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Gina Murray was supported by the Lottery Grants board to attend her first ever National Tay Sachs Conference. Gina’s report follows.

Hello all,

My name is Gina Murray and with the generous support of LDNZ I was able to attend the NTSAD (National Tay-Sachs and Allied Diseases) Conference held recently in Alexandria USA.

Before getting into the nitty, gritty of the report I’d like to tell you a bit about myself and my family.

I have three children, Adam 28, Meghan 23 and Ben 17. In June 2005 after 15 years of various tests and misdiagnosis Meghan was finally diagnosed with Late Onset Tay-Sachs Disease (LOTS). As far as I know she is the only diagnosed LOTS in New Zealand. (I’ll be writing our story more in depth for the website shortly). With the help of Jenny at LDNZ I contacted NTSAD in the USA and became aware of the conference being held in April of this year. I was very keen to attend as we had had years with a sense of isolation and frustration of not knowing anyone else quite like Meghan. I wanted to meet others with LOTS and also other parents. I felt I had a million questions to ask and I also wanted the chance to observe and compare and was hungry for the latest in research. I also wanted to bring back all that I learned from the conference for others.

All of these “wants” came to fruition with attending the conference. There were over 250 parents, grandparents, healthy and affected children, affected adults and their families attending the conference. I met with other families (mainly from the USA) with children and spouses with Infantile and LO Tay-Sachs and other closely allied diseases. The informal information sharing answered many of my questions. One thing I learned was that even though the diagnosis may have been the same, the variety and degree of symptoms varied greatly. I also had the opportunity to speak with Edwin Kolodny, Professor of Neurology from the NY University School of Medicine who is well renowned in the field of Lysosomal Diseases. I was able to discuss Meghan’s case and her enzyme test results (which I took along with me). This was wonderful as I hadn’t had the results explained to me previously. I have since had contact via email with him as he had a few suggestions for me to follow up on.

I attended a mix of sessions aimed at both the Infantile and LO form of the disease which I’ll outline below.

*Symptom Management, Home Care Tips and Equipment for Affected Children presented by Linda Price.

Linda is a specialist pediatric nurse attached to one of the children with Infantile Tay-Sachs. The family attended the conference. A very practical and emotional session. I brought back copies of the booklets from this session which I will give to LDNZ as the information is generic to many of the diseases.

*Caregivers of Affected Adults.

Information sharing session which focused quite a lot on issues related to the USA, general symptom management  and discussion on the use of the drug Zavesca (Migulstat), its benefits and side effects. (I will elaborate on this further on.)

*Medical and Research Update:

(The NIH/NINDS Workshop: Glycosphingolipids in Health and Disease was held 5-6 April at the same venue and we were fortunate to have the following presenters from that workshop.)

* BruceA. Bunnell PhD, (overview of current research efforts),

Caloric restriction along with gene therapy or stem cell therapy shows a lot of promise in delaying progression in neurodegenerative diseases. Appears to target CNS inflammation associated with ganglioside disorders.

* Paula Gregory PhD, (ABC’s of Genetics)

* Edwin Kolodny MD, Professor of Neurology NYU School of Medicine,

* David Korosec, RN,

* Gustavo Maegawa MD,

* Cynthia Tiff MD, PhD.

This session primarily focused on an update of Tay-Sachs and Sandhoff clinical trials of Zavesca (Migulstat).

The end point for these trials was stabilisation in muscle strength but there was progressive deterioration in all patients from both the New York and Cleveland trials for LOTS. This is not to say that there wasn’t improvement in other areas. Anecdotal evidence showed an improvement in speech and stabilization of psychiatric symptoms.

Neutral study results thus far don’t sufficiently support in adult patients with LOTS but might benefit Early Onset and/or Juvenile Onset Tay-Sachs.

This session allowed for plenty of questions and informal discussion from the floor.

*Navigating off-label use of Zavesca:

A panel of parents who have successfully navigated the system for off-label use of Zavesca for their child (all pre school age). All of these children have the infantile form of the disease. Although Zavesca is not available in New Zealand as yet  I believe it was important to hear what these parents had to go through in order to get this drug for their children. . Some of the children are still on Zavesca and some have been taken off after several weeks mainly due to side effects such as severe diahorrea (which was also a huge problem for a lot of the teenagers and adults using Zavesca both on and off label). These parents were unsure how Zavesca was working for their children as the nature of the disease is one of deterioration and was it Zavesca that was perhaps slowing things up or was it just the way the disease was progressing. There is really no answer to this.

*LOTS: Fit for Life:

Exercises (incorporating all body joints) for children and adults to maintain range of motion. Practical, hands on session.

I also attended a few smaller sessions and the Annual General meeting of NTSAD.

Overall I found the conference very beneficial, it gave me what I wanted. I have made great connections and friendships . One thing I wasn’t prepared for was the huge rollercoaster of emotions that I went through both at the conference and particularly when I got home. I attended the conference alone (not to be recommended) so I think that had a big part to play in how I was feeling (no-one to debrief with at night). Also the enormity of my responsibility with Meghan and the unknown future seemed more of a reality when I was removed from the day to day dealings with all that having a family member with a Lysosomal disease brings. In saying that, don’t be put off, I would certainly recommend attending an international conference if you are able.

Once again my heartfelt thanks goes to LDNZ for the support of travel costs it has been able to provide to attend this conference.

Gina Murray

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