Tara's Story: 'She was very small and square and had no waist'

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Tara is now 13 years old but it took her mother Margaret a long time to find out what was wrong with her daughter. Unfortunately during this process Margaret discovered that Tara's youngest sister Aisling also has Gaucher's disease. Margaret tells their story here:

Our third daughter, Tara, was born on 2 June 1986. She weighed 8lbs 10oz and was healthy but some weeks later, I noticed she was not thriving and was very thin. I took her to the nurse who weighed her. She was amazed how light she was for six weeks.

Her milk formula was changed but she did not improve. She was admitted into hospital and after lots of tests it was discovered she was allergic to milk.

She was put on a soya based formula. She started to thrive and put on weight. Everything seemed fine and she was very seldom sick. She stayed on this formula for twelve months.

Very Small for Her Age

As time went on I noticed she was still small for her age. When she was three and four years old, people used to comment on her size. Her two older sisters were average for their ages. One is five years older than her; the other four years older.

When Tara was five and six years old, she still fitted into clothes for three to four year old children. I was not really worried at this stage as I thought it was something connected with the problem she had as a baby.

My neighbour who is a nurse mentioned to me one day that Tara was an odd shape. She was very small and square and had no waist. She also had folds of fat around her neck. However I still did not do anything as she was getting on well in school and was healthy.

In November 1995 I was watching a medical programme on TV which was discussing Turners disease. I was convinced this is what Tara had. The following morning I took her to our family doctor who examined her and could find nothing wrong.

I was determined at this stage to go further and I asked him to refer us to Dr John Cosgrove, a paediatrician at Waterford Regional Hospital whom I had met over the years when bringing the other children for different problems.

I met Dr Cosgrove on the following Saturday and told him about seeing the TV programme.

An Enlarged Spleen

I would just like to say at this stage that two years before this, Tara's sister Aisling who is five years younger than Tara, was in hospital with tummy problems and Dr Cosgrove discovered she had an enlarged spleen.

On the day when he examined Tara, she also had an enlarged spleen. When he measured her, he agreed she was small for her age. He took blood tests and Xrays. When the results came back, Tara did not have Turners disease.

Just before Christmas that year Tara was taken into hospital for lots of tests. Blood from Tara and Aisling was sent to England. In January 1996 Dr Cosgrove's secretary rang to say he wanted to talk to us. I asked to speak to him on the phone. He told me the results were back and that Aisling and Tara both had Gauchers disease.

Could Not Take It In

I just could not take it in. He went on to say what it was and what it meant. I asked him if it was serious and he said there was treatment available.

The part I could not take in was that two healthy children who were rarely sick suddenly had a disease and would need treatment for the rest of their lives. It took us some time to get used to this news.

Two years later in January 1998, Tara started her treatment. She is doing so well we can hardly believe it. She has much more energy now. She never knew before what it was like to run the length of the playground without stopping or getting tired.

Dr Cosgrove says her spleen has gone back so much it is hard to believe; it was so enlarged. Recently I have started to buy a few mod clothes for her; up until now it was just track suits with elastic waists. Aisling is due to start treatment shortly.

We would like to say thank you to the doctors, nurses and staff of Waterford Regional Hospital for their help and kindness to us at all times. If there is anyone in Ireland with this problem or someone with a child with it, we would love to hear from you.

There are several families in Ireland, both South and North, who have someone with Gauchers disease.

Source: Gauchers News July 1999

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© Copyright Gauchers Association 1999