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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.

January 2002 - April 2003

A change of style and some real progress.

By now the style of reporting needs to change, I think. If you have been following this web-log for the past few years you will realise by now that some things happen slowly and surely, like water on a rock, while other opportunities seem to pop up almost at random and beg to be seized.

My earlier reports of day to day meetings and activities will have value in indicating the detailed work and the long term commitment that is needed to establish networks and make progress. From now on I will concentrate on reporting results, outcomes and other critical initiatives, and hope to show that the hard graft is starting to pay off with specific support for our mission becoming available.

In this 16 month period there were several successes:

• The Ministry of Health gave its first grant of $20,000 for NZORD’s work. The meeting last December with the Director-General obviously paid off and overcame the reluctance of other officials to support us. This was the first of several one-off grants given over the next couple of years and they considerably improved our ability to make progress, as well as trigger more grants from other sources.
• A grant of $30,000 was received from the Todd Foundation and was a crucial factor in the development and successful launch of the NZORD website at www.nzord.org.nz Our website was the first tangible thing that the public at large could see of our organisation, beyond any impact we had generated in the media. It was great to make a transition from an organisation whose impact was largely “internal” to the health and disability sector, to having a public presence that enabled people to learn more about any rare disorders they may be affected by, and help them make contacts with other patients and families around the country, or around the world.
• An important milestone to be noted, though not of our making, was reached when an additional clinical geneticist, Dr Alexa Kidd, was appointed to the Central Regional Genetic Services. Genetic expertise in NZ was further boosted with news that Professor Stephen Robertson was to return to NZ and take up a combined research and clinical role at Otago.
• I was invited onto a Ministerial advisory committee on genetic testing and took part in its deliberations and the drafting of a report which was submitted to the Minister for her consideration. Results of that will take a while but if acted upon will lead to strengthening of genetic services and laboratory testing, while improving consent and patient protections.
• Links were established with AgResearch scientists who are working on a transgenics programme to produce therapeutic proteins in cows’ milk. In the post-Royal Commission period this was a sensitive public issue and taking the opportunity to make a submission to the Environmental Risk Management Authority on the AgResearch application was important to demonstrate support for the project, and also to counter some of the appallingly ignorant but emotionally charged submissions from opponents. No doubt our support helped achieve the positive response from ERMA.
• During this time the Board of LDNZ decided to hold the first ever Lysosomal Diseases conference for New Zealand. Thanks to the extraordinary efforts of Jenny Noble in planning and fundraising for this event, plus generous grants from the Paul Newman Foundation, and other Trusts, we would be assured of a very successful conference.
• Some time after the ERMA decision I approached AgResearch about the prospects of aiming to produce a lysosomal enzyme in the new transgenic herd they had received approval for. There was a lot of discussion, exchange of emails, and meetings on this, a visit to the research facility at Ruakura to meet the scientists, and a meeting with key Lysosomal researchers at Massey University to discuss the idea. This work eventually culminated in an announcement at the LDNZ conference, later in 2003, that AgResearch would include acid-maltase, the deficient enzyme in Pompe disease, as one of the protein targets in the transgenic herd development.
• Despite a five month period without secure income since the end of my District Health Board appointment, I was fortunate to receive contract income from IHC for some research on the implications of genetic technology for people with intellectual disability, and to write up work to date on the role of ISMRD, our international group for Oligosaccharide disorders, in building collaborative partnerships with researchers and policy agencies. An unexpected but very welcome grant from the Orangi Kaupapa Trust also helped keep the wolf from the door till the Ministry of Health money allowed a modest income.
• A number of key issues arose concerning access to pharmaceutical treatment, and the reluctance of Pharmac, the drug purchasing agency, to approve access to these therapies. I worked with the relevant support groups to assess the situation and made some submissions or commentary regarding access to Beta-interferon for people with Multiple Sclerosis, Glivec for those with Chronic Myeloid Leukaemia, and continued subsidy for gluten-free foods for those with Coeliac disease. Details of submissions and comments on these cases can be found in the NZORD archive at this link. All three issues were resolved to the advantage of the patient groups, and this clearly demonstrates the value of co-operative efforts on such matters. By contrast, these successes accentuated for me the continuing problems faced by smaller groups with major problems of access to therapies, but no resources or political clout to get their issues addressed. There is clearly a need for strategic as well as tactical responses to drug funding issues, and these experiences helped sow the seeds for a plan to address the bigger picture on access to therapies.

Then there was the not-so-good news:

• Prior to the Ministry of Health’s first grant I visited the Head Offices of the biggest 5 pharmaceutical companies in NZ to explain NZORD’s mission and what we are doing to achieve it. I requested financial support from them but received the same response from all of them. They all started “Dear John”. Need I say more?
• I had become aware of significant discussion going on in the disability community, mainly among academics and more-able-disabled activists, that sought to deny the benefits of genetic technology and regarded prevention measures as “eugenics”. Groups like Disabled Persons International and Inclusion International, were pushing hard in forums like UNESCO and the International Bioethics Committee for strong restrictions on such measures. Knowing that the vast majority of parents of seriously disabled children, and probably a significant majority of disabled people as well, see prevention, treatment and cure as very desirable goals, it was clear that debate was needed to challenge the position of the academics and activists. Especially galling to see, was the removal of a reasonably mainstream policy from the website of Inclusion International (a policy that emphasised choice, quality information, respect for disabled people and non-coercion) with the leaders of that organisation then claiming to speak on behalf of millions of disabled people and their families when they argued strongly against prevention measures at the UN special committee considering a convention on the rights of disabled people. Observing the abuse of process and capture of policy by those with a narrow and selfish agenda (let alone one that is ill-defined and ethically suspect), simply meant another task to add to my personal list of topics to crusade on, and another topic for conference presentations and publications.

Other networks:

• This certainly was the time for meetings and conferences and early in 2002 and again in 2003 I was able to attend meetings of the ISMRD Board in Baltimore, and combine those trips with meeting other groups and researchers on the US. One of the two visits to Washington resulted in a visit with Paul Murphy to the Office of Rare Disease to discuss the planned special conference on our group of diseases. It was in danger of falling off the agenda and the visit and subsequent follow-ups finally got it all back on track - a great relief, and a great save.
• Attendances at various Lysosomal meetings kept up the links with others around the world, and the Queenstown Molecular Biology conference was a great opportunity to meet many prominent New Zealand researchers. These contacts always provide useful information and often lead to valuable allies in later work.
• Links with NZ neurological support groups were maintained through meetings of the Neurological Alliance. NZORD and LDNZ together were able to meet Ministry of Health officials and members of the Paediatric Society to discuss problems of transition to adult services for those with chronic and complex needs. The outcome was a joint position statement with the Paediatric Society, and an excellent example of how patient advocacy groups are able to positively influence things when they get to the table.
• Especially significant was attendance at the Inclusion International conference in November 2002 In Melbourne, where I was able to give a major presentation on the benefits of genome knowledge and biotechnology for people with disability and their families, and begin the challenge to some of the narrow political agendas among the political activists in the disability sector. My concerns at their lack of understanding of some of the issues was confirmed when one presenter, horrified at what genetics offered us, showed a website offering the “perfect child” as proof of the depths we would be dragged into. Had she looked closer she would have seen the site is a spoof site that also offers male pregnancy and other totally off-the-wall services.
• Challenges to the narrow agenda of the disability academics and activists was further discussed in presentations I gave at the NZ branch AGM of the Human Genetics Society, and to a group of 80 veterinary and biology students while visiting the University of Pennsylvania. This experience would fit me well for later presentations to other larger conferences on the same topic, and sets a solid foundation for future submissions to the Health Research Council, National Ethics Committee, and others, about how such matters are incorporated in health and research policy.
• It was also time to decide to let some tasks go, and my work with the Standards and Monitoring Services Trust, and my roles on the local branch committee and NZ Council of IHC came to an end, though I remain on the IHC Advocacy Advisory Committee. These changes were an important part of maintaining focus on priority roles where maximum impact is possible, and knowing when it is time to move on. Accepting an invitation to rejoin the Disability Support Advisory Committee of the District Health Board was the flip side of this, and one I willingly took up.
• At the end of this period there was an invitation from Biovision Europe to attend a conference in Lyon, France, as part of a major event to involve science, industry and society in discussions about biotechnology. This was a perfect opportunity to meet with Genetic and Rare Disease support groups from 15 other countries to start the formation of an International Genetic Alliance. Having all costs met by the conference organisers was a critical factor in getting there, and the opportunity to network with these groups set a solid foundation for many later collaborations and sharing of information, especially with the Australian state organisations for rare and genetic diseases.

Meanwhile back at the ranch:

• Having to admit defeat on our grand plan for a home of his own for Timothy was quite a blow. Finding suitable people to take on a live-in support role proved tougher than expected, though we came frustratingly close. We will all have to settle for him living in a group home with other disabled adults with whom he may have little in common, and regular turnover of rostered staff preventing quality care and continuity of care. The best I could make of this exercise was another conference presentation highlighting the deficiencies of the group home model, to present to a number of key people and organisations over the coming years.
• Towards the end of 2002 we had to deal with another episode of psychosis for Timothy. Not as severe as the first episode a year or more ago, but a long lasting problem that led to depression and a long slow process and careful medication management to come through. Of all the things we have had to deal with regarding Timothy and Hollie’s health, mental health problems are surely the most stressful and difficult to cope with. There was an opportunity to share this experience with Dr Dag Malm, also a Mannosidosis parent, and to provide commentary and language editing for a paper he is writing on the approximately 1 in 3 adults with this condition who develop mental health problems. This will enable other cases to be better understood and better managed, and it was important to work to get something positive out of all Tim had been through.
• Judith’s experience of Polio as a child has come back at her in the form of post-polio syndrome and is having a significant impact on her independence and physical capabilities. Now we could really do without this.

Reflections:

For LDNZ it is hard slog and continuing struggle, though the focus on our first conference next year is proving a boost to fundraising and to improving contacts. During this time LDNZ supported a number of families attending their first conferences overseas and it was very satisfying to see the growth in their confidence as they came to better understand the causes, symptoms and management of their family’s condition. Involvement with the Paediatric Society in developing a position statement on transition to adult care, was a boost to the level of input our advocacy organisation is able to have. It is a good example of how we seem to be building our activities to another level, and having more impact.

For NZORD there has definitely been a quantum leap in activity, resources and impact. There has been a turning point - we spend less time talking about the things we would like to do, and more time actually doing them. There is also less time introducing our organisation and explaining our mission, as more people now say “yes, I’ve heard of your organisation and what you do.”

It is sobering to realise that it is now nearly six years since our first tentative enquiries into the world of rare diseases, and that it has taken almost four years since we first devised a plan to develop both the Lysosomal disease support group, and NZORD, as the umbrella group for rare and genetic diseases in New Zealand, to a point where they both have substance, resources and are able to count more regular achievements. There is no doubt that the amount of work needed to build to this level is quite significant, and that availability of resources is also a very critical factor that has slowed progress.

Another interesting observation relating to funding received is that the euphoria of receiving grants is quickly tempered by the realisation that one-off grants have an expiry date, and there is a quick transition from getting the money, to looking at the date it will run out. Getting sustainable funds must become a high priority.

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