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.
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
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.
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
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.
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.