My son and I had two incredibly hectic days this week. We drove to Stanford one day for 6 hours, and the next day we were in the hospital all day where Nicky had surgery until 5pm, and then we took a 7 hour drive home-longer because of traffic. That trip was so exhausting for the both of us that we are still recuperating 3 days later. I wish I could say I can just rebound from things quickly, but at 54, there is no such thing. Nicky is still in pain from the surgery but he’s doing much better. Nicky humbles me every single day. Just before surgery he realized he had a blister in his throat. He coughed and threw up for 2 hours until he happily told me he popped the blister and he threw up the ‘skin’ of it. Here’s to my son, the hero… heRead More →

Please keep Nicky in your prayers… I am a little frazzled this week but I hope I can explain myself better than my mental state wants to allow. One of the nasty side effects of RDEB is that the scarring does not only appear on the outside of the body, but also in mucosal surfaces, such as the eyes, mouth, throat and esophagus. When Nicky was only a wee bit lad (I am watching too much British/Scottish period drama, I am starting to speak like them!), I noticed that swallowing was particularly difficult. So difficult, in fact that it would take him a few hours to finish a bottle. By the time he was 3 years old, I needed to put a towel over his pillow because overnight he would soak it with his own saliva. Solid foods, or even mushy/baby foods had become an impossibility from the time he threwRead More →

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 babyRead More →

I watch in amazement the Olympics once again this year and I am always blown away. I am not sure if it’s because I’ve never been athletic and anything I see makes me feel fearless or what. I have my own little hero in my house, one that blows me away at every turn. Stuck behind his computer, Nicky can do anything and everything he could never do in real life. Online Gaming and watching videos is part if not his entire life, and in this little world of his, he’s strong, free, he is a warrior, a chef, anything his mind can imagine. This is how he survives. He just doesn’t think about EB. His computer is his opportunity to be someone else, to transform his state of mind and develop optimism and perseverance. He could be bitter, depressed, angry, instead he makes the choice of chasing EB outRead More →

I cling to the hope that someday in the not so distant future I will know what it means to see my son being free from the daily suffering he endures. In the meantime the only thing I can do is continue to spread awareness. I am not a millionaire nor a scientist. I can’t donate oodles of money for research and I also do not have either the skill nor the expertise to research how to actually find a cure for EB, so I must support those that do and continue my quest in getting this disorder known. The truth of the matter is that with enough money a cure will be found. There are now enough scientists that are trying all sorts of ways to treat EB if not cure it, and every parent of a child with his awful condition wants to be the first to getRead More →

As I explained quite thoroughly (I hope) in my blog “Dumbing Down EB“, EB varies quite a bit. There are forms that are lethal to babies, forms that get better with age, forms that get worse with age; each form of EB has several subtypes, which can all vary wildly. This is why when other patients with similar forms of EB as my son “question” what he goes through, I get a bit… shall I say… defensive. I think to myself: “Do they think I am lying?” Believe me when I tell you, I never exaggerate, and to be truthful, many times my explanations only tell the tip of the iceberg. I try, really try not to think this way, not to get upset, but alas, there it is. I know things have to change, I must change the way I perceive things and not take things so personally. I am nowRead More →

On my radio show/podcast yesterday I tried… or, rather, attempted, to illustrate the genetics involving EB in a fun way, evoking the dormant (sleeping) recessive gene and wishing it could sleep more often. Alas, genetics are hard to explain. While after nearly 20 years I am on a weekly basis describing the blisters Nicky gets (and pictures do a much better job at that), explaining how he inherited the disorder when the parents do not have the condition it it’s still a challenge. That’s the thing with recessive genes. They are tricky. The most visual way to unravel the baffling of genetics is to find some other way to explain it in ways people can understand. We all inherit a gene from each parent for the same “thing” (eye color, bone structure etc) -the famous “pair” of 23 chromosomes we have in our DNA. One comes from dad, one from mom. Of course bothRead More →

November 2004 – Nicky was 8 years old here, back when I could still give him baths. I did put a little bleach in the water to kill infections, but not a whole lot. At the time the pain level was not as bad, plus his little brother, who was 1 year old at the time, used to be his adorable self and come and play with him and the water and put toys in the water while Nicky soaked. It was a fun time for both. It used to be preferable to soak him before taking off the bandages because it made everything come off very easily. By the time Nicky turned 13 or so, however, the pain level became so unbearable that we stopped the baths altogether and started either soaking a limb at the time or just change the bandages without soaking. His health hasn’t suffered, heRead More →