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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.

March 2000 - August 2000. Planning, Publicity, Promotion and Perseverance

March 2000

More networking with Lysosomal Disease contacts. Time in Christchurch after a conference gave me time to meet with Dr Dave Palmer and his research team at Lincoln University, meet the famous Batten sheep and view some of the team's slides through an electron microscope. Seeing the florescent markers on tiny parts of affected brain anatomy, is a sobering lesson about our vulnerability to the least of variations in our genetic makeup.

Rachel and Michael Burke kindly put me up for the night, and over a fine dinner accompanied by fine wine and followed by an excellent single malt, I had the honour to hear the story of this couple and their experiences with two children with Sanfilippo B disease. Isolation, delayed diagnosis and a general lack of knowledge on the part of those who were best placed to know, meant an incredibly tough time for this amazing couple through the 80's and onwards, as they struggled to understand what was happening to Reuben and Joseph. Despite their burden and the loss of Reuben several years ago, Rachel and Michael did early work to set up the NZ MPS Society and have maintained family, careers and community involvement. Their experience, energy and resilience are an inspiration. I salute you both.

An attempt at publicity. Several lengthy conversations with a producer for TVNZ 60 Minutes, raised hopes of a feature on Lysosomal Diseases and NZ's animal models of these diseases. A recently discovered Huntaway dog model for Sanfilippo disease, plus the Batten sheep, and Mannosidosis cattle, were promoted as the hook to get their interest. So close, but so far away, as the interest was not held. Next time!!

Australian MPS Society Conference - Coffs Harbour. A wonderful opportunity for our family to catch up with a large number of Australian families and clinicians, plus the Noble family from NZ and two NZ clinicians who also attended. More good links and more knowledge. The trial of a newborn screening programme and the progress on development of enzyme replacement therapies for LSD's, are the key messages from this conference. Progress is steady but slow, and there is much yet to be done.

April 2000

As a result of some negotiating and planning, Dr Ed Wraith from Manchester, who is one of the leading clinical specialists in Lysosomal diseases, made a whistle-stop visit to Wellington and Auckland, on 3 and 4 April, following his attendance at the Australian Conference. At both centres he gave a lecture to a couple of dozen medical people about how to give the best care for LSD patients, and did some individual case reviews with a number of paediatricians. This is another bit of progress towards ensuring there is a wider base of knowledge and experience in the medical community, to appropriately care for these conditions. Thanks to Genzyme for sponsoring his trip.

Good news in receiving $2,000 from the Grand Hotel is tempered by a letter from the Lottery Welfare Board. It's another message of "too few, too small, too hard, too bad". The frequency of such messages was one of the reasons for writing this month to all rare disease groups promoting the idea of a New Zealand wide umbrella organisation for all rare disease support groups. If we are to get the attention we need in improving diagnosis and clinical care, and increase the research effort to find treatment and cure for rare diseases, we need a stronger and more co-ordinated voice. A good number of quick and positive responses gave more energy to this idea. Linda McIver of the Tuberous Sclerosis society gave valuable assistance to Judith and I to get planning under way for a September conference.

Karyn Ammundsen offered ideas for publicity and catching media interest, and the month was wound up with completion and registration of the trust Deed for LDNZ.

May 2000

We now have two major tasks under way - running LDNZ and planning for our rare diseases conference. Hilary Heath-Caldwell, a manager with IHC, offers her assistance and our team of four got cracking with the organisational tasks involved. Support from Commissioner for Children, Roger McClay with the programme printing costs, was quickly followed by financial support from IHC and JR McKenzie Trust. Genzyme Australasia kicked in with assistance to bring keynote speaker, Professor David Sillence, from Sydney for our conference. We are also pleased with positive responses from invited speakers.

On 13 May I flew out to Baltimore for the start of a lobbying and fact-finding trip. My trip had a number of key objectives:

• To meet fellow board members of the International Society for Mannosidosis and Related Diseases to discuss strategic goals generally, and fundraising strategies in particular
• To assist the President of ISMRD with networking to build support for the organisation and its objectives
• To meet with key officials at the National Institutes of Health to discuss funding of rare disease research generally, and also to pursue a special scientific workshop on the Oligosaccharide group of disorders supported by ISMRD
• To network with MPS society and Lysosomal Storage Disease reps from various countries to build international contacts for all LSD's, and also to find additional family contacts within the Oligosaccharide disease group
• To learn more about the state of research on LSD conditions
• To gain information relevant to the establishment of a NZ Organisation for Rare Diseases
• To discuss with key research, pharmaceutical and family contacts, the concept of an international campaign for improved funding for rare disease research

The trip was a great success in gaining more knowledge of lysosomal diseases and the work that is under way to understand and control them. It was also a great opportunity to discuss key issues relating to research, funding, clinical trials and ethics, with a range of people from around the world, and make some important new contacts. The best outcome was an agreement in principle for a special NIH workshop on the Oligosaccharide group of diseases. This was obtained when Paul Murphy (President of the International Society for Mannosidosis and Related Diseases) and I, in my capacity as a board member of that society, visited the National Institutes of Health in Maryland.

Welcome home John - greeted on my return at the end of the month with another Dear John letter. The Angus Cattle Breeders Association are unable to help us in our mission, but it is comforting that they wish us well.

June 2000

The second day of June marked my last day of employment at Wellink Trust where I have been involved for six years in the management of community support for people with mental health disabilities. The time needed to do a respectable job for LDNZ and in planning for our rare diseases organisation, does not allow enough time for a full time job as well. Something has got to go. LDNZ and NZORD (the New Zealand Organisation for Rare Disorders) will get top priority for the next year or two. There are some things in life more important than money, though I have some occasional contract work to keep the wolf from the door.

Good news on the funding front. Despite some more rejections, we have managed to score $1000 from the Community Trust of Wellington and $5000 from the Springhill and Frimley Foundation, to help LDNZ achieve its goals. The end of our financial year saw us with some significant results checked off against the things we set out to do, as well as a modest surplus in the bank. Things could be worse.

Good luck too with efforts at publicity. Two local weekly papers, the Hutt News and the Contact, both ran features this month on our work. They wanted more of a human interest than I preferred, but to get the story in it was necessary to accept a strong emphasis on our experiences with Timothy and Hollie and Mannosidosis. However, information about LDNZ and the formation of NZORD did manage to come through, and later feedback suggests a good number of the 300,000 people in the circulation area, had read it.

Planning for the NZORD conference was given a boost in June. The National Director of Parent to Parent, Shirley Wass, offered to help with the registration and administration for the conference. This gave us efficient and helpful support that was a blessing for us and considerably lightened the load.

July 2000

This month saw the opportunity for a slightly different perspective on things. I was invited to take part in a steering group to support the planning of a new District Health Board for Wellington City, Porirua City and part of the Kapiti Coast area. This new structure for delivery of health services, and the associated planning and prioritising, will give more opportunity for local input, and I'm keen to support it for the overall benefits for all, as well as the opportunity to get rare diseases onto the agenda. There was also a chance to assist with a review of the planned NZ Health Strategy from a disability perspective.

Our website continues to attract enquiries from within NZ and around the world, and information is supplied to a good number. Most enquiries are from families, followed by students and teachers seeking information about lysosomal or other rare diseases for school projects, or to assist with teaching skills.

On the last day of the month I filed an application for a Winston Churchill Memorial Trust fellowship to visit North America and several Asian countries to build up contacts with organisations and clinicians involved with lysosomal and other rare diseases. My role on the Board of the International Society for Mannosidosis and related Diseases is that of Asia-Pacific Co-ordinator, and I'm keen to fill that role well and also make good contacts with other rare disease organisations to ensure NZORD's focus and activities are well oriented.

August 2000

Early August saw the start of the scoping meetings to define issues for the Royal Commission on Genetic Modification. Over several days there was an excellent opportunity to meet a range of people from all sides of the argument, and have some excellent discussion about the pros and cons of genetic modification. The issues thrown up by this debate have a direct bearing on whether research into our conditions will be permitted to continue, and whether any therapies produced for them will be available in NZ. It is very important that the potential problems or emotions relating to genetic modification of food, do not spill over into restrictions on research into medicines for these and other genetic and metabolic conditions. To protect our interests we have registered with the Royal Commission to gain "interested person" status so we can make a submission in person before the Commission, and cross-examine witnesses.

The sensitive nature of the Genetic Modification debate was highlighted during a forum on disability sector leadership held this month in Auckland. I was surprising to see how many usually well-informed people were assuming it had only negative implications for people with disabilities. Talk of eugenics and devaluing people with disabilities, highlighted the negative assumptions. Does fear of the new always lead to negative assumptions, and always blind people to the benefits? There is clearly a lot of work to do, to show those who would gain the most from it, what the benefits will actually be, and how negative issues can be avoided or controlled.

Don't ever let a chance go by. An invitation to a Parliamentary dinner for representatives of Asia-Pacific Socialist International, was a great opportunity to hand out my cards for LDNZ and for the International Society for Mannosidosis and Related Diseases, to more than a dozen delegates from various countries from Mongolia through to Malaysia and Bangladesh to Chile. While many of them will have problems more pressing than rare diseases, the opportunity is there for countries like NZ and Australia to provide assistance with testing, screening and treatment issues. We must continually look beyond our own borders not only for what we can learn, but also for what we can offer.

A meeting with Professor Diana Hill, who chairs the Marsden Fund for science research, was an opportunity to learn more about NZ's contribution of animal models to health research, and to get more of an idea of the funding mechanisms and approval processes.

August also saw a flurry of emails and letters attempting to identify patients affected by Fabry disease, one of our Lysosomal disorders. Clinical trials are at advanced stages and there is great promise of an enzyme replacement therapy being available soon. It seems there have been only two cases diagnosed in NZ and confirmed by testing. There may well be more, with the real incidence hidden by the unusual way that Fabry presents itself as kidney problems, heart problems and a dermatological condition. Testing for Lysosomal diseases was often not carried out in the past, as no treatment was available. The pending arrival of this treatment, and others waiting in the wings, will provide some challenges for patients, clinicians and funders.

In August we also managed to squeeze in a newsletter to our mailing LDNZ list (check it out on the Newsletters page) plus a follow up to the survey of Paediatricians.

This month I also took up a Ministerial appointment to the Capital & Coast District Health Board, and I look forward to the challenge of helping to make health gains for the population in the district.

Planning for the first conference for the NZ Organisation for Rare Disorders is well in hand and the assistance of Parent to Parent has been invaluable in ensuring efficient organisation.

Reflections:

Six months of hard graft are over, with some clear progress identifiable at the end of it all. Having a plan, and working away at it in manageable chunks is essential to a successful outcome. A dose of realism in working within your resources, and the constraints of time and energy, also helps to avoid disappointments. But it also important to have a vision that tests the boundaries others might set. Keep focused on the key objectives, keep your allies around you and well informed, and go for it.

To be continued........

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