Isla and Nanna and Poppa

 

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5 May 2009

Isla is calm and settled most of the time lately. It is so lovely to see her relaxed. She is still waking several times during the night and has sleep medicine to help her, but her nocturnal wakings are usually no more than an hour each time now, which is much more manageable than before. She is sleeping more during the day and usually has a couple of good naps in her armchair.

In January Isla had her tummy tube replaced with a MicKey button and detachable feeding tube. This is very discreet and it is nice that Isla doesn’t have a tube permanently dangling out of her clothes. It is very easy to use and we will be able to replace it ourselves rather than Isla having to go back to hospital to have this done. Isla has half of her fluid meals as a continuous pump feed overnight now because she was having trouble getting sufficient volume through her gravity feeds during the day.

The members of the Kalamunda Lodge of Freemasons made an extraordinarily kind and generous donation to Isla recently. Initially we had hoped to use it to purchase a swing for Isla but she now needs more physical support than the swing provides. Instead it will be a huge help towards the cost of a supportive car seat for Isla that enables her to recline slightly and keeps her safe and comfortable. Thanks so much to the Kalamunda Lodge for their wonderful gift. Sabine is quite besotted with her big sister. Her first word was ‘Isla’ and now when she is picked up from daycare she chants ‘Isla Isla Isla’ during the drive home. She loves to snuggle Isla and give her hugs, and her favourite place is Isla’s bed. Isla is gently accepting of even the roughest love from her little sister. It is wonderful seeing our two girls spending time together.

Tanya, Luke, Sabine and especially Isla.

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3 December 2008

Isla has started a special new anti-seizure medication from Japan. While her seizures haven’t lessened, Isla does seem more at ease generally. She is also sleeping better – last night she slept through the whole night, for the first time in a year! Isla’s PEG (gastrostomy) is still going really well. She uses it for all her meals and medication, and it is much easier on her this way. Isla’s external feeding tube which dangles from her tummy will be replaced in January with a low profile valve that will sit flat on her tummy. It won’t be visible through her clothes, and won’t be tempting for Sabine to try to pull on like the one she has now!

Thanks to funding from the Disability Service’s Commission’s Community Aids and Equipment Program and also from DSC’s Local Area Coordination, Isla has a great new Kimba stroller with a super adjustable and supportive seat. It also has a buggy board attachment that Sabine can ride on when she is a little older. The stroller means Isla has a comfortable seat now that she can take anywhere, and she has even tried out a couple of naps in it. Isla’s playgroup has purchased a groovy mauve beanbag that she can stretch out and relax in. She has test-driven it with some more napping, and it has proven so comfy that we bought one for Isla to use at Ngala daycare as well.

We are really looking forward to Isla and Sabine sharing their first Christmas together soon. They have been very good this year so no doubt Santa will be making a stop at our house.

Merry Christmas and our warmest thanks to everyone who has supported Isla in so many wonderful ways.

Wishing you the best of everything in 2009.

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6 October 2008

A lot has happened over the last few months. Isla’s difficulties with swallowing have worsened and after many discussions with her doctors we decided it was time to get a feeding tube (PEG) inserted. Isla went to hospital a couple of weeks ago and had the PEG put in. The operation went well and now Isla takes most of her food, drink and medicines through the PEG. We offer her food orally every meal time and when she has a good day she can eat quite well. The good thing about the PEG is that Isla doesn’t have to taste the medicines that she has to have, and it makes it much easier to keep her food and drink intake up at healthy levels.

Isla’s seizure activity has also slowly been progressing. She has just started a new anti-convulsant called Keppra which hopefully will get things under control. The seizures do not seem to bother her in themselves, however they can keep her up at night and prevent her getting the rest she needs.

People often ask us how aware Isla is. It is difficult to tell because Isla does not have the ability to speak or use her hands or maintain eye contact. However, we feel that she is still aware of the people she is close to. She loves being held and snuggling with Tanya and myself and her grandparents. She kicks us in the back when she wakes at night and wants to have some milk. And when her friends come to visit her mood lifts noticeably. She loves her bath in the evening and she loves lying on her back on the lawn with the sun on her face. She and Sabine hold hands in the double pram when we are out for a walk.

Tanya and I are completely focussed on looking after our girls and doing everything we can to increase Isla’s quality of life. We believe that she does still have quality of life, and there are many times during each day when she seems content and at peace. And Isla brings such absolute joy into out lives as well.

Update – Isla has been on the Keppra for two days now and in that time we haven’t seen any major seizure activity.

Tanya

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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.  

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.

 

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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.

 

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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.

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.

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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.)

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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.

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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