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I wanted to share this picture of Nicky’s right hand a year post surgery. It’s doing fantastic! We do wrap the hand religiously and use the splint every night to keep the opening between the thumb and index finger intact, and while we lost a bit on the pinky, it is still ‘straight’, which means it does not pull the wrist inside, which is really great regardless. Even if it gets webbed again, as long as it stays straight Nicky does not mind, it’s the thumb which is most important for us to keep open. I wanted to share this pic of the same hand 13 years ago (below), 2002 to be exact, just before the surgery he had back then. He was almost 6 when he had that surgery, and it was the last time he had surgery on that hand until last year. Without the wrapping and surgeries, asRead More →

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Have you ever had that feeling of being so completely overwhelmed and depressed, yet refusing to give up because, well, you’re not made that way? That’s how I am today. Sometimes I wish I was the kind of person that just ‘gives up’, ‘put a fork in me, I am done’. This whole thing we call life is just depressing. The thing is… I can accept EB and what has brought into my life, but the sheer amount of pain it has brought to my son on a daily basis, it’s just incomprehensible to me. I don’t get it. Yes, 17.5 years later, things are getting worse, much worse, and I just don’t understand why, how, what the heck? When I say ‘My son is in hell’, it’s not a figure of speech. He is. And yet, he refuses to give up, he has hope, he enjoys life. Faced withRead More →

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I got hit with a big blow yesterday, one I’ve known all along nonetheless. As the DNA results came back that Nicky did in late April at Stanford to find out if he’s eligible for the skin graft trials, I’ve been trying to decipher them myself. I will talk to the Doctor this week (hopefully) to find out if he’s a candidate, in the meantime through my googling I found out that Nicky does have the “Hallopeau Siemens” subtype, which is, sadly, the worse form of Recessive Dystrophic EB. Yes, he has a nucleotide substitution in exon 109, and the mutation is denoted R2685X at the protein level, which points to RDEB-HS and ONLY to RDEB-HS. Ugh. I found this out on THIS LINK, which speaks of this particular strand being of Italian origin. Upon further research I found a link of all the different RDEB-HS mutations in Italian familiesRead More →

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Good Morning to all my friends. I feel a little chatty this morning, so please indulge me! One of the most interesting assumptions people have about me because I live in the Southwest part of the United States with my name spelled with a ‘i’ instead of the English-ized version of Silvia with a y (Sylvia) is how I must be either Latina or at the very least I must be able to speak Spanish. When I tell them I am Italian I am invariably told that Silvia is a Spanish name. Actually… that is not true. Not only I am Italian, my name is also. Wikipedia lists my name originally as Italian, and it’s also a very old name. In Roman Mythology, Rhea Silvia was the mother of twins Romulus and Remus, who founded Rome 2766 years ago (753 BC). Saint Silvia was the mother of Pope Gregory IRead More →

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As per Nicky’s wishes, I am posting a few pictures I took a week ago of his left leg/foot. He’s been trying so hard to start walking again. Doctors and others have treated him as if it’s something so easy to walk, his EB team wants him to go to rehab, something he sooooo does not want to do (you can read about that at his CaringBridge Journal October entry). He wanted me to post these pictures to show what he’s dealing with. Let me give everyone a brief summary of what’s been going on with his legs and walking since he was born. I will try to keep it short, promise! Nicky didn’t start walking well on his own until he was 2 years old. I always marveled how his feet rarely got blisters, the skin looked different, tougher, for some reason. When he started going to school heRead More →

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In my quest to collect quotes for my Facebook Page where I share them (I’ve always been a quote freak!), I’ve come through a lot of wisdoms over the years that make me stop and think for a second. None come closer to my heart than those that urge you to be you, you, beautiful you, and to never, ever compare yourself to others. That is a fine and an inspiring statement, but what happens when it’s people in your life that compare you to others? That happened a lot to me growing up and that’s why I find these statements compelling. A few examples are in order. My older sister and I have always been extremely close, but we could not be more different. She’s always been a tomboy, who excelled in math and athletics. I was always a girly girl, although not as sophisticated as some, who excelled inRead More →