In a nutshell, Nicky was born with a skin disorder that falls under the umbrella of skin diseases by the name 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, one in a million! So, when I say my angel is a one in a million, I truly mean it!
At any rate... I will not bore you with the trials and tribulations we've been trough the past 13 years, insurance companies denying bandages, delaying surgeries, wondering 'why' I needed to take Nicky to a specialist and the list goes on, and on... And on! Needless to say I've learned to dislike the current Health Care system in this country quite a lot and as you can imagine I am in full support of reform. I wrote all about our experiences in my book 'Special Mommy Chronicles', available at Amazon ;-). I am writing a quite intense book about Nicky's life as we speak, but since I want to include a cure in there (thinking positive, I want a happy ending) it will be a while before I finish that one, but, I digress.
I always get the question if Nicky's getting better. Well, the answer is yes and no. Yes because his general skin, the skin that is in areas that rarely blister is quite tougher than it was when he was a baby. 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. Nicky has a g-tube, meaning he gets his nutrition via a tube in his stomach, I give him about 4 cans of Nutren 1.5 & 2.0 overnight and he drinks and eats mushy stuff during the day. His esophagus is compromised and 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 or twice 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 to walk on them much.
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 was looking into skin grafts (which they still are, ten years later), Italy (yes, Italy!) started working on gene therapy (not sure what that means, I am assuming also skin grafts). 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. I had to step away from being part of support groups because I could not handle hearing of anymore children dying, which was something I would hear constantly. It turned me into an angry person and I did not like who I was becoming. I am in a much better place now. As you may surmise, knowing other children (in many cases younger!) with the SAME condition would constantly die it's an extremely hard piece of news to take. As many of you know, 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.
Three years ago an amazing EB mom, who had done a thesis on Bone Marrow Transplants started wondering why BMTs were never tried on children with EB. She got together with a Dr in Minnesota who headed a BMT unit and they started working things out. Since then several children have done the transplant, all with a sibling match donor (which Nicky does not have-Connor, since he has a different dad, is not more likely to be a match than the general population) but in 2010 they will be starting transplants with EB children that will require a Bone Marrow Donor or a Cord Blood Donor so we'll be eagerly awaiting to see what happens. It's important to note that while the children that have done the BMT are not cured overnight. The BMT is a long and tedious procedure and it takes time to see an improvement. The longest it's been since the transplant, the better the patient is.
I strongly believe that things happen for a reason, so I've taken it as a sign that now I could not manage to take Nicky to have his transplant because of my husband's stroke. It will be a year before he's better and I can leave him for a few months to go do this. This year will be crucial to see what we decide to do because many things are going on. Not only we'll see what happens in Minnesota, but we know that they started BMTs with reduced intensity in New York at Columbia University which might be a much better/easier option with Nicky if they work. I also know that they've made some strides in Italy and they stated in their National Telethon this month that they will have gene therapy within the next couple of years...and we wouldn't mind being stuck in Italy for a few months, ya know? We'll be with family rather than alone in the middle of the US. I am still a citizen and I can make Nicky a citizen anytime I wish.
We are also keeping an eye on Stanford. The EBMRF (which funds EB research at Stanford) was able to get many celebrities involved in their fundraising. Last year 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. As I hear this is still a couple of years away at best.
I am still leaning toward a BMT all things considered-I know this is a risky procedure, but skin grafts would only heal that part of the body, they would not cure anything related with his esophagus and he'll still have EB, while a BMT, even if it might take years to completely take, would ensure an overall treatment. Even if this meant in the end he would only be 'cured' 50% overall, this would be FANTASTIC in our book.
This is however, a hard decision to make because we would be away for nearly 5 months. Connor won't be able to go with us at least at first, and even if I know we could stay at the Ronald McDonald's House, that's still $15 a day plus food. This does not include co-pays which I hear are going to be astronomical. Hence... We are not looking into a few thousand dollars, we're looking at needing to raise somewhere between $25-100k. We do not have this kind of cash, so before we go we'll need to figure out how we'll manage this. Anyone have any ideas?
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. ;-)
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