There are aound 6,000 diagnosed genetic disorders; and it is estimated that one child in every 25 is affected by a genetic disorder. That’s why we want to support the Jeans for Genes campaign, which aims to raise money for Genetic Disorders UK. The money raised provides grants for day-to-day support, equipment, respite and events which bring diagnosed children and their families together.
So what are genetic disorders?
As there are thousands of disorders, it’s impossible to explain them all; so we have focused on a select few to highlight the affects these have on patients and their families, the importance of the healthcare industry and also for Jeans for Genes Day.
Rett syndrome is very rarely seen in males, but about 1 in 12,000 females are affected by the disorder. It is caused by a mutation in the MECP2 gene which is needed for brain development; this abnormality reduces functionality of the brain nerve cells, which consequently results in mental and physical disability. Over 99% of diagnosed cases are spontaneous, which means they are not genetically passed on through generations.
Diagnosing Rett syndrome
Rett syndrome cannot always be diagnosed from birth as the symptoms tend not to appear until the child is between six and 18 months old. It can in fact be that a child builds up certain abilities, such as sounds and grasping, and quickly lose these abilities. A genetic blood test can be used to determine the genetic mutation responsible for Rett syndrome, however failing to find this mutation doesn’t necessarily rule out the disorder.
Managing Rett syndrome
As there is no cure for Rett syndrome, quality treatment is needed to manage the symptoms. This cannot always be carried out by parents and requires the attention of healthcare professionals. Treatments include:
speech and language therapy
eye gaze technology
lower leg brace to aid independent walking
hand splint to help control hand movements
pacemaker to control heart rhythm
Klinefelter syndrome only affects males, affecting around one in every 660 males. This disorder is caused by males being born with an extra X chromosome. Males with Klinefelter syndrome may not realise they have the extra chromosome, but it can cause problems which could require treatment and management. The syndrome isn't directly inherited; it is caused as a result of either the mother's egg or the father's sperm having an extra X chromosome – this change seems to happen randomly.
Diagnosing Klinefelter syndrome
Klinefelter syndrome doesn’t always show obvious symptoms, especially during early childhood. The only way to determine Klinefelter syndrome is through fertility tests – a blood sample will identify the presence of the extra X chromosome. However, subtle symptoms include delayed learning in babies and toddlers, dyslexia and low energy levels during childhood and slower muscle growth in teenagers.
Managing Klinefelter syndrome
Similarly to Rett syndrome, there is no cure to Klinefelter syndrome however treatments can help to reduce symptoms. These include:
testosterone replacement therapy
speech and language therapy
educational and behavioural support
psychological support for any mental health issues
So put your jeans on and help us raise awareness of genetic disorders in the UK and support Jeans for Genes Day.
The information in this blog is for general informational purposes only and not a substitute for professional medical advice. Always consult a qualified healthcare provider for personalised guidance. The author(s) and publisher(s) are not liable for errors or omissions, and reliance on the content is at your own risk.
It’s fair to say that the premise of warm days and the light nights of summer are all but a dist...
As Christmas approaches, somehow, it can seem like you've got a gift list that's not just longer...
Chances are you’ve stumbled on this blog post because, just like us, you need a little bit of in...
As winter approaches and adverse weather conditions such as heavy rain, frosty mornings and occa...
Welcome to Septembers Viewpoint updateThank you to everyone who gave us their much-valued feedba...
Join us at our free online CPD eventAvoidable harm costs the NHS £3 billion annually in compensa...
Ever wondered what pharmacist skills and qualities employers look for during the recruitment proc...
If you’re in the process of applying for jobs as a radiographer, you may be wondering what you’l...