WHAT IS EPIDERMOLYSIS BULLOSA? Epidermolysis Bullosa is an umbrella term for inherited, genetic skin blistering conditions that vary greatly from mild to lethal. The three main forms are categorized under “simplex”, “junctional” and “dystrophic”. In recent years they also added a “kindler” form and an “autoimmune” form to the list. By “inherited” it means that some forms are dominantly inherited (the parent has it, and their child has a 50/50 chance of getting it) or the parents are “carriers”, which means they do not have the condition, and unknowingly pass it on to their offspring, who only inherits the recessive genes of both parents. Of course there are also the cases of spontaneous mutations or, even rarer, autoimmune forms, but they all blister. Blisters form in different lays of the skin in response to heat, friction, injury or rubbing, which can be either superficial or very deep depending on theRead More →

“I no longer feel the need or want to keep living 😞😞 I don’t feel strong anymore…” That sentence, if ever uttered by Nicky, is my greatest fear. He has never said that, but he’s come close to it enough times to throw me in despair. It’s the type of emotional bleeding that occurs when a parent truly understands their child’s medical fragility. We know very well that the unexpected can and does happen, that our children are vulnerable. It is a grieving awareness, an in-your-face understanding of a bitter and unimaginable reality. All I ever wanted was for Nicky to be happy. Being happy though, in my book, it would mean that he’s in the least pain as possible, and lately that is simply not happening. It used to be that I craved for Nicky to get some sort of interaction outside these four walls. I thought that wouldRead More →

I am a nurse every single day for my son and I don’t enjoy it one tiny little bit. There are days where EB just overwhelms me. Still. One would think that after nearly 22 years it would just get easier, but it’s just draining and relentless. Nicky’s at that age now where he should be living on his own or would soon, perhaps graduating from college, but he is everything but independent and will probably never be. EB takes a toll on everything and everyone. Just recently between a persistent corneal abrasion that lasted weeks and severe stomach cramps which made his existence a miserable day to day ordeal, I was nearly suicidal, and I am not even overstating it. I guess people might think EB goes away or gets better. It doesn’t. It gets worse. I think at this point I got Nicky pretty much “stable”, his wounds areRead More →

As the mother of a child with a complex medical condition, I feel that there are some things everyone should know about what it’s like to parent this child, whether he or she is 1 or 21.  In my case, of course, as Nicky is getting older, things are getting more complicated. He’s less mobile, he has more issues, more doctors, etcetera. RDEB is a degenerative condition and the issues we may face are most likely different than what another family may encounter, but we all have similar wishes as far as how we’d like to be treated and what we’d like everyone to know about our journey. These are the most important ones to me: 1. I am not ignoring you. I try to respond to questions or chats promptly, but sometimes it’s simply impossible. When Nicky calls me I run to help him. He knows not to call forRead More →

It’s that time of year where depression sets in. The time where “vacations” are over and it’s back to the old grind. Of course, the fact that Nicky is having the corneal abrasion from HELL doesn’t help at all. It’s the constant battles, every time you turn around, that exhaust me. I had someone ask me why Nicky “wakes up” with corneal abrasions since we sleep with our eyes closed. I know this is a valid question so I wanted to share my answer. First, we need to remember that his EB (RDEB-HS) effects his eyes too. There are different ways this happens. If he sleeps with his eyes slightly open, they will dry up and a slight touch with his hand or brisk movement will cause the abrasion. He could also scratch his eye while he sleeps. Sometimes he scratches his eye while he’s asleep and hurts the skinRead More →

My son Nicky was diagnosed with Epidermolysis Bullosa (EB) 12 hours after his birth, a month later we received the official diagnosis of “Recessive Dystrophic”. Here are my top 6 things to know about Epidermolysis Bullosa. 1. Epidermolysis Bullosa is a genetic skin disorder. Epidermolysis Bullosa it’s an umbrella term for a group of genetic skin blistering disorders. The condition arises from genetic mutations present at birth, which can be inherited either recessively or dominantly. Different mutations cause the different forms of EB, as the body does not produce or produce very little of certain proteins that cause the fragility of the skin. In rare cases EB can also be an autoimmune disease in which the body produces antibodies to the structural components of the skin. 2. There are a variety of types of Epidermolysis Bullosa. Epidermolysis Bullosa manifests itself in a variety of ways. The three primary types of EBRead More →

“I have never had a day with no pain and it is almost torture to watch people do things that I know I can’t.” ~Sohana Collins (https://www.cure-eb.org/) This sweet and heartbreaking quote from a girl with EB touched me more than words can say. After I retweeted it, I asked Nicky if that’s how he felt too, assuming he would say something along the lines of “obviously”, but he said “No”. “No? What?” I was a little shocked to be honest. For some whatever reason I was always under the impression that Nicky was in pain 24/7. I always felt it was torture for him to just sit there while others did things, including his brother. I also never ate in front of him because I knew he loved food and not being able to eat it… you know… I try not to do it unless there is no choiceRead More →

Worry seems to be a mantra for EB moms. We worry. Our heart sinks with every new passing. Myself, I try to cherish every day and not think about the future, it is unknown after all. Thinking positive is hard, but I do try. I keep telling myself: Nicky will make it, Nicky will make it… he will live to see a treatment that will improve his life drastically. It may be false hope, but the truth is, my heart needs it.  Let’s be honest, there’s no handbook for raising a child with an incurable illness. We just have to muddle through, day by day, hour by hour. These are just a few of the major worries that cripple my spirit at times… 1. What if I get hurt and cannot take care of my child? What if he outlives me?  It could happen at any time. Yes, I tryRead More →