According to the U.S. National Library of Medicine, Trisomy 13, or Patau syndrome, is a chromosomal abnormality caused by an extra copy of chromosome 13 in every cell. The condition occurs in only one in 16,000 live births and causes multiple congenital abnormalities. Tragically, 90% of babies with the condition die within the first five days of their lives.
In Northern Ireland, Kerrie and Stuart Cartmill gave birth to a son with Trisomy 13 but miraculously, he recently celebrated his first birthday. The Daily Mail reports that Matthew Cartmill has spent the last 170 days in the hospital with medical appointments each day. However, his parents have been by his side the entire time and Kerrie even gave up her job as a schoolteacher to care for her son.
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She said, “We’ve all had such a tough year and Matthew has spent nearly half of his life in hospital. But we are now looking to give him more stability and a routine at home.” She added, “Our plans as a family have changed as we give Matthew every bit of our time and energy. We don’t know what the future holds, we just take every day as it comes.”
Prior to Matthew’s arrival, not only did Kerrie and Stuart refuse abortion but they also refused genetic testing because of the risk of miscarriage. They said that whatever the outcome, nothing would change their mind about their baby. Matthew was born via emergency Caesarean section and was rushed for genetic testing when he was two-days-old. Kerrie said, ‘We were terrified when we got the results back as doctors didn’t really explain what it meant for Matthew.’
For the first year of his life, Matthew saw pediatricians, neurologists and dietitians almost every day. He still has daily appointments, which can sometimes be with a specialist, or for physiotherapy, speech therapy or sensory play.
He is currently on a respiratory monitor to check his breathing, and is taking medication for seizures, iron deficiency and acid reflux.
He also suffers from a defect to his optic nerve, which causes problems with his vision, and he has regular eye appointments. But despite his ongoing medical problems, he is one of only 5 to 10 per cent of children with the condition to live past their first year. The condition is so rare doctors do not know what the prognosis will be for the future, but stress that the disease is severely disabling.
But Mr and Mrs Cartmill are determined to prove everyone wrong, and say Matthew is growing in strength all the time.
She said: ‘He’s our superstar. He is developing his own personality now and is so much fun to be around. ‘Now Matthew has reached one we just want to cut down the travelling round the country and give Matthew a better quality of life.’
The family has been overwhelmed by the outpouring of love and support from the community and has started fundraising for sensory toys to aid his development. They are hoping the toys will add much needed normality to Matthew’s life and give him something to look forward to.