Living with Epidermolysis Bullosa

Several years ago I compiled several stories from families dealing with EB and I made a book out of it. The result was amazing. Since I will never feel like I did enough to market this book the other day I decided to make a “Book Trailer” out of it to help a little.

Living with Epidermolysis Bullosa has first-hand accounts written by parents and patients who are living or have lived with EB, and was compiled to help people in general understand how it is like to truly live with every form of Epidermolysis Bullosa; from the milder Simplex variants, who are nonetheless not simple to live with, to the more lethal, namely Junctional, whose patients usually succumb to before their first birthday. The stories you will read are from proud parents, or patients and their struggles and how they are coping. Some stories are sad, some are encouraging, and everything in between.

This book is also available directly from the Publisher and also as a paperback at both Amazon & B&N and is also available in the iBookstore in iTunes, and for the Kindle.

Love & Light,

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Bandages, Smandages

If there was one thing I could say that has been the most frustrating in Nicky’s life with EB when he was younger was dealing with bandages.

There was the issue of the cost, where to get them, insurance coverage, what to use, how to wrap, trial and error, the list goes on and on. There was not one place in particular I could go for answers either. Different forms of EB’s wounds react differently depending on what wound products one uses, so if the person suggesting something was dealing with a different form of EB, I learned the hard way (at Nicky’s expense nonetheless) that I had to take that information with a grain of salt. The whole thing was just nightmarish. Who wants their child to be their own guinea pig?

IMG_0002 (2)fskWhen I look at photos of Nicky when he was little I cringe. Oh… dear… God. Why wasn’t I wrapping his hands? Was I really covering a nasty wound with a little vaseline gauze and cover with rolled gauze? Was I really expecting it not to get stuck? Why was I not using more ointments?

It’s so easy to judge myself, but the truth is, at the time I did the best I could with the little information I had and little to no bandages available to me. It wasn’t until Nicky was 9 months old, at our first Stanford appointment, that Dr. McGuire showed me the curled index finger on his right hand which could no longer straighten. 9 fricking months old. I did not even know this was a possibility. No clue. I had no idea hands clubbed. Not only that, bandages were so expensive it threw us into bankruptcy court within a year. It was just fantastic.

There was no learning curve for us, EB hit us right away like a ton of bricks, and Insurance companies refused to pay for bandages for 12 years until National Rehab got involved. For many years to come we survived on donated bandages or, worse, washed and re-used bandages. Doctors frowned at that, but my credit was ruined and I had no money. When we moved to California in 2001, when Nicky was 4 years old,  I had gotten CCS (California Children Services) to foot the bill for the bandages, which followed an 18 month span where Aetna for whatever reason decided to cover bandages and then we were forced to change insurance company so that was that. This issue of bandages was a nightmare, one that was solved only once National Rehab got involved.

I cannot sing National Rehab‘s praises enough. If you are dealing with EB and have insurance, contact them right away. I am as serious as a heart attack. Do it NOW. Talk to Bill. Not only they’ve got us covered, but they also wave the 30% co-pay for us and all EB families. I know for a fact we could not afford to pay 30% of Nicky’s bandages, let alone 100%. Nicky’s life depends on bandages. Until there is a full-fledge cure, bandages are key and nobody can afford this stuff. I don’t even dare look at the bill each month. I know it’s in the thousands. THOUSANDS! It’s insane.

I am not one to complain, but my story needs to be told. This is a HUGE problem, one I know too many families are still dealing with this, whose insurance refuses to pay for bandages. I don’t know what the answer to this problem is, but since I know the US is hell bent in only having for-profit care, Insurances need to realize or be forced to realize that bandages for an EB patient are not a “luxury” but a “necessity”.

I had started a Wound Care Bill petition in 2006 and it never got the 10,000 signatures needed to be presented to Congress. It’s a damn shame. Do you know of a congressman with a heart? Let me know.

Our children suffer tremendously. Is it too much to ask for insurance companies to get supplies to keep them infection free and their skin protected? Sometimes I wonder…

Blessings, Love & Light,

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Ask Nicky (and Connor!) video!

Hello everyone!

Here’s video #2 (Video #1 is here) of our series “Ask Nicky”. My son Nicky was born with the Recessive Dystrophic form of Epidermolysis Bullosa. He is 18 now. In this video his brother Connor (11 years old, EB free) is here as well answering questions. If you have any questions for Nicky about his life with EB please leave a comment below. Don’t assume what his life may be like, just ask! We love questions!

Thank you so much for caring about Nicky!

Love and Light

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Different Realities

Having a child diagnosed with something as bizarre and as rare as EB means living in a world that does not fit the reality of our world at large, even within the EB community. In my life I have struggled, worked hard, I’ve been poor and had bad luck, but this is something that most people could relate to, I never truly felt alone. I knew there were a ton of people out there that worked hard and long hours and still struggled, lived paycheck to paycheck, could not afford things… Even after I lost Alex at full term, I could still find other parents that lost babies. Perhaps the circumstances were different, but the end result was identical. We all had to bury our babies. There was no going back or doing things differently, hope was lost. It was over. We shared our journeys and helped each other through our grief.

Dealing with EB however, is a completely different animal. I took a lot of advice that turned out to be great, and a lot that actually hurt my son greatly. There is so much trial and error because not only the various forms of EB are very different from one another, but there are so many different genetic mutations that can cause each form of EB, which in turn can effect each form in many significant ways. While similar, two RDEB patients can have very different realities. The whole thing is just mind-boggling.

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I was told once by a RDEB patient for example, when Nicky was little, that healing wounds with moisture was detrimental and made her skin more fragile.  Scar tissue on the other hand was much harder to injure, and she told me how she could do crazy things with her thickly scarred hands that she could never do without the scars. I thought that was great that this worked for her, but while that might have been her truth, I never found this to be true for Nicky. Believe me, I wish it were! I mean, who wants to spend hours every day changing bandages? I sure don’t. I can only speak for Nicky of course, because that’s all I know, but once areas got damaged and they healed without moisture, they would scar, and that scar tissue was weaker skin, not tougher in his case, which would re-blister that much easier. Eventually, as each new wound went through the cycle of healing, it took longer and longer to heal and then it did not heal at all. That’s why Nicky in the future would have wounds that took forever to heal, and some that never did. He never got these thickly scarred areas that were tougher to get a wound on. Ever.

This is what makes EB one of those conditions whereas one patients swears by one thing, it does not work at all for another, and why there is so much contention on support groups at times. One’s reality can be quite different than another. Sometimes the differences are more acute than the similarities, fueled by everyone’s different personalities. Another woman with RDEB for example, was horrified of Nicky getting a biopsy recently and how that was the most traumatic event in her life. She called the Doctors “cruel”. When I asked Nicky about it, he said that yes, it sucked, but most “traumatic”? Hardly. He further told me how he would never, ever consider his Doctors cruel in a million years. When I told her this, she told me that Nicky was lying to me to make me feel better. Huh? When I asked Nicky if he lied to me he looked at me and laughed. “Really? Mom, I would never lie to you about that”.

There is this false notion that when you get a specific EB diagnosis then everyone with that specific diagnosis is the same. I’ve encountered this so much especially recently that has become quite hurtful. I’ve written about this quite extensively, how everyone is different, but time and time again, so many want to judge our journey, and if something is worse with my son than them (say, Nicky can’t walk but they can) it means we’re doing something wrong. I cannot express how hurtful this is. It is very hard, especially for Nicky, to be discriminated against and for me to see my child treated like a zoo animal from those that should only be offering kindness, understanding and acceptance.

I am just thankful that this is the exception and not the rule. The vast majority of my friends within the EB community are kind and considerate, and I appreciate this more than I can express.

Just as every person is different with their talents and gifts, so are those with Epidermolysis Bullosa. Everyone is different. Respect. Listen. Care.

Love and Light,

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Fed Up!

OK, now that I have your attention… this blog has nothing to do with Nicky or being Fed up with my children, no way! Ok, so I am Fed Up with EB at times, don’t get me wrong, but I adore my children. I will write about my precious ones next time, I promise! This blog does have everything to do with health and healthy eating which I’ve been wanting to talk to for ages and finally have a moment to seriously sit down and write about since watching this fascinating documentary called Fed Up, which is another extremely well-made documentary about the food industry. Another documentary that I thought was groundbreaking was Food Inc.

Please watch this preview first…

Fed Up basically exposes how the food industry at large adds all kinds of sugar in every kind of food imaginable, which is a harmful, addictive substance, meant to generate profits, rather than provide the public with healthy food. What does our culture say we should do to combat obesity? But of course, we have to exercise, and the reason we’re all fat is because we’re too lazy… yadda yadda yadda. They’ve got everything wrong. This whole fitness craze to combat obesity is malarkey. Look, I am not knocking fitness, we should all move (I take the stairs all the time and park as far away as possible to force myself to move, I am even walking from time to time!) but let’s not coat up the real truth with sugar. Pun intended. My grandma lived to be nearly 102 and never visited a gym her entire life. Neither did her parents, who died in their late 80s (a feat in those times!). They all just ate good, fresh food. Period.

OK, so to me this whole fresh food is better than McDonalds was a no brainer from the get go, but I was lucky. I grew up in Italy. I have a whole different mentality about food than most people I’ve met in my adult life that grew up in the US. It seems as if only now people are waking up from an extended fast food induced coma and realizing that perhaps they’ve been duped their whole life. Watching the Biggest Loser it’s a shock for me to see how these people didn’t know that fried food or donuts are not exactly good for you. It’s just sad. I’ve been lucky in the sense that not only I grew up in the land of optimum food, but my grandparents owned a mini-farm which we visited every Saturday when I was a child. Because of their farm, we always ate fresh vegetables, fresh fruit and fresh eggs. We always ended lunch with a fruit, and ice-cream and the like were treats to have every now and again, maybe once a month if we were lucky and only during the summer. We ate cookies maybe only for breakfast. I never saw a candy bar until I moved to the US. Cakes were only for birthdays. I don’t remember eating that much sugar growing up, not because my parents forbid it or kept the candy away from us, it was just not part of the culture. It’s not that there aren’t sweets there, it’s just not ate in the vast quantities as they are here. All you have to do is think about how much candy is sold during the holidays. Isn’t Valentine’s Day about chocolates? Easter about candy? Halloween about candy? And let’s not talk about Christmas!
Just to illustrate, for dinner tonight I had steamed cabbage with salmon, which I considered a treat beyond measure. I know most people think I am crazy, but I will take that over any hamburger or french fries thrown at me any day of the week. When I was stuck at Stanford for a week with my son while he was getting his skin grafts I had a little salame sandwich for lunch and soup for dinner. Nothing sweet. While I was waiting for him to get through surgery I had a plate with cheese and grapes.  I will take a plate of cherries before I touch any potato chips. It’s just how I eat. What you learn as a child stays with you forever. Since watching the movie I’ve replaced my soda with Dasani Sparkling Water, which has no sugar or anything added. Since watching Food Inc we went completely organic as well, which I have a hard time explaining to my parents in Italy, since there “everything” is organic.

When I took my husband and SD to Italy several years ago they were fascinated by the supermarket. There were hardly any cereals, a good quantity of cookies of all kinds, since Italians love their cookies poached in their cappuccinos for breakfast, but what most impressed them was the variety of fresh vegetables, fresh bread galore, an entire isle of salames, and cheese…. cheese everywhere. So much cheese, really, so many kinds of cheese, cheese and more cheese. Did I mention how much cheese there was? All kidding aside, the culture is what differentiates what is important and what is not. There are a ton of laws in Europe to keep the food supply safe. Their Fanta, for example, hasn’t been “orange” since the 70s because the food coloring was banned. Guess what? It’s still orange here in the US. Ick. I am not sure the government is to blame or not, all I am saying is that perhaps the soda industry should want to care about their customers. But they are only in it for profit after-all. Aren’t they? They never will. Hopefully movies like this can produce a movement to wake up those sleepy heads in Washington. One can only hope.

In the meantime, take a look at your fork… what goes in is important, make it good!

Love & Light,

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Dumbing Down EB

This genetic stuff is confusing, I know! A lot of people do not understand it, they assume EB is an autoimmune condition or Nicky gets rashes etc, so I want to attempt at writing my own version of explaining EB in laymen’s terms. I am a fan of those Dummies books!

So, here goes:

What is EB?

EB stands for Epidermolysis Bullosa (ep-ih-dur-MOL-uh-sis buhl-LOE-sah). Mouthful, no? Most people cannot pronounce it, so most parents and Doctors just use the acronym “EB”.
The name is derived from the latin words epidermis (the outer layer of our skin),  lysis (loosening or breakdown) and bullosa (blister). Hence, Epidermolysis Bullosa means the breakdown and blistering of the epidermis.
This is all fine and dandy, but it’s not entirely accurate. There are three major forms of EB: Simplex, Junctional & Dystrophic, and the only form that blisters in the epidermis is the Simplex form. Junctional’s blisters are in between the epidermis and the dermis, and Dystrophic’s blisters form in the dermis, which is the layer below the epidermis.

EB Skin Structure

It’s also very important to note that EB is just an ‘umbrella’ word. A word that throws together all blistering conditions no matter how they are inherited or how they manifest themselves. Back in the late 1800s and early 1900s, when the words “Epidermolysis Bullosa” first appeared, the Doctors told patients they had EB if they blistered. It’s like if Doctors bunched up together all conditions which feature rashes (eczema, psoriasis, rosacea or shingles) or conditions that feature the progressive deterioration of nerve cells (Tay-Sacks Disease, Parkinson’s & ALS).
Because of this it’s extremely important to know that each form of EB is different in the way it’s inherited, in the way it manifests itself, in the way blisters appear, in the way the wounds are to be treated, the way skin heals, in quality of life, life expectancy and so on and so forth. EB is not EB in the sense that each form, in my humble view, should be called something completely different as to discourage comparisons. After all, you cannot compare Tay-Sacks Disease with Parkinson’s, or Eczema with Shingles.

What are the types of EB?

There are three main types of EB:

Epidermolysis bullosa simplex (EBS). Caused by a defective Keratin Protein, blistering occurs in the epidermis. This is the most common type of EB, and tends to be milder than the other types. Babies can be born with mild to severe life threatening blistering but almost always improve with age. Blisters heal without scars and do not cause deformities, however they are more easily obtained. Wounds tend to heal better if not bandaged since they are more superficial. There are many types of EB Simplex and most are caused by a dominant gene mutation. So far 12 subtypes have been identified, which can all look different.

Junctional epidermolysis bullosa (JEB): Caused by a defect in the Collagen XVII, Integrin, or Laminin, blistering occurs at the junction between the epidermis and the dermis. There are many types of Junctional EB, so far 6 subtypes have been identified. Blisters can heal with scars, but do not cause deformities. Some forms of Junctional EB improve as the patient gets older, while a rare form of Junctional (Herlitz) EB can be fatal in infancy.

Dystrophic epidermolysis bullosa (DEB): Caused by a mutation in the Collagen VII gene, blistering occurs in the dermis. The condition can be dominant (DDEB) or recessive (RDEB), so far 12 subtypes have been identified. Both dominant and recessive forms of Dystrophic EB cause scarring. Dominant forms rarely causes deformity of the hands or feet caused by the fusion of the fingers or toes. The recessive form of Dystrophic EB is the most severe, chronic type of EB. Patients get worse and worse as they age, not because the condition worsens per se, but because the wounded areas get weaker and eventually refuse to heal in areas that receive the most trauma. Blistering begins at birth or shortly afterwards. Much of the skin is covered in blisters and there is extensive internal blistering. Children can develop deformities caused by the recurrent scarring of the fingers and toes and the hands and arms become fixed in stiff positions. Bandaging is often essential to allow proper healing of wounds. It is painfully difficult for a child with recessive Dystrophic EB to ingest food due to the internal blistering that occurs in the mouth, esophagus, and gastrointestinal tract.

How is EB inherited?

Inheritance of EB is gender and ethnic-group non-specific. There are three major ways a child can be born with EB:

1. Recessively: Recessive forms of EB include all forms of Junctional and Recessive Dystrophic. Both parents have to be carriers (have the recessive gene) and they have a 25% chance each pregnancy of passing both of their faulty EB gene to their baby.
What is a Recessive gene? A Recessive gene is a gene that lays dormant in our system until it has no choice but to ‘wake up’. We all inherit a gene for everything from each parent, and the recessive gene is one that is automatically recessive. In my case, for example, I inherited a “good” skin gene from my dad (it’s plain as day I am daddy’s girl) so this means I inherited my ‘EB skin gene’ from my mom. When the two skin genes were coupled at my conception and one had to become dominant, the EB skin gene took a bow. Hey, it likes to sleep and we want him to sleep, don’t we? They automatically sleep. In my son’s case, he unfortunately inherited my EB skin gene, and by some twist of fate, his dad also had a recessive EB skin gene, so when the two got together… one of them had no choice but waking up. This is why Recessive conditions are so rare.

2. Dominantly: Dominant forms of EB include all forms of Simplex and Dominant Dystrophic. One parent has the condition and it has a 50/50 chance to pass it on to their child. Dominant genes don’t automatically sleep or nothing. They are out and about. This is why they are more common.

3. Spontaneous Mutation: EB also can be acquired through a spontaneous mutation. That is, a child is born with a dominant genetic mutation that causes EB (it’s always a dominant mutation, never recessive), despite neither parent having EB. When this occurs, it is because the gene spontaneously mutated in either the sperm or the egg before conception. There is no scientific evidence that the parents could have prevented such spontaneous mutation, and there are no known environmental, dietary or behavioral triggers for this type of mutation. To this, I might note, years ago a Vietnam Veteran made a point to state that one of his children and a few of his friend’s children who were also Vietnam Vets were born with Simplex EB, so he wanted to find out if there could ‘possibly’ be a correlation with Agent Orange or anything they might have been exposed while at war, but no real ’cause’ was ever found.

In an effort to be complete in my descriptions, I must note there is also an extremely rare form of Dystrophic EB called ‘Aquisita’ which is not inherited but associated with autoimmunity to type VII collagen and onset occurs only in adulthood.

Remember, EB is not contagious!!

How rare is EB?

An estimated 50 in 1 million live births are diagnosed with EB. Of these cases, approximately 92% are epidermolysis bullosa simplex (EBS), 5% are dystrophic epidermolysis bullosa (DEB), 1% are junctional epidermolysis bullosa (JEB), and 2% are unclassified. For the Recessive forms, carrier frequency ranges from 1 in 333 for JEB, to 1 in 345 for RDEB (More here on carriers #s).

I hope I made this as clear as possible, if not or if you have anymore questions, please ask me! Leave a comment below. I can also answer more specific questions regarding my son who has RDEB. While I have extensively researched all forms of EB I can only truly consider myself an expert on my son.

Love & Light,

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