EB Is Genetic. Yes, It’s True!

EB, yes, Epidermolysis Bullosa as it may, it’s probably one of the most misunderstood conditions out there. I wrote an extensive “Common Misconceptions” page long ago and even a long “FAQ page” for those with extensive questions about the disorder. These pages have been up on this website for over a decade, in an effort to shed the light on a condition that people have an extremely hard time understanding how it can be genetic.

recessive

Somehow it’s easy to understand how Down Syndrome or Cystic Fibrosis, for example, can be genetic. DS & CF families however, are never told they can cure their condition with food, herbs, or are told that either fluoride, aloe gel, gluten, a nutritional deficiency or a high protein diet can either ’cause’ their condition or… to my horror, claim they can vastly improve it or even ‘cure it’.
To add insult to injury, I was even asked once if EB is caused by the parent in any way… such as their use of illegal or legal drugs or by them using too much sweet-and-low in their coffee or anything of sort.

I am sorry to disappoint. The parent is not to blame, please stop blaming the parents, they did nothing. They were just unlucky enough to lose the genetic lottery. Yes, EB is genetic. It’s true! I am going to explain EB and keep it simple and concise.

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 are carriers and they have a 25% chance of both passing  their ‘faulty’ EB gene to the baby. (See image above)

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. (See image above)

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, 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 were born with Simplex EB, so 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 EB called ‘Aquisita’ which is not inherited but associated with autoimmunity to type VII collagen and onset occurs only in adulthood.

But don’t take my word for it. Visit the Debra Website, Mayo Clinic Site or even the Stanford Website for more info.

Do I think things such as food, herbs, diets or anything of sort can help? Of course I do, choosing the right food, vitamins and the right diet helps everyone, with or without EB. However, the way they might or might not help prevent or heal wounds in EB patients, which are caused by the skin which is not produced correctly to begin with, is either minimal or marginal.

Before EB was found out to be genetic, I suppose it was a little more acceptable, perhaps slightly palatable, to think people could believe it would be cured with food. Dr. Kozak believed this wholeheartedly back in 1982 (read the article published in People Magazine here), he even had his own Klinik in Germany, where Lillian Sparks took her son Byron to (she described the whole treatment in her book “Parents Cry Too“), where every three to five hours (even in the middle of the night), nurses would wash patients’ skin with alcohol, then apply lotions and bandages and fed patients food with no preservatives, drink mineral water and took multiple vitamins. In her book, Lillian stated pretty much all Byron ate was carrot soup. Did this cure or either improve his EB? It couldn’t have and it didn’t. Food cannot correct genes. They may help heal, but cannot prevent blisters. To that I must say, any EB patient that is confined to a bed and has no life to speak of for 11 weeks will improve, end of story.

Thank You for listening and understanding.

Mom to 3 boys, 1 in heaven, 2 on earth. My first son Alex (whose demise is most likely EB related) was stillborn at full term. After a miscarriage, I had my second son Nicky, who has the Recessive Dystrophic form of Epidermolysis Bullosa. My youngest son, Connor, is 100% healthy, and I never, ever take it for granted. I am an author, photographer, graphic artist, webmaster, blogger and more.

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My take-away from the Debra’s PCC in Orlando – Part 3

Before continuing with the blogs about the PCC I wanted to address a question that was presented to me: since Debra has stated that they would post the videos of the conference on their website, why bother doing the blog?
Aside the fact that I would have rather been ‘thanked’ than made me wonder if I am wasting my time, we do not know if Debra will post these videos next week or next year. But even if it’s next week, I also believe that the more ways this information is available the better, and this is what this website is about, INFO. But that’s just my opinion, take it or leave it.

Ok, now, let’s continue. The talks that followed which I will talk about today were about Prenatal Diagnosis of EB and Surgical Management of EB.

Prenatal Diagnosis of Epidermolysis Bullosa

This talk was presented by Dr. Sharon Glick and not surprisingly, I unfortunately did not take any notes, nor took photos of the slides. My apologies. I guess I thought this talk did not apply to me because I am a little too old to be having more children, and I did not learn anything new as well. If there was something new, I wrote it down. HOWEVER, here’s some links to know more about it and my summary of what I know about this topic.

http://www.debra.org/abouteb#prenatal

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2230038/

Basically there is no test to find out if you’re a carrier of EB (for Recessive forms of EB) prior of your child being born with EB. I get this question ALL THE TIME so I want to make sure I reiterate this point. I was told by various doctors that it would be like looking for a needle in a haystack.  Of course for the Dominant forms of EB it’s evident since one of the parents has the condition. Of course there is always that spontaneous mutation which is not inherited, but, I digress.  Determining the type of EB in a particular family member can be achieved through studies of a skin biopsy taken from the affected family member. The skin sample is then sent to a laboratory to confirm the subtype and the DNA mutation(s). This process may take several months, so they always suggest to do this BEFORE trying to get pregnant again. When a pregnancy occurs, DNA taken from the fetus can be studied for the presence of these mutations through CVS or amniocentesis. Preimplantation Genetic Diagnosis (PGD) is done prior to pregnancy, and improves the chances of having an EB free child. PGD is accomplished with in-vitro fertilization.
I wish I knew where to send parents for this PGD, I know of one clinic in New Jersey that does it (New Jersey Fertility Center) but not sure of others. I would suggest to contact the Debra Nurse, she is a wealth of information!  If you know of a clinic that helps EB parents with PGD, please leave a comment below. THANK YOU!

Now… here’s a little about MY particular situation, maybe someone can relate or this info can perhaps help. When Nicky was 9 months old (in the summer of 1997) Stanford took blood samples from him, myself and his dad to find out the genetic mutation. All of that came back inconclusive, Dr. McGuire wrote me a handwritten letter (which I still have, I can’t believe he actually hand wrote a letter just to me!) apologizing and said to try to re-do the test at a later date when technology improved. I was never aware technology improved until THIS PCC. That’s how out of it I have been! I was sitting next to Geri, the Debra Nurse, and she told me to do it now. Of course I would not be doing it for future children of mine but I am curious to find out if my Connor is a carrier or my niece Paola is a carrier. I have other nieces/nephews as well and if I can avoid another RDEB family member and all the pain and suffering associated with it, I will gladly do it. The problem is that I do not know if the insurance will pay for it this time, but maybe they will since the first time it didn’t work? I will certainly try to get a referral.

GeneDx (www.genedx.com) is currently performing genetic analysis for the most common known mutations of many of the forms of EB but it’s pricey, as I am told (around $6,000) and it’s hard to get the insurances to pay for it. Stanford is also doing a Characteristic Study for those that could travel there, and it’s free.

If anyone has anymore important info about this subject, please leave a comment below. THANK YOU!

Here is the video of this presentation, courtesy of Debra:

DNA Q&A Video:

Surgical Management of Epidermolysis Bullosa

Dr. Peter J. Stern did this talk about Hand surgeries for patients with RDEB. A lot of the slides were VERY graphic so I did not take photos of those-they were just hard to watch, even for me who has seen it with my own two eyes. Sigh.
First he went through the terminology, which includes words such as “non-pliable skin”, “pseudosyndactyly”, “thumb adduction”, “digital flexion contractures”, “acral osteolysys”, this last one meaning the dissolution of bone/nails.

He states, like the slide explains, that his Primary Goal with hand surgeries, depending on the level of deformity, is to make sure the patient can pinch and grasp things. Being able to pick up a pen and write for example, is a big issue. His secondary goals include releasing pseudosyndactyly to get the fingers in a more straight or at least curved mode rather than a fist so they may have some use of it.

He stated that he uses skin grafts for his hand surgeries, taken from another part of the body, and talked about the importance of pain medication and wound dressing/splints etcetera, making sure the wrist can rest in a neutral mode.

Now, here’s my 2c for whatever they are worth and what has worked for my son and my observations… this may or may not be what works for other RDEB patients, but it is what has worked for Nicky:

The first thing I wished I had known when Nicky was little was that the hand was not only going to web/mitten from wounds healing wrong, but ALSO from the thick scaly skin that eventually would become so tough that it would close the hand in a cocoon. This is why, in my view, Nicky’s hands mitten so fast without bandaging, the thick scaly skin does not grow and gets tougher by the day.
The bandaging instructions-complete with videos- are linked below, but I do something more to prevent the skin to get tougher which for my son is KEY: I wrap each finger with Vaseline Gauze, which lately I coat with various oils that soften the skin even more, such as Coconut Oil, Vitamin E, and I am now trying this Argan Oil, all soften the skin even more. I also SOAK his hand in these oils before rewrapping them. My goal for Nicky is to make these hand surgeries as RARE as possible by preventing the skin to get that bad to begin with. My post with post-surgery pics from earlier this year is here. Note that I was able to prevent a repeat surgery on that hand for 12 years while keeping the mobility of the hand this way, and Nicky would not have it any other way.

Dr. Ladd from Stanford, which is Nicky’s hand surgeon, does not uses skin grafts, but does uses the pins like Dr. Stern showed, and a cast. She cast the hand in a splint, well bandaged, and takes it off 2 weeks later. We were very happy with the results, but knew first-hand that it would take at least 6-8 weeks for the hand to completely heal  and that we had to make sure to wrap it with the appropriate tension to keep the improvements achieved by the surgery. 8 weeks later we started the weekly physical therapy and Nicky uses a nightly splint to keep the thumb out and the palm open. He is so happy with the surgery that he now wants to do the other hand, which was operated on 10 years ago.  The only problem with that hand is that the pinky has now ‘disappeared’ in the hand and the thumb is almost unusable due to the webbing. The other 3 fingers though are GREAT! All thanks to the wrapping, no doubt. Now with the addition of the oils and splints I know I can make a big difference and keep the hands from webbing even longer.

Here is the video of this presentation, courtesy of Debra:

Here’s the presentation about hand surgeries done at the 2010 Conference:

GO TO PART 4 NOW –>>

Links to — > Part 1Part 2

Mom to 3 boys, 1 in heaven, 2 on earth. My first son Alex (whose demise is most likely EB related) was stillborn at full term. After a miscarriage, I had my second son Nicky, who has the Recessive Dystrophic form of Epidermolysis Bullosa. My youngest son, Connor, is 100% healthy, and I never, ever take it for granted. I am an author, photographer, graphic artist, webmaster, blogger and more.

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My take-away from the Debra’s PCC in Orlando – Part 2

Day 2 at the PCC was the most intense one, 15 speakers in all! Here’s what the first 2 speakers of the day had to say:

What are the odds?

Dr Amy Paller conducted this talk about genetics and EB. This talk to me was old news, blah blah, ha ha. I am certain that new parents appreciated the info though. I only took photos of a couple of slides, but I found this graphic online which perfectly explains the genetics behind EB she explained.
Basically, depending on the form, EB can be inherited either recessively or dominantly.

Recessive forms of EB include any form of Junctional and Recessive Dystrophic.

Dominant forms of EB include all forms of Simplex, plus Dominant Dystrophic.

In Recessive Inheritance, both parents carry a normal gene (N), and a faulty, recessive, gene (n). The parents, although carriers, are unaffected by the faulty gene. Their offsprings are either affected (25% chance), not affected  (25% chance), or carriers (50% chance). Each new pregnancy is a roll of the dice.

In Dominant Inheritance, one parent has a single, faulty dominant gene (D), which overpowers its normal counterpart (d), affecting that parent. When the affected parent mates with an unaffected and non-carrier mate (dd), the offsprings are either affected (50% chance) or not affected (50% chance), but they are not carriers. Once again, each new pregnancy is a roll of the dice.

Of course, things are not always so simplistic. Dominant conditions can be ‘flukes’ at conception, also called new “spontaneous” mutations, meaning they are not inherited. The parents can have other children without risking giving their newborn EB again because the DNA mistake occurred sometime “after” the egg and sperm got together and not before.
On this slide, Dr. Paller was showing how a patient with Dominant Dystrophic EB had a child with a carrier of Recessive Dystrophic and their child was born with RDEB.

Confused yet?

Here is the video of this presentation, courtesy of Debra:

Here is the presentation about this subject from the 2010 Conference:

Update on Genetics and Stem Cell Therapies

I am a big fan of Angela Christiano, so I was eagerly awaiting her talk, which proved to be extremely interesting. Dr. Christiano talked about 3 specific things that pretty much blew me away. I hope I can explain them as clearly as I can in laymen’s terms!

1. Everyone knows of the risks of the Bone Marrow (Stem Cell) Transplants… but wouldn’t they be MUCH safer if the donor was the patient itself? What they are working on right now is harvest the patient’s own skin cells, modify them (correct the faulty gene-here’s the slide with how they do it… clear as mud, no?) and then grow the bone marrow of it to use for the transplant. While this patient might still need a low dose of chemotherapy before the transplant to allow for it to take, the amount of immune suppressant drugs needed would be GREATLY reduced. She stressed this is MANY years away, but oh, SO EXCITING!

2. They are working on a cream to use for Simplex patients… it’s called ‘RNA Interference Treatment‘. They are using the work done for another skin disorder effected by the Keratin called “Pachyonychia congenita“. In laymen’s terms, this cream would switch OFF the faulty gene. Debra UK is doing a project right now, details of that are HERE.

3. As if the above is not exciting enough, she also spoke about her Mosaic Study.  Evidently there are some EB patients that have ‘patches’ of skin that do not blister and have never blistered, and when biopsied they found that they do make the protein lacking elsewhere on their body. I found this article online from the Netherlands and they called it ‘Revertant Mosaicism‘. I am unclear how they could use this information to help EB patients. I am SURE Dr. Christiano said it, I just can’t remember. The article linked above talked about screening these regions for genetic reversion and revertant-cell therapy with the use of the patient’s own naturally corrected cells for autotransplantation. If anyone has anymore info, PLEASE leave a comment below!

One last thing that Dr. Christiano mentioned is to please contact her if you are or know an EB patient that has “normal” patches of skin for her study.

Here is the video of this presentation, courtesy of Debra:

GO TO PART 3 —>>>

Part 1 is HERE.

Update 8/7/2012

Emily Gorell from Stanford relayed to me that  if you have questions about revertant mosaicism, they are actually working on that also and she is happy to talk to people about it, along with their studies in gene transfer, and induced pluripotent stem cells. More info on their website: http://dermatology.stanford.edu/gsdc/eb_clinic/trials/index.html

Mom to 3 boys, 1 in heaven, 2 on earth. My first son Alex (whose demise is most likely EB related) was stillborn at full term. After a miscarriage, I had my second son Nicky, who has the Recessive Dystrophic form of Epidermolysis Bullosa. My youngest son, Connor, is 100% healthy, and I never, ever take it for granted. I am an author, photographer, graphic artist, webmaster, blogger and more.

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