It took two years for us to get Ethan's diagnosis of ARX (Aristaless Related Homeobox), a rare genetic disorder. The ARX gene provides instructions for producing a protein that regulates the activity of other genes. This condition affects Ethan's development and at the age of 6 is still at the developmental level of a 6 month old in most areas.
The symptoms (scientists use the word Phenotypes, it's the posh word) of ARX are fairly straight forward and can be found in a variety of other conditions or can even present themselves on their own. In Ethan ARX presents mainly with hard to control seizures.
What is more difficult is understanding ARX itself. We have provided below a couple of links to some of the medical background to the disorder, which is an interesting read, but will test your brain with lots of medical jargon. Suffice to say that the mutation of the ARX gene has been shown to contribute to almost all fundamental processes of brain development.
It is incredible how such a minor change in the embryonic development can cause such a drastic change in both the mental and physical development of those with the disorder. But what we find even more incredible is how Ethan has managed to overcome so many of the hurdles that come with such a life-limiting disorder. There have been points where we have thought we may not even be able to bring him home, that the disorder might have won.
We are still not sure on Ethan's life expectancy, but we are determined, and so is Ethan, not to let it get in the way of living a happy and full life. We are utilising some of the latest in medical technology and are utilising many disability aids in order to help make his life better.
Without getting technical, there's not much more we can say in regards to ARX, so we will leave you to read up on it for yourself.
If you have had any experience with ARX or something similar, we would love to hear from you, please do Get In Touch.
Also if you have a child who expects to face a short life, we really do encourage you to check out Our Linked Charities page, we have been so blessed by their work and would love to see more children benefiting from the great services that they provide.