Blog · December 22, 2016

Medically Fragile

It occurs to me sometimes that when people in general refer to Nicky or any child with EB as “medically fragile”, they may not truly understand what that means. And the truth is that the definition varies widely not only depending by the form of EB but also from patient to patient.

Since my only “specialization” is with Nicky himself, I will attempt to clarify what that means to Nicky being called “medically fragile”, which may not be far from describing the experience of other RDEB families.

Let’s start with the acronym itself before I go any further to explain why this condition is so rare:

RDEB = Recessive Dystrophic Epidermolysis Bullosa.

It is called “Recessive” because it’s inherited recessively, meaning both parents are “carriers” of the condition. And even when this is the case, there is only 1 in 4 chances of a baby being born with RDEB, as the baby has to inherit only the recessive genes, one from each parent. Each parent has 2 copies of the same gene, one from each of their parents, and the recessive gene is automatically recessive. But if the baby inherits 2 recessive genes, one of them has no choice but to “show up”. This is why RDEB is very rare. Not only is not common to be a carrier to begin with, statistically speaking the chances are 3 babies in a million to be born with RDEB, although Nicky has the “Generalized Severe” form of RDEB which is 1 in 2.3 million.

Why is RDEB Medically Fragile?

Mostly because of the open wounds and the consequences of having non-healing 2nd degree burn-like wounds, which can vary and be extremely damaging, even lethal. The skin, after all, is the largest organ of the body and it affects everything he does. Every movement can be painful. This is not only his outside skin, but all the mucosal membranes as well, which includes his eyes, mouth, throat and esophagus. His ability to walk has slowly diminished over the years as has his ability to eat, and his fingers and toes want to web and curl. His body is so busy trying to heal he’s yet to go through puberty, and he’s extremely anemic among other things because of blood loss through his wounds and the extra blood his body needs to make to try to heal wounds. Something that my body would fight fairly fast because of my strong immune system, could take a while or could be dangerous on his because his immune system is so busy fighting as it is and has weakened as well over the years.

I realize that even people we know and love struggle to fully comprehend what Nicky’s medical fragility truly means. This is why I share wound pics on occasion. I regularly receive well-intentioned questions about whether Nicky will ever get better. The short answer is no. RDEB is degenerative, which means it gets worse with age. And even that explanation is not really correct. It’s not that the condition gets worse, the continual damage is one of the more serious medical problems we are always dealing with because when an area gets damaged over and over it eventually fails to heal properly or timely and that’s when issues of infections and fears of skin cancer start rearing their ugly head.

I wish I could say I was being dramatic when I say that Nicky’s medical condition is serious. Very serious. My entire life revolves around Nicky’s health and well being. We drive two hours away once a month to make sure his Doctors can monitor his medications, blood levels, get infusions and discuss many different issues involving nutrition and all around health. When he’s in need of throat dilatations or other specialized care, including clinical trials, we travel six hours away to Stanford. This year we went 9 times.
We are in constant discussions about potential surgeries, procedures, tests, and medications with his ridiculously long list of specialists. Nicky has seen them all. Dermatologists, Hematologists, ENTs, Cardiologists, Gastroenterologists, Neurologists, Physical and Occupational Therapists, Endocrinologists and the list goes on and on.

Now that he’s older I am better equipped to know what’s going on, but when he was a baby I would freak out constantly over things that now are common issues that I can deal with. Nicky has spent more time in a Doctor’s office as a patient than I’ve spent in my entire 52.

With Nicky, we’re not dealing with a fixable problem, one that we have the hope of treating and moving on. This is our life, 24/7 and for the foreseeable future unless a cure comes or a treatment is found to lessen the blistering. As a medically fragile patient, Nicky requires daily specialized care because his condition can rapidly decline resulting in serious complications or death. The state of California deems his condition serious enough that they enrolled him in nursing support, and I decided long ago to be that nurse. Nicky is extremely grateful for this, as he is completely dependent on others, can’t participate in self-care, he’s tube-fed and requires daily bandage changes. He’s not mobile either, which adds to the challenges. Even moving from his bed to the chair can result in a blood blister twice the size of a quarter.

Even so, Nicky enjoys life and has an amazing attitude. In the morning, even after he threw up all night, he has a smile for me and I kiss him endlessly. He and Connor play computer games together and he plays with others online every day. I often hear him laugh heartedly, and he has told me time and time again how he loves to forget about EB.

That’s what I like to do as well. People look at me and see the “together” image I’m trying so hard to portray. Maybe I hide it so well because I am so used to it. EB is our normal. I hide my weaknesses and fear because Nicky taught me how. Even on days that I am sobbing or screaming on the inside, I dress nice, fix my hair, arrive early and sometimes even bring cookies.

I decided long ago to enjoy life for what it is, not for what I’d like it to be.

Love & Light,