Help Nicky raise EB Awareness!

Nicky was born on November 25th, 1996 and was diagnosed with Recessive Dystrophic Epidermolysis Bullosa (RDEB). EB is a rare genetic skin disorder, his body does not produce a vital protein that glues the layers of his skin together, hence the slightest friction causes painful blisters and wounds. His body has to be covered with special wound products and bandages to allow his wounds to heal and protect his skin from further damage. There is no treatment or cure at this time. You can help Nicky and all the children like him by helping us raise awareness! Like and share this image today. Follow these links for more information: Debra of America EB Medical Research Foundation EB ResearchRead More

Gene Therapy for Epidermolysis Bullosa

This was an important week for Epidermolysis Bullosa Awareness. An article about a boy in Germany that was treated with skin grafts from Dr. De Luca in Italy is making the rounds around the world. (Here’s the link for the CNN article). The original research article that was published on Wednesday (the link is here) explains how it was all done. It’s complicated stuff, but here’s a quote from the CNN article that explains how it works: To obtain the skin’s stem cells, the doctors took a small biopsy — only accounting for 1½ square inches — from an unaffected part of the boy’s skin. The stem cells were processed by De Luca in Italy. A healthy versionRead More

We need MORE EB Awareness!!!

Several years ago I happened upon a reply to a post about a child with severe RDEB in a special need parenting forum and one of the commenters stated that they should just “kill him”. That comment got a lot of likes and it got me very, VERY, VERY upset. I was irate. I could not sleep for days. That same week another EB mom had to defend herself from similar commentaries. On her blog she stated that her child could breathe and eat on his own, it’s not like he was on life support. What was she supposed to do? Starve him to death? Not change his bandages and hope for an infection to take him or…Read More

Nicky featured on TV show “Body Bizarre”

It was a cold, rainy, foggy day when we left San Francisco this past February at the end of the shoot for Nicky’s documentary. We arrived home just before midnight, exhausted but happy. Nicky then slept for over 12 hours, as he often does. I was contacted by Barcroft TV Productions last fall after Kate, a producer, came across my book “Butterfly Child” where I wrote about Nicky’s life with Epidermolysis Bullosa. She wanted to know if Nicky might be interested in telling his story for this show. Nicky is always VERY open for awareness, he wants a cure, and he’s not, and never has been modest about taking photos of his wounds etcetera. I know many patientsRead More

Nicky’s in Charge

The other night I was changing the bandages of Nicky’s lower back and to my dismay, in the attempt of healing the area, the opposite happened. It’s now worse than it’s ever been. The whole area is a BIG open wound. Ugh. It’s always a shock to me that I can even do this. Before Nicky was born I was an absolute wimp, who could not watch my own blood being drawn. Amazing what we learn to do out of love for our children. WIth his lower back now a bloody wound, my heart sank. Because of that, I resolved to make sure to use my concoction on it as well-I haven’t because this is an area veryRead More

We are the Experts

“This message is so simple, yet it gets forgotten. The people living with the condition are the experts.” I was reading an interview with Michael J. Fox on a magazine and when I read that line I had to underline it a million times. Not only because it’s true, but because it reminds me that asking my son how he feels or what his pain level is on a daily basis is so crucial. Nicky is a pretty brave individual, and he never truly volunteers this information unless it becomes so over the top painful that he has no choice but tell me so I can give him some pain meds. He’s spoiled me in many ways, butRead More

Blog Quotes

Women are a swirl of emotions as it is and my husband often tells me how on earth we live longer knowing how conflicted we are inside all the time. We are. We are emotional bags and this sort of experience is like a tornado of emotions. Forget tornado, how about a category 5 hurricane? Genetics are hard to explain. Trying to make people understand how my son inherited the disorder when his parents do not have the condition is a challenge. The reason why Recessive Dystrophic EB has the world “recessive” in the name is because this is a recessive gene, a gene that lies dormant unless it’s paired with another recessive gene, so one of themRead More

Rare Disease Day 2017

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 accessRead More

Fighting EB Every Day is our “Normal”

As Nicky’s 20th Birthday came and went, I am reminded of so many moments in his life where things were dicey. When I really thought he wasn’t going to make it to his 8th birthday, let alone reach his twenties. When he was 5 years old, in fact, he took a bad fall, which denuded both his legs of skin from his knee to the ankle. His knees and ankles were already non-healing areas by then. After 2 years of trying everything under the sun to get his legs to heal, I was at my wit’s end. Not only his health was spiraling out of control as his infections were at an all time high, his spirits wereRead More

Epidermolysis Bullosa is not a Life Choice. It’s Real & it’s Hard.

Last night, during a bandage change, I barely touched Nicky’s feet and he yelled in pain. I wasn’t touching a wound, mind you, I was simply “gently” feeling his skin. His feet nowadays are mostly healed, and they have been healed for sometime, they really look beautiful all in all, so I was a little perturbed. In truth, for the past several months – or years – Nicky won’t let me touch his feet at all. If there is a wound or a scab to clean or anything else he insists on cleaning it himself. I don’t mind at all, yes, please do it, ha ha. I asked him what is the matter with his feet though, andRead More

EB Awareness Week 2016

I know I am beating the drum of Epidermolysis Bullosa Awareness every single day, especially on my ebinfoworld.com facebook page, but this cause is very close to my heart and it really needs everyone’s attention. There are so many conditions on this planet, many of them rare, and it’s hard to get the word out often because our voice can drown in the sea of worthy causes. The rarity of some like EB, however, makes it very unlikely that enough money is raised to find for a cure. Let’s face it, investigating EB in not exactly an attractive proposition to giant companies who make money by alleviating human suffering. The more common the condition, the more money they make. ItRead More

Epidermolysis Bullosa by the Numbers

As EB Awareness week is approaching, I always hear the “numbers” of EB being floated around. One official website states the incidence of EB  is 1 out of every 20,000 births. Another official website states One in about 17,000 live births. Yet another official website states 1 in 50,000. The truth is, most likely nobody knows for “sure”. I am telling you this because I remember quite clearly a gal that was a waitress at an EB event who then went to the organizer to tell her afterwards that she thought she had EB, how her feet always blistered and nobody knew why. She later found out she indeed had EB. This happens because the genetics of EB are so uniqueRead More

Blog Quotes Part 4

Feel free to save them and share! To save the bigger version of the image, click on the image first to load it, then right click to save image. Time and patience have brought me a long way. I have a sense of peace about things that is hard to explain sometimes. I try my best to own the pain so it does not own me. I kept my personal bankruptcy, which resulted from our insurance company refusing to pay for supplies and other things a secret because I was so incredibly embarrassed and mortified about it. But the secret is out. I am not longer embarrassed or mortified, I am mad as hell. Just as every personRead More

I Hate EB

Several years ago an EB mom I used to correspond with said something pretty profound and perhaps a little controversial that I wasn’t sure if I agreed with or not. I normally am pretty clear how I stand on issues, after-all I am in my early 50s, and while I am still open to discuss matters and topics up to a certain degree, there are some things that I just will never change my mind on because my life experiences steered me in a particular direction. That direction being a more empathetic, kind and positive. Yet this issue is one that, after all these years, I am still unsure how to feel about it. I can’t agree and IRead More

Blog Quotes Part 3

Feel free to save them and share! To save the bigger version of the image, click on the image first to load it, then right click to save image. Nicky loves and cherishes his hands, and wrapping them is as important to wrap for us as any other part of his body. It’s just incomprehensible to me how this horrid disorder exists and it completely changes our view of life in ways we never knew we needed to know nor learn. Not sure I mentioned lately how much I hate EB. There you have it. I hate EB. This grief thing is just bizarre. I rarely think of Alex and cry anymore, good gosh, it has been nearlyRead More

From Defensive to Educational

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,Read More

What I Want Everyone To Know

I was recently asked the following question by a reporter: “What do you want others to know about genetic disorders and the challenges individuals who have them and their families face?” So I wanted to share my answer here: I think the foremost thing I would like people to know about EB in general is that this condition exists and it’s horrible. There is no sugar-coating EB or trying to make it worse than it is, we couldn’t imagine a worse condition, ever. The pain the patients go through, especially in the worse forms, is unimaginable. Awareness is key. Without awareness we have nothing. Without awareness we can’t hope to raise funds to find a cure. Then IRead More

Blog Quotes Part 2

Feel free to save them and share! To save the bigger version of the image, click on the image first to load it, then right click to save image. Nicky in the end is my ultimate teacher. It’s because of his lack of bitterness, lack of hate, lack of negative thoughts, that I am becoming a better person. I would love a weekend away with my husband to feel like a wife and a woman, but an EB trained nurse to provide child care is nonexistent. I made peace with that. Being compared to others does something to our self-esteem that is extremely damaging.. I don’t particularly enjoy seeing him in more pain, but he has decided longRead More

Daisy

You know there is a major dent being made into EB Awareness when movies are now being produced to bring forth awareness! This is HUGE in my book! GIGANTIC!!! The first movie, released in 2014, was called “Butterfly Girl” and was a documentary-style movie about the real life story of Abbie Evans. More info HERE and the movie can be downloaded via iTunes, Amazon, & YouTube. There was, of course, My Flesh & Blood back in 2001, a documentary about the life of Susan Tom, which I am humbled to call a friend, and her many adopted children, 2 of which had RDEB like my son. There are two other movies in production that I am aware of. The first one is calledRead More

Blog Quotes Part 1

This is the first of what will eventually be many posts over the next several months or longer of quotes pulled right out of this blog of mine. Feel free to save them and share! To save the bigger version of the image, click on the image first to load it, then right click to save image. While you stare at my child, is it too much to ask you to smile? A little smirk? A Wave? Small talk? “Hey kido, having a good day?”, anything will do. I promise you, he won’t bite. I have learned that life is far from fair and we would be better off flinging that thought as far from us as possible. EBRead More

Personal Decisions

For many years now I often had people that care about Nicky telling me about or asking me why he hasn’t had a Bone Marrow Transplant. While I wrote in the book extensively about Nicky’s decision (because, make no mistake, he is in charge of his body and I’ve told him that since he was old enough to understand), I wanted to delve a little more into it. Nicky has given me a free pass to talk about EB as it pertains to his life long ago, so please do not think I am doing this behind his back. I wouldn’t do that. Never. As soon as I heard that Minnesota started doing the transplants back in… oh… 2007Read More

Working Toward EB Awareness

For the past several months I’ve been hosting a show called “Butterfly Talk” (radio: BlogTalkRadio/podcast: iTunes) where I interview different personalities that are working toward EB Awareness or offer information in regards to EB at large. My mission is to get these individual’s EB awareness efforts recognized, mostly because EB being a rare, often called an “orphan” condition, it gets little airwaves. This is my effort in raising consciousness about EB at large. Whether I am actually making a difference, I don’t know. But I won’t stop. Ever. My latest guest was Jodi Champagne, which is a well respected photographer and good friend of mine, who did the Photographic Documentary called “Courage Under Wraps“, which depicts my son Nicky’s life withRead More

To Bandage or NOT to Bandage. That is the Question.

If there was one thing I’ve been criticized endlessly for, and for which I’ve stood my ground over and over again, is my need to bandage Nicky. I wrote extensively about it in my book (Butterfly Child), but I feel the need to make my feelings more “public”, so to speak, because, once again, I was attacked for it, merciless. I am not sure why people I do not know, who very obviously (having met them or seen their pics) are dealing with a different subtype or subform of EB feel the need to go to the extent of calling me a “bad”, “horrific” or a “crazy mother” and why they feel the need to “tell me what to do”, asRead More

You Know You’re an EB Parent When…

When you can make a Doctor say “Huh?” You have enough paperwork to wallpaper your house. You own more scissors that is either reasonable or anticipated. When you know more than the real doctors do about your child. When you think it’s a good day if you don’t see any blood. Your invitations to any get-togethers have disappeared. You know EB families who lost everything because insurance wouldn’t pay for appropriate care and supplies. When your two-year-old knows how to pop blisters. You have an extensive vocabulary on Medical Terminology. You have a bag full of wound care supplies in the car for emergencies. When you pack for a vacation and the first suitcase is filled with supplies andRead More