Step 1 – Start with some knowledge of the condition.
In 1997 our 22 years of isolation and ignorance ended when we made contact through the internet with Paul Murphy, a parent of Taryn who is affected by Mannosidosis. Paul has put together a website www.mannosidosis.org which gives access to probably all that is currently known about the condition.
At about the same time we corresponded with Dag Malm who is also a parent. In his case two of his three children, Emilie and Silje, are affected by this condition. Dag is a medical specialist at the University Hospital, Tromsoe, Norway. He has collaborated with other researchers there to do major research on the condition, identifying the enzyme, the gene and its sequence, and the mutations that occur.
Further contacts during 97 included:
The British MPS Society, which provided us with names and contact details of three British families affected by Mannosidosis.
The New Zealand MPS/ML Family Society, with a mailing list of 19 MPS affected families in New Zealand.
Through these contacts we were able at last to have the opportunity to talk or write to others and share experiences, and to learn a lot about mannosidosis and other MPS and related disorders.
Step 2 – Build on the contacts
November 98 – A meeting with MPS families in Auckland. Our first direct contact with other families, and an opportunity to meet with Professor David Sillence and Dr Jenny Ault, both specialists from Sydney and well experienced with Mannosidosis and other Lysosomal disorders. Also present were representatives from the Australian MPS Society, including their President Teresa Llewellyn-Evans.
Step 3 – Get it all in context
March 99 – 5th International Symposium on Mucopolysaccharide and Related Diseases, Vienna.
This was the eye opener, the shock, and the catalyst for a commitment to action. It went beyond the personal quest and search for answers and information, though it was invaluable for that as well as for the excitement and the comfort of personal contacts made. It was the point at which we realised that so many people are working to solve the problems of Lysosomal Storage diseases, and that the development of therapies appears so achievable given the state of theoretical knowledge, the excellent range of animal models of the diseases available, and the successes already achieved in some of the 41 diseases.
The problems clearly identified at the conference, and extended to the New Zealand context, quickly became apparent:
Significant problems getting funding sources to give sufficient priority to the basic research, and to the wider production and funding of the treatment once it is produced in the laboratory. This is a problem common to all “orphan” diseases (those which affect small numbers only). The risk is that we will be forever in the basket labelled – too small, too few, too hard, and too bad.
A lack of specialist clinical services in many areas, and a general lack of knowledge among primary and some secondary medical services, of appropriate management of the conditions.
Few contacts among affected families leading to a lack of essential information sharing and emotional support, but also denying us the opportunity for organised lobbying – still an important factor in decision making processes.
Step 4 – Develop an action plan
For the New Zealand MPS/ML Family Society we proposed the following objectives:
Broaden contacts to include all lysosomal storage disorders on the mailing list and membership.
Gather information on the state of the research.
Connect more with the Australian MPS society and support the development of an international Lysosomal Storage Diseases Alliance.
Connect more with local professionals – clinical and scientific – to get them involved with us.
Lobby for a newborn screening programme for lysosomal disorders in NZ.
Lobby for a specialist medical service for metabolic diseases.
Lobby for increased Government contribution to the research funds needed.
Increase the regularity of newsletters – hopefully to a wider mailing list.
Comment on the Paediatric Review currently being done by the Ministry of Health.
Identify potential donors for funding grants.
Work with other rare disease groups to develop a NZ organisation for rare disorders to strengthen the local voice of the orphan diseases, and to link in effectively with these and other international organisations. More on that too, later.
Step 5 – Prioritise
The immediate task is to focus on something that is realistic and achievable and which will get us moving forward fastest. Some of the broader needs may have to wait. My assessment is that the priority here in NZ is to find out as much as possible about who is doing what, get it all noted down, and talk to as many people as possible who are interested, or ought to be, in Lysosomal Storage. We need a lot of things but first we need a stronger network of families, researchers and clinicians.
Step 6 – get a computer and Internet connection
Doing this work would be impossible without one. To be continued……..