April 8 1999

Met with Iain Hines, Executive Officer of the JR McKenzie Trust to brief him on the conference information. Some of our costs to get there came via a fund they help administer. Some helpful suggestions and reality checking, especially about doing it in manageable stages.

 

April 21

Met with Jan Dowland, Chief Executive of IHC, who also funded us through the Donald Beasley Foundation. Jan agreed to a 20 minute presentation at the next Council meeting of IHC, and agreed to assist with costs such as mailouts, copying, etc.

 

May 4

Michelle Hill, Librarian at CCS NZ, provided helpful information on contacts and strategy for progressing the cause.

 

May 5

Dr Joanne Dixon, geneticist at Central Regional Genetics Service, Wellington Hospital, provides useful advice on ongoing medical care for Timothy and Hollie, and arranges for blood samples and DNA to be sent to Dag Malm in Norway for study. She also advises me of a big hurdle here in NZ regarding research funding – the research community simply does not have the resources, and funding policy changes are likely to make things more difficult for research on rare disorders. Under current policies it will even be difficult to get the funding for the cost of the therapy when it is available.

 

May 13

Paul Curry, General Manager, Community Development, Lottery Grants Board, discusses the importance of getting families organised and linking closely with clinicians and others who have an interest in the topic. His own experiences of disability and having a daughter with diabetes, provided valuable information to me.

 

May 14

First visit to the Specialist Rehabilitation Service at our local hospital. This is the nearest we can get to the Specialist Metabolic Service we need over here. Timothy and Hollie’s base lines are taken and a thorough check given by the multidisciplinary team over the following weeks. This highlights another of the many problems of such disorders – paediatricians are the doctors most familiar with them, but tend to cut of their input as the child becomes an adult, leaving obvious gaps in continuity of care. This link to the Rehab service is the first multidisciplinary assessment they have had for over 6 years.

 

May 14

Met with George Salmond, former Director General of Health and NZ representative to the World Health Organisation. Another reality check about the likelihood of funding from that source. Too busy struggling with the consequences of poverty world wide and trying to provide clean water and basic health services to millions, for rare diseases to get a look in. Reinforcement of the need for family organisation and the suggestion that finding the right philanthropist is a possible key to funding needs.

 

Also during April and May 1999

First email and phone contact with Professor Bob Jolly. Bob is the scientist from Massey University, just a few hours drive away, who did such important work on Mannosidosis in Aberdeen Angus cattle here in New Zealand, as well as other groundbreaking research in Lysosomal Storage Disorders, including Battens disease.
The first of many vital contacts on this topic with Valerie Smith. Valerie is an advisor on Disability Support Services with the Ministry of Health and a great source of information and contacts. I learn there is some concern in Paediatric circles about the lack of specialist services for metabolic diseases and their ability to provide appropriate care for affected patients. Having their thinking in line with mine should make the task a bit easier.
First application made for funds for Mannosidosis research from a small local source. Watch this space!

 

June 4 1999

Travel with Tim to Palmerston North to meet the great Bob Jolly. Lots and lots of interesting information and anecdotes about the issues and people involved in LSD's, as well as some of the frustrations and triumphs in his brilliant career. Good discussion about the promises for the future as well as the difficulties of the present. Continuing funding for rare disease research remains a problem. Strong reinforcement from Bob of the need for parent organisation for support and lobbying.

 

June 17

Tim and Hollie write to Taryn Murphy daughter of Paul, at her own webpage Taryn's World. This is an excellent resource for young people with any rare disorder, or for those who want to know more about them from a young person's perspective. Chat about music, movie stars, and dogs mixed in with very useful information for kids and parents alike, on rare diseases. Helpful hints on how to explain things mixed in with art displays from courageous kids. This site is a must for all affected families.

 

June 22

Meeting with Dr Pat Tuohy, Chief Advisor Child Health at the Ministry of Health. Pat has had comment from other paediatricians on the need for improved care for LSD's and other genetic metabolic conditions and is supportive of our goals and objectives.

 

June 23

My written report on the MPS conference with my list of recommendations and action points is sent off to our modest mailing list of 19 NZ families affected by LSD's. Finding the other 150 is a high priority.

 

June 28

Interviewed by Mike Gourley for National Radio's Future Indicative, a programme for and about people with disabilities. The topic was Mannosidosis, LSD's and the effects on our lives.

 

June 29

A chance discovery of an article in the NZ Education Review about a researcher at Victoria University, Wellington, doing work on the blood brain barrier problem using Batten sheep located at Lincoln University, Canterbury. Made contact with Stephanie Hughes who is now continuing with similar work at the University of Iowa, and this leads in turn to contact with Dave Palmer who has done significant on the Batten sheep model.

 

Also during June 1999

Started the process of sending my conference report to every clinician, researcher, and health policy analyst I could find who has or should have an interest in LSD's, as well as to related support groups, disability sector organisations, special libraries, the Commissioner for Children and a politician or two. Phone discussions with four of the senior managers at the Health Research Council who administer the Government's funds for health research. I suggest there is a policy vacuum in relation to funding for rare disorders which needs particular attention, and I promise to keep in touch with my ideas.

 

July 3

Presentation of my MPS conference report and recommendations for action to the NZ Council of IHC, including 50 Branch Presidents from around the country. Agreement from them for IHC to support the international Lysosomal Diseases Alliance.

 

July 9

Email contact with Callum Wilson a New Zealand paediatrician doing training in metabolics in London and hoping to come back next year to set up a Specialist Metabolic Service at Starship Hospital in Auckland. This is great news. We are already half way down the track on this as a proposal is currently before the Health Funding Authority for this. We are not alone! There is someone else out there seeking to do the things we want!

 

July 10

Hear from Sami Damak another NZ researcher but now overseas as funding policies have curtailed his opportunities to work on Batten disease. Is it time for a public warning that bureaucratic funding policies are harmful to our health?

 

July 11

Hollie leaves home, moving into a nice home in Stokes Valley just 5 minutes drive away, where she will share the house with 4 adult women and an IHC support worker who helps them manage their daily lives. Judy and I can hardly believe how smoothly it all went. The nest is now empty. Is it too good to be true? Will we be able to cope without the nightlight in the hallway?

 

July 19

A lengthy but very productive phone call to Dianne Webster, Director of the NZ screening programme and one of the planners for the proposed metabolic service. I learn that Metabolic Disorders are second priority behind children with cancer, for child health services, and that gives me a boost that the task of improving clinical care will be a little less difficult than anticipated. The new-born screening issue looks a bit problematic with the number of false positives thrown up by the Guthrie card checks, and it looks like some refinement of the technique will be needed before it can be routinely applied. After discussing a number of things with Dianne, I am more convinced than ever that parent organisation is an essential step to progress. I am disturbed to hear though, that testing to confirm suspected LSD cases is not done on a routine basis throughout the country. That is just the way it was for Tim and Hollie over 20 years ago, and perhaps understandable when so little was known back then. But it should be thoroughly tested in all suspected cases now- especially with the increased knowledge of the conditions and their management, and the emergence of treatment options for some of the conditions.

 

July 20

Met with Carol Searle, Manager of Disability Support Services at the HFA and in the course of a meeting on work business, manage to slip in a plug for greater awareness and provision for rare diseases, and LSD's in particular. That evening Joanne Davidson, a parent with the Australian MPS society is in town for the night and Judy and I take her and her friends out to a nice wharfside restaurant for dinner. A timely reminder that we all need time out to look after ourselves, and a wonderful evening out.

 

July 22

Met with Dr Jim Edwards a senior vet with the Ministry of Agriculture and Fisheries and President of the World Veterinary Association. A very informative discussion about the role of vets in human health research and care, and further useful contacts which lead me to Peter Spratt, Executive Officer Education at the Royal Society of New Zealand. They administer the Marsden Fund for basic research initiatives, and I have another chance to discuss the policy vacuum on funds for rare disorders.

 

Lessons learnt so far:

Everything takes longer than expected, and the tasks involved will usually be more complicated than first thought.
There are so many people (even if it is also so few) who have a connection to these issues, and invariably they are very helpful and courteous to the inquisitive and enthusiastic parent.

Always ask each of them, " who else should I talk to?" as this will greatly boost the number and range of contacts.

 

Pace yourself! I decided on ensuring I made at least two significant achievements each week, either contacts or meetings or writing a letter or report, and that helped spread the tasks to fit with work and family commitments.