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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.

April 2001 - December 2001

A Roller-coaster Ride - Progress, Setbacks, Progress.

April 2001

This month saw a significant step forward when a delegation to the Minister of Health, Hon Annette King, led to a favourable response to our call to extend the Specialist Metabolic Service. We were very fortunate that Dr Callum Wilson wanted to return to New Zealand to work after completing his specialist training in London, and the Minister's response indicated very good prospects for securing his position, for the obvious benefit of patients affected by metabolic diseases. His knowledge will be a great asset to other medical staff too, especially paediatricians.

Gathering natural history information on Mannosidosis took a step forward too, as we put together shared experiences with four other families around the world who'd had significant problems with orthopaedic complications after surgery. In the absence of any published literature on such problems (in fact one source suggested "no known complications with the skeleton") it was a bit of a dilemma deciding what to say to other families. How should non-professionals respond in such situations? The potential for giving incorrect or misleading information is a big concern for professionals and support groups. In the end a basic fact sheet outlining the common problems was sent out to other families as precautionary advice, with the suggestion they discuss the issue with their specialist before any surgery is contemplated. Some years later we were pleased to note that we'd not heard of similar complications in any patients we'd discussed this information with.

We took part in an ISMRD fundraising initiative with a garage sale of goods at our home, coinciding with similar events in 4 other cities around the world, thus giving us the world's "largest" garage sale. Our modest $758 added to the proceeds from the other sales to raise just over US$2,000 for our international organisation. It's a start, but at this rate it will be a long haul.

A great honour was an invitation to do the language proof-reading of a GeneClinics review on Alpha-Mannosidosis by Norwegian doctor and Mannosidosis parent, Dag Malm. The finished review is surely the best authoritative information on this disease and it was great to be a part of making this a reality. You can read it at http://www.geneclinics.org/query?dz=a-mannosidosis

The New Zealand Disability Strategy was launched at Parliament and it was a significant moment to note the new policy initiatives that were being put in place. None too soon for my liking, but some niggling worry that the strong emphasis on the "social construct" of disability, might detract from the obvious needs of those affected by disease-driven disability, such as the lysosomal diseases, and many other rare diseases. Their need for an integrated and holistic view of their health and disability issues, is not provided for in this strategy.

May 2001

This month brought a mixture of good and bad things:

• NZORD funding application rejected by the Disability Directorate in the Health Ministry.
• Sign off on a mediated settlement with the Hutt City Council over a proposed District Plan change I'd successfully led opposition to, with the help of other agencies. There will now be no restriction on housing options for disabled people in our city, and a good precedent is set for other parts of the country.
• The funding for the Specialist Metabolic service is confirmed.
• Jenny Noble and I completed a full day planning session for LDNZ, to chart future activities.
• I received advice that I would be honoured by the Genetic Alliance at their People's Genome Celebration in Washington next month, and receive the Alliance Founders' Art of Advocacy Award, for my work in developing patient advocacy groups and presenting patient and family perspectives to the Royal Commission. What a buzz. Could I keep the secret for the next month?

June 2001

The month started well with the first formal meeting of the NZORD Board of Trustees getting the organisation off to a robust start. It is apparent though, that despite excellent people to form the Board, progress will be dependent on financial resources, and they are proving tough to find.

A few days later Judith and I flew to Washington again to take part in the People's Genome Celebration. The meeting itself was an awesome event with the opportunity to hear addresses from Francis Collins and Sir John Sulston, the two heads of the US and British arms of the Human Genome Project, and to make contact with a huge number of support group leaders.

The highlight for me was the evening function at the Smithsonian Institute, when the Founders of the Genetic Alliance presented me with the Art of Advocacy Award, presented jointly to me and to Augusto Odone, founder of the Meyelin Project and father of Lorenzo, the subject of the movie Lorenzo's Oil. This was a very special moment and a very great honour.

An interesting co-incidence was the presence at that function of David Robinson, who I first met in about 1972 when we were both involved in the Newtown Community Centre adventure playground and food co-op. Our paths had crossed and uncrossed at various times since then. Who could have guessed that he'd be in Washington at this time and able to join us at the presentation. After the event we shared some fine red wines as we discussed the dilemmas of engaging the anti-GE activist community in an informed debate about genetics, GM, and an appropriate policy response.

Other meetings while in Washington included the ISMRD Board and discussing the proposed scientific workshop on Oligosaccharide diseases with Steve Groft of the Office of Rare Diseases. We then flew on to Boston where we had a very informative meeting with several leading scientists and managers at Transkaryotic Therapies, a biotechnology company involved in the development of therapies for lysosomal diseases. This was a great opportunity to discuss progress and challenges for therapy, as well as discuss support group organisation and their relationships with the biopharmaceutical industry. TKT have generously given US$1 Million to promote clinical training fellowship in Lysosomal diseases, a very significant move forward in developing expertise to manage and treat these diseases.

The next meeting was with Jayne Gershkowitz of the National Tay-Sachs and Allied Diseases Association, and this was a great opportunity to learn about the carrier testing programme set up and driven by their organisation. Learning about their approach to prevention added a significant new dimension to my view of Lysosomal disease issues.

Next stop was Danbury, Connecticutt where we met the President and founder of NORD, Abbey Meyers and some of her key staff. Another interesting and very helpful perspective on development, political and practical issues for rare disease organisations, from one who has worked at it for a couple of decades now.

On our return via Washington, a stopover for plane connections gave us the chance for a good look at the Washington Mall, Congress, Lincoln Memorial and the White House. Some brief relaxation there was welcome, spoilt only by the discovery on our return, that the auto-focus on the camera was faulty and all photos were lost. Our appreciation goes to IHC, NZORD, TKT, and Gillian and Roderick Deane for generous support to make this trip.

June was rounded off with a couple of articles written for a Commissioner for Children special report on Children's Health, and NZ Doctor magazine, input to IHC consultation on a review of their philosophy and policy document (I have unease about how they will recognise the important role of families in this process), circulating notes to a variety of Lysosomal groups about the development of an International Lysosomal Diseases Alliance, and working with the Child Health Research Foundation on a fundraising initiative for Batten disease.

July 2001

Another busy month, but was there ever one that wasn't? Here's a summary of key activities and news:

• Chasing the Ministry of Health for funds for NZORD - still without success.
• An exciting discovery by Professor Bob Jolly of a natural animal model of Sanfillipo disease, one of the more severe lysosomal diseases. Finding this in a large animal offers great research opportunities.
• Discussing access to growth hormone treatment for Prader-Willi patients with Linda Thornton of the Prader-Willi Association and linking her to the IHC advocacy team to pursue the problems they are having with Pharmac.
• Making first contact with the Genetics Support Network of Victoria - an important step in the plan for a strong Australasian network of genetic and rare disease umbrella groups.
• Making more submissions on Ministry of Health and National Health Committee consultations on planned strategies.
• First contact with Novazyme, another biotech company developing innovative technology to enhance enzyme replacement therapy for lysosomal diseases.
• Attending the HGSA conference in Cairns, thanks to support from TKT, and joining a meeting of Fabry patients in Sydney on the way there.
• Sad to note that Darryl Woods, who worked with TKT in New Zealand, and who had a very good knowledge of the process for registering new medicines and understanding the health system, died suddenly. It is a hard job finding the right people and making good connections with them to pursue our objectives. It is very sad when they are lost to us, especially when they are personally as nice as Darryl.
• Significant input into developing the strategic plans for disability issues for both Capital & Coast and Hutt Valley, District Health Boards, plus ongoing work on the development of a new regional hospital at Newtown.
• Rotary club addresses make it into double figures this month.

At the end of the month the Report of the Royal Commission on Genetic Modification was released and the media was full of comments from all sides. We can be very satisfied from the perspective of LDNZ and NZORD, that our submissions appear to have had some influence and we are quoted many times in the report. The outcome is very satisfactory to us. Of particular note is the reference to our rebuttal evidence and the acceptance of our arguments by the Royal Commission. This is a particularly significant recognition of our efforts, I believe, though this may not be so obvious to all observers. The result of it, though, is that the Green's argument for "keeping GM/GE in the lab" is shot to pieces, and the prospects of any significant restriction on innovative production methods like transgenics, looks exceedingly slim.

August 2001

This month I continued my series of briefing of officials in the Ministry of Health and the National Health Committee about Lysosomal diseases and NZORD, with a view to establishing a funding stream for NZORD's work. We don't expect such support for LDNZ. As a small support group, we expect that LDNZ, like many similar groups, will need to raise its modest year to year requirements from among its own network and other charitable sources. That can hardly be a realistic function of a central agency like the Ministry, with a huge number of such groups in existence. But NZORD's role is one we strongly believe deserves central government support, because of the important information, representational and co-ordinating roles it plays. Getting that message through is hard work though.

The GM/GE issue bubbled on and when observing a meeting of anti-GE activists at the Thistle Hall, I was surprisingly invited by the Chairperson to speak and give my perspective. The audience response was interesting - polite and quiet - partly I'm sure because what I was saying was new to them and a significant challenge to their view of things, and partly because mine was a message they did not know how to respond to. It did not fit their paradigm of a blind science, big business, global industry conspiracy. Later that month the government signalled an extension to the moratorium on commercial release of genetically modified organisms, while plans for regulation and consultation are put in place.

I had the pleasure of meeting Peter Snell, NZ gold medallist at the Rome Olympics, and a mile record breaker, when he attended a meeting as patron of Parkinsons New Zealand - a once in a lifetime opportunity to meet a great man and to discuss briefly our common interest in rare diseases.

Wearing my District health Board hat I was able to meet with Ministry of Health and DHB officials to discuss the gaps in services and in policy for those with complex and intertwined health and disability issues. Concern is noted about the risk to this group of excessive separation of disability policy or funding from health. I'm not sure this will be picked up and acted on quickly, but it is on the agenda.

Sadly, this month brought news of another death among the Lysosomal networks I have made. Vaughan Glasson, a young adult living in Australia and affected by the milder form of Hunter disease, passed away after a shortened but full and active life. The sadness at his passing reinforces the need for progress towards therapy for these awful diseases.

On the home front, we have made some progress in working towards a new home for ourselves, and our plans to set Timothy up in our current home, where we hope to set in place an innovative living arrangement, different from the typical living arrangement for adults with intellectual disability. If all goes well he will rent the home from us, be the prime resident there, and have a sub-tenancy arrangement with the ideal couple, family or group of young people who will share that house with him, and meet his support needs. We are working closely with IHC to put this in place. A bit of a gamble, but the best breakthrough in this endeavour came when we found the ideal home for us to move to. Good location, affordable (just), and easily convertible to a fully accessible home. An offer has been made - the first domino is about to fall - watch this space.

September 2001

Sometimes it just seems like more of the same, and then sometimes out of the blue there is a significant advance. In this month I worked away at the usual series of activities meetings to build contacts and make progress:

• Meeting the Medical Association's Executive Director.
• Joining the People First march to Parliament to call for faster action to close Kimberley, one of our last big institutions.
• Attending an IHC President's forum.
• Joining Life Science Network and Health Ministry consultations on the GM/GE moratorium extension.
• Meeting the Minister for Disability Issues, Ruth Dyson, with the Chair and CEO of Capital & Coast DHB, to discuss how the DHB is progressing with its new responsibilities.
• A detailed phone discussion with patient affairs representatives at Novazyme pharmaceuticals in the US, to discuss Lysosomal disease issues and support group organisation.
• Campaigning for election to the District Health Board.
• Another phone conference with the ISMRD Board to plan activities and fundraising.
• Addressing two support group meetings - the SCIPAR Trust and Retina NZ.
• Discussing support for the Gaucher Association with their Chairman.
• Writing more emails to discuss an international Lysosomal disease organisation with interested people.

And then the really good news. Something we had a hand in over two years ago - discussing and promoting a co-operative research project on Mannosidosis - got the green light for funding from the European Union rare disease fund, to the tune of Euro1.5 million. What a great thrill. The Euraman consortium will be under way soon. Suddenly all the moments of frustration and difficulty have vanished in an instant. It was all worth it, we have done it. But it begs the obvious question - will it take an average of two years before any major proposal or idea we bring up, gets some acceptance by the policy makers? A scary thought.

October 2001

After the good month of September, I suppose it was to be expected that October would bring some not so good news, and it came in my defeat in the election for the District Health Board. It carried with it some significant lessons. In politics, your work and dedication probably count for nothing unless you are also well known, and if you are clear and open about your principles and approach to the job, you risk defeat by those with more obscure or populist approaches. I stood by the stance of maximising health benefits from biotechnology, and probably lost votes when this was a sensitive political issue. I also advocated amalgamation of the Capital & Coast and Hutt Valley District Health Boards, and that may not have won any favours either. By contrast, the successful candidate had a father much more well-known than mine, and made vague references to alternative medicines. The students and new-agers in the Aro Valley, and those who remembered his dad, gave him the seat by about 150 votes. How frustrating. If I ever stand again I will know better.

But after feeling sorry for myself for a day or two, I climbed back into it all and carried on with meeting the Arthritis Foundation, the College of GPs and the Nurses Organisation, Mike Gourley who is a leader in the disability community, and arranged to introduce Drs Callum Wilson and Dianne Webster of the Metabolic Service, to Peter Moodie, the Medical Director of Pharmac. This last meeting was very important in relation to Pharmac's role in drug funding, and the Metabolic Service's role in treating lysosomal diseases.

A trip to Auckland to a meeting of the Neurological Alliance gave me a chance to also meet with the Health Research Council and Maureen Craven and staff at the Parent and Family Resources Centre, and the network formed by the member groups of the Neurological Alliance looks a very promising resource.

Through all of this, as in most months, there was continued contact from individuals seeking information from NZORD, and sharing with me some of their unique stories. I am continually amazed, humbled and inspired by what I hear from them.

Back at the ranch……..

We start what we fear will be a long and complex process getting new wheelchairs for Timothy and Hollie, such are the frustrations in the system.

We also struggle to cope with the complexities of psychosis that has developed suddenly in Timothy. This is a problem that is known to occur in about 1 in 3 adults with Mannosidosis, and our shift from ignorance to knowledge in recent years has helped us be prepared for this possibility, but as many will know, the reality of mental disorder can be one of the most traumatic things for both patient and family to deal with.

In addition there are continuing problems with Hollie's health and we are frustrated in trying to get appropriate professional attention to significant intestinal problems she has. This also seems to be an issue connected to her underlying genetic disorder.

Add to this the mixture of excitement and stress at moving home, and the joys of a bathroom where the shower is not useable for five days…. A difficult month.

November 2001

November was memorable for several important things:

• The formal opening of the new Specialist metabolic Service in Auckland.
• The IHC annual meeting where I pushed hard, but unsuccessfully, for the role of families to be more centrally recognised in the philosophy document.
• Raising with the Health and Disability Commissioner's Office, in my role as Chairperson of the Personal Advocacy Trust, the need for more organised systems of ongoing advocacy for intellectually disabled people whose families are not around to protect their interests.
• Getting the audit of LDNZ's finances organised.
• Participating in a summit on Genetic modification along with policy and research people.
• Attending an excellent function at Government House organised by the DEBRA support group.
• Discovering there is another Alpha-Mannosidosis family in New Zealand, and waiting with anticipation to hear from them (we are not alone).
• Wrapping up the disability content of the strategic plan for the District Health Board.
• Responding to the call for input on public health strategy by challenging the Ministry to get a better focus on its approach to genetics in public health policy.
• The commencement of a clinical review of patients with Marateoux-Lamy (one of the Lysosomal diseases) at the Adelaide Hospital and Lysosomal Laboratory. Another significant advance towards therapy.

But November was especially memorable for two things:

1. The comment at the GM summit by the former Commissioner, Dr Jean Fleming, that "Mr Forman's group had an enormous influence on the Royal Commission". That felt so good.
2. The excited message from Jenny Noble that "Sarah walked 8 steps without crutches" as the innovative treatment with Pamidronate banished the pain and improved bone condition for both her children. See the full story on our family stories page.

We are also busy advertising and meeting people to fit with our plans for Tim's new living arrangements.

December 2001

As we wound down towards the Christmas break I met with Genzyme representatives Ros Bates and David Lewis while they were in Wellington, attended the Neurological Alliance AGM, discussed with the Aid section of our Foreign Affairs Ministry the prospects of funds to extend newborn screening into the Pacific nations, and very gratefully received for LDNZ US$1,500 from TKT for our organisations day to day operations.

The down side of the month was the end of my role with the DHB and the modest income that came with it. The upside of that is that instead of working half time for nothing for NZORD and all the related causes, I can now devote my energy to these matters full time, with Judith's gracious tolerance of my lack of income, and her generosity in having me as her "kept man" around the house.

The opportunity of the month came when my persistent visits and calls to Ministry officials about NZORD's mission and purpose, led to a meeting with the Director General of Health, Dr Karen Poutasi, on the last working day before Christmas. I realised I had to make an impression in a very brief time, so I simply outlined several examples of families who'd had significant improvements to health outcomes and knowledge of the condition they were dealing with, as a result of our efforts to connect them with the relevant expertise that was previously not available to them. Will the concept of expert families and expert patients interest the Director General?

Lessons learned…..

If your condition is rare and obscure, it will not carry political clout that will precipitate resource allocation. Policy agencies will be polite and considerate, but not motivated to give much practical help. Many of them will not have a world view that counts your issues as significant to warrant a fair share of resources, even when the neglected "common" interest of rare disorders is considered. A lot of hard work and persistence is required, as is the need to be willing to make some personal sacrifice.

I ended the month, and the year, with mixed feelings of achievement, frustration and eager anticipation. What would the coming year bring?

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