On the 1st April 2022 we sadly lost our Nephew Jack to Menkes disease. Jack, along with his mummy and daddy, showed nothing but courage and strength during his battle and we couldn’t be more proud and in awe of them. 

This year Trystan and I will be channelling some of that strength to run the Edinburgh Marathon on the 28th May to raise money for Kindred Scotland, one of the amazing charities that supported my sister and her family during an incredibly difficult time. 

On the 2nd July 2021 we received the devastating news that Jack had been diagnosed with Menkes disease. Before this point we had never heard of Menkes and quickly had to learn about it.

Menkes disease, also known as Menkes syndrome, is a disorder caused by a mutation of the ATP7A gene. This ATP7A gene affects how the body transports copper and maintains copper levels.

Menkes affects around 1 in 100, 000 babies, in particular males. There has been very little research into Menkes therefore there is no known cure. There is a possibility that early treatment with copper (within 28 days of birth) may improve the prognosis in some affected individuals but is not guaranteed. This early treatment requires an early diagnosis which can very be difficult. 

Although an earlier diagnosis may not have changed the outcome for Jack, he may have been able to get the correct care and treatment sooner, making him much more comfortable.

Below are a list of signs and symptoms of Menkes that can vary between individuals. Hopefully by sharing these it may help another child in the future to get that earlier diagnosis. 

• Coarse, thin and, twisted/kinky hair that is light in colour
• Low body temperature (hypothermia) in the newborn period
• Unable to gain weight
• Poor metabolism
• Lack of normal growth (failure to thrive)
• Seizures
• Lack of muscle development
• Poor head control
• Reduced muscle tone (hypotonia)
• Sagging cheeks
• Abnormal development of the sternum and rib cage
• Intellectual disability in older children

The hope of our run is to not only raise money but raise awareness of the signs and symptoms of this awful disease. Thank you for taking the time to read ❤️