There are about 6,000 different known genetic disorders in the world. It is estimated that one in 25 children in the UK is affected by a type of disorder, equating to around 30,000 babies and children being newly diagnosed each year. Some genetic disorders are apparent at birth while others are diagnosed at different stages throughout childhood, and sometimes into adulthood.


It is in fact highly likely that every person knows at least one person in their life that has a genetic disorder, yet many people are not aware exactly what a genetic disorder is.





Every September Jeans for Genes run an annual fundraising campaign – (www.jeansforgenesday.org) – which provides grants to organisations and projects that aim to transform the lives of children and families with genetic disorders. Ahead of this year’s Jeans for Genes day on Friday 22nd September, Genetic Disorders UK Genetic Counsellor Emily Clarke, lists the most common genetic disorder myths. Through her work and as someone who has a genetic disorder herself, having been diagnosed with Retinal Dystrophy at the age of 6, Emily has witnessed first-hand how the work of Jeans for Genes helps to improve the lives of those affected by genetic disorders.

Myth #1 Genetic disorders can skip generations.



Fact: They don’t. Some genetic disorders can appear to ‘skip’ a generation if a parent is an unaffected or very mildly affected ‘carrier’ of a certain condition. For example, a parent with Van der Woude syndrome, a condition that affects the development of the face and can cause cleft lip and/or palate, may have a child with very mild or no signs of the condition who then goes on to have a child with significant symptoms.

Myth #2 Having no family history of a genetic condition means that I am not at risk.



Fact: Many genetic conditions occur ‘out of the blue’ without there being any known family history. It may be that by chance both parents are healthy ‘carriers’ of the same recessive genetic condition and have a 1 in 4 chance of passing the condition on to each child they have. In some very rare cases, a genetic disorder can even occur in a child due to a new spontaneous genetic change that has arisen for the first time in them, and has not been inherited from either parent.


Myth #3 The chance that my second child will inherit an altered gene is lower than my first child.



Fact: The chance of passing on an altered gene is the same for each pregnancy, no matter how many children you have or where they are in the birth order.



Myth #4 If doctors identify a genetic disorder early enough, there is a possibility that it can be cured.



Fact: At the present time, there is no treatment that can correct the underlying genetic alteration causing a genetic disorder. However, there are some drugs and other interventions available that can often help ease symptoms and there is also a huge amount of research ongoing to improve treatments and develop new therapies, including gene editing. Support is also readily available to children, families and support networks, through charities such as Jeans for Genes.



Myth #5 Genetic disorders affect females and males the same way, no matter what the genetic condition is.



Fact: Some genetic disorders will affect females and males differently. As females have two X chromosomes and males have one X and one Y chromosome, if there is a genetic change in a gene on the X chromosome a male can develop symptoms where as a female may only have mild symptoms or no symptoms at all. For example, the genetic condition Duchenne Muscular Dystrophy which affects boys.



Myth #6 Genetic disorders are always visible.



Fact: Although some genetic disorders can affect facial features and be physically noticeable, such as Down’s syndrome and Achondroplasia (a form of short-limbed dwarfism), you certainly cannot always tell by looking at someone whether or not they have a genetic disorder. Many genetic conditions are invisible, such as Cystic Fibrosis and Hypertrophic cardiomyopathy, which is a disease of the heart




Jeans for Genes Day takes place on Friday 22nd September.

To sign up for your free fundraising pack visit https: //www.jeansforgenesday.org




Facebook Comments