Rare Disease Day 2021

Today is Rare Disease Day, a day dedicated to raising awareness about rare diseases and their impact on our lives. 

There are 300 million people worldwide living with a rare disease, and approximately 25,000 people in the United States living with Epidermolysis Bullosa (EB).

Nicky has the most severe form, called Generalized Severe Recessive Dystrophic form (RDEB-sev gen). He was born with it, basically his body does not make a protein called “Collagen Type VII” which is responsible for holding the layers of skin together. Without this protein his skin tears off and blisters extremely easily leaving behind 2nd degree burn-like wounds which need to be bandaged to allow healing.

RDEB is rare. according to the NIH there are only about 1100 cases in the United States, and that have Nicky’s subtype (Generalized Severe) is somewhere between 150-250 nationwide in the United States.

How is Nicky doing?
Unfortunately the areas of constant rubbing or with joints, such as knees, armpits, elbows, wrists and ankles are a disaster to put it mildly. His knees have been open wounds since he was one year old. He itches uncontrollably, is in a lot of pain, and his bandages need to be changed very often, we usually change ‘something’ every day. These bandage changes are very painful, and Nicky needs heavy pain medication to get through it.  Nicky has a g-tube, meaning he gets his nutrition via a tube in his stomach, I give him about 4 cans of Nutren 2.0 overnight and he drinks and eats mushy stuff during the day. His esophagus is compromised and it blisters and shrinks so he has to be careful. Every so often I have to take him to have surgery to get his throat enlarged. He also gets iron/blood infusions once a month at CHLA (Children’s Hospital of Los Angeles). His fingers and toes web and contract, and he’s in a wheelchair/powerchair when we have to go anywhere because no matter how much I pad his feet, they hurt too much to walk on them. They are extremely sensitive.

The problem with patients with RDEB is that time is not their friend. Children can die anytime from infections, and as they grow older and in their teen years they have to worry about skin cancer and the problems with malnutrition, which Nicky does not have thanks to his g-tube. I only know of a couple of patients that are over 40 right now, maybe a couple in their 30s. While I know Nicky’s health is good overall at this moment, the unknown is constantly at the doorstep and something I rather not think about. I KNOW a cure is right around the corner and it can happen. Hope it’s my big motivator. 

For more information about EB, please visit my website ebinfoworld.com and please also follow Nicky on his FB page as well fb/NickyLivingWithEB

Here are the websites I recommend to visit to learn more about EB and helps us find a cure:

http://www.debra.org
http://www.ebmrf.org
http://www.ebresearch.org

Love & Light,