Batten Conference at Sea World Resort 2010
by Sharon Noble
Despite the rain there was warmth in the air at the Batten Conference at Sea World Resort in October 2010. Batten families from all over Australia and New Zealand came together to share the joys and sorrows of caring for a child with a rare storage disease. There are now 9 families in New Zealand with the latest family diagnosed from Dannevirke. It is a great time for the families to interact with each other as they are spread from Kaeo to Invercargill in New Zealand. Families were matched up with a buddy family so that there was someone to bounce questions at and pass on past conference experiences. The researches and other speakers mixed freely and interacted with both the children and the parents. The children had fun at the Kids programme and seeing the interactive Sea Lion Show at Sea World. The rain put a bit of a damper on the Movie World adventure and meeting of some of the special characters from Sea World.
The Conference was opened and the guests were welcomed by Harry Partridge, the president of the BDSRA Australia. He spoke about the lost of his son David to Late Infantile Batten Disease. The love and gratitude of having a special child like David and the sense of community and companionship he gained from be involved in a support group. He also spoke about the conferences of the past and the fun that was had by all who attended.
Lance Johnston the President of the American division of BDSRA spoke, via video, to the group on the first day about the research that has been carried out. Modern technology was great in this presentation and it’s use in the chance for future treatments of rare diseases. The use of stem cell, enzyme replacement and gene therapies are now in phase 2 for the children with Infantile and Late Infantile Batten disease. Juvenile Batten Disease is still more difficult to treat but there is some research related to the use of immuno-suppression drugs such as Celcep. Both Lance and Jonathan Cooper stressed the fact that these are in the trail phase and that they would not recommend families sort to undergo these treatments without the knowledge that it is not confirmed whether the benefits would be long term or adverse. There was still a lot of work to be carried out.
Lances video was followed by the first of many delicious tummy treats and a chance to interact with the researches and other families.
Dr Michel Fretz from the Women’s and Children’s Hospital in Adelaide in South Australia was next to present to the families. He gave a brief overview of what the disease was and how it is diagnosed. He explained clearly about how all were autosomal recessive diseases – in other words two copies of the gene are not working . He spoke of how Flourescent storage materials are found – these are seen mainly in the nerve cells. Michael told the group about the National Referral Laboratory which as has been a diagnostic Laboratory that has been running for 30 years. It’s main focus is on diseases affecting the bio chemistry and the aim is to provide comprehensive diagnostic services, doctors, diagnostic scientist and researches. Vivienne Mullerwas the driving force behind the testing in the 90’s. They have established testing for the CLN1, CLN2 and CLN3 conditions. This has allowed testing on children with CLN1 and 2 for enzyme tests for PPT1 (CLN1) and TPP1. They can search for common mutations. CLN3 is not an enzyme but a protein issue. They can also send samples overseas. He said “we have now started setting up mutations for CNL5, CLN6 and CLN8. But unfortunately testing for other CLN’s is not always straight forward”. For Prenatal testing is only possible if the mutation of each parent is known. These samples must be received from both parents before the testing is preformed and can be done in either the first or second trimester of pregnancy. For carrier testing Michael stated that these can be performed if the mutations are known. This allows the mutations to be traced through the family. It will indicate if the person is at any risk of having an affected child. If the partner is to be tested this can be more difficult but is possible. Again the mutation needs to be known. It helps but can not rule out carrier status. Enzyme testing ‘TTP1 Enzyme Activity’ suggests they are a carrier but can not give a definite diagnoses therefore may reduce the statistics.
Jonathan Cooper, from the Institute of Psychiatry, Kings College, London in the UK, with his cool, calm approach, delivered a parent friendly presentation. He backed up the information from Lances video but did stress that the Gene therapy gives better quality of life but does not make the mouse models live longer. He is not sure at this time why it doesn’t make them live longer. In a summary he said that Enzyme replacement trails are only being conducted on mice at this time where as Gene therapy and stem cell therapy are being trialled on both mice and people. Some of this are going to be open to international inclusion or exclusion depending on mutation or severity. His research continues. Much excitement was expressed by his announcement of the 13th International Congress on Neuronal Ceriod Lipofusuonsis (BD) London 2012 and the 1st International Congress on for Batten Parent on 27th March -1st April 2012 in London. I suspected that there will be a lot of saving going on from now until then.
Imke Tammen form the University of Sydney, NSW has worked with Jonathan and David Palmer from NZ in the research for Battens. She has been faced with increased dilemmas of working on animals and the ethic of this. She is in talks with Tamara O’Rourke who is opposed to this but Imke feels we need to keep on with this work for better understanding and therapies. Imke late spoke to parent who knowing the implications of her work, fully supported her stand, but understood where Tamara was coming from.
Dr Deepak Gill summarised vey clearly the types of seizures, medications and which treatments are best. He made it very clear that children need to be treated on an individual basis as not all people respond the same to the same medications. No single medicine has been shown to be consistently beneficial for seizure in Batten Disease. Medicines must be chosen in accordance with effectiveness, tolerance and to avoid sedation.
Laurie Taylor, Rob Eadie, Michelle Lavin, Ceri Ochnio, and Philly Smith spoke in details about their services that support Battens families in Australia, making us non- Ozzies feel somewhat envious!
All the families would have thankful for the time Philly Smith and Katie Lynch took to explain Palliative care and Manual handling care for family members caring for a child with Battens. The quote by Philly ‘adding life to your years not necessarily years to your life’ was understood very much. From the care that families and their child after receiving the diagnosed of an eventually fatal disease to the actual end of life care. Their knowledge on all things related to care of our children was amazing and reassuring. I personally learnt more about gastrostomy feeding, care and Stoma Nurses that will most likely be part of our child’s and our lives in the future.
During the break-out groups discussions various topics were covered such as support, extended family involvement, behaviour issues, school and facing death. Tears were shed and laughter shared as families expressed true feelings about this devastating journey we were all on.
Music Therapy was part of the women’s social activity. Vanessa Solomon form the University of Queensland and Bremer Institute of TAFE, Brisbane, QLD got the beats going. After a bit of a discussion of the theme and tune we were off with a reflective little number. It sums up our lives as a parent of a Batten’s child.
OUR LIFE (to the tune of Muma Mia)
Here’s our life,
Here’s the tears again,
Our journey keeps going on.
Here’s our life,
Here’s the tears again,
Give me strength to carry on.
Yes we are broken hearted,
All of our dreams are shattered,
Did this happen to me.
These dreaded genes,
Is so exhausted,
For these friendships.
Our special children,
We’re so full of hope,
Even in the pouring rain.
There’s joy in every smile,
Even if it takes a while,
We will always love you.
There was a moving Remembering Service for the children who have lost their battle was held in the Waterfall Café as it was far to wet for the planned outdoor event.
Vanessa Anderson the event organiser put to the final meeting that with more children being diagnosed in both New Zealand and Australia, the group might consider state or regional annual meetings and to consider that New Zealand might like to have their own branch. Ra Timms (Timaru) and Lynda Dougan (New Plymouth) from New Zealand are pursuing this in the first instant and will share more information as it comes available.
Over all it was wonderful to reconnect with the families who have travelled a similar road to our own. On behalf of all the Batten Families in New Zealand I would like to personally thank LDNZ and BDSRA Australia for all their work towards making events like this possible for our families.
5th Battens Conference
Seaworld Nara Resort Queensland, October 2010
By Lynda and Torben Dougan
Well what a wet weekend! As per normal the conference was extraordinary. A lot of useful information was obtained. Particularly the manual handling speaker. She was extremely helpful following the seminar going over several techniques on a one on one basis. The researchers and scientists are amazingly dedicated to our cause. It is pleasing to see the clinical trials taking place for the Infantile and Late infantile strains. We Juveniles live in hope!
It was fantastic to catch up with old friends also. To see the change in the children, to laugh and share stories.
It is very sad to think this was probably the last conference in this form. I feel that perhaps the network opportunities for Juvenile families will be lost as we are so few to the other strains, when the conference goes regional. I feel it also highlighted the need for us Kiwi’s to band together. Our facilities and services are very different to those in Australia. We must pool our knowledge and support. Perhaps our own identity will help us do this. This was spoken about briefly and I believe we need to research the pros and cons of this very carefully so as not to reinvent the wheel.
Jon Cooper of Kings College London told us all of a fabulous opportunity to go to London 2010, To join with many more specialists and families. I know we are all very excited at the chance of going. We wish to work together to make it happen.
Torben and I had a great time despite a few hiccups along the way. We must say Air New Zealand made the experience easy for us. This was the first time I had travelled with Torben immobile on my own.
A very, very large thank you to LDNZ for making this trip possible. I know how hard you all work to make this possible. Also Battens Au for paying our conference registration fees.
Again Thank you
Report for the Batten Disease Conference October 2010
By Ra Timms
My first day at the conference started with the AGM. This was quite an informative process; highlighting the huge amount of work it takes in organizing such an event and the process leading up to it. Many of the aspects are what we as the families never experience and I now have a stronger respect for Vanessa who is at the helm of BDSRA and Jenny Noble who very ably steers LDNZ.
Many of the Australian families play a very active role in fund raising and public awareness. Some of them are able to contribute a lot of time and expertise in whatever field they are in and whatever fundraising venture they have undertaken for the collective cause, obviously this is at whatever level they can.
In this meeting Vanessa spoke of BDSRA Australia, in its current single identity separating and each state becoming their own entity; coming together for the larger gatherings as and when decided. There was discussion of New Zealand doing the same with LDNZ’s guidance. This was later discussed in the general forum of the conference.
It was fantastic to meet up with the families I had previously met at the first Australian Conference we attended and then again at the Christchurch one. In my experience it is hugely gratifying to meet, mix and share with others that have walked and are still walking that very same path as we are.
It is so very sad that there are two other families that have joined our ranks of Families with Batten Disease, however, in saying that it was indeed a privilege to be able to share with them information we have already gleaned from this journey – even in its smallest measure. And this was a two way thing as I too learnt much from them.
All the Professionals who spoke and updated us on where they are with their research and the progress they have made for our children were so generous and patient with their time. There was a safe atmosphere to ask all those questions that you have always wanted to ask, even though they sound silly when you try them out in your head.
The discussion groups for the individual types of Batten Disease were valuable and informative. Just as valuable, too for the laughs we had with each other. At times there was heartfelt grief and sadness for what is yet to come for our families and again there was a safety net to let that out there. Most of the time there was an easy going camaraderie and lots of laughter.
The Saturday night dinner was an outstanding event with spot prizes, raffles, and an auction. Followed by a fantastic meal, a great band and dancing; so much fun that there was a few sore heads the following morning.
As always the Remembrance Service was meaningful and moving. Three beautiful ladies with equally beautiful voices sang to us with exquisite harmonies. All of the songs were beautiful but the one that stood out the most for me was, ‘In The Arms of an Angel.’ As they sang the children played and blew bubbles and we all held stunningly beautiful flowers -Gerberas. Some later set them to sea from the nearby wharf.
I would like to thank LDNZ for their assistance in getting our family and the other families affected by Batten Disease to this conference. Without their assistance I would not have been able to attend. The networking holds true value for all of the families with Batten Disease as in any other condition.