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For those who were unable to attend the above conference notes were taken to pass on any information and proceedings.

Friday 26th of October a meet and greet was held for all who attended. This gave everyone the opportunity to meet and be introduced to their assigned carer for their children. It was also a good chance to meet Vanessa, the organizer of the conference and the other families and children. Two families from New Zealand attended. There were parents and children of all ages and abilities. It was lovely to see Grandparents and Auntie’s and Uncles had attended to lend their support and to learn more. One of the most common comments of the evening was, ‘how good it was to be able to totally relax around a group of people who were used to the same differences and challenges as their own children experienced.”

We were treated to the most spectacular storm I think any of us have ever witnessed or ever will.

(Given that I was never very good at shorthand and the inability to read and decipher my own handwriting I am going to list small excerpts of what I did manage to decode. At least, this is my understanding of information given to us and I am happy to be corrected.)

Saturday 27th commenced with the children going off with their carers to enjoy a day at ‘The Activity Centre’ and Mc Donalds or fishing and then ‘Kidzklub.” The Parents and extended families began the conference which was opened by Harry Partridge, President of the BDSRA Australian Chapter.

Lance Johnston, Director of BDSRA USA, spoke to us on the worldwide research, trial treatments and funding. It is heartening to know that many fields in both research and funding are being covered. A committee selects eight proposals for the development for therapies (RFP), for Battens from all around the world.

World wide support and information and material are available through Lance. A list of publications/info follows:
Insight of Parents
Parent Mentor Programme
Clinicions in all Fields
Trained teachers to teach others
Grandparents support programme
Pain – rating scale of pain for non-communicative kids (report coming)
Diagnosis review programme – proper diagnosis
Scientific advisory group
Sibling support programme and carrier testing
DVD intervention in the classroom
Videos
Equipment exchange programme
Social Works – help families resources and services.

The following was presented via power point delivery and these are some notes:

Research Information: CLN 3 (Juvenile) presents a lot of inflammation of the brain.

• At some stage there is a lack of recognition and the body is fighting itself.
• Cystagen (Mycophenolate Mofetil) is being trialed on mice and showing positive effects on the inflammation of the brain. It is yet unknown the requirements for further trial.

Gene Therapy delivered directly into the eyes of mice has been trialed to correct vision. It travels up the brain stem in minute quantities. This is an ongoing trial.

Catherine Keir – Kings College London is carrying out research predicting neuronal loss on mouse models.

We now know that the disease starts in the thalamus – not the cortical cerebrum and are attacked early causing cells to die here before anywhere else thus affecting the vision.

Beverly Davidson PhD of Iowa is researching mouse models for a CLN 3 (Juvenile) expression in CLN 5 (‘Finnish’ Late Infantile) and spatial and temporal localization.

• Gene therapy injected missing enzyme directly into the brain. Rather than up to 10 injection sights as previously trialed.
• Intravenous delivery of gene therapy, eliminating the trauma of drilling the skull to deliver injections.
  This would reduce the cost of the procedure and allow valuable resources to be better utilized.

Martin Katz Ph D University of Missouri, working with Beverly Davidson is researching canine model therapy. They have discovered there are a lot of dogs with NCLs. Genetically and biologically dogs are more similar and have longer life spans than that of the mice models.

Cystagen (previously used on Cystanosis another Lysosomal disease). It is being trialed to

• clean out cells
• shown to have individual effects on each child
• remove storage material
• unknown yet if effecting the progress of disease

Infantile and Late Infantile are missing a gene therefore not producing the necessary enzyme it needs.
Juvenile was missing the protein to produce the enzyme it needs.

Stem Cell: Infantile and Late Infantile using injection delivery directly into the brain. Foetal Stem Cell (cell that has missing gene in it) that becomes neurons that produces enzymes and is in the phase 1 safety efficacy trial. Phase 2 Stem Cell Trial is hopeful for 2009. This is not certain yet.

Yi Cao Ph D Massechusetts General Hospital is screening for molecules for drugs effective on CLN 3 (Juvenile) & 6 (‘Variant Late Infantile’) with the aid of the drug library.

Sarah Mole Ph D University College London is carrying out research on Kuffs – adult form.

Speakers

Imke Tammen Molecula Genetics of University of Sydney, NWS and David Palmer of Lincoln University, NZ & on the BDSRA Committee, both spoke to us on the testing that is being carried out on sheep, cattle and canine (dogs). Some of the studies are conducted on Marino and South Hampshire Sheep. These show the same brain inflammation as those who suffer the CLN6. Borderdale sheep and some breeds of cattle show close similarities as those with CLN5. Another interesting piece of information was that Battens occurs naturally in cats, pigs and horses. Funding is going toward a breeding programme to insure a continued supply of animals to our researchers who continue to study these animals and the affects, leading to a greater understanding of Battens.

Deepak Gill Paediatric Neurologist, Westmead, NSW talked on management and medication for seizure activity.
The inflammation of the brain and epilepsy are closely linked. The two halves of the brain are joined by a ‘bridge’ (corpus collosum). This becomes ‘sick’ due to the death of neurons.

Head Centile: The development of the head structure, particularly in Late Infantile, is noticeably different.

Behavioral outbursts, sudden mood changes can be a form of seizure activity in children with neurological disorders. A build up of groups of neurons firing in an erratic way is the cause of this activity.

Function of MRI: blood flow in brain whilst having MRI observing the thalamus.

Myoclonic – short muscle jerks
Tonic chlonic – stiffening
Atonic or astatic – falls to ground and severe
Complex partial – (a focal seizure) – a repetitive bahaviour such as plucking of clothes.

Physiotherapy Helen Kale:

• The need for vigilance of pressure and bed sores, particularly for those in wheelchairs.
• Contracture: the tightening of muscles. Physio can help with this.
• Osteoporosis: brittle bones in Juvenile. A bone density test can be carried out. Medication is available.
• Dislocation of the hips us not uncommon for those in wheelchairs and causes a lot of pain. Need to be aware of this.
• Scoliosis: Curvature of the spine. This compromises the internal organs.
• Constipation due to lack of mobility. Continence nurse can give advice on this also.
• Adaptive equipment for lifting and lifting techniques can be sourced through your O.T.
• Hydrotherapy: help with associative reaction – tightening of muscle within thought process and brain activity.

Educational: Kelvin Shem. W.Aust. (Uncle)

• 2008 Australian Chapter setting up a data base of teachers past and present who can liaise with other teachers on all levels who have taught children with Battens. (Physio’s data base as well)
• Teachers in USA use ‘microphone to earphone’ in the classroom for a more direct delivery of lessons.
• Battens does not affect the physical aspect of hearing. However, it does affect the ability to filter out background noise.
• Children can’t stay on task
• mind wanders
• behavioural problems

If families were having a problem with ‘Inclusion” for their children they could contact Disabilities Discrimination Act (DDA) in Australia or New Zealand.

The need for planning and I.E.P’s as often as necessary for each individual child. This could be short term – daily. Mid term – weekly/fortnightly, long term – weeks/months.

D.V.D – Teaching to be Taught. Particularly informative for Infantile Battens. A copy of this is to be circulated.

In summary:

The venue, Kingscliffe NSW, had beautiful views and plush settings. It was peaceful and we were able to relax in the company of others who shared similar experiences as our own. The women were treated to a creative afternoon of art laced with champagne and the men ‘bonded’ in the bar. Friendships were made and information sharing on a more personal level was every bit as valuable as our learned professionals who made themselves available for one- to- one conversations. They freely talked with, ate, socialized, laughed and shared our grief of what is and what is to come. They are passionate about the research they do and have a genuine need to help. We (my husband and I), felt privileged to have met them and are grateful for the knowledge they shared. Many of us swapped contact details to stay in touch. Talking with others of what therapies and what medication had worked was indeed helpful. The inventiveness of some was priceless. Sharing the journey’s each of us had been on up to the definitive diagnosis of Battens was both moving and in some cases infuriating. Some spoke of diagnosis of Retinitis Pigmintosis, Cone Rod Dystrophy, ADD and ADHD, Conduct Disorder, Oppositional Defiance Disorder, Obsessive Compulsive Disorder, Aspergers Syndrome and Tourrets. One so called professional concluded that the child displayed behaviour that was consistent with sexually abused. It was very interesting that a number of parents before having their child genes test put their child’s condition down to the series of injections (immunization) that our children receive as babies. Discussing traits and behaviours our children display left me feeling more ‘normal that I have for a long while.’ It was good not to get those glazed or side-long glances from people when you mentioned something before realizing that they would never really know what you meant. Having your feelings justified and identified by like-minded people was very valuable. Being able to attend a conference without having to worry about your children enabled us to take so much more on board and it is a luxury we don’t often have. The children’s programme and the carers were outstanding to say the least. The things that shone through most for us were the laughter and enjoyment still to be had and even though we had only just met all of these people we could share out tears as well. For those there whose children had passed on it gave me great heart that they shared their experiences and knowledge and they came out the other side – I often think I won’t. A beautiful and moving ceremony for those children who have passed was held in the garden beside the pool. Poetry was read, music was played, bubbles swirled overhead from the bottles the children were given and butterflies were released as our tears fell. Attending has been rewarding in many more ways that we would have thought.

Ra Timms

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