Update about Isla
16 July 2008
Isla had an eyesight assessment last week. Her test result wasn't the best news, although it was pretty much what Luke and I expected. She has some peripheral vision, mainly light and shade and high contrast objects and images, but probably not any detail. It doesn't look like she has central vision now.
We are feeling very sad for her. Sight is such a primary sense, and one that Isla got a lot of stimulation through, so it is quite hard coming to terms with her losing it. I keep reminding myself though that it is happening gradually and so Isla is adjusting to it as it happens, and that just because we have this news now Isla's world hasn't suddenly changed overnight.
We were given lots of useful strategies about how to help Isla, like always using her name to address her, describing everything we're doing, telling her who we are, and where we are, and having lots of tactile play. Things we were trying to do anyway, but good to have the clear reminder.
In the meantime she's the same darling girl today that she was yesterday and that's what matters.
Tanya
17 June 2008
Carrie Young takes amazing natural light photographs of children and families. Carrie heard about Isla and came and took some gorgeous photos of Isla and Sabine recently. You can see some of them on Carrie's blog at:
http://carrieyoung.typepad.com/love_laugh_live/2008/06/isla.html
More of Carrie's work can be seen on her website www.carrieyoung.com. Carrie's blog is a great read and gives an idea of the talented and special person she is.
12 June 2008
I had a dream about Isla the other night. In the dream Isla was all grown up, she was a young woman, very much like Tanya but with long golden hair. She was tall and elegant and achingly beautiful. It was a lovely dream, but it threw into stark relief everything that Isla is going to miss out on in her life, and everything that Tanya and I and Sabine will not experience with Isla. This is why Tanya and I force ourselves not to think about the future and only to focus on the wonderful here and now with our girls. But those dreams have a way of sneaking up on you. Isla has been taking her anti-seizure medication for about a week now, still on a low dose and working slowly up to a full dose in a couple of weeks time. This week I have only seen a couple of small seizures, whereas they were coming about five or six times a day before. Her sleep has also been fantastic the last few days. Its early to tell but hopefully the medication is doing some good.
Luke
4 June 2008
For the last five months Isla has been on an experimental drug regime of Cystagon and Mucomyst in an attempt to slow down the progress of her symptoms. The medications have to be taken every six hours and had unpleasant side effects including belly aches, nausea and so on. Tanya and I decided we would keep Isla on the trial until we had a clear indication that they weren't working. Yesterday we visited Isla's neurologist and the upshot was that we decided that the time has come to stop the trial. Isla has begun to have absence seizures which are brief, blank periods during which she is 'absent' for a few seconds at a time. These are coming perhaps four or five times a day. Isla is unaware of them herself but they are an indication that the medications are not working and that the disorder is progressing. Also, Isla's eyes are very dilated, which indicates that her eyesight may be beginning to decline.
We will phase out the two trial medications and start Isla on some anti-seizure medication, which may also have the added effect of helping Isla sleep a bit better. Despite all this, Isla has been quite happy lately, loving her baths and scooting around in her modified walker. The reality is however that the form of Infantile Batten's that Isla has seems to be very aggressive and things are declining more rapidly than we thought they would. Tanya and I are now focussed more than ever on Isla's quality of life, making sure she that she has access to everything she could possibly need, doing anything that will make her as happy and comfortable as possible.
Luke and Tanya
20 May 2008
Things are slowly getting back to normal now that the Isla Love Concert is over. We had a wonderful time and had some great feedback from everyone who went.
It was Isla's second birthday last Saturday. She had a very busy day with a family celebration in the morning and a party with friends in the afternoon. She wasn't feeling the best but she really picked up when her friends came over in the afternoon. Her friends sang happy birthday and helped her to blow out the candles on her birthday cake, and then everyone played pass the parcel. She received some great presents too.
Although Isla finds it difficult to communicate and to engage with others, Tanya and I can see her mood change noticeably when her friends come around. She loves being with the other kids and they can transform the unhappiest of days into a great day for Isla.
In other news Isla is currently trying out a fully supportive armchair designed for children with disabilities. She thinks it is great and we hope to get one for her in the next couple of months.
Luke
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.
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.
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.)
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.
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.