Understanding CHARGE
JOHN ANGERSON / SENSE
Nurses who encounter children with the rare genetic condition CHARGE could easily feel out of their depth. Now expert advice is at hand, says Jennifer Trueland
There is just one message that former health visitor Barbara Moore would like to get across to clinicians caring for children with the rare genetic condition CHARGE. ‘Do not compare children with CHARGE – they can be completely different,’ she says. ‘Sometimes people will think that because they have seen a child with CHARGE previously they know about it, but these children are individuals and face their own individual challenges.’ The condition can affect different parts of the body, with a range of physical manifestations.
These can include sight and hearing difficulties, as well as problems with the heart, breathing and growth. It is believed that about half of all cases of CHARGE are due to a genetic mutation, and children may take longer to meet their developmental milestones. Healthcare professionals rarely come into contact with children and young people who have CHARGE, and there has been little in the way of resources to help them care for these patients. That changed in November, however, when the national
Do not be afraid to ask for advice, says Gail Deuce, pictured with ten-year-old Adam Howarth
deafblind charity Sense launched a free information pack (www.sense.org.uk/ content/charge-informationpack-practitioners) for health and social care practitioners.
Guidance
Ms Moore is a registered nurse who worked as a health visitor for 11 years. She is now a children and family support worker in children’s specialist services with Sense, and wrote the pack’s guidance for health visitors. Sense principal multi-sensory impairment (MSI) consultant Gail Deuce says: ‘When we
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‘LISTEN TO PARENTS – WE KNOW WHAT WE’RE TALKING ABOUT’ As the mother of a child with complex needs, Lydia Howarth has become good at prioritising. ‘You have to think “I have got three appointments this week – which do I really have to do?” You have to pare it down.’ Ms Howarth, a former social worker, has three children: Ethan, 11, Adam, ten, and Lara, who will be two in February. Adam (pictured) has CHARGE, a rare condition which, in his case, has resulted in feeding and swallowing issues, breathing problems and multi-sensory impairment. ‘That means all the senses, including taste,’ says his mother. Adam is a resilient child, she says, who takes his condition in his stride
SUMMARY
consulted on what was needed, one particularly strong message was that we should produce a factsheet for health visitors. They are often the healthcare professionals who know the family prior to diagnosis and they will be looking at the family as a whole. ‘Health visitors will be able to assess whether the families are coping or if they need extra support. They will know, for example, whether a mother has had problems coping previously.’ Babies born with CHARGE can have great difficulty feeding and sleeping, and often have to be hospitalised for long periods. This can make it difficult for parents to bond with their baby, increasing the risk of postnatal depression. Again, the health visitor is ideally placed to spot this and to assess whether extra help, such as medication or
because that is the way life has always been for him. But CHARGE has resulted in constant healthcare involvement for him and his family, from birth onwards. Ms Howarth was not able to hold Adam for five weeks after he was born because he was so unwell. ‘I could not do the things that you want to do for your child, and I did not have that experience of taking him home from hospital,’ she recalls. ‘But I do know Adam, and I know about his condition. And as parents we know our child and we have a tremendous breadth of knowledge of the condition. Yes, there is CHARGE, but Adam is Adam, and health professionals should listen
to parents and accept that we know what we are talking about.’ Adam has been treated at London’s Great Ormond Street Hospital, but has also spent time in local district general hospitals. Ms Howarth believes that the CHARGE pack for healthcare professionals will be particularly useful for those working in generic settings, most of whom will have no experience of caring for children with CHARGE. Indeed, she is making use of it herself. ‘Adam has to see a new psychologist so I could take the relevant pages and say “this is what you need to know; this is my starting point”. It is an amazing resource and I wish it had been around when Adam was born – it would have made life much easier.’
talking therapies, might be beneficial. Short breaks or respite care might also be indicated. The pack’s advice for health visitors includes specific ‘things to think about’. These include whether siblings need extra support, whether parents have a support network and if the family is facing financial difficulties.
HAVING A HEALTH VISITOR FOR SUPPORT CAN BE HUGELY HELPFUL TO FAMILIES
Children and young people with the rare genetic condition CHARGE can have complex and serious problems that nurses may know little about. A new guidance pack produced by the charity Sense includes valuable information that will help nurses, particularly health visitors, support these families. Author Jennifer Trueland is a freelance journalist
It is important to pay particular attention to hygiene as children with CHARGE are vulnerable to infection. There are also suggestions for positive things that health visitors can do to help families, including offering to phone regularly, liaise with the hospital about the child’s condition, and visit the family on discharge. Developmental checks and weigh-ins may be inappropriate, because milestones will be different for each child with CHARGE. But, Ms Moore says, such checks can be convenient ‘excuses’ to contact the family and make sure everything is going well.
The guidance also has some ‘don’ts’ including ‘don’t be afraid to act as advocate for the family’. ‘Sometimes there can be as many as 19 professionals talking to the family, at a time when they have a child who is not very well. Having a health visitor for support can be hugely helpful,’ says Ms Moore. However she warns that health visitors should not be offended if the family asks them not to visit. ‘These families have so much contact with health professionals that sometimes they do not want to wait in for yet another appointment,’ says Ms Deuce. She points out that children with CHARGE spend a high proportion of their lives in hospital. By the age of three, they are likely to have been hospitalised 6.8 times on average, with a cumulative length of stay of 192 days. The CHARGE pack does not have information aimed specifically at hospital nurses, but Ms Deuce says the general factsheet on the syndrome is a good place to start. ‘Do not be afraid to ask for advice,’ she says. ‘There is support out there’ NS
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JOHN ANGERSON / SENSE
Nurses who encounter children with the rare genetic condition CHARGE could easily feel out of their depth. Now expert advice is at hand, says Jennifer Trueland
There is just one message that former health visitor Barbara Moore would like to get across to clinicians caring for children with the rare genetic condition CHARGE. ‘Do not compare children with CHARGE – they can be completely different,’ she says. ‘Sometimes people will think that because they have seen a child with CHARGE previously they know about it, but these children are individuals and face their own individual challenges.’ The condition can affect different parts of the body, with a range of physical manifestations.
These can include sight and hearing difficulties, as well as problems with the heart, breathing and growth. It is believed that about half of all cases of CHARGE are due to a genetic mutation, and children may take longer to meet their developmental milestones. Healthcare professionals rarely come into contact with children and young people who have CHARGE, and there has been little in the way of resources to help them care for these patients. That changed in November, however, when the national
Do not be afraid to ask for advice, says Gail Deuce, pictured with ten-year-old Adam Howarth
deafblind charity Sense launched a free information pack (www.sense.org.uk/ content/charge-informationpack-practitioners) for health and social care practitioners.
Guidance
Ms Moore is a registered nurse who worked as a health visitor for 11 years. She is now a children and family support worker in children’s specialist services with Sense, and wrote the pack’s guidance for health visitors. Sense principal multi-sensory impairment (MSI) consultant Gail Deuce says: ‘When we
26 january 22 :: vol 28 no 21 :: 2014 NURSING STANDARD Downloaded from RCNi.com by ${individualUser.displayName} on Nov 13, 2015. For personal use only. No other uses without permission. Copyright © 2015 RCNi Ltd. All rights reserved.
‘LISTEN TO PARENTS – WE KNOW WHAT WE’RE TALKING ABOUT’ As the mother of a child with complex needs, Lydia Howarth has become good at prioritising. ‘You have to think “I have got three appointments this week – which do I really have to do?” You have to pare it down.’ Ms Howarth, a former social worker, has three children: Ethan, 11, Adam, ten, and Lara, who will be two in February. Adam (pictured) has CHARGE, a rare condition which, in his case, has resulted in feeding and swallowing issues, breathing problems and multi-sensory impairment. ‘That means all the senses, including taste,’ says his mother. Adam is a resilient child, she says, who takes his condition in his stride
SUMMARY
consulted on what was needed, one particularly strong message was that we should produce a factsheet for health visitors. They are often the healthcare professionals who know the family prior to diagnosis and they will be looking at the family as a whole. ‘Health visitors will be able to assess whether the families are coping or if they need extra support. They will know, for example, whether a mother has had problems coping previously.’ Babies born with CHARGE can have great difficulty feeding and sleeping, and often have to be hospitalised for long periods. This can make it difficult for parents to bond with their baby, increasing the risk of postnatal depression. Again, the health visitor is ideally placed to spot this and to assess whether extra help, such as medication or
because that is the way life has always been for him. But CHARGE has resulted in constant healthcare involvement for him and his family, from birth onwards. Ms Howarth was not able to hold Adam for five weeks after he was born because he was so unwell. ‘I could not do the things that you want to do for your child, and I did not have that experience of taking him home from hospital,’ she recalls. ‘But I do know Adam, and I know about his condition. And as parents we know our child and we have a tremendous breadth of knowledge of the condition. Yes, there is CHARGE, but Adam is Adam, and health professionals should listen
to parents and accept that we know what we are talking about.’ Adam has been treated at London’s Great Ormond Street Hospital, but has also spent time in local district general hospitals. Ms Howarth believes that the CHARGE pack for healthcare professionals will be particularly useful for those working in generic settings, most of whom will have no experience of caring for children with CHARGE. Indeed, she is making use of it herself. ‘Adam has to see a new psychologist so I could take the relevant pages and say “this is what you need to know; this is my starting point”. It is an amazing resource and I wish it had been around when Adam was born – it would have made life much easier.’
talking therapies, might be beneficial. Short breaks or respite care might also be indicated. The pack’s advice for health visitors includes specific ‘things to think about’. These include whether siblings need extra support, whether parents have a support network and if the family is facing financial difficulties.
HAVING A HEALTH VISITOR FOR SUPPORT CAN BE HUGELY HELPFUL TO FAMILIES
Children and young people with the rare genetic condition CHARGE can have complex and serious problems that nurses may know little about. A new guidance pack produced by the charity Sense includes valuable information that will help nurses, particularly health visitors, support these families. Author Jennifer Trueland is a freelance journalist
It is important to pay particular attention to hygiene as children with CHARGE are vulnerable to infection. There are also suggestions for positive things that health visitors can do to help families, including offering to phone regularly, liaise with the hospital about the child’s condition, and visit the family on discharge. Developmental checks and weigh-ins may be inappropriate, because milestones will be different for each child with CHARGE. But, Ms Moore says, such checks can be convenient ‘excuses’ to contact the family and make sure everything is going well.
The guidance also has some ‘don’ts’ including ‘don’t be afraid to act as advocate for the family’. ‘Sometimes there can be as many as 19 professionals talking to the family, at a time when they have a child who is not very well. Having a health visitor for support can be hugely helpful,’ says Ms Moore. However she warns that health visitors should not be offended if the family asks them not to visit. ‘These families have so much contact with health professionals that sometimes they do not want to wait in for yet another appointment,’ says Ms Deuce. She points out that children with CHARGE spend a high proportion of their lives in hospital. By the age of three, they are likely to have been hospitalised 6.8 times on average, with a cumulative length of stay of 192 days. The CHARGE pack does not have information aimed specifically at hospital nurses, but Ms Deuce says the general factsheet on the syndrome is a good place to start. ‘Do not be afraid to ask for advice,’ she says. ‘There is support out there’ NS
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