Imagine going from being happily pregnant to being told that the baby you are expecting has a rare and life-limiting condition. If your child does beat the odds and survives to be born alive, no-one can tell you with any certainty exactly how they may be affected by the many, sometimes serious, physical and developmental challenges they will likely face. Even worse it cannot be predicted how long your baby will survive after birth.
This is the experience that parents who are expecting a child with Edwards' syndrome (trisomy 18) or Patau's syndrome (trisomy 13) face (Box 1). A diagnosis of trisomy is a turning point for families; their world will never be the same again.
SOFT UK (Support Organisation for Trisomy) was founded in 1991 by two mothers, both of whom had exactly that experience. Their children, one who was diagnosed with Patau's syndrome and survived for 3 months, and one who had Edwards' syndrome and lived until they were 19 years old, were offered very little hope or support.
In the UK, most cases of Patau's and Edwards' syndrome are diagnosed prenatally, through screening of maternal serum marker or detection of sonographic abnormalities (National Congenital Anomaly and Rare Disease Registration Service, 2017). With the introduction of non-invasive prenatal screening, early detection of trisomy 13 and trisomy 18 may increase.
Many parents talk of the feelings of isolation they experience after receiving a diagnosis. They are suddenly faced with incredibly difficult decisions about the future of their pregnancy, with very little certainty upon which to base those decisions. Do they terminate their pregnancy? Do they continue and try to prepare for a likely miscarriage or the impact of caring for a child with potentially serious health challenges? The child may be with them for a very short time or they may have to consider the needs of a child who could have profound, life-long disabilities.
How do they make sense of the complex information and genetic picture that has suddenly become part of the conversation about their child? How do they tell other people? How do they decide what is the right decision for them, their family, and their child? How do they deal with the devastation that occurs if they lose their baby or decide to terminate their pregnancy?
SOFT UK's primary purpose is to ensure families can access information and support when they need it, at whatever stage they are at in their journey and with whatever decision they may make. SOFT UK supports families through pregnancy, when caring for a newborn or older child, and after a loss or termination.
Since its humble origins almost 30 years ago, SOFT UK has grown into a much larger organisation, run by families for families. The majority (90%) of the volunteers and staff team have a link with trisomy within their own families. The organisation can put parents in touch with other families and trained support volunteers who truly understand how new and expectant parents are feeling, and who will share their own lived experience, helping to alleviate the potential isolation that a diagnosis can cause.
An email helpline service is also offered, to answer the many questions that parents and family members have and to signpost them to information sources. SOFT UK seeks to provide the most up-to-date, relevant information, presented in a way that is accessible for both families and the professionals caring for them. The information provided is evidence-based and prepared in collaboration with professional advisors. It is intended to complement the advice of the clinicians who work with individual families.
Despite the well-known infant mortality rates, approximately 50% of babies with Edwards' syndrome live longer than 1 week and 5-10% of children live beyond their first year (Meyer et al, 2016). The major causes of death include central apnoea, cardiac failure as a result of cardiac malformations, respiratory insufficiency from hypoventilation, aspiration, or upper airway obstruction.
SOFT UK works with an increasing number of families with older children who are affected by Edwards' or Patau's syndrome. There is no way of dressing up the harsh facts of a child's diagnosis with trisomy, or their death. But with the support network that families can build through SOFT UK and the care afforded to them by people who share their experiences, they can develop ways to help them cope and celebrate the unique lives of their special children.