Today is the international day of Rare Diseases – of course Epidermolysis Bullosa being one of them, it hits close to home. There are about 7,000 rare diseases, affecting 30 million Americans, 300 million people worldwide, but only 5% have treatments, and far fewer have cures. Rare diseases often go undiagnosed, and while a diagnosis per se does not cure the condition, the fear of the unknown is greater. Even when you do get a diagnose, sometimes it’s hard anyways because patients seem to react very differently to treatments. Second guessing becomes a pastime. No one can prepare you for having a rare child. It’s a lonely place to be. A diagnosis will open doors and give you access to the people and resources you need to help take care of your child. But your child’s disease is rare, and before too long you realize the experts are rare themselves. So, youRead More →

I’ve admittedly been a little frazzled lately trying to get Nicky’s dilatation approved. I kept finding all these stumbling blocks. He’s over 18. His Doctor has retired. The new Doctor is not contracted with the Medical Group. The list goes on, but I realized yesterday that perhaps the biggest thing my son has taught me is that persistence pays off. Never give up. Ever. And it helps to MAKE people understand, clarify the situations to those who, frankly, NEED to understand. Sometimes my struggles in getting Nicky what he needs is akin to being in the water, trying very hard to swim, and lo and behold, there is a bunch of people standing at the shore wanting to help, but not knowing how. Some may get their feet wet and ask us what we need, but they are rare. Most stand at a distance judge us and assume what we needRead More →

October 1997 – Nicky, 11 months old standing up on the couch. He was so excited! Following is an excerpt from the Book “Butterfly Child”. This happened right around the time this photo was taken: “A few days later, in the evening, Nick and I were watching “Wheel of Fortune” when Nicky out of the blue started throwing up serious amounts of blood. It was a lot more than the previous week; it was a scene out of a horror movie, there was blood everywhere. I was shaking as I was holding Nicky, unable to even remotely think of what to do next. Nick picked up the phone and called 911. Within minutes we had several firemen in our living room, which moments later transported Nicky and I to the ER in an ambulance while Nick followed us with the car. The most distressing aspect of going to the ERRead More →

There comes a point in your life, usually with age, in my case at least, where you need to reclaim yourself and not put too much weight on what other people think or what our society deems acceptable. I now 1000% know who I am and I came up with these rules for to reclaim myself. Can you relate? 1. PEOPLE’S OPINIONS. I’ve heard enough negative opinions about myself since I was a child that if I let that dictate my daily mood I would be in a pool of tears every single day. No, thanks. I learned that negative opinions have more to do from the person giving them than the person getting them anyway. I prefer to surround myself with positive people. People that care. 2. ABOUT MY EX. I know I should hate my ex, but I don’t. Sorry. We’re still friends because it benefits my son.Read More →

Nicky’s inner strength is something I deeply admire. There are times that he still surprises me with his wit, the way he thinks and the way he handles things. He’s such a loving, deeply interesting boy for those that care enough and are lucky enough to get to know him. He suffers greatly as well though, and that fact can never be ignored. I took the following pictures this past month to give everyone a small glimpse of what his skin looks like under the bandages. He’s part of the SD -101 cream trial (http://ebstudy.com/) so if you think his wounds look better, it’s because they do. This is his right arm. It’s looking fantastic. I know, I know, it still looks painful, but considering how it looked like before, say a year ago, there is a big difference. This is his lower back. This area is harder to wrap becauseRead More →

There is a unique kind of grieving that special need parents live with every single day. Yes, we like to live our lives as normal as possible, but then, SLAM, something happens that reminds us how fragile our children’s lives really are. True enough, my Nicky is beating the odds, he’s very much alive and ready to fight and I am ever so grateful he is, especially since I have so many friends who have experienced the loss of their children, and since I have buried a child myself, I know exactly how that feels. I want to delay that horrible fate as much as possible, while continuing to hope for some kind of treatment to come along. That does not change the fact that my hopes and dreams I have for my child die a little more each day as I watch him struggle to just survive. When Nicky was fiveRead More →

June 2001 – Nicky, 4.5 years old @ Stanford just before his dilatation. Following is an excerpt from the Book ‘Butterfly Child’ Chapter 9 “One of the things that turned out to be very frustrating about the move was finding a new Pediatrician. After much research I took Nicky to the first appointment and let’s just say this woman was a complete disappointment. Not only she was quizzing me on the minutiae of his care, which made me feel defensive and guilty at the same time, but also she knew absolutely zero about EB – not a surprise there – so why is she telling me I “overwrap” my child? How would she know? She also refused to refer Nicky to Stanford to see the EB Doctor for him to get the dilatation he needed. I felt so disrespected that day, not only as a parent, but also as anRead More →