What is EB?
Epidermolysis Bullosa (EB) is a family of life threatening rare genetic disorders that affect from birth the body’s largest organ: the skin. We had no knowledge of the disease until it was recently brought to our attention by our clients, Joe & Carmel C., whose grandson is unfortunately battling the most serious level of the disease. Ed Skok recently attended an EB Research function focused on current developments and the EB Research team’s vision moving forward to 2030.
EB attacks the skin and the surrounding tissues and organs. Individuals with EB lack critical proteins that bind the skin’s two layers together. Without these proteins, the skin tears apart, blisters, and shears off leading to severe pain, disfigurement, and wounds that may never heal. It makes the skin incredibly fragile and makes every day activities such as eating, sleeping, walking and playing difficult and painful tasks. It is lethal for many that develop the disease. One in 227 people carry the defective gene that causes EB but fortunately most never express the disease.
You can learn more about the disease at https://ebresearch.org.au/. EB Research Partnership Australia is a not for profit that is funding research aimed at treating and ultimately curing Epidermolysis Bullosa.
As discussed on the website, scientists have identified the mutation that leads to EB and believe that they can fix the problem. They also believe that the solution has the potential to be applied to a range of other genetic diseases. However, as the website also makes clear, “the biggest obstacle to curing EB isn’t science – it’s funding”. EB is unfortunately one of those rare diseases that is not well known and does not have the funding to be able to effectively develop treatments.
If you would like to assist in any way, the website has a section for donations and also lists other ways in which you could potentially get involved.
