A new way of life

Posted by: Daisy's mum Stephanie
7th June, 2012

Andy and I were over the moon when I found out I was pregnant with our fourth child but, from the outset, things didn’t feel the same as with my other pregnancies.

When Daisy Rose was born she had huge problems feeding.  She had lots of genetic tests but they all came back negative. However, the geneticist thought she showed signs of Costello Syndrome, a very rare disorder, for which there was no test at the time. We were told we just had to wait and see.

Transferral to Great Ormond Street Hospital

After two months on the neonatal unit, we were only at home for a few weeks before Daisy was rushed back to hospital and transferred immediately to Great Ormond Street Hospital (GOSH) with a suspected malignant tumour. Fortunately, further tests found she didn’t have cancer but her condition continued to worsen and she was rushed to the intensive care unit with respiratory collapse.

After two long months at GOSH, and two more at our local hospital we learned that Daisy had issues with her airway, vision problems (she is registered as partially blind), a heart condition and severe gastro-intestinal problems. Andy and I hit rock bottom as things got worse and worse.

Confirmed diagnosis

That summer, we received a letter from the geneticist telling us that a test had been developed for Costello syndrome. Daisy had tested positive.  Costello syndrome is very rare, affecting less than 300 children worldwide.

Daisy’s diagnosis meant she had a 17 per cent increased risk of developing a cancerous tumour, heart problems, feeding problems, bone problems and endocrine problems. Having a child with Costello syndrome is like being a plate spinner in the circus, no sooner have you sorted one issue than another crops up.

Total parenteral nutrition (TPN)

When Daisy was three, she was started on total parenteral nutrition (TPN), where vitamins, minerals and lipids are delivered directly to the blood, bypassing the gastrointestinal system.

Administering TPN requires specialist training to minimise the risk of infection. Andy and I were committed to being trained so we could bring Daisy home from hospital and be a family again. We were referred to the nutrition team at GOSH and learnt how to set up and disconnect the drip, draw blood, store the bags of fluid and ancillaries correctly and what to do in an emergency.

Every night, Daisy needs to have two litres of TPN fluid, and is connected to the drip for 15 hours. It’s certainly not how I expected to feed my daughter when she was born, but it does keep her out of hospital and at home with her family.

Life at home

Life is very different with a TPN-dependent child, but we make it work for the whole family.  We moved Daisy’s bedroom downstairs so that even when she is on her drip, she’s still involved in family life. With the support and advice of the nutrition team at GOSH, we’ve even managed to go on holidays, something we didn’t think would be possible when Daisy’s condition worsened.

Thanks to the support we receive from GOSH to manage her care at home, she is able to enjoy life as a little girl, go to school and play with her friends. We don’t know how much time we have with her but we are determined to make every minute of the time we do have count.

Read more stories from patients and parents at Great Ormond Street Hospital on our blog or find out how you could raise money to help children like Daisy.