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Isabelle's story

At 16 months of age Isabelle was diagnosed with Bloom Syndrome.  Her sun sensitive skin, small size and regular sickness lead to blood tests that confirmed the diagnosis.

 

Isabelle was born full term, but only weighed 1.47kg (3lbs 4oz). The doctors had no idea as to why, since the placenta was fine and physically (other than her size) she was normal.

 

When Isabelle was just four months old, I decided to make the most of a warm, sunny day and take her for a walk. After an hour, she had blisters come up on her lip. I was unsure what it was from, but when I took her to the doctor, I was told that it was a cold sore and nothing to worry about. After two months passed and the blisters had turned into angry scabs that bled when she drank from her bottle, I was confused and frustrated. It was clear that it wasn't cold sores, but nobody could give me any answers. Finally, fed up, I headed to the hospital. The doctors and nurses there were extremely helpful.

 

We were given appointments with immunology, genetics and paediatric teams. After three visits, we were sent home with a suspected diagnosis of Bloom Syndrome.  I looked it up as soon as I got home and the pieces all fell into place. The sun sensitive skin, her small size, why she got sick so often; she was ticking all the boxes. She had blood tests that confirmed her diagnosis when she was 16 months old. 

 

Some of the major impacts of Isabelle’s rare diagnosis means she is unable to go into the sun. We are at the hospital multiple times a month to see different specialist teams. Lastly, due to complications with Isabelle’s rare disease, she cannot attend day-care.

Isabelle can't play outside, so I try and bring outside, inside. Since she can't play in small spaces with lots of kids, I take her to gymnastics once a week so she can still interact, but is less likely to get sick. I'm aiming to eventually have an area indoors that could act like a small gymnastics area at home so that she is indoors but still occupied and stimulated.