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Living with total parenteral nutrition (TPN) at home

Daisy was born with severe gastro-intestinal issues and was later diagnosed with a rare genetic disorder known as Costello syndrome. Her mum, Stephanie, talks about how she learnt how to administer total parenteral nutrition (TPN) so Daisy can enjoy life at home.

Photo of Daisy with mum Stephanie
Daisy with mum, Stephanie

"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. 

"At 29 weeks, I had polyhydroamnios, where there is too much amniotic fluid in the womb. I was hospitalised and given steroids to strengthen the baby’s lungs. The doctors also drained away some of the fluid to prevent premature labour. 

"After three weeks in hospital, Daisy was born just before Christmas. She was huge for a premature baby (because of the fluid) and was taken straight to the neonatal unit.  However, she soon started to lose weight and 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 (GOSH)

"Daisy was discharged from the neonatal unit after two months, but we were only home for a few weeks. She was rushed back to hospital and transferred immediately to 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, Daisy was transferred back to our local hospital where she stayed for another couple of months to try and gain weight. We learned that she had issues with her airway, vision problems (she is registered as partially blind), a heart condition and severe gastro-intestinal problems. 

"Daisy had a gastrostomy tube inserted in her tummy to receive feeds via a pump. But she vomited continuously and was permanently in pain.  Andy and I spent our days attending hospital appointments, giving her meds, clearing up sick, washing her and dealing with the feed pump. We had to manage all of this on top of looking after three other children and, in Andy’s case, a demanding career.

Costello syndrome

"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, and is caused by a mutation on an oncogene (a gene that can contribute to transforming normal cells into cancerous cells).

"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. Costello syndrome is a life-limiting condition and the prognosis for each child is unknown. 

"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. Daisy is also a non-typical Costello child, with such severe gastro-intestinal issues that she now has intestinal failure.

Total parenteral nutrition (TPN)

Photo of Daisy
Daisy enjoys going to school and playing with her friends

"When Daisy was three, she developed aggressive pancolitis. Her entire gastro-intestinal tract (from her oesophagus through to her rectum) was inflamed, and her gut was deemed unfeedable. She was started on total parenteral nutrition (TPN), where vitamins, minerals and lipids are delivered directly to the blood, bypassing the gastro-intestinal 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, under the supervision of the Intestinal Care Nurse Specialists, 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.

"Daisy has also had several major operations, including the removal of her large colon and large bowel. Her pain is complex, multi-factorial and difficult to manage. We have to give her a daily cocktail of drugs to help her manage, and she also has daily intravenous antibiotics to keep the bugs which colonise her system at manageable levels.

"For all of us, including Daisy’s older brothers and sister, GOSH is like a second home. Daisy has been a patient of various teams, and we still regularly attend nutrition clinics. We’ve got to know other families over the years and we have many friends there, both staff and patients.

"During the week, we’re always able to contact the Intestinal Care nurses for advice and support. There’s also a closed online user group, Patients Know Best, for home TPN families.

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.

"It’s likely that Daisy either has an unidentified second syndrome that caused her intestinal failure, or the gene mutation that is part Costello syndrome caused mitochondrial disease that in turn affected her gastrointestinal system.

"Whatever happens, having spent so much of her life in hospital, all we want now is for Daisy to have fun and enjoy quality of life and time at home with her family. Thanks to being able 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."

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