Not many people have heard of CDH, never mind know what it stands for, but for most that have, it is set of three letters that they will never forget and for some, will change lives and turns them upside down.
CDH is short for Congenital Diaphragmatic Hernia, but this is no ordinary hernia. It develops in the womb and has no known cause. Treatment remains medically challenging and takes the lives of many babies born with it.
What is CDH?
CDH is short for Congenital Diaphragmatic Hernia. It is a birth defect affecting the diaphragm, which is a thin sheet of muscle that separates the chest from the abdomen. The defect occurs during the first vital weeks of fetal development in the womb.
At around 11 weeks the diaphragm has normally developed, but for reasons currently unknown, in some pregnancies the diaphragm fails to form correctly or fuse completely and results in a hole either on the left or right side of the diaphragm, or sometimes on both sides of it.
Facts and figures
CDH affects 1 in 2500 live births and has a high mortality rate. Statistics show that the current overall survival rate for CDH is around 50% and this has not shown much sign of improvement. CDH occurring on the right side and with the liver ‘up’, or occurring with another anomaly or chromosomal problem tends to have an even poorer outcome.
How is it diagnosed?
CDH is picked up at the 20 week routine anomaly scan in around 60% of cases and some are picked up later on in pregnancy or immediately after birth. A small percentage is picked up later in infancy and very rarely into adulthood.
Is a CDH pregnancy different from a normal pregnancy?
Any pregnancy involving a birth defect is classed as high risk, but apart from extra scans and the option of a test called amniocentesis, which involves taking a small sample of the amniotic fluid surrounding a baby to test for other possible abnormalities, the pregnancy is no different in terms of antenatal care. Mum may develop polyhydramnios as the pregnancy develops, which is a marked increase in amniotic fluid, but this is not uncommon in a pregnancy involving a birth defect and will be closely monitored and treated if necessary by medication or drainage. There may also be limits to any birth plan requested, but your midwife or Consultant can advise and help with this. It is however a scary time for parents and adequate counselling at diagnosis and support throughout pregnancy is important.
There is an experimental therapy called FETO, which involves placing a tiny balloon in the baby’s windpipe whilst still in the womb, to plug it in an attempt to force the lungs to grow. This is currently undergoing a randomised trial, which means cases that fit the trial criteria are picked at random to participate.
Why is CDH life threatening?
Because of the hole in the diaphragm, the contents of the abdomen that are normally contained below the diaphragm can go up into the chest cavity, which prevents the lungs from developing properly and can push the heart, windpipe and gullet over to the wrong side of the chest cavity. How much the lungs and heart are affected depends on how early the abdominal contents herniate up and what and how much. Babies born with CDH struggle to breath at birth and are treated as a medical emergency. They require a specialised team of Doctors and nurses present at the birth to treat them immediately and to put them onto an artificial ventilator. They will then require treatment in a neonatal intensive care unit with experience of treating CDH, to try and stabilise them with a view to repairing the defect in the diaphragm. Some babies may benefit from a therapy called ECMO which is a type of heart, lung bypass machine, available in only 4 specialist units in the UK, that can help in certain cases where normal methods of ventilation fail. CDH babies are some of the sickest babies in NICU and can face many complications and setbacks and an uncertain future. Treatment and recovery can take from a few weeks to months or in severe cases even longer. Some babies are sadly too sick and their lungs too under developed to survive.
Ongoing issues for survivors
Some survivors will experience no lasting problems and have nothing other than a scar, whilst some will experience mild to moderate ongoing issues, such as asthma, reflux and mild food aversions. Some on the other hand may experience ongoing problems such as chronic respiratory issues, lung disease, heart problems, severe reflux, feeding and growth problems, sensory issues, hearing problems, chest and spine deformities, and kidney and bowel problems and in some cases developmental delays or oxygen dependency.
How CDH UK Helps
CDH UK is a registered UK charity that supports families and medical professionals by providing information, advice and support through various resources and media. We offer financial help with the costs associated with having a sick child in hospital and once home, through schemes we operate and that are funded by voluntary donations. We also raise awareness of the condition constantly, but June is officially CDH Awareness month and 28th June is Awareness day.
CDH UK offers ongoing support to families expecting, raising children and those who are bereaved, through a Freephone supportline, online peer support groups and family Get Togethers.
For those families who sadly have to cope with the death of their baby or child, CDH UK can offer professional bereavement counselling and in some cases can help with funeral costs.
Another focus for CDH UK is on improving outcomes for babies, children and adults born with CDH and this is achieved by encouraging and promoting research and study and by working with the NHS and other agencies including third sector organisations. Our philosophy is that we can and we will make a difference, ensuring that no family has to face CDH alone.
If you would like to donate to CDH UK, please do so here.