Through the years of running this website I’ve been asked questions about Epidermolysis Bullosa that follow in the category of misconceptions. People believing some things regarding this condition that are false. This is not only from strangers, friends and family, but from the medical community, as well as actual EB patients and parents. I’ve asked other parents and patients to give me their input of what the most common misconception about EB is that they have encountered and that ishow I came up with this page. I add to it regularly when new misconceptions arise.
Here are the most common ones in an effort to educate everyone about EB. Please note… I am posting most of these questions verbatim, exactly as they were asked.
Q.Is EB caused by the parent in any way? By their use of illegal or legal drugs? By them using too much sweet-and-low in their coffee or anything of sort?
A. Epidermolysis Bullosa is a GENETIC condition, much like Down Syndrome, Cystic Fibrosis or Tourette Syndrome.The gene that causes EB was finally found in 1993. Before then there was a lot of speculation as stated in the question, and much fault was put on the parents. EB per se was first written about in the late 1800s, before then surely patients would die and nobody knew why. EB has been around forever because it is an equal opportunity disorder, being equally present in ALL RACES and GENDER. Parents have absolutely NO responsibility and are not ever to blame over how it manifests, as it is in our genes, much like we have blue eyes or blonde hair.
In brief, some forms of EB, such as Recessive Dystrophic and any form of Junctional, are indeed a gene that is recessiveand it only shows up if mom AND dad are both recessive carriers, healthy carriers. But the baby must inherit BOTH to have the condition. If he/she only inherits one he/she will be a healthy carrier like mom and dad. Hence two healthy carriers have a 25% chance of having a child with EB.
Dominant Dystrophic and Simplex are ‘flukes’ at conception, much like many other conditions, such as Trisomy 18, and once the patient has it, it is then a dominant condition, hence the patient has 50% of giving it to their children.
Q. Can antibiotics CURE EB?
A. EB is not an infection, it is a genetic defect. No antibiotic could cure EB, much like an antibiotic cannot cure Cystic Fibrosis or Down Syndrome.
Q. There must be a way to prevent EB, isn’t? What precautions can parents take?
Because EB is not a disease, but a genetic defect, there is nothing that can truly be done to prevent it. In most cases, the parents are oblivious they are even carriers, and since the DNA is so tricky regarding this, they can’t even be tested for it. In the cases where this is a ‘fluke’ at conception, well, that certainly can’t be prevented.
Q. If the slightest touch hurts the skin, how come bandages don’t? I don’t get what it means by “touch” or”contact.” How do EB patients lie in bed, sit down, hugged, carried,etc?
A.The answer is two-fold, because it really depends on the form of EB.
With Simplex EB, indeed bandages “might” cause more harm than good. The wounds are superficial after a slight bump, and bandages cause sweat that can cause more blisters. This, of course, if the wound is rather small. If a wound is large it may need to be bandaged anyway to promote healing. In simplex, and especially with babies, a small pressure of the skin will cause a blister, bandaging does not press the skin, hence does not usually cause blisters.
In RDEB (Recessive Dystrophic) the blisters are from friction, not pressure, hence the bandages actually help getting less blisters because they act like protection against the normal scratches and bumps that would tear up the skin immediately.
Patients can lie in bed, but they usually have to have very soft sheets or padding of some kind. Sitting is okay, but a lot of patients do need some extra padding on a hard chair. Patients can be hugged gently. Patients will need to be carried in a way that does not cause any kind of friction, absolutely NOT under the armpit for example, and more cradled like babies, without using hands but arms under the buttocks or legs.
Q. Do you use antibiotics all the time to treat infections?
A. Unfortunately if the body is given too many antibiotics all the time, such as bactroban, it can build a resistance to it. Hence it is vital to make sure the patients develops a strong immune system to fight infection on their own and not always rely on antibiotics of any kind. Antibiotics should be used sparingly and onlyi f they are really needed to ensure that when they are indeed needed, they will WORK!
Q. Are EB blisters like rashes, red areas or sores of Eczema or Psoriasis patients? Is EB just perhaps a more severe form of these conditions?
A. No. EB blisters are indeed wounds, not rashes orsores. In the cases of RD they are second degree burn-like wounds-the kind they hospitalize people for. Eczema and Psoriases are NEVER, EVER to be confused with EB. Even in theire xtreme cases they are vastly different from EB, and never as serious. It needs to be understood that the blisters normal people get are not the kind of blisters that EB patients get. They are much, much more severe.The protein that acts as a glue between the layers of skin is not produced or not enough of, causing the skin to peel off. Leaving 2nd degree burn-like wounds on RD patients.
Q. Won’t wrapping the hands cause children with EB to be very behind for their age group with using their hands?
A. The first thing to understand that is very important is that it is cruel to “expect” any child with EB with their fragile hands (and this is most especially for those children with the more severe forms of EB) to be able to do all the things a normal child does. I am not saying here to ‘not let the children try things’ , what I am saying is ‘do not expect’, big difference. Their little hands hurt very easily, and they “might” (depending on severity)never be able to do even a fraction of what healthy children can do, so, as advice to parents, it’s always suggested to throw out the window the notion that your child with severe EB can even remotely have normal hand use and to expect your child to be behind in this area. Having said this, things vary differently from form to form. With the more severe forms of EB it is more important for the child’s hand to be protected and safe than worry about development-children WILL learn to do things, adapt andd evelop at their own pace and figure out a way to do things.
There will never be a need to wrap or protect the hand of a child with a mild form of EB at all (such as DDEB, Simplex andJ unctional non-herlitz), but it is essential with severe forms, and especially so with the disfiguring form, which is Recessive Dystrophic.The hands of children with Recessive Dystrophic, if not wrapped, WILL web and contract, becoming unusable or close to it as time goes on, needing painful reconstructive hand surgeries to restore at least some function. Hence, with RD, the wrapping serves more than protection from wounds orcovering wounds, it literally is a form of physical therapy, because by using slight pressure the fingers are kept apart and straight. The gauze also serves by giving the patient’s fragile skin a little more strength in pulling and pushing.
Q. Do people need to keep their distance from EB patients so they won’t catch it?
A. EB is not a disease or an illness like Chicken Pox or HIV. It cannot be ‘caught’ by being close to a patient, much like youc annot ‘catch’ Down Syndrome by hugging them or sharing a drink with them. EB is a birth defect, the defect lies in the DNA, in the genes. It is perfectly safe to hug and kiss an EB patient, EB is not contagious.
Q. How can twins be born one with EB and one without if EB is a genetic condition?
A. While that is true for identical twins (meaning, if one identical twin has the condition, the other one, by virtue of the DNA being identical, must have it as well), that is not always the case for fraternal twins. In fraternal twins it is very possible to have babies where one has a genetic condition like EB, and one not. Just like one baby can be born with down syndrome, and the fraternal twin be perfectly healthy. A recessive condition has a 25% chance of developing, and it’s ar oll of the dice each pregnancy/baby.
Q. I saw on TV a show about a child with EB who got skin grafts and she is now basically cured! Why can’t all patients get this skin graft?
A. Dateline NBC had a special in conjunction with People Magazine about Medical Miracles in the summer of 2001. The child that received this treatment, Tori Cameron, was the first EB child to receive a skin graft called Apligraf in an effort to heal her extensive wounds. Tori suffers from the Simplex, Dowling Meara form of EB, which can be quite severe at birth. Because she was the first patient to receive it, and it worked in closing her wounds, she made national news and appeared in shows such as Headline News, Extra and Dateline. Apligraf has since been used in many patients in an effort to close their wounds.
2 things are important to know:
1. Tori’s form of EB dramatically improves with age regardless of any skin graft.
2. Apligraf only has about a 50% success rate, but all it does is close the wound, it does not cure EB because skin grafts cannot alter the patient’s DNA unless they are made to do that specifically. The patient can and will eventually re-blister in the spot where the Apligraf was placed. Stanford is working on skin grafts which are made to specifically replace the patient’s skin, and in that case they would indeed ‘cure’ that area where the skin graft will be put, but the treatment is a few years away at best.
Q. Does EB spontaneously appear at 3, 4 or 5 years of age? Could it be a side-effect from vaccinations? My girlfriend is 45. She says her EB showed up when she was 5 years old.
A. Patients are definitely born with EB. EB is a genetic disorder, and to say that it didn’t “show up” until the patient was 5 years old is like saying that the baby was born healthy and then at 5 years old all of a sudden he/she had Down Syndrome! It just cannot be. Maybe your girlfriend was very mild before and then something triggered it to make it worse or does not have EB at all. No vaccination could ever cause this, because vaccinations do not alter the DNA. The vast majority of patient’s EB is diagnosed immediately or when it starts to show which is usually within the first few months of life. In some babies it does not show right away because the baby still has some of mom’s good fluids in its system. There is only one form of EB (aquisita)that all of a sudden shows up in later years (there is one documented case of a patient being in his 30s, usually it is much later, 60s+) when the body becomes weak and stops producing enough of the protein, but that is very rare.
Q. There must be a lotion or a cream that can heal that right up! I bet that products for sensitive skin would heal EB!
A. Creams and Lotions can help in the healing, but because this is a genetic defect, they will not get rid of the condition per se. EB cannot be cured by creams and lotions just like Sickle Cell Disease cannot be cured this way. Genetic Conditions can’t be cured with any sort of cream unless they can alter the patient’s DNA.
Q. Why does bleach in baths helps EB patients?
A. Bleach Baths help because they kill germs that cause infections. Infection is the #1 killer of EB patients.
Q. If you starve a baby long enough, she will nurse or eat.
A. While this might be true for healthy children with no mouth involvement, children with EB of any form can and will blister and have raw areas in their mouth, throat and esophagus making it extremely painful to eat. Doctors not familiar with EB have told parents not to force their babies to eat, that if they get hungry enough they would suck and swallow their milk. These babies are in too much pain to actually eat, and they can and will act hungry and will keep dropping weight. It is in these instances that a G-tube becomes a life savingoption. The point is, don’t starve your babies! Get help.
Q. I heard that a high protein diet causes blisters. Since EB patients need to be on high protein diets, could it be that that is the reason why they blister?
A. Patients lose so much blood and nutrients from their wounds, they need to get high protein from anywhere they can find. Wounds can cover most of an RD patient’s body, hence the body needs to make it up somehow. No high protein diet would ever cause any symptom that is anywhere close to what RDEB patients endure
Q. Don’t Herbs and Plant treatments help cure EB?
A. During the time that it was not known what caused EB (before it became known that it is a genetic condition) patients were often treated and maltreated, put through every herb and plant treatment known. Nothing ever worked. Whether herb or plant treatments can somewhat help EB symptoms has never been fully proved, surely they can’t hurt, but it is an impossibility for these to cure EB unless they can alter the patient’s DNA.
Q. Can EB disappear, I mean, completely disappear with age?
A. EB can’t per se disappear because the mutation lies in the genes. EB is not a virus or a disease, it’s a genetic mutation, and the genes don’t mutate by themselves. There is an extremely rare form of EB called ‘transient of the newborn’ where it does go away around the child’s first birthday, but the patient’s DNA was not altered per se, the child simply had a late start on producing the missing protein.
Q. There must be a typical diet for EB patients, isn’t there?
A. There is no typical diet for EB patients, because every patient is different. Those whose mouth is sore with wounds can only eat usually mushy liquid fluids, those whose throat and esophagusis damaged, they get the tube. Most others can eat whatever they want with caution, of course.
Q. Why do patients get EB?
A. … for the same reason why you have blue eyes or brown hair, or get Down Syndrome instead of Sickle Cell Disease, or why some women get Breast Cancer at 30 and some at 60, and some never get it. There is no rhyme or reason, sometimes is just bad luck, or something inthe genes that is incorrect… every human being is a carrier of at least 7 potential gene defects lying dormant in their system, waiting to be passed on to the next generation. Some get lucky and don’t pass it, some however…
Q. I bet there are no books about EB.
A. For books about EB please refer to the Books Category on this website.
Q. Do patients recover from EB?
A. There is no way anyone could ever recover from EB. Patients with the simplex form improve in the first years of life, and then again somewhat improve after puberty, but that’s all. Think about it like this. Do your blue eyes turn brown later in life? No. That is because it’s in the genes. It is impossible for a patient to lose their blue eyes like it’s impossible for them to lose their EB or their Down Syndrome. As far as if the condition gets worse or improves with age, that depends on the form. Simplex improves with age, Recessive Dystrophic gets worse due to the constant breakdown of the skin and severe scarring.
Q. Nobody cares about EB because is so rare, I bet there is no one looking for a cure.
A. Stanford is working on Gene Therapy for RDEBat the moment with success. So is a Dr in Italy. The University of Minnesota has started Bone Marrow Transplants on young RDEB children and some have been successfull, particularly those that have a sibling donor. There are injection therapy trials all over the world. There is hope.
Q. Does a skin area damaged by the EB get deep red and sore and itch and be hot to touch at one moment, and then maybe an hour later, be more faded, a more normal skin temperature, and maybe just itch a little?
A. A blister on an EB patient is a wound. Is not a red area that an hour later is more faded. A wound is a wound and needs to be treated as such. On RD patients it’s actually a second degree burn-like wound.
Q. Do all EB patients have Allergies?
A. Not all EB patients have allergies. It just depends if they are predisposed for it. I know many EB patients who are not allergic to anything, it just depends on their genetic make up like normal people.
Q. EB patients cannot be out in the sun, right? I bet they blister in the sun.
A. EB Patients do not sunburn easier or faster than anyone, wowever, a bad sunburn would be surely quite more painful and severe than for you and me.
Q. Why do patients die of EB?
A. EB patients don’t die from EB. They die of infections, anemia, organs that are weak because of lack of nutrition or secondary damage or skin cancer. All of these are side-effects of EB.
Q. Are all forms of EB considered ‘Lethal’?
A. Any condition that is labeled ‘Lethal’ (also known as TERMINAL) implies that, upon diagnose, the patient will die from the condition sooner or later. The only two forms of EB that are considered lethal are Junctional-Herlitz and other Junctional forms (such as Pyloric Atresia) and RDEB. Junctional babies usually die before their first birthday, while RDEB patients live a painful life that can range from 0-30+ years in most cases, although there have been patients that have lived longer. The causes vary, usually ranging from severe Anemia, Infection and Skin Cancer.
Yes, other forms of EB ‘can’ be lethal too, but not by definition, as in the vast majority of cases the patient has a normal lifespan. Some old textbooks and Doctors will say that babies born with a rather severe form of EB Simplex called Dowling Meara have a 25% chance of dying their first year of life, but the validity of that statement has become questionable in recent years due to advances of antibiotics and wound care. The National EB Registry lists EBS-DM patients as having onlya 1.44% chance of dying at any age.
Q. All EB patients can die of Cancer, right?
A. Yes and No, it depends on the form. While there is only a minute chance of Simplex patients to develop Cancer (1 in 100 in their lifetime), with RDEB patients, in most cases, it is unfortunately not a matter of IF, but a matter of WHEN.
I found this very interesting page with Cancer in EB patients statistics you mightwant to check out: http://www.med.unc.edu/derm/nebr_site/cancer.htm
Basically, up to age 40, there are virtually NO instances of SCC (Squamous Cell Carcinoma) for EB patients unless they have RDEB. RDEB patients have a 6% chance of getting SCC at 20 years of age, 21% chance at 25 years of age, nearly 40% at 30 and 53% at 35. Even at 60 years of age, Junctional patients have never been reported statistically as getting SCC at all, simplex patients only have a minute chance of getting SCC, barely over 1%, DDEB patients almost 4% at 60 years age, but, in contrast, a 76% chance for RDEB patients.
As far as Malignant Melanoma, this is actually fairly rare to get, barely 1-2% by 55 years of age with all forms of EB except for Junctional, with a 0% instance.
For Basal Cell Carcinoma, they state that by 40 years of age <1% of all patients with EB simplex and DDEB have experienced a BCC, higher with RDEB, with 4%
Q. What is the medical explanation for some people with EB living to be 72 and others maybe only 10?
A. One word: severity. The patient that dies at 72 age has a much milder form of the condition than the 10 year old. It is also true that perhaps the 72 year old was much better cared for than the 10 year old. Perhaps the parents of the 10 year old were living in a poor country or were not aware of how to properly care for their child. It is all up for debate, however, in most cases, it is a case of severity.
Q. Do all EB patients have to have a G-tube?
A. Again, this depends on the form and severity of their form. Simplex rarely has problems in the mouth, but IT DOES HAPPEN! Most if not all Recessive Dystrophic patients, however, can and will blister everywhere…lips, tongue, gums, mouth, throat esophagus. Some patients may be able to eat enough by mouth (which is then usually mushy or liquid foods) and others cannot, that is why those patients might end up with a Gtube.
Q. I believe mouth blisters might not be from having EB, but from the dental fluoride treatment or the toothpaste with fluoride, or the children’s multivitamin with fluoride, etc. Which the parent thinks is good for the child!
A. Fluoride could never cause the damage to EB children’s mouths that I have witnessed. If so, any child with fluoride treatments would have their gums webbed, tongue adhered to the bottom ofthe mouth, and scarring in the esophagus, which, as we know, does not happen. Nicky was not on fluoride treatments when his mouth blistering started (at birth) and is not now, although he should, and he still blisters badly.
Q. I think that if EB patients could get laser treatments to ‘burn the scars off’, healthy skin would grow underneath!
A. I myself do not even know if the above statement would even work on a healthy patient, but even if it was true, and, for conversation’s sake, let’s say it is true and the scars would ‘burn off’ and healthy skin would grow underneath on a healthy patient and it was tried on an EB patient, even if the treatment would work, the patient would still have EB after all is said and done. He/she would still get blisters and still scar. This is because EB is a genetic defect, and no laser treatment can cure EB unless it can magically alter the DNA of the EB patient.
Q. Instead of wrapping these children from head to toe, isn’t better to dry out the wounds?
A. While that is possibly the preferred method with most children with simplex, very mild dystrophic and even some junctional non-herlitz patients, simply because the wounds are superficial and don’t normally scar because they lie within the epidermis, or the wounds are few, letting the wounds dry with moderate to severe Dystrophic patients means they will scar and also cause deformities in the extremities. Wounds can also develop infections if air dried, and it has been observed that moderate to severe children with RD that are never wrapped have a much shorter life span because most of their little bodies are covered with scars. A scar is weak skin that can brake down much easier than an area that was properly healed, hence these children develop huge areas of weak skin that once breaks down will be open forever and have a high chance of developing nasty infections and even become cancerous in later years.
Bandages for RD patients serve many purposes: They allow for proper healing of wounds, they protect the healthy skin from braking down in the first place, and they allow the patient to do much more than without it. Most patients could not even walk without bandages on their feet. In areas where a bandage cannot be put, it is strongly recommended to keep the area moist by applying either zinc oxide 40% or Aquafor or any ointment twice a day to allow moisture to penetrate the wound and heal it properly.
Q. Is it common for those with RDEB to need diapers? If so may I ask the cause??
A. Many parents of severe RDEB children have many issues regarding toileting. Many children just can’t walk to the toilet and/or may not be able to take their underwear down if they tried due to wounds on their hands or deformities. Others can’t sit on the toilet due to many wounds on their bottom, others yet hold it in constantly because they are afraid of skin tearing in the anus and are extremely constipated. This is a psychological issue that many patients with this form of EB have, and it may not be until they are older that they can solve it, because they have to want to solve it themselves. No trying talks or bribes truly work. Children that get accustomed with holding poop in end up leaking poop all day long which makes it impossible for them to wear any underwear. The only way they’ll go is if enough laxatives are given so they have no choice but go because it’s basically liquid, which makes it even more impossible for them to wear underwear. The fact that RDEB children are anemic and we have to give them iron does not help either, since iron constipates. It’s a losing battle and for many severe RDEB children diapers are the only answer…
Q. Why do some RDEB patients require blood transfusions and why are family Drs suggesting to have this done? In what ways does it help??
A. My Nicky’s pediatrician referred him to a hematologist because Nicky had no energy and he had been severely anemic for a very long time. Nicky’s hematologistis is Dr. Coates, which spoke at the conference about EBers problems related to anemia. He is not only an expert hematologist, he is an expert in hematology and how it relates to EB.
Nicky’s blood count had been dangerously low for along time, but at this time they were below borderline. Having a very low count means he’s extremely anemic, which means that Nicky’s life was in danger if nothing was done. A blood transfusion gives him some iron-rich bloodplus trasferrin (sp?) which he was also missing. Transferrin is something the blood needs to have to absorb iron in foods and supplements and that somehow many severe RDEB patients lose after several years of bleeding through the wounds. After a couple of blood transfusions he started iron-transfusions which work better since his blood now has the trasferrin which enables his blood to absorb the iron.
Most RDEBers have this problem and a few children have even died because of it…
Q. For those w/spontaneous mutations for the first time in the family, I am not totally convinced it isn’t something in the environment. I understand that the recessive types occur when two people carry the gene and if you have a dominant type and pass that on as well… but I still don’t understand how it could just occur out of the blue…?? Especially when there are other types out there you have to have/carry for your child to have it and it’s called the same thing? Are the other conditions that can occur spontaneously as well?
A. There are alot of conditions out there that are ‘flukes’ at conception, so many things can go wrong during conception I often wonder the wonder of nature of how many people are actually born healthy to be honest! LOL. But… I digress…
A few years ago there was a group of Vietnam Vets that contacted me because many of them had children with EB Simplex, which as we know, it’s a dominant condition and a fluke at conception. They thought there was something to it. We went back and forth for a while, and we never came back to a conclusion. It is possible.
As per your question regarding how a condition that is a fluke at conception/dominant can be associated to a recessive condition that someone carries… the answer is actually quite simple. It’s because of the nature of the beast. Even though they are two different beasts, they are associated because the symptoms are similar:Blistering. You have to remember that the word EB is just an ‘umbrella’ for various blistering conditions, something Doctors associated more than a hundred years ago. We often speak how Simplex is vastly different from Dystrophic and how Dystrophic is vastly different from Junctional etcetera, so different that they are treated quite different and the same type of products do not work from one form to another. They should not be listed with the same name (EB), but they are because it was something done before they even knew of all the differences. The word EB per se means the blistering of the epidermis, and if you think about it, it doesn’t really fit the dystrophic forms because the blistering forms in the dermis, not in the epidermis! But, again at the time EB was named and all the forms associated, they weren’t even aware of any differences, and now it’s too late to change it!
Q. I saw a documentary about a man with EB and the narrator stated that he never went through puberty. Why is that? What causes it? Is this a common problem with EB patients?
A. It’s important to understand that going through puberty requires a lot of calories and nutrition. In general, people who do not have much food to eat or are unable to eat much will have a delayed puberty or will not go through puberty at all, and this is the main reason why RDEB patients sometimes do not go through this stage of life. Why is that? RDEB patients have a scarred and strictured esophagus, and eating is always a big problem in general due to the mouth and throat being prone to easy blistering and painful sores. This is not the case for Simplex or Junctional patients, as their mouth, throat and esophagus is not normally damaged nor CAN get damaged to the extent that they cannot eat enough to sustain them. However, it is a HUGE problem for RDEB patients. My son Nicky, who is 8.5 years old as I write this, most likely would not be alive today without his g-tube and his constant throat dilatations to enlarge his esophagus that has been so closed up, the passing was only 1mm large. Because of the g-tube feedings now he is as big as a normal 8.5 year old would be and will most likely go through puberty without any problems. G-tubes have only been around since the early 90s.
Q. I noticed that RDEB patients seem to have a discoloration of the skin. Why is that?
A. The skin is not really discolored. Most RDEB patients are very anemic due to the heavy loss of blood through their wounds, and lack of iron in anyone’s blood will make the skin look very pale.
Q. Does EB effect the teeth, and if so, how? Does it affect the gums? I was looking at a picture of a child with RDEB (Nicky) and noticed that the teeth looked different.
A. While some forms of EB (namely, Junctional) do effect the teeth (Junctional patients have very fragile teeth), the form of EB Nicky has (RDEB) does not effect his teeth per se. However, the problem arises in the fact that he cannot brush his teeth like normal people. Brushing his teeth like we do will cause the skin of his gums to fall off and would be excruciatingly painful. That is why many RDEB patients do lose all their teeth eventually, simply because of the inability to clean them properly. Mouthwashes and other methods have worked a little, but never fully.
More Questions and Answers that were sent to us.
Q. Is it the type of shoes you wear that causes the blisters?
A. No, I can get the blisters while goingbarefooted. I have the Localized Simplex Weber-cockayne disorder. I getthis question all of the time. ~Cindy
Q. I was scarred from burns all over my body. I went to a herbal doctor, and got on an herbal diet, and now my wounds are healed and I have little or no scarring. Can’t you do that for your son who has DDEB?
A. This question was asked to me by someone in a court house who happened to see my son’s DDEB from down the hall. Although herbal medicine, may help a little, it will not cure EB. Herbal medicine cannot change your genes. Since EB is a genetic defect, herbal medicine may help with healing, but will never CURE EB. ~Dawn
Q&A about Recessive Dystrophic EB -Hallopeau-Siemens
Will the skin get better with age?
No. With RD, the more it has broken down, the easier it breaks down the next time. Andeventually, it does not heal at all. It is open to such a depth that it is extremely prone to serious infection. Strictures, mittening and syndactilly occur. Fifty percent of RD patients beyond the age of 10 develop Squamous Cell Carcinoma. There are RD patients who had multiple amputations before succumbing to this cancer. When the average person with RD passes away, the breakdown of skin is to the point that 75% of tissue lacks the ability to regenerate. The bottom line is, the skin does *not*get better in RDEB as it can with Simplex diagnosed individuals.
How healthy are RD patients?
Individuals with RDEB suffer from extreme malnutrition and are notoriously underweight. Some never even undergo puberty. The body puts all of its resources and energy into healing and fighting off infections, and growth and development come last. The 80-pound range seems to be a top figure for weight. Internal damage contributes. The mouth is constantly a mass of open sores. It strictures as it heals, causing macrostomia, tied tongues, and reduced ability to eat and drink. Esophageal dilatations are a way of life for many. G-tubes are common.
Does it get easier to handle emotionally?
Do you feel more upbeat as your child fades and is in more and more pain? Of course not. And even worse, you are the one that HAS to cause much of that pain, because if you don’t–the consequences are unthinkable. You have todo the zombie thing and poke and cut and bathe, smear medicine on areas too sore to even expose to the air without hurting them, and bandage thec hild. This is against everything that is in the handbook of lovingparenthood, of nurturing. Deliberately causing pain, even though it is theo nly choice, is not particularly high on the list. Do we get more calloused to this? Oh, dear God, I pray not. How could a nurturing parente ver lose compassion for their child’s pain. How could we ever accept their loss without extreme anguish, and accept it we must, without the future so-called “cure.” Until the medical community perfects a treatment plan, our challenge is to keep our children as whole as possible. To keep them alive. So many are dying around us! A number of children on theEB/NuSkin film (made with Steve Young) have passed away or are in the process. And yet we must go on, and encourage our children to live a life that is as normal and rich as we can make it. We must give them as much life as they can handle. We must not let our knowledge of what may lie in the future color their lives, and we must be upbeat with them.
Thanks to Sheri for writing this Q&A and helping me with the rest of this lengthy description!
Bath and bandage change times are hardly fun times for either the patient nor the caregiver. The kids are scared of the ‘upcoming’ pain and they scream and holler in discontent. My son even hyperventilated-always did. He will do just about anything to get out of it, even take a nap (which he will always resist in taking otherwise).
We talked of little league, climbing trees, riding bikes, high school sports, and all the girls hearts they were going to break. We were ready for anything, or so we thought.
I kept calling the NICU to get updates on Andy. I felt such a loss not being there for him and not being able to breast feed. I asked to go down there to do that for him, but they stated that he would not be able to due to blistering. I still did not have a firm grasp on what this disease was. I was finally able to go see him. There was my little boy in a glass box wrapped with gauze and boo-boos on him. When they handed him to be he was on a large piece of wool. I didn’t think that I would ever stop crying. How could this be happening? I did everything right. I immediately blamed myself. I’m the one who carried him the last nine months, I must have done something wrong.
Finally with both the boys home we were ready to go on with the rest of our lives. We learned quickly how to bandage and were doing his dressings in record time. Mechanically things were going well, emotionally it was tough. We were basically alone other than visits here and there from family members that lived out of state. Having twins is difficult, but having one with difficulties almost seemed impossible. EB is a painful disease. Having to hear your child cry daily from dressing changes and baths, it breaks your heart and leaves you feeling helpless because you can’t do anything to take the pain away. There were many times after his birth that we wished his life would end. He could go to Heaven and be pain free. It was not fair for someone so small to have to endure this. There were many times when I would just break down. I would hold Andy and tell him over and over again how sorry I was. Through all this we still had to remember that we had another little boy who needed just as much love and attention. He had the instinct to be calm while Andy was being tended to and when that was done he would act up and we would care for his needs. There were many times when Alex would be calmly playing while we are tending to Andy and if we poked Andy with a needle Alex would cry out too.
We always thought we would have “perfect” kids. We took it for granted that we would. Why would anything go wrong, that happens to other people. You learn to appreciate many things. We appreciate the moments when Andy seems free and is running and jumping around. Most parents tell their kids to “stop jumping on the bed”, we join him. A smile, a kiss, and a warm hug mean so much more. When our boys want to play, this is what we try to do. The dishes, laundry and dirty floors can wait, our boys cannot. We appreciate many things that thankfully most parents do not. We enjoy days when Andy wakes up and isn’t stuck to his clothes or his bedding. A day without Andy crying in pain. Days without blood on his clothing and ours. We actually have become experts on getting blood and bacitracin stains out of clothing. When a bath is less than three hours long and his knees are the only thing we have to wrap are as close as we come to being “normal”. You just never know when life can turn. Today is a gift, that is why they call it “the present.” Many times I think he is stronger than his mom. Just when I think that I cannot handle one more cry, one more bandage, one more set of clothing filled with blood Andy offers me relief. After a painful episode he reaches for me, grabs my neck, looks at me like he is peering into my soul and without a word just hugs me as tight as can be as if silently saying, “It’s all right mom.”
I just wanted it and went for it. No one stepped me and it was my next major achievement in life. 
He blistered easily to the touch, and in 1957 no one knew what was wrong with him. Finally two months later the doctors told us they thought it was EB. They also said he probably wouldn’t live very long.
