Media added a crowning glory to our presentation, and we were thrilled to receive a lot of very positive feedback from a variety of sources, about all aspects of our presentation. Thanks also to the Life Sciences Network and the Deane Endowment Trust for their assistance with travel and accommodation costs for our witnesses' attendance at the hearings.

We wound down from the high of this experience towards the Christmas holiday period, receiving a further grant of $500 from the Big Chill Café and Bar, plus wonderful news of a $5,000 grant from the Scottwood Trust that was sought out by Viv Hill of the Batten support group. This will be used partly to support Batten families and partly for NZORD. Well done Viv! It made the rejection of my application for a Churchill fellowship a bit easier to accept.

January 2001

In the first week of January, the holiday period gave us a chance to do another newsletter and update the website. Doing those tasks is an opportunity for reflection on the progress we have made over the past six months. It is satisfying to see the increased number of family contacts on our list and to have maintained enough income to progress work on our objectives. There is also sense of satisfaction with the work done to date on the Royal Commission, and a successful launch to NZORD.

The update of LDNZ's objectives for 2001 covers completion of our work on the Royal Commission and further development of NZORD. But we also include supporting the development of an international Lysosomal Diseases Alliance and advocating for progress on the development of a specialist genetic/metabolic service for all of New Zealand.

In mid January, Judith had another library conference, this time in Sydney, so while she met with her fellow librarians and information services workers, I had several days to network with contacts at Genzyme, Diane Petrie at AGSA, and to discuss strategy around promoting a specialist service in NZ, with Professor David Sillence. A great new set of contacts was made this trip with members of the Australian Batten Support Group, and I was able to introduce Teresa Llewellen-Evans of the MPS society to Vanessa Anderson, Phil Rhoades, Carolyn Wright and Beth Sowry. Their plans for a conference on Batten disease are well advanced and we made plans to support NZ Batten families to get to Sydney for this.

Post conference there was the usual chance of a short holiday and we braved northern New South Wales in mid summer in a campervan, making our way to Broken Hill at 46 degrees celcius, then back to Adelaide and Melbourne. The highlight of the trip was meeting Ashlea Longe in Adelaide. Ashlea is a young girl with Mannosidosis, the same condition as Timothy and Hollie, and had a bone marrow transplant one year ago. It was a truly wonderful feeling to meet another Mannosidosis child, plus Ashlea's brother Bradley and her parents Michelle and Paul, and Grandparents Bill and Sandra. It was Judith's first meeting with another Mannosidosis child, and only my second, and their first contact with another family. Such contacts with other affected families are very special indeed, and a long evening over a traditional Aussie barbie with some fine food and great wine, was a wonderful way to celebrate the occasion.

February 2001

The power of the internet and modern communications came to the fore early in February. Following regular contacts with the Board of the International Society for Mannosidosis and Related Diseases by email over the past year or two, I was able to participate by phone conference with the rest of the Board as they went through a strategic planning workshop in Baltimore. It was the first occasion I had attempted anything on this scale at such a distance, and was pleasantly surprised how effective the process was. As with all such planning sessions, a good set of briefing papers beforehand is vital, along with a good facilitator, and with both those available from internet communications, we all managed to come up with a very effective plan of action for ISMRD. The internet is shrinking the world and making it far more possible for remote groups to work cohesively on common issues. Next time, no doubt, it will be by videoconference to make the connections even stronger.

In mid February I travelled to Auckland for hearings at the Royal Commission. While there I took the opportunity to meet Barbara Langston, a rep from TKT, a Pharmaceutical company that has developed a new enzyme replacement therapy for Fabry disease, and which is working on several more treatments for other lysosomal diseases. I was introduced to her by Darryl Woods who was acting as agent for the company in arranging Barbara's itinerary. This was a great opportunity to learn more about the progress that is being made with another of the lysosomal diseases, and to hear about this relatively new company's progress. Interestingly it also shows up the competition that is developing among companies developing these products. My understanding of the Orphan Drug regime in the USA is that it was set up to encourage investment in treatments for rare conditions that might seem treatable, but with an uneconomic investment prospect because of small numbers. The experience of Genzyme with their treatment for Gaucher disease, suggests that such investments can be rewarding, even when the incidence is rare, and this may have spurred some greater interest in rare disease research and development of treatments. The current situation appears to be one of active competition between Genzyme and TKT over treatment for Fabry disease. This will be a very interesting process to watch. Whatever the outcome of the battle between the two companies, it is to be hoped that it leads to the best treatment being available at the best price, to the maximum number of affected patients, in the shortest period of time.

While in Auckland I also had an opportunity to meet with Bronwyn Gray, Elaine Simonds, Darryl Cockroft and Tony Gill, all of whom are on the working group to set up NZORD. This was an excellent opportunity to work through some of the issues relating to incorporation, selecting trustees and preparing a case to the Ministry of Health for funding.

February 15 was the time to play Perry Mason - or was it Rumpole of the Bailey - when I took the opportunity to cross-examine the Save Animals From Exploitation group who had just made their submission to the Royal Commission on Genetic Modification. It was frustrating to watch a group that presents itself as a caring group, putting forward arguments that are really part of their wider agenda of preventing all health research on animals. In the course of their presentation they put great emphasis on allegations of abuse of animals in research and farming, in spite of strong animal welfare and animal ethics provisions that exist, and which are monitored by the Society for Prevention of Cruelty to Animals. In cross-examination I was able to draw out the SAFE group on their position on animal rights, and challenge them about their real agenda to give animals equal status with humans. In the course of ducking and diving around these questions, they did at least state that they rejected the position of Peter Singer, one of the gurus of the animal rights movement, who has argued that a laboratory rat has more "value" than a severely brain injured child.

It was a very eye-opening experience dealing with the animal rights group. They have an agenda that confuses animal welfare with animal rights, and in my view they manipulate the genuine concern we all should have for animal welfare, with attempts to halt medical research that will improve both animal and human health. Their witnesses were unable to answer the direct challenge put to them, of the many health benefits that come from laboratory research on animals, and what they would offer instead. Their witnesses shuffled and evaded the questions, but one of their supporters answered in a way that exposed their real agenda. After the session he handed me a note that suggested we should simply "accept our own mortality". They think we should just accept the premature death of affected children and adults, rather than continue the search for treatment or cure of the diseases that will not become treatable without this animal research. Well, I and many other affected families have some news for him and his fellow-travellers, and there is no way we will be agreeing with their narrow view of things.

In researching issues related to the animal rights submission, I was fortunate to make contact with Adrian Morrison from the School of Veterinary Medicine in Philadelphia. He has dedicated much effort to exposing the real agenda of the animal rights fringe, and at some personal cost as a result of their often-violent tactics. Adrian is one of the heroic people who has stood out against their terror tactics and misinformation.

The next presentation was from Greenpeace and it was something of a relief to have one of the main anti-genetic modification groups not actually argue for restrictions on the research or application of GM for human health. This was in contrast to many of the other groups that opposed GM in food, crops, etc, who often also stated opposition to GM in medicine, but without any sound evidence, or even a reasonably plausible hypothesis to back up their position. Some of the groups even stated positions that were counter to the evidence of their own expert witnesses.

Perhaps the position of Greenpeace was influenced by the fact that one of their key witnesses was Professor Traavik of Tromso University in Norway. While opposed to release of GM organisms into the environment at this stage, he was enthusiastic about the use of GM for medical use, and confident of the safety and improved possibilities for this, as new generation GM techniques are developed. I had only a few brief questions of Greenpeace and was able to thank them for sticking to their area of expertise, and avoiding the temptation of straying into the medical research area, as several other groups had done. At the end of the session I was able to speak to Professor Traavik personally and discuss the work of the Tromso research group on our family's rare disease, Mannosidosis. He is quite familiar with this work and the members of the team who did that research, and he spoke with enthusiasm about the possible development of treatment for Mannosidosis and similar storage diseases, using GM techniques. He was of course quite surprised to come to the other end of the earth, and meet a member of a family affected by this very rare disorder that had been so thoroughly researched at his university. How small the world is.

Later in February there was another cross-examination at the Royal Commission. This time it was the Quaker Spiritual Ecology group, followed by the Catholic Bishops' Conference. Both came from a perspective that combined ethics with religion and spirituality. It was refreshing to see the vision and values in the Catholic Bishops' submission leading to a pragmatic position that sought use of GM technology for human health improvement, without any excessive controls. By contrast, there was little common ground to be found with the Quaker group, who did not agree even among themselves about the position that should be adopted.

During this month a couple of articles were also written for the newsletter of Parent to Parent and for Community Moves, the journal of IHC. The end of February brought good news in the form of a donation from the Rehabilitation Welfare Trust of $2,000 to assist with conference travel, thanks to Jenny Noble's work. There was also another opportunity to speak to a local Rotary club, with a pleasant surprise to discover that three of the club members were already familiar with some aspect of Lysosomal diseases.

March 2001

In the first week of March I was able to do another phone hook-up to participate in the Annual Meeting of the International Society for Mannosidosis and Related Diseases. Though small, we continue to make progress and improve our contacts in the medical and research fields. Last month's planning session has also given a good structure and focus to our activities, and though we would like things to progress faster, we are conscious that are activities are moving a number of initiatives forward.

On 9 March, Jenny Noble and I flew to Sydney at the invitation of the Australian MPS Society to take part in a major planning exercise for their Society. The two days of meetings were hosted at Westmead Hospital by Professor David Sillence and Dr Jenny Ault. It was a great opportunity to strengthen connections with our Australian counterparts, and to explore ways we could improve organisation on both sides of the Tasman. We encouraged them to think of the needs of the wider group of Lysosomal diseases, rather than the more limited MPS group they had been till now. In turn, we were keen to learn from their experiences of organising family conferences and support networks, and look at ways we could improve information flows to our mailing list. I was very fortunate to make contact there with Dr Grace David from the Philippines who is doing training in Connective Tissue Dysplasia and storage diseases. She will return to Manila next year to join a small team providing specialist metabolic services to their entire country.

On my return to New Zealand we presented our rebuttal evidence to the Royal Commission. We challenged statements made by the Green Party about the use of trangenic animals in production of recombinant enzymes for human health treatment, and claims that bacteria or yeast could be used as alternative sources of such enzymes. Their claims highlighted the importance of closely monitoring the information put before the Commission, and the need to challenge what was wrong or misleading. The Green's statements seemed to show up the extent that the policy positions of the Green Party on these issues had been captured by the Animal Rights and other fringe groups, and also the faulty research that led to their incorrect conclusions. Expert assistance from Drs Dave Palmer and Mike Eccles helped us correct the information available to the Commission and led to a concession from the spokesperson from the Green Party.

Later that week was the final hearing date of the Commission and our closing submission was presented. Highlights of this included the chance to emphasise the positive aspects of GM for human health, and to reject the negative by identifying the inconsistencies in the statements of several of the anti-GM groups, especially between the evidence of their own expert witnesses, and the group's claims or recommended positions. We were able to highlight the lack of any coherent or evidence based case for restriction on GM use in medical research, and to argue the human right to best possible health care. Our submission concluded with a message of our motivation and our hope:

This month I also spoke to three Rotary Clubs to spread the word about our cause and I was very pleased with the response of the audiences. I good really get to like this public speaking experience. Perhaps there is a politician inside me, trying to get out.

The last day of March saw the completion of two major submissions. A case to the Ministry of Health in support of the establishment and funding of a national genetic/metabolic service, and a separate case to the Ministry for funding of NZORD. Close co-operation with the Paediatric Society, the Genetics Services and the National Testing Centre, enabled us to prepare strong arguments in support of the internal proposal being considered by the Ministry of Health's Purchase Board. We have added to the written case by arranging a meeting with the Minister of Health next month to present her with a copy of this case, plus the proposal for funding of NZORD by the Ministry. Watch this space!

Reflections:

Another six months has passed and the work involved in organising LDNZ and NZORD is certainly the most challenging yet satisfying work I have done in my career. Progress is steady and sure, though at times it would be easy to become impatient with the rate of progress. It is increasingly clear that networking to get to know the key people in support groups, and in policy, clinical and research fields, is an essential part of the process. Enthusiasm and good ideas on their own, are not enough to make things happen. A strong network of people with similar interests and agendas, is a vital component of success, and it takes time to build up these contacts.

Be patient, but be determined. To be continued.......

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