28 April 2008

from Luke Donegan

Tanya and I are still constantly being overwhelmed by people’s generosity. Tanya had morning tea with her ex-colleagues from Identity WA, an organisation which Tanya used to work for which provides respite services for families with children with disabilities. Tanya’s lovely colleagues donated a cheque of over $1000 which at Tanya’s request was made out directly to the Australian chapter of the Batten Disease Support and Research Association. This money will help fund research into Battens and help speed up the inevitable but as yet undiscovered cure.

Tanya and I made contact with the parents of a little girl Hayden from Wisconsin USA who unfortunately has also recently been diagnosed with Infantile Batten Disease. Reading about Hayden was like reading about Isla – their stories are almost identical.

Click on here to read Hayden’s story.

Our thoughts and hopes are with Hayden and her family as they are with our own daughter.

Isla has not been great over the last 2 weeks. She and Sabine have both had colds and have been generally miserable, but hopefully things will pick up soon. Although, here is a lovely photo of Isla and Sabine spending time together in Isla’s bedroom.

Isla_and_Sabine

17 April 2008….from Luke Donegan

Isla’s neurologist recently prescribed a new medication to help her get through the nights. She has been taking chloral hydrate which generally helps her get to sleep but doesn’t keep her asleep for long. The new medication Melatonin comes in a slow release tablet form (not yet generally available in Australia) that makes its effectiveness last longer. Melatonin is the natural hormone produced around sunset that tells the body ‘it’s time to go to sleep’. Since Isla has been taking the new tablets she has been going to sleep really well and getting through to about 2 or 3 in the morning. She’s generally up then for an hour or two before getting back to sleep. (We’ve been enjoying late night screenings of Ratatouille on the portable DVD player.)

Luke_and_Isla_s

Isla with her dad, Luke.

Isla’s physiotherapist has provided a head and neck support for Isla’s use in the bath. This has made bathing much easier and Isla can splash around without us needing to constantly support her head. And it is easier on our backs.

Isla has good days and bad days. She has been pretty unhappy the last few days with tummy trouble. On a brighter note Isla came back from day-care the other day with her first ever finger painting. Isla’s fine motor skills never really developed so Tanya and I were very excited to see her painting.

Isla's_first_finger_painting_w_brdr

Isla’s first finger painting.

At Ngala Isla has a personal carer who is able to help her do what the other kids are doing. When the budget was approved for Isla’s carer she was moved into the 1 to 2 year olds room. Tanya and I are much happier that she is with kids her own age and Isla seems to be happier there as well. I went to pick her up the other day and she was sitting at the table with all the other kids having afternoon tea – she looked so happy and included.

4 April 2008….from Luke Donegan

Isla has recently had an ERG test for her eyesight and we were pleased to hear that the results are positive and that her eyesight is still good. This was a great relief because from the reading we have done eyesight is usually one of the first things to deteriorate. Isla has been on her trial medication for about eight weeks now. These are two drugs that are being trialled in a study in the United States, Cystagon which is normally used for kidney disease and Mucomyst which is used to treat Cystic Fibrosis.

It is hoped that in combination these drugs will clean out the lipopigments that are ‘gumming up’ Isla’s brain cells. It takes six weeks to build up the dosage to full strength which Isla has now achieved. It will probably be at least four more months before we know if the medication has been effective but we will keep you informed as we go. While these drugs are not a cure for CLN1 (Infantile Batten Disease), the hope is that they will extend Isla’s life expectancy and hold back the onset of seizure activity, improving Isla’s quality of life.

Apart from this Isla has been doing well recently. Her mood is pretty good and apart from not wanting to go to sleep in the evenings she has been sleeping well. Tanya received lots of lovely comments from friends in response to the Sunday Times article last week and we have been inundated with messages of support from the community.

Here is a link to a scan of the article that appeared in The Sunday Times:

First Person, Sunday Times Newspaper, 30 March 2008.

Tanya Elson Campaigning Mum 30th March 2008

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