What does the name mean?
The skin is made up of a number of different layers. The outer is called the epidermis; the inner layers are the dermis."Bullosa" is simply the name for a blister and "lysis" means breakdown. Hence, Epidermolysis Bullosa means the breakdown and blistering of the epidermis.
Forms of EB
The skin is comprised essentially of two layers - the thin outer layer called the"epidermis" and the thicker inner layer called the "dermis". There are three basic forms of EB. The "Simplex", "Junctional" and"Dystrophic".
On the Simplex the
blistering is at basal cell level or above, on the Junctional the blistering is at the lamina lucida level, and on the Dystrophic the blistering is below the lamina densa level. Which means that, upon injury, the simplex's wound is not as deep as the dystrophic's one, although it is easier to obtain. The Junctional in its "Herlitz" form is unfortunately the lethal kind. Most babies born with this form will not survive to see their first birthday, mainly because all their internal organs are also effected, meaning they blister. Also the wounds do not heal well if at all. The Non-Herlitz form acts much like a combination of the simplex/dystrophic, tending to be a lot more like the simplex, since it is non-scarring (for the mostp art-although there are some scars), and the blisters tend to be small.
The severeness of the simplex and dystrophic forms varies a lot individually. The mildest forms are causing only a little trouble, and maybe only in summertime, when the most severe cases are severely disabling and life threatening.
Nicky has a moderatly severe form (Recessive Dystrophic - Hallopeau-Siemens subtype), his hands are severely involved and had to have surgeries to release the contractures and the webbing that were present. His mouth is a mess, he throws up blood every now and then, he has macrostomia and lingual adhesions. He also has a g-tube to supply nutrition to him.
Here is a handy table, courtesy of the National EB Registry, of the forms of EB known at the present time.
Major EB Type | Major EB Subtype | Protein / gene systems involved
|
| EB simplex
(EBS)("epidermolytic EB") | EBS,Weber-Cockayne
(EBS-WC) | K5,
K14 |
EBS, Kvbner(EBS-K)
| K5,
K14 |
| EBS,
Dowling-Meara(EBS-DM) | K5, K14
|
| EBS with
musculardystrophy (EBS-MD) | plectin |
| Junctional EB(JEB) | JEB, Herlitz(JEB-H)
| laminin-5
|
| JEB, non-Herlitz(JEB-nH) | laminin-5; typeXVII collagen
|
| JEBwith pyloric atresia (JEB-PA)
| a6b4 integrin+ |
| Dystrophic EB(DEB) ("dermolytic
EB") | DDEB | type VIIcollagen |
| RDEB,Hallopeau-Siemens (RDEB-HS)
| type VIIcollagen |
| RDEB,non-Hallopeau-Siemens (RDEB-nHS)
| type VIIcollagen |
How is Epidermolysis Bullosa Inherited?
Dominant Inheritance: There are two forms of'Dominant' forms of EB. Simplex
and Dominant Dystrophic. A parent with anautosomal dominant form of EB has a 50:50 chance with each pregnancy of transmitting the abnormal gene. The chance is the same whether the child is a boy or a girl, and birth order does not make a difference. A child who does not inherit the gene for EB from an affected parent will not have the condition and cannot pass it on. In some instances, neither parent has EB, but the couple has a child with an autosomal dominant form of EB. In this situation, the condition has usually been caused by a change, or mutation in the genetic material of the egg or the sperm. When a new mutation occurs, the affected individual will have a 50:50 risk of passing the gene on in his/her pregnancies, but his/her parents will not. They have no increased risk of having a child with EB in subsequent pregnancies.
Recessive Inheritance: Any form of Junctional and Recessive Dystrophic EB fall
into this category. An autosomal recessive disorder is one in which a recessive (unexpressed) gene for the disorder is passed from each parent and the two genes are paired together, causing the disorder to be expressed in the child. If a person has one recessive EB gene paired with a normal gene, the person is a "carrier", but does not have the disorder. If parents are each carriers of an autosomal recessive gene, there is a 25 percent chance with each pregnancy that their children will have the disorder. Again, the sex of the child and the birth order do not matter. An individual with a recessive form of EB will be at risk of having an affected child only if he or she has a child with a carrier or another person with recessive EB.
How different are the different forms of EB?
First
there are the three main types: Simplex, Junctional, and Dystrophic. The severity varies widely, with only a handful of true subtypes. Then there are the unknown ones, the mutants. And the ones where the parents carry the genes for two different types or subtypes of EB and the child has it. There are dominant strains and recessive strains and even ones that are acquired late in life. Each manifests itself a bit differently from the next. Even the subtypes in each type vary widely. For example: Under dystrophic one finds Transient Bullosa of the Newborn. It goes away by one year of age. And then there is Hallopeau-Siemens. Severe scarring, mittening, synthetic syndactilly, GI track involvement, blisters as big as a fist, many will develop Squamous cell carcinoma, anemia, growth retardation. Some forms get better as the patient ages, mostly the Simplex forms, and some patients don't get any older... 
The need to wrap is as diverse as the types. The mild forms and many of those especially that are at the higher levels of the skin that do not scar and often have only very tiny little blisters do not need to wrap. The air is great and beneficial. Many forms blister only in restricted areas like feet and hands. Some of the more involved forms, however, the Hallopeau-Siemens, Herlitz, some bad areas of Simplex Dowling Meara, NEED to be wrapped.
There is another diversity that I would place in here and that is the difference in the way we all wrap and the perception of what wrapping is. One person may roll some Kerlix loosely around a limb a few times and call it wrapped. Another may take many hours to get every inch, each individual finger, from neck to toe, wrapped with different layers and kinds of bandage. So much in this area varies according to the individual case and yes, experimenting is necessary to see what works for you.
The first
reported cases of blistering diseases that would fall into the EB
umbrella, were initially noted in the late 1800, starting from about 1870.
It wasn't until 1908 that at least one major dermatology textbook
published in English used the term Epidermolysis Bullosa to describe
patients with congenital blistering. For more onthe history of EB, please
refer to the Debra International website
.
EB is the
name of a group of disfiguring conditions, caused by defects in any one of
the genes that code for critical skin proteins. A number of different
types of proteins, including collagen and keratin, are woven together to
give skin its remarkably tough, yet flexible, properties. When any one of
these proteins is bad, the weave is no good and the skin can literally
fall apart with the slightest touch, causing painful blistering. The type
of collagen that is defective inN icky's form (Recessive Dystrophic, or
RDEB) is type VII. This is an important component of the anchoring fibrils
in skin, which are responsible for keeping the epidermis firmly attached
to the dermis. In EB patients these anchoring fibrils are weak because the
code for the gene that produces collagen (glue) is defective. Any part of
the body containing collagen VII can be affected including the skin,
nails, eyes, mouth, teeth, esophagus and gastrointestinal track.
Does EB impair intelligence?
Not at all.
Many EB children actually excel in school because they are not easily distracted and it is one thing that they can actually do.
How hard is it to take care of a newborn with EB?
Babies with
EB are very hard to care for not only because of how fragile babies' skin is in general, but also because they scratch and hit themselves, they fall, they can get blisters from just being picked up, from the diaper, etceteras. Even crawling and walking can bevery painful for them. Having a new baby with EB is challenging, painful and a full time job.
What are some of other side effects?
Patients
with EB may lose their nails. This occurs because nails are made from the same cellular components that are disrupted in EB. Malnutrition is often seen because of the protein loss through blisters and the extra used for skin repair. Calories go to wound healing first, then growth. A common concern of most patients is blistering in the mouth and esophagus. They can only eat mushy/liquid foods, or, at the very least, chew their food extremely well. If blisters appear in the esophagus it can obstruct the passage of food, hence cause severe malnutrition. Malnutrition is another huge concern for EB patients because it can disrupt the growth of important organs, and some EB patients have died from a weak heart, which was caused by the malnutrition. The choking of blood is, in some patients, a frequent occurrence. The blood comes from either a "popped" blister in the throat or esophagus, or from broken vessels/skin upon vomiting.
Some
patients have severe deficiencies in Iron, which, if not
treated or if cannot be treated can cause death. One other area
of concern is the possibility of deformity on hands and feet after
they have been injured, like the fingers contracting and webbing together
for example. This is due to the fact that if the
fingers get too much scar tissue (syndactilly)this skin does not "grow" like
normal skin, hence the fingers and/or toes get "trapped" into that
skin impairing the normal growth of the hand, and that is
why the fingers get pulled into the palm of the hand. There is also
a high incidence of Skin Cancer in severely effected areas (SquamousCell
Carcinoma). Infections are common due to the quantity of
open wounds at any given time.
Some of the general daily
treatments include meticulous
wound care and a high protein- high calorie diet. Other
treatments may include: hand and/or feet operations for releasing of
fusion of digits, biopsies and removal of skinc ancers, esophageal
transplant due to scarring and narrowing of the throat, oral
surgeries for special dental needs, iron supplements, shots or
blood transfusions to treat anemia, and periodic antibiotics to fight
infection.
Is
EB lethal?
Of the
currently known types of EB, only two are considered lethal. Junctional Herlitz is deadly
to the newborn and young. It involves the insides; small
intestines, gallbladder, urethra and kidneys along with the
nasal, oral, pharynx, esophagus, etc... They commonly pass away
within a few weeks of birth, some for a few months, rarely to
adolescence. Recessive Dystrophic EB-Hallopeau-Siemens (Gravis) is
the other. There are some variants in this form,
but basically all scar and mitten in. This synthetic syndactilly
will start quite young. The mucosa at the two ends of the GI
tract are involved, i.e.: mouth, 
esophagus, anal and
vaginal. Eyes and teeth are affected. Anemia
is common. Many with this form do not absorb iron orally,
and need transfusions of enhanced blood. Puberty is delayed, if
ever reached, because the body is so busy using up all of it's
limited resources to heal. Growth is delayed for the same reasons. Few
people with this form get over 80 lbs ever. One simplex form can
be deadly to newborn up to 20 months- Letalis variant Dowling Meara variant, however
with modern medical care only 1% of newborn with this condition
succumb to it. This is a form that improves with age
and puberty. It is often confused with RDEB at birth because it
does have a lot of similar symptoms. Milia, common to RD is also found
in this form of Simplex. A lot of blistering at birth is
common. Nail dystrophy, oral blistering, esophageal involvement. DM even has a
bit of flexure contracting sometimes, while not mittening, could
confuse in early days. If there is a lot
of blistering at birth, death would not be unheard of from causes like infection.
In earlier days (the early 90s is considered the dark ages
when it comes to EB) very little was know about the subtypes. If
it was serious, it was seen as RDEB. There was little or none
known about the genetic/DNA end of this disease, so those tests were
obviously not available.
How
do you get EB?
Different
forms of EB are inherited differently. Simplex and
Dominant Dystrophic are categorized as being Dominant conditions,
hence if the parent has it, he/she has a 50% chance of
passingit on to their children. If the parents are healthy, then it was
a fluke at conception.
Recessive
Dystrophic and any form of Juntional on the other hand, is inherited from
both mom and dad. They both are healthy carriers of the same genetic
defect. In other words, they both have a recessive gene for EB in their
DNA. It is impossible to detect this prior to a child being born with EB
because in most cases there is no evidence of the disorder in either
family, therefore no way of knowing in advance. And even if there was a
doubt, no test is currently available to know if someone is a carrier.
It is impossible, at this time, to find out if any of
us is a "healthy carrier" of "something". Two healthy carriers of a
disorder like EB have a 25% chance of having a child effected with that
disorder, a 50% chance of having a child that is a healthy carrier, and a
25% chance of having a child that is a healthy non-carrier. We each carry
about seven defective genes that could potentially cause a disease. But
each cell in the body contains two copies of every gene, and the backup
copy usually rescues us from the disease. In such a case, the defective
gene is said to be recessive; one must inherit two defective copies of
that gene for it to cause trouble. If you have only one copy of a
recessive gene, it lies dormant, waiting to be passed along to the next
generation. In some genetic diseases, however, the presence of only one
defective gene will cause the disorder. This type of trait is said to be
dominant. Some forms of EB, however, are new "spontaneous" mutations,
meaning they are not inherited. The parents can have other children
without risking giving their newborn EB again. What is a
"spontaneous"mutations, you may ask? A spontaneous mutation in any EB
candidate gene (i.e. keratins 1 or 14, plectin, laminin5 chains, integrins
A6/B4 or typeVII or XVII collagen) means that the DNA mistake occurred
sometime "after" the egg and sperm got together and not before. The
mutation was not inherited from the parents. Thus, when the embryo is
developing, one ofthe cells of this new life has acquired a genetic
mistake in one of the EB candidate genes that was not present in parental cells. This
mutant embryonic cell then creates millions of daughter cells that have incorporated
the DNA mistake into tissues--like the skin--in the fetus. When the baby
is born, skin fragility is manifested based on this genetic mistake which can
be passed-down through subsequent generations in a dominant or recessive pattern, depending on the
mistake and whether this mistake was incorporated into gametes (eggs or sperm
of the fetus). Bythis logic, presumably all DNA mutations that are inherited arose spontaneously
at some earlier time.
Can EB be cured/treated?
It was only
1993 that the gene that causes Dystrophic EB was located. Gene Therapy is
the only way that EB can be cured/treatedas far as we know at the present
time. In England they worked on a cream that might help. An
Australian company, Ortec International, was specifically formed to
produce replacement skin for people with EB. Ortec will develop,
manufacture, and market Composite Cultured Skin (CCS), replacement skin
that replicates the dermis and epidermis. Dr. Mark Eisenberg of
Sydney,Australia, Ortec's founder, developed CCS after his son was born
with EB. CCS is made from specialized cells taken from infant foreskins
during routine circumcisions; the cells are cultured and then grown on
across-linked bovine collagen matrix. Ortec is conducting clinical trials
of CCS and has been approved by the FDA.
The Apligraf
is another skin graft bioengineered skin made by a company called Organogenesis, made
out of foreskins from circumcisions and enhanced with collagen from cows.
When they developed it, they intentionally left out the Langerhans cells.
These are the cells that decide whether or not the body is going to accept
a new organ or not. Without these cells, there is no way to reject the
skin. As the Dr. said," it is immunologically inert". There are a lot of
other side affects that may be incurred that are still unknown, such as
motion restriction in the areas that it is applied. Apligraf is applied
very easily, they just put it on like a regular dressing. They take a
fresh blister and de-roof it to create the site. The Apligraft is laid on
there and wrapped up for 7 days. The dermis in the Apligraft bonds to the
dermis of the patient. There is no bathing or changing the dressing during
this time. After the two dermis bond, you have good skin that has the
right proteins to bond normally. Apligraf came to be in 1992 and was used
to treat ulcers that would not heal in elderly patients. The Drs. that
aredoing the study are the same people who have done all the research on
this product from the beginning.
The Apligraf
does not contain the corrected genetic material from the EB patient
itself, so it will most likely not 'cure' the problem, however, it will
help. It covers the area for a while to let the host's skin regenerate -
but it will still be EB skin. Please remember that it's not the patient's
skin "per se" that is bad, it's the body that is not producing enough
collagen or keratin (depending on the form) that is making the skin
fragile. Stanford is right now working with the FDA for approval to begin
their gene therapy treatment on humans with the Junctional &
Dystrophic forms. They will take the cells from the person with EB,
correct the faulty gene, grow the new "gene corrected" healthy skin
in the lab, and graft it onto the original EB donor. It will not be
rejected because it is the donor's own skin.No more blisters in that
area!!!! Please remember that the Docs at Stanford are working solely
on the funds fromthe EBMRF.
What is Pre-Implantation Genetic Diagnosis?
In o
rder to help parents that are
carriers of EB and are at risk of having another effected child, Columbia
University in New York started a procedure called "Preimplantation
Genetic Diagnosis" or PGD. PGD brings together two cutting edge medical
technologies, genetic analysis and in-vitro fertilization (IVF).
Because the eight cells are virtually identical, one cell can be plucked
off without harming the baby that subsequently grows from the embryo. This
cell is then subjected to genetic analysis. The first step is to drop the
cell into a test tube containing an enzyme called polymerize, whose job it
is to copy DNA. Up to a million copies of the DNA in the cell are made.
With plenty of material in hand, doctors then use other enzymes to chop
the DNA into manageable bits, which are then sorted for genetic defects.
Tests exist for about 450 genetic diseases, including the test developed
by Dr. Christiano for the Epidermolysis Bullosa gene. The objec tis to
detect which eggs are effected by EB or are carriers of the disorder, and
then implant only the remaining healthy embryos back in the womb.
Is
EB contagious?
People
affected by EB are from all races and cultures and in either sex. It's not
contagious. It's perfectly safe to shake hands, hug and kiss a person with
EB, you can't get it yourself because EB is an inherited
disorder.
More info about the blisters in EB patients.
When people
hear the word blistering, they think they know what it's like to have EB
because everyone gets a blister sometimes. But blisters in EB are very
different and also there are a lot more them and all of the time. Even in
mild cases of EB the blisters are much bigger than normally experienced
and the amount of pain is increased. In the severe cases the wounds become
very large and look like serious burns. Also the scars that come after are
similar. Normally blisters arise only from very heavy and long-lasting
friction, but in EB they arise from the simplest everyday actions, from
clothing friction, from wearing eyeglasses, from handling simple everyday
objects, even from normal eating. Blisters in EB also develop in amazing
speed and if they are not punctured, they will continue to spread leaving
large sore areas which will take weeks or even months to heal. EB can also
affect your lifestyle, but it doesn't necessarily do. Many people with EB
live perfectly normal and fulfilling lives and at the same time look after
their skin and health efficiently. Of course severe form of EB causes
disability and restricts a person's life, but a human being is very
adaptable and since EB is always from birth, it's not as difficult as you
could imagine. However, you shouldn't diminish one's suffering, and this
is always very personal experience and depends a lot of the severity of
EB.
Common Misconceptions about EB
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 useof 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
evenc arriers, 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 smallp ressure 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' (as I was
accused), 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 conjuncti
on
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 go to
this page: http://www.ebinfoworld.com/amazon.htm
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. A
potential cure for the Junctional Herlitz form is awaiting FDA approval
and clinical trials. Click Here
for the latest from Stanford.
Q. Does askin 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 EB parents continuously want to do hand
surgeries to their RDEB children when adult RDEB patients say that all
they want is their thumb? Why don't EB parents listen to the adult RDEB
patients?
A. A big
misconception is that EB parents don't or won't listen to adults with the
condition. Nothing is further from the truth. I am yet to meet a
parentthat does not take the advice from an adult patient. When it comes
to hand surgeries, the fact of the matter is, that most adult RDEB
patients were not aware of the benefits of the wrapping until recently,
and now do not have the time nor the energy to wrap the ABC way to keep
the fingers intact, and since they never did this to begin with, they feel
content to simply having a thumb. More often than not, most patients have
told me they wished their parents had taken more care of their hands, that
if their parents had taken care of their hands like I take care of Nicky's
hands, they would have hands now... that they miss having hands... that
they look at their baby pictures in nostalgia just seeing that they had
hands once.
Both times that my son had
surgeries in his hands it was done because it was needed. On the righthand
it was done when he was 2, and thanks to the ABC wrapping my
son, many years later, still has fingers. Nobody can ever convince me
that the combo surgery/abc wrapping is something wrong to do to my
child.When he was two he would not even use that hand, and he is right
handed. Now he uses it every day. The left hand was so gone by the time
Nicky was 5 that he had no fingers left, they were incased in his palm. It
was my son's decision to have the surgery, and now that he has a hand he's
happy he's done the surgery when he did. If a 7 year old is happy about
HIS decision, who is anyone to judge and criticize me? Unfortunately I get
criticized for this all the time. Sigh. My take on this is... I make my
son make the decisions, if he's happy with it, I am happy too.
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 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. Why are parents so hung up on a cure?
A. It's incomprehensible to
put down a parent for wanting a cure for their child's condition,
especially in those cases where it's terminal. I will be the
first to say, however, that the vast majority of EB parents are NOT "hung
up" on a cure. Yes, parents like to keep informed and see where the
research is going, that is simply good parenting. I have never heard
of a parent giving false hopes to our children. All a parent need is
a little hope. I don't think that's too much to ask. THANK YOU.
Q. I
was told 15, 20, 25,30, 35 (or more) years ago that a cure was just a few
years away. I think the best thing for parents to do is not to put their
hopes up on a cure because a cure will most likely not going to happen
anytime soon and in their lifetime, since it hasn't happened in all these
years.
A.
It was SO INCREDIBLY WRONG for doctors to tell
parents/patients all these years ago, that a cure was coming. Actually, I
get pretty angry when I hear of any parent that was told a cure was coming
in 'just a few years' back in the 60s, 70s and 80s. Let me tell you
why:
1. The gene that
causes EB was not discovered until 1993. Yes, 1993!!!! How can anyone be looking for a cure, if
they didn't even know what gene caused the disorder? It makes no sense
whatsoever.
2. The EBMRF, which is the
sole monetary contributor to EB Research at Stanford, was only founded in
1991, there was no 'real' EB research done before then. When we took Nicky
to Stanford and we talked to Dr. Marinkovich in early 1998, he stated to
me quite clearly that at the moment they were not doing ANY research on
RDEB at all, they were concentrating on Junctional. Real research for RDEB
did not truly start until 1999/2000, so in all true senses, the real
research for a cure for RDEB has only truly been worked on for a
few years. Anyone that tells you they worked on it before then they
were... yes, lying.
I also
get frustrated when people tell me "not to put my hopes up", because the
only thing that keeps me smiling at my child on bad days, is the 'hope'
that maybe, someday, something, anything, might help his condition. I am
not even hoping for a full blown a cure at this point, just a way to ease
it up a bit. Hope is what is all about, what makes me go from today to
tomorrow at times.
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 skinw ould 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 andi t was tried on an EB patient, even if the treatment would
work, the patient would still have EB after allis 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 ande
ven 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 aday to
allow moisture to penetrate the wound and heal it properly.
Q. You publicly announced that you think unwrapping a
child with RDEB borders on child abuse. Youare entitled to your opinion -
but what if you are wrong? What if there are other children out there who
could benefit from unwrapping?
A. The person that wrote
this to yours truly (your humble webmaster) took things out of context for
one, and for two, I never 'publicly' announced anything, this was part of
a discussion. For starters, my actual statement was that unwrapping a severe RDEB child borders on child
abuse.There is a big difference between mild
tomoderate RDEB patients and severe
patients. This is not an 'opinion' as she implies, it is somethings
ubstantiated by not only the Debra Nurse, but Wound Care Specialists, Burn
Unit Doctors and Nurses.
RDEB wounds
are 2nd degree burn-like wounds, they are not superficial. If healed
without moisture they can and will scar, and will be prone to infections.
Since infection is the #1 killer of EB patients, you can see why making
sure wounds are protected and healed skin is covered to prevent new wounds
is important, and why leaving a child with these types of wounds
unbandaged is simply unthinkable and, yes, bordering on child abuse. There
was a case of two little boys with severe RDEB left unbandaged who were on the
brink of death from infections and were taken away from the parents and
given to a loving foster family who wrapped them and... they thrived!T
hink I am making this up? Their
story is here. RDEB patients
who are not as severe don ot blister as easily. There is a mother who
claims her child is 'severe' because she was given an RDEB-HS diagnose,
that may be so, but there are differences of severity within each type,
and since she posted pictures of her daughter with only a swimsuit on and
no wounds in sight, there is no way she can ever convince me her child is
severe. My son Nicky has never, ever had his body wound free in his whole
life, he has wounds that haven'th ealed in years, and on his best days his
wounds account to at least 40% of his body. It's important to remember
that the more severe the patientis, the easier it is to get a wound,
that's why protection from normal bumps and scratches from every day life
is important for these severe patients. These patients do not benefit
at all from unwrapping, as the area unbandaged is extremely easy to
hurt.
But, once again, this is not my "opinion".
Why take my word for it?
Click on the
following link to read more on whybandaging severe RDEB patients is vital:
-DebRA's Skin
Care and BandagingPage
Q. Aren't EB parents way overprotecting of their
children?
A. Being"overprotective" is a gripe all children have,
healthy or not. This is something, however, that children do end up
understanding about their parents once the children become parents
themselves. It is impossible to understand otherwise. I (the webmaster)
for example, was never, ever allowed to have a sleep over growing up. Of
course, at the time I thought my parents were 'way' overprotective, but
since I've had children of my own, I've come to totally understand my
parent's reasonings about this and other matters.
EB patients that are notparents often complain to EB
parents about this... One time I wasc alled 'evil' by an EB patient
because I was taking precautions so my very severe and fragile EB child
would not get hurt in kindergarten. None of my explanations to her how 4
and 5 years olds like to push, pull, kick, pinch, throw, step on and run
into people, made her understand my point, a point that was backed up by
my son's teacher, his aide, the school'sn urse, the principal and it was
even written in my son's IEP. Basically I told the kids on the first day
at school that Nicky's skin was extremely fragile and they could not touch
him unless it was to hug him. Now that Nicky's is older things are
vastly different. I don't have to tell anyone not to touch him,
because they can see and understand on their own that fragile means
fragile. Period.
We know our children like no one
else can, and now that Nicky is old enough I ask for his opinion on things
to be done to or for him 100% of the time. If he gives me the green light
for something, I am certainly not going to subscribe to be called evil by
anyone if they do not agree. Especially by someone who is not a
parent.
Q. People treat us (EB people) like we are so bad off
& like we are paper and get hurt just by thinking about things to
do... I bet my life that if we had people treating him (referring to a
very severe RDEB patient) like everyone else.. like playing sports &
doing what most kids do he wouldn't be so worse off right now.. I bet my
life on that!!
A. Severe
RDEB children already have 50% or more open wounds on their bodies, and
can barely walk nor WANT or CAN play basketball or any type of sport, how
can anyone 'assume' they could be better off by doing these things it's
totally ridiculous. If anything, instead of having 50% of their bodies
covered in open wounds, it would be much worse, 75-90%. How would
that be 'better off?" If my son (who is 7 at the time I am writing this)
was inclined to want to try sports, I would not stop him, but he
has refused a bicycle with training wheels and it took me a week to
convince him that trying a tricycle would be fun!
To assume that parents don't treat or try to treat
their kids as normal as possible is just plain rude, and, I am sorry to
say, quite ignorant at the painful life these children lead and how
fragile they really are.
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, and my Nicky is no
different. 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 (and this is my son's problem) 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 children
with this problem 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.
Q. I
am reading a site called debra something or other. It says that eb is in
the genes. Since I guess, most people that have this, know it, because it
shows up right?It's not dormant, right? Why do you have children instead
of adopting?
A. EB may
be genetic, but that does not mean that all parents have the condition,
nor that they automatically know they are carriers, as there is no such
test.
For those who have the dominant forms
of EB, which are those forms (any form of Simplex and Dominant Dystrophic
to be specific) where the parent has the condition (but not
always-incertain cases the baby is a spontaneous mutation), the chances of
the parent to give their condition to their child is 50/50. Since both the
Simplex and Dominant Dystrophic forms of EB are, for the most part, milder
than the Recessive forms, the choice to have a child and the chance of the
child having the condition, is usually a very personal one. Many parents
have stated that their quality of life was not greatly effected by the EB.
Some with the Simplex forms know that their children will improve greatly
with age, so they find solace in that.
For
those who have children with the recessive forms of EB, they do not have
the condition, but they are carriers. There is no 'test' to find out if
weare carriers, and they are none the wiser, as I was. The only way a
child is born with a recessive form of EB (any form of Junctional and
Recessive Dystrophic to be specific) is if *both* parents are healthy
carriers. The birth of their child with EB is always a *surprise*. Two
healthy carriers have a 25% chance of having a child with EB. Since these
children are usually quite severe, and many die as babies, these parents
for the most part do not chance another pregnancy, but now and again, very
few do. Why?Most I've known are thinking that a 75% chance of having a
healthy baby are very good odds, but, again, this is more the exception
than the rule. Most parents that have another baby is by pure mistake, not
by choice.
Why not adopt? As many people that know
me personally would tell you, my long time dream is do adopt a little girl
from those nasty orphanages in China. But, like an old Italian saying
goes... "Between the 'saying' and the 'doing' there
is anocean in between", and this time is for real. I simply do not
have the money, and many people have my same problem. Adoption is a very
expensive option, one that many simply cannot afford.
More Questions and Answers that were sent
tous.
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 (Nicky's form)
Click Here for the Spanish Text of this page
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.
