Four-year-old Freya has a life limiting genetic disorder called Cockayne Syndrome and she is unlikely to live past the age of five.
Whilst most parents of four-year-olds are proudly looking forward to their child’s first day at school, Freya’s parents are visiting hospices, planning their daughter’s funeral and choosing coffins.
Freya is the size of a nine-month-old baby, is deaf and blind and has complex needs. The couple have a son Adam, now seven, who is healthy, but may carry the disorder.
Straight after Freya’s birth in January 2013, doctors spotted several things noticeably wrong. Freya had ingested meconium during the water birth and was facing the wrong way around. Her face was very swollen and bruised. Her head was so small she needed a premature baby hat, even though she weighed 7lb. She had talipes, her shins were turned in so much her toenails were touching.
Mum Emma, 37, from Orpington, Kent, says: “Her face was swollen, she wouldn’t feed either from the breast or bottle. Her head was small and she had problems with her eyesight. We thought she had cataracts which I wasn’t too surprised at as I have a cataract in one eye that was diagnosed too late to do anything about”
When Freya was three-months-old, mum Emma and dad husband, 41, a painter and decorator, found out their daughter was deaf. In March 2013 Freya got her first hearing aids.
“It was on my birthday and I just sat in the car and cried and cried,” Emma recalls. “I didn’t sleep for ten weeks. We had appointments with neurologists, geneticists, ophthalmologists and her cataracts removed in mid-March. Her cataracts were so thick and afterwards we were told she had no internal lenses in her eyes. It meant she was born blind as well as deaf. She still had feeding problems and kept pulling out the nasogastric tube. By the time of her first birthday her weight had dropped down to 7lb – her birth weight. We were feeding her 1oz every hour to try to get her weight up.”
Geneticists took skin samples and the results finally came back when Freya was 16-months-old. The family were told Freya had Cockayne Syndrome which is a very rare, life-threatening and degenerative genetic disorder.
Cockayne Syndrome is characterized by poor growth, failure to thrive, microcephaly, progeria (premature aging), sensitivity to sunlight, moderate to profound developmental and neurological delay and a shortened lifespan. The incidence of CS is less than 1 case per 250,000 live births in the U.S. As of 1992, about 140 cases of CS had been reported in the literature. (rarediseases.org)
Cockayne Syndrome is a hereditary, autosomal recessive disorder. Both Emma and Dean carry the same defective gene, which means each child they have will run a one in four chance of inheriting the disorder. The risk of having a child who is a carrier is 50%. Adam can’t be tested to see if he is a carrier until he is an adult.
Initially Freya was given a prognosis of living 10 months to three years. There are three types of Cockayne Syndrome. The average life expectancy for children with type 2, which Freya has, is five years. Freya is now four.
Emma says: “How do you cope with hearing news that devastating? You get up in the morning and you get dressed. You carry on. Freya is the size of a nine to 12-month-old baby. The only place she is actually four years old is on paper. She can’t sit or walk. She will never shuffle along. She lies in my lap. She is peg feed but can only take 77ml of fluid at a time. Her entire day’s feed is less in volume than a can of coke. She also has a portacath inserted under her arm to administer painkillers.
“Freya has no words and we don’t know how much she understands. We know that she is happy, we know when she is not well and she knows she is loved. I constantly talk to her, even though she can’t hear me and I sing and dance with her. She can feel the vibrations. We do limited ‘on body’ signing – I always kiss her left cheek, Adam kisses her forehead and Dean kisses her right cheek.
“We also use objects of reference – she is given a nappy when being changed, a certain toy when going to the sensory room, a duck when going into the bath and a tiny book before we read. As Freya needs round the clock care she sleeps with us at night. She goes to a complex needs nursery, which she enjoys and it means we get a break.”
Emma adds: “Freya is immune-compromised so we could just pass a child sneezing and within an hour she will be very ill in the intensive care unit. She is like a little time bomb because she is so susceptible to illness but we are enjoying her while she is here. We don’t know how long she will live but we are prepared. We have already planned her funeral, we’ve saved up and we’ve picked out the coffin. We want her to be buried with my mum in Ireland.”
When Freya reaches the end of her life she will be cared for in a hospice and fed with TPM, a medical food that is injected straight into the veins.
Emma and Dean would love to have another child, a sibling for Adam when Freya has passed away. Emma could have pre-implantation genetic diagnosis (PGD) to rule out Cockayne Syndrome but she is not eligible for IVF on the NHS.
“We always wanted at least three children,” Emma explains. “But I couldn’t put Adam through the stress of a new baby along with Freya’s needs.”