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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.

November 1999 - February 2000.

Policy issues and funding applications

November 1
Newsletter sent to all on our mailing list advising of Australian MPS Society Conference in Sydney, 30 March to 2 April 2000. First update of website posted.

November 15
Met with David Lewis and Charles Adderley of Genzyme, the Pharmaceutical company that produces Cerezyme, the enzyme replacement therapy for Type 1 Gaucher disease. More dilemmas identified over the continued funding of this treatment, as well as procedural difficulties over registration costs of new medicines in NZ, which may particularly disadvantage future orphan disease treatments. More items for our agenda and further contacts obtained in clinical circles.

November 16
Travelled to Auckland for AGM of the Gauchers Association of NZ and was privileged to meet a dozen affected people and family members. While many of the effects and issues they face are different - Gaucher does not affect intellectual functioning, and they have ERT available - they still have issues regarding diagnosis, clinical care and funding of the therapy, which require ongoing lobbying.

While in Auckland I met with Patricia Zimmerman of the MPS/ML Family Society, Dianne Webster of the National Screening Programme, Mary Parkinson of the Starship Family Information Service, and also with Jennie Giles and Julie McGaughran of the Northern Regional Genetics Service. This visit was very useful for the contacts made and also the opportunity to discuss objectives, strategy and likely obstacles.

Took advantage of a chance meeting with Matthew Ridge, NZ's most famous Rugby League player, and came away with a personally signed note for Timothy. It is now framed and takes pride of place on Tim's bedroom wall.

November 17
Some bad news. I learn that the human clinical trials of Aldurazyme, ERT for MPS 1 - Hurler, Hurler/Scheie, and Scheie syndromes - will need to progress to a further stage of clinical trials before the US FDA will give marketing approval to Genzyme and BioMarin, to market the therapy. Of course I have no idea of all the ins and outs of this decision, but I share the frustration of others that many affected people will have to wait longer for more "evidence" of the effectiveness of this therapy, and that wait will be too long for some. The earliest likely date for general availability is now 2001.

Also during November 1999
$500 received from the National Testing Centre to assist with the survey and distribution of information to paediatricians.
Letter to paediatricians brings in a stream of responses, mostly nil returns, but does deliver some information on other cases around the country. In one case our information arrived just in time for the paediatrician to pass on the information in the same week to a newly diagnosed family and we have almost immediate contact. Saves them the decades of isolation experienced by us, and by other families, brings an immediate reward for the effort we have put into this.
A draft Trust Deed sent off to the Gauchers Assn to assist them with incorporation.
Discussions with Genzyme and Human Genetics Society about visit of Ed Wraith to NZ in April 2000 and opportunities for case reviews for clinicians caring for local cases.
Saturday 27 November brings a change of Government in NZ and opportunities arise to address a number of issues on our agenda. There is a perception that the Labour/Alliance government will be more open to many of these issues than the previous administration. Now if we can just get their attention in the rush!

December 3
An unusual meeting to say the least. Met with a representative of an anti-vivisection and animal rights group that had been protesting at a scientific/research conference at Te Papa, the National Museum. I had a good opportunity to challenge the assumptions and assertions of their group, and could readily identify many of the weaknesses in their arguments, but did not feel he was showing a very open mind on the issue. It becomes clear the debate on genetically engineering of food has the potential to spill over in a very negative way, into the area of medical research on animal models. We may be forced to actively engage in that debate to protect our interests.

December 4
We learn from a survey form that bone marrow transplants are routinely performed at Auckland's Starship hospital, for some MPS conditions. Till now I had thought that overseas treatment was the only option for affected NZ families.

December 5
Another LDNZ newsletter sent out. This one covered the Australian conference, Ed Wraith's visit, and the possibly of a NZ Family get-together to coincide with the Sept 2000 conference of the Human Genetics Society of Australia and New Zealand.

December 9
$2000 received from the JR McKenzie Trust to assist with administration costs for LDNZ. With grateful thanks.

December 12
Received a draft of a detailed workplan for research into Mannosidosis, from Dr Ole Kristian Tollersrud of the University of Tromso in Norway. Ole hopes to work in collaboration with a number of European laboratories to develop a full understanding of the disease, including all the genetic, cellular and metabolic processes involved. At the same time, Professor Dag Malm is experimenting with the production of enzyme from trangenic rabbits to fast track towards enzyme replacement therapy. When funds are so scarce, it’s a dilemma as to which research should be given the highest priority, but there is no doubt we need both sets of work to occur.

December 15
$350 received from the Southern Cross Tavern in Wellington via the NZ Community Trust, to add to our general funds. Thank You Gary.
Contact from Dr Elizabeth Spellacy, now working at Lakeland Health here in NZ, who has experience of LSD's through work with the Medical Research Council (U.K.) and the National Institutes of Health in USA, and wishes to maintain an interest.

December 19
Received information on a US Secretary of Health's consultation paper on genetic testing, and forwarded it on to all relevant contacts to contribute if they wish. We often take guidance from US and European policies when determining our local stance, and the speed of the internet gives local groups the chance to influence the formation of policy at those sources.

December 20
Met with Gary Williams and Paul Gibson, Chief Executive and President of DPA, the Assembly of People with Disabilities. A chance to discuss a range of issues affecting people with disabilities, and the need for more research into testing, screening, causes and potential therapies to treat symptoms and seek cures for diseases that lead to disabilities. The strategy here is to ensure that all the key disability sector agencies are informed and onside, to give added strength to our agenda. We are too small on our own.

December 22
Received reports from Dr Dave Palmer of Lincoln University on his presentation to the European Study Group of Lysosomal Diseases in Sept 99, outlining the first ever development of an in vitro system for the observation of neuronal lysosomal storage. This significant development emphasises the value and importance of continued research and the need to ensure that the sheep flock is maintained for study and research into Batten disease. Dave also reported on further discussions with other researchers, pharmaceutical companies and the National Institutes of Health in the USA. Lots of interesting holiday reading.

December 31
The end of the millennium but just enough time to write a letter to our Minister of Research, Science and Technology, Pete Hodgson, to raise the dilemma of funding for rare diseases. In addition to stressing that NZ has an obligation to the rest of the world to maintain the unique Batten sheep flock and continue the research started by Bob Jolly and continued by Dave Palmer, I raised the need for a review of policies around rare disease research. I propose the idea of an "adopt an orphan disease" strategy, to increase the focus on these diseases, and to get a more systematic research effort under way from new sources of money. The letter to the Minister is completed just in time for us to turn to the celebration of the New Year. May the 00's be the decade of orphan diseases in general, and Lysosomal Storage Diseases in particular.

January 2000
A well earned break for the first couple of weeks of the holiday period, as I recharge my batteries for the year ahead. Doing this work in the evenings and weekends, on top of a full time job can become a bit tiring at times. To compensate, I have started working four days a week only at my regular job, to give me a full day each week for LDNZ and other volunteer roles in the disability sector. I started this new arrangement in November and it makes everything more manageable, but voting yourself a 20% pay cut can have its down side.

January 13
A copy of the letter to the Minister for Research, Science and Technology is sent out to policy people and decision makers at the Marsden Fund, the Royal Society, the Health Research Council, the Public Good Science Fund, the Neurological Foundation, and the Research Vice-Chancellors at Lincoln, Massey, Otago and Auckland Universities. Replies received over the next six weeks clearly show a level of concern among some of them at the effects of current policies on basic medical research, concern that the Batten flock might be lost, and some interest in the "adopt an orphan disease" idea.

January 17
Jenny Noble of Nelson, a parent of two children with ML3, wrote to me with some challenging questions about the status of the group. This has become especially important now that funds are coming in. There is an urgent need to pursue incorporation as a Trust to ensure proper accountability and good decision making around the use of these funds. We agreed to work together to get this set up, and Jenny has also agreed to be closely involved in the running of the organisation. That is good news, as there is much to be done.

January 26
Further funding applications made to Lottery Welfare, Community Trust of Wellington, Tindall Foundation, Fletcher Challenge Trust, and the Springhill and Frimley Foundation. We have three families going to the Australian MPS Conference at the end of March and we need some funds to come in quickly. A lot of time was spent this month on checking out other possible funding sources, checking their criteria against our needs, and requesting application forms for future applications. One thing is for sure, the rate of return so far, is not so good compared to the amount of time spent on grant applications. There has got to be a better way.

Also during January 2000
More new contacts from NZ families following information packs sent to paediatricians, and from responses to our website.
Contact established with more overseas families and organisations, including the German MPS Society, and a number of Mannosidosis and related disease families.
More local contacts established with rare disease support groups for non-lysosomal conditions, and increasing evidence of the need for organisation around the common interests we all have in improved research, genetic testing, treatment and clinical care issues.

February 2000
This month was dominated by:
Writing up the Trust Deed - with valuable help from the Wellington Community Law Centre.
Meetings with Keith Allen and Pat Hanley of CCS, and with the Commissioner for Children, Roger McClay, to promote wider appreciation of the LDNZ agenda and the need for a strong rare disease network in NZ.
Writing up ideas for a fundraising strategy for the International Society for Mannosidosis and related Diseases.
Chasing up the paediatricians to return their survey forms.
Preliminary work for a likely September conference in Wellington to establish a rare diseases network with an emphasis on all the research, clinical care, screening, testing and treatment issues, that are common to so many rare conditions. This would be designed to be complementary to Parent to Parent, the network whose main emphasis is on information and support, and does not engage significantly in lobbying issues. The pattern in the USA, England, Australia and other countries is that two streams of organisations develop along similar lines, reflecting the need for a different focus at each end of the spectrum. To be continued....

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