There are about 6,000 known genetic disorders, and it is estimated that one in 25 children is affected by a genetic disorder with approximately 30,000 babies and children newly diagnosed in the UK each year. Some genetic conditions are diagnosed during pregnancy or at birth while others are diagnosed during childhood, or later in life.
Be understanding
Jeans for Genes Day is the annual fundraising campaign for Genetic Disorders UK that supports individuals and families affected by a genetic disorder, and money raised on Jeans for Genes Day helps transform the lives of children with genetic disorders.
This year, Jeans for Genes Day will take place on Friday 21st September (www.jeansforgenesday.org) and ahead of the event, Anna Whaite, Genetic Counsellor at Genetic Disorders UK, discusses the ways you can show your support to someone affected by a genetic disorder:
You don’t need to be an expert in genetics to be supportive
“There are around 6,000 known genetic disorders, and whilst you may have heard of some conditions such as Cystic Fibrosis or Down Syndrome, others are extremely rare and only affect a handful of people worldwide. Genetic disorders can affect people in different ways, some are life changing, visible and sadly affect life expectancy. Others are less extreme but can still affect day to day life. If a friend or family member is diagnosed with a genetic condition find out about what it means by talking to them and doing some research. Charities or support groups can help. But remember they will already have a genetics doctor or genetic counsellor, and what is often needed is a good friend.”
Be understanding
“Like with any health issue, getting a diagnosis of a genetic disorder can be life changing, and it can take up a lot of time and energy to adapt to new information. If a genetic disorder has been diagnosed in your family or friend, trying to be understanding is very important. They may feel distracted, sad, or unable to just get on with things in the same way. Life may become more demanding with extra medical appointments, and it can feel like a bereavement in some situations. A good friend can offer a much-needed listening ear for someone dealing with a diagnosis. Try to also be flexible about making plans together and offer practical support where needed.”
Don’t underestimate someone with a genetic disorder
“It’s important to remember that having a genetic disorder does not define a person. They will still have their own unique personality, interests and skills. The diagnosis may bring extra challenges to their life but don’t underestimate them or make presumptions about what they can do physically or mentally.”
Take care with your words
“Some outdated language about genetic and medical disorders can now be offensive, and other choices of words can be negative such as saying someone ‘suffers’ with a diagnosis. Choose your words carefully and listen to how others speak about their diagnosis or their child’s diagnosis. If you are still unsure, remember it is ok to ask for guidance.”
Family matters
“Sometimes a genetic diagnosis can have implications for other family members too. This can mean health challenges for more than one family member which can be overwhelming and a lot to deal with. Some people want to talk about these things, others come to terms with news like this by themselves. Offering the chance to talk can be helpful but don’t push the issue if someone wants to keep some things private.”
Offer help
“Practical help can be a life line in any difficult situation. Living with a genetic disorder can add extra pressure to an individual, couple or family. Friends and family who can be understanding and offer support can help relieve some of the pressure. Babysitting, helping around the house or with lifts to medical appointments may all be welcome, so don’t be afraid to offer a helping hand.”
Not all genetic disorders are visible
“Remember that some genetic disorders are obvious causing changes in appearance, growth and mobility. Others are different, causing symptoms that are not possible to see from the outside. They may affect internal organs, thinking processes or metabolism. Having an ‘invisible’ genetic disorder can be just as challenging as having one that is easy to recognise.”
It’s personal
“Your genes, and the chromosomes they are stored on, are inherited from your parents. Any genetic diagnosis can impact health and development but can also affect family relationships and how we see ourselves. Some people feel guilty for what they did or did not pass on or inherit. We can’t control what genes we pass on or receive but some people feel responsible, guilty or blame others. Try to be sensitive of this, avoid judgement, and don’t underestimate the power of a listening ear if someone needs to talk.”
Celebrate life
“Don’t forget that life with genetic disorders can be rich and rewarding. Enjoy the good times together and don’t forget to plan ahead and looks for reasons to celebrate. Milestones or other achievements can be marked with friends and family and happy memories created. After a bout of bad health or a series of stressful hospital visits, planning ahead and having family or social activities to look forward to is really important. Lending support when it comes to organising and planning is always greatly received - setting goals for the future and making plans that will facilitate respite and happy memories, is crucial for wellbeing.”
Focus on the positive and get involved
“There are some fantastic sources of support and information available even for very rare genetic disorders. Many of the wonderful patient support groups and charities I work with were started by parents or families affected by genetic disorders. It is truly remarkable how from difficult places some people can find a way to help others. Consider using your time, money or talents to contribute to this work. Remember that medical and scientific research may change what is possible in the future, and don’t forget to wear your Jeans for Genes this year on Friday 21st September!”
Jeans for Genes Day takes place on Friday 21st September. To sign up for your free fundraising pack visit www.jeansforgenesday.org