Nicky & EB. What it is, how he’s doing.

I wrote this as a Facebook/MySpace/Blogspot post a couple of years ago-I tweaked it and updated it a bit but I felt this information is worth sharing and keeping ‘out there’ so to speak. There are quite a few family and friends, including some I’ve reconnected with recently, or within the past couple of years who are not sure what Nicky has or what’s going on with his health, so I figured I’d clue everyone in because in the coming years I will need your support more than ever.

May 4, 1997 – Nicky is a little over 5 months

In a nutshell, Nicky was born with a skin disorder that falls under the umbrella of Epidermolysis Bullosa, a fancy Latin term meaning Blistering of the Epidermis. There are three main forms of EB, Nicky has the Dystrophic form, the form that makes the deepest wound-a wound that travels down to the dermis, also similar to 2nd degree burn-like wounds. His form is officially called ‘Recessive Dystrophic’ because the gene that causes the condition is a gene that is generally recessive, people can be carriers but cannot have the condition unless two recessive genes are inherited, one from each parent, in which case one is forced to become dominant. This is why RDEB is so rare, two in a million!

At any rate… I will not bore you with the trials and tribulations we’ve been trough the past 15 years, insurance companies denying bandages, delaying surgeries, wondering ‘why’ I needed to take Nicky to a specialist, our bankruptcy over Medical Bills and constant inflow of them even now… and the list goes on, and on… And on!  I am writing a quite intense book about Nicky’s life as we speak, but since I want it to have… maybe not a ‘happy’ ending per-se but a more optimistic ending, I am not planning to finish it before Nicky’s 18th Birthday, but, I digress.

I always get the question if Nicky’s getting better. Well, the answer is, mostly no. His general skin, the skin that is in areas that rarely blister is quite tougher than it was when he was a baby, by far. 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 in some cases Nicky now 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 Stanford 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.

March 2001 – Nicky is 5.5 years old

When Nicky was born in 1996 there was NOBODY looking for a cure. There was absolutely nothing going on. Zero, Zilch. It’s only been since the late 90s that things started happening. Stanford has been working on skin grafts, as Italian Doctors are and there are other therapies that include injections and medications to ease the symptoms or take them completely away.  I remember having many long talks with Lynn Anderson, the wonderful woman who started the EBMRF because she wanted a cure for EB so badly (two of her children died from EB) and it was apparent to me a cure would take many, many years.
The problem with children 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 and I rather concentrate on a happier future for my boy. I KNOW it can happen. Hope it’s my big motivator. Unfortunately I know the severe toll EB has taken on him over the years and it just kills me. He used to walk fine, even run a bit, while now every single step is excruciating. His wounds used to look a certain way, now that those areas have been open for so long, the wounds looks different, and it scares me. Nicky used to be pretty active all things considered, now he sits at the computer all day hardly moving at all. The most important thing for me to do is to keep him *happy*, because the last thing I want to happen is for him to ‘give up’.
I have a hard time being part of support groups because it’s extremely hard to be able to handle hearing of anymore children dying, which is something I hear constantly. Just in the first 3 months of 2012, 7 children with EB passed away.  As you may surmise, knowing other children (in many cases younger!) with the SAME condition as my son have died it’s an extremely hard piece of news to take. I buried my first baby, Alex, who was stillborn at full term, and the pain I felt it’s the worse feeling in the world bar none and I never want to feel that way again. Just today Connor (my healthy 8 year old) asked me if I was still sad about Alex dying, and when I told him yes, he then asked me when I wasn’t going to be sad about it anymore. Never was my answer. It’s not like I am sad constantly, it’s just something I’ve learned to live with, but it still gets me at times, the pain will never go away and it’s okay, I’ve accepted it and Alex deserves that much. On the same token, I never, ever want to feel that way again. Never. It would literally destroy me.

There was a point, about two and a half years ago, where I was planning to take Nicky to have his Bone Marrow Transplant, but I strongly believe that things happen for a reason, so I’ve taken it as a sign that my plans derailed when my husband had his strokes.  Even though he could still manage to go to work, there was no way I could have left him alone, with Connor, for months. By the time I got the referral-which took a year to get, and went to Minnesota in October 2010, several children with EB had died following the BMT or died soon thereafter, scaring us to death. One of these children, EJ, was one of Nicky’s buddies from camp, and he took it HARD. Nicky didn’t want to do it, and is still on that idea and I have to agree. There is so much research going on right now, why risk it? We’re so close… that’s what keeps us going, hope, hope, hope and nothing else but hope.

Late September 2007 – EBMRF Fundraiser, Nicky (10.5) with Courtney Cox

We are keeping an eye on Stanford. The EBMRF (which funds EB research at Stanford) was able to get many celebrities involved in their fundraising. With Oprah’s Big Give they were able to raise several million dollars, and by having Courtney Cox as their spokesperson they ensured many other celebrities being involved, such as the Arquettes, Jennifer Aniston, Eva Longoria, Brad Pitt and others. Their fundraisers are always celebrity studded and they have been bringing us much needed awareness. Stanford, as I hear, is close to getting FDA approval on their genetically ‘cured’ skin grafts so we’re keeping an eye on what’s going on with that. The way I understand it, they would take a skin sample from the patient, genetically alter it in vitro and then grow enough to cover areas such as knees, ankles etc, permanently healing it. I am not sure of a timeline, but easily at least a couple of years at best. I love the idea of the injections as well, which is something many other hospitals are working on around the world. These injections would work on a similar idea-wherever the injections are done the skin is permanently cured and will never blister again. Where there is life there is hope. It’s hard for us to think of the future, not knowing what it might bring, we live for the day and that’s all we can do.

Thank you everyone for your continuous support. Your love and light means more to me than you’ll ever know.

Hugs,
Silvia and Family
P.S. I read this to Nicky and he gave me his thumbs up. 😉