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Family life
Tanya Elson – Campaigning mum
Read through the article on Tanya Elson’s experience of a child with Batten Disease and answer the questions that follow the article.
Four months ago Tanya Elson and Luke Donegan were told
that their happy, healthy 18-month-old daughter, Isla, has
infantile Batten Disease. She is the only child in Western
Australia with the rare neurological degenerative disorder and
she is unlikely to survive beyond age four or five. On the eve
of Batten Awareness Day, Tanya sha res the family’s story.
We had trouble conceiving and were over the moon when our little miracle, Isla, was born. She was absolutely beautiful and appeared perfectly healthy. When she was about one we realised that her development was a little slow and took her to a paediatrician who
said she might have a mild development delay.
The advice from professionals was she would probably catch up.
When she was about 16 months old we realised she was starting to
lose some of the skills she had gained. She started to learn to crawl,
but lost the progress. She stopped being able to pick up sultanas.
She had started to say “Mum” and “Dad” – she stopped doing that. Naturally we were worried. Luke’s brother is a paediatrician and when
we mentioned this to him he said we should take Isla to a developmental paediatrician.
He thought she may have Rett syndrome, which has early symptoms similar to Batten disease, but is not terminal. We were naturally devastated but had the tests done, which were sent to a laboratory in Adelaide.
Three weeks later our developmental paediatrician phoned and said: “Can I come over and see you?”
I didn’t think to wonder why she said she would come to see us at home. She came around to tell us in person that it wasn’t Rett
Syndrome but Batten disease. Neither of us had ever heard of this disease and our world just fell apart.
At the time I was eight months pregnant with Sabine, who was born
on January 9. Because both Luke and I carry the recessive gene –
apparently there is one in 400 people who do – there was a 25 per cent chance that our second baby would also have the disease.
The day after we were told about Isla, I had to go into hospital for a pre-natal interview. On arrival I told the midwife and just burst into tears.
She was wonderful and gave me some valuable advice on coping with each day by breaking it down into one-hour time slots. This is what helped us get through the next six weeks – Christmas, having the baby and waiting for the results. Luckily we have such a wonderful family and friends. They brought meals around, helped us out at home while we went on to autopilot and did everything we could to focus on Isla. We just shut our brains down.
For the first three weeks of Sabine’s life – waiting for her test results to come through – I felt so awful for her. I was thinking that this should be the most wonderful time in our lives. If we thought about the bigger picture we would have fallen apart.
When it was confirmed Sabine did not have Batten disease it was like being given our lives back. Now we have the capacity to go on. We would have gone on anyway, but knowing we had the emotional capacity to be really available to both of our girls was like coming back to life.
Isla’s situation is never going to be any better that it is at the present, so we remain focused on the here and now.
The thing we want to do is raise awareness of this rare disease, which receives very little funding.
There is not a lot of information around and we are still trying to adjust to the news. We have so many questions. How do people practically and emotionally deal with the disease, and how do they know what to expect? Blindness will happen, but what’s that like for the family? How do you help a child adjust? What’s it like when they have a seizur e? These are things we don’t know.
In spite of everything else, she’s our gorgeous girl. She does not smile as much as she used to but when she does – it does sound corny –but it’s like the sun has come out. We spend a lot of time trying to get her to sm ile. It’s just so wonderful when she does. She really enjoys company. She loves having people around. She loves stories.
People just want to help and it means the world to us. No amount of help can change the outcome for Isla but it makes us feel part of the community and less alone in this. Our friends are putting on a concert
on May 9 at the Fly By Night club to help meet the costs of medication, therapy, care and equipment.
We try not to spend time thinking about the awfulness of the situation. We want her life to be a positive one.
Williams, G 2008, ‘Tanya Elson – campaigning mum’, STM Sunday Times Magazine, edition 1, pg 8.
Reproduced with the permission of Gail Williams of The Sunday Times.
Complete the questions on the following page.
What coping advice was provided to Tanya?
What support was provided to help Tanya after Sabine was born?
What could Tanya and Luke do to raise further awareness of Batten’s disease?
What support will Isla and her parents need throughout their lives?
Think about the ongoing costs of caring for a family member with a disability.
What other ways can the community support these families?。