“We couldn’t call our baby anything other than Hope,” Beth, from Aldershot, Hampshire
The charity SOFT UK provides support and information for families of children with the genetic conditions Trisomy 13 (Patau’s syndrome) and Trisomy 18 (Edwards’ syndrome). Children with these conditions have three copies of the 13 or 18 chromosomes instead of two, and the majority do not live past infancy. SOFT UK received a grant this year from fundraising for Jeans for Genes.
Finding out during pregnancy that your baby has a life changing trisomy condition, and may not survive the birth, is heart-breaking for parents-to-be. Instead of excitedly picking out a cot and nursery furniture, new parents with a trisomy 13 or 18 diagnosis, often face discussions on termination, birth plans for a still birth, hospice, and end of life care. Some babies (with a partial genetic change) defy the odds and survive, but the majority of babies do not live past the age of one.
The charity SOFT UK is a lifeline for parents and their extended families, supporting them from screening and diagnosis through to day-to-day life and bereavement. The charity provides digital information, support groups, a helpline, and a family day.
Beth Atherton and husband Paul, a GP, are one couple that turned to SOFT UK during Beth’s third pregnancy, when doctors told them their unborn baby Hope was unlikely to survive.
“It never occurred to us we could have problems,” says 37-year-old Beth, from Aldershot, Hampshire. “My 20-week scan showed the baby was small and had an echogenic bowel, it appeared brighter than usual, which can sometimes be an indicator of a health problem. Blood tests showed a 95% chance of the genetic condition Trisomy 18 also known as Edwards’ syndrome. A doctor told us our baby would be too small to survive and to prepare for a stillbirth. It was all very negative. We were offered a termination, but for us this was not an option.”
More detailed scans followed and showed their daughter had a cleft palate, pulmonary stenosis, which is a heart valve problem, and her growth was below the chart. There were no other serious markers.
“Straight away I contacted the charity SOFT UK,” Beth says. “I spoke to other people on the Facebook group and joined the monthly Zoom calls for expectant parents. Being able to ask questions and share stories was so helpful. It was a place to debrief and talk it all through, as very few people would understand and be able to talk about it. I had help writing a birth plan in case of a stillbirth, so that you feel as a parent you still have some control.
“We got in touch with a hospice in Guildford to discuss end of life care. On visiting the hospice, we were shown their tree of remembrance. I couldn’t think of my baby’s name on the tree. I was holding out hope that she would be in the 10% of babies with Edwards’ to live longer.”
In February 2022 Hope was born three weeks early, via caesarean section as doctors believed she wouldn’t survive labour. Beth had a photographer ready to take photos before the expected transfer to a hospice. But Hope was born pink, healthy, breathing by herself and crying. She did not have a cleft palate or heart murmur as expected. She was small, weighing 3lb 14oz. Her placenta, however, was not as expected.
Genetic testing showed Hope does not have the full form of Edwards’ syndrome, moreover a mosaic form which was confined to the placenta. Unfortunately, the placenta wasn’t kept for testing.
Beth says: “We always had hope that it wouldn’t be the worst-case scenario – that’s why we named her Hope. I made all the plans to prepare for the worst, but emotionally I wasn’t going to go there. Things were much more positive and better than anyone could have expected. The reality for most people is a different outcome. I feel we are one of the lucky ones.”
Beth adds: “The geneticist wants to see Hope at around four months old, but we may never find out if she has any level of mosaicism. She is doing so well. Still small, at 7lb, but she is feeding well, engages with us and is much loved by us and her siblings. The most amazing thing was when she started to smile around eight weeks old. I was changing her nappy, looked up at her face and she was beaming at me. It was like she was saying ‘you’re my mummy’, she recognised me. It was a really heart-warming and beautiful moment. She has the most wonderful smile. She is definitely making her personality known, she is sweet and easy going. We feel very positive about the future.”
Shaun Dowdall, SOFT UK’s Operations Manager, explains how trisomy genetic conditions are so rare that a diagnosis can leave families feeling isolated and overwhelmed.
“Families are told by the NHS that their child is one a million, it is so rare,” Shaun says. “During the pandemic, we had mums in hospital, receiving a diagnosis alone, having to make decisions about who will see their baby before they die. It has been an isolating time for the families, and we have seen overnight respite and care fall away. SOFT UK runs a support line, matching families with a volunteer who has been through that experience.
“We host monthly calls with families, right from when they are expecting a baby, to build relationships and support each other. It gives a safe outlet for people to talk and it means families don’t feel alone. We also support grandparents, so they can talk it through and share emotions. We host a family day once a year where families share experiences, information and resources. Meeting again face to face again has been so important. They can also hear from Dr Martin McCaffrey, a neonatologist from the University of North Carolina, USA , who is an expert in Trisomy 18.”
The grant from Jeans for Genes, made possible by our fantastic fundraisers, has been used to roll out digital packages to cover a wide range of topics, including new diagnosis, bereavement, siblings, parents and grandparents.
“We provided welcome packs and all information for new parents to read,” Shaun adds. “It gives parents back a little bit of control, over something that is not in their control.”
Trisomy 13 and 18 are very rare genetic conditions which usually have a short life expectancy. Every cell in our body is made up of 23 pairs of chromosomes, but a baby with Trisomy 18 (also known as Edwards' syndrome) has three copies of chromosome number 18, instead of two. Babies with Trisomy 13 (Patau’s syndrome) will have three copies of chromosome 13.The presence of this extra chromosome in cells disrupts a child’s normal growth and development. Trisomy 13 and 18 births occur about once in every 1,800 pregnancies and are the most common autosomal trisomies after trisomy 21 (Down syndrome). These chromosome conditions are usually one-off events. They are screened for at 12 weeks of pregnancy.Children with Trisomy 18 may have heart, kidney and eye problems, bone abnormalities such as a curved spine, severe learning disabilities, hand and feet abnormalities, petite features and a condition where the intestines are held in a sac outside the abdomen. The symptoms, and how seriously a baby is affected, usually depend on whether they have full, mosaic, or partial Edwards' syndrome. For those severely affected it is life limiting.
Visit the SOFT UK website: https://www.soft.org.uk/