I met Daniel at the RARE Summit, where we discussed how we can use social media to shorten the time that it takes for an undiagnosed rare disease patient to become aware of their disease. Daniel works in TV and film production and had just made a documentary about his son, Lucas, who has Menkes Disease (link). November is Menkes awareness month, and he and the Menkes Foundation (link) are focused on raising awareness and funding research to increase early detection of Menkes disease.
Children born with Menkes disease cannot absorb copper through their intestines. Since copper is essential for the development of the brain and other tissues, these children are unable to develop basic motor and mental functions. Typically, children are diagnosed as they begin to miss developmental milestones around 4 months of age. At this point, however, it is too late to overcome much of the damage that their copper deficiency has caused.
The earlier that Menkes disease is diagnosed, the better the prognosis can be for these children. There is a critical window of 10 days during which, if the patient begins receiving copper infusions, they may live relatively normal lives. However, too many children are diagnosed well after this critical window. As such, it is important that we raise awareness to get children that exhibit symptoms of Menkes to a genetic counselor as soon as possible.
The current tests that could screen for Menkes are more complex than most new born screenings, and they are usually only performed when there is family history of Menkes disease. If a test is not performed, it is important that parents and physicians raise a red flag if they notice the hallmark symptoms of Menkes: Kinky Tangled Pale or Gray Hair, a cherubic face (low bridged nose, chubby cheeks), sagging facial features, seizures, low muscle tone, Feeding and Sleeping Difficulties.
We can use the WeHealth platform to raise awareness for Menkes by getting YOU involved in getting the Menkes warning signs shared on social media. Getting earlier diagnoses can help them to live happy, healthy lives. We are working with Daniel and the Menkes Foundation team to organize an awareness campaign with WeHealth and will keep you posted when we launch.