Biographies and member history
Janine Dominant Dystrophic Autobiography - 22/10/2001
My name is Janine, I'm 28 years old, and have Dominant Dystrophic EB (DDEB). I was lucky in the fact that I
was able to play competitive sport as I was growing up. I still play competition tennis to this day, however
I had to quit basketball due to the continual blistering on my toes from people jumping on my feet. I dont
have any toenails, but I have 6 'good' fingernails, and four 'interesting' ones.
I carry around bandages and bandaids wherever I go. It's a bit of a pain, but really I can do pretty much what
I like - I just have to be careful not to knock myself. But if I do, I've got the bandages handy to fix myself
up. There are times I have screamed and cried with frustration, but those times are few and far between, and I
tell myself to 'get over it' when it does happen.
As I was growing up I was a little self conscious of my red knees, elbows, palms, and feet, and the fact at
any particular time I had a bandage somewhere on my body. Some of the snide remarks people made hurt
incredibly, and I remember at high school on a number of occasions I just wanted the ground to open up and
swallow me. I was lucky though, in that it was only a few people, everybody else was great.
Sometimes it does get me down, and I worry too much about what other people think. I guess sometimes I am a
little paranoid, especially lately as my feet and shins are an absolute mess due to my incessant
scratching/itchiness.
Most of the time I forget that I have EB, and go through the motions of 'blister time', bandaging, and
band-aiding as part of my daily routine. Its only when somebody asks 'what did you do to your elbow' for
the 10th time that day, and I am tired and grumpy, my tolerance tends to wane a little.
Aside from that, I lead a very normal life. I have gone backpacking around Europe, have played competitive
sport since I was 10, go out with friends to pubs (and occasionally clubs) and have a bit of a boogy, and
have a normal worklife (an office job as an IT contractor). I know compared to many EB sufferers I am very
lucky. I also have a very closenit group of friends who are fantastic, and know my boundaries, and are very
supportive.
I know when I was growing up my parents would have loved this site. Back then there was practially no
information available about EB. I was their firstborn, and a new mutation. My younger brother does not have
EB. After reading through some of the stories, I can appreciate so much more what they must have gone through.
Thanks Mum and Dad!
Janine
EB Herlitz by Helene Grayson - 25/07/2001
Zachary was born on the 7th May 2001. After a normal pregnancy, there were a few
complications with the labour. I found myself in theatre having an emergency
caesarian. I remained awake for the procedure. The first thing I noticed when
he was born, besides my own heartbeat, was his funny cry. It sounded very hoarse,
but I figured, that's fine everybody is different and that is my babies cry. It
was beautiful. They warned me that he had something different. All I remember is
the word banded. When they handed him to me and showed me his difference, it
looked like he had some skin missing. I remember thinking, that must be what
they were talking about.
After that, things got very complicated. He was born 8.1 pounds, 3.76 Kilos? We
finally came home on day 7. He was home for 48 hours before he was back in hospital
with an infection. We found out that it was definitely Epidermolysis Bullosa. Sub
type as yet unknown. Talk about a roller coaster ride. We still not have much of an
Idea what this condition was or meant. We contacted DEBRA QLD who helped us understand
this condition enormously. The hospital treated the infection and showed us how to
dress his wounds, which by now were well and truly spreading over his body. We found
out that he could not wear cloths, as these would create new blisters. We had to
change the type of nappy we used, and always had to be handled on a sheepskin.
Cuddles and hugs were very limited, as these would cause more blisters. To top
it all off, at the age of 6 weeks he decided to get two teeth. Unfortunately
due to his EB, the enamel on his teeth were deformed, creating huge points, so
that, every time he tried to suck his bottle, he would slice the bottom of his
tongue. At the age of 8 weeks, he had his two bottom teeth capped.
From there he went nowhere but downhill. He spent some time at home, and approximately
the same amount of time in hospital. He lost weight, had constant infections, the
worst part was the damage that was happening inside. His hoarse cry got to the
point, where he had no voice. He developed a stridor due to the granulation tissue
in his throat, reflux to the point where he was not keeping any thing down, as well
as other complications internally. He needed a gastrostomy and a treacheostomy to
save his life. Unfortunately these very operations would only make him suffer more.
We decided not to go ahead with the operations. He had suffered enough.
At the age of 5 and a half months, weighing 3.39 kilos, he lost his fight for life.
It is impossible to describe how it feels. You grieve and yet you are happy that your
darling baby boy is no longer suffering and is at peace.
Even after all of this, the things I remember most is his giggle, the way he tried to
talk, the BIG chats at bathtime. The tricks he played, and the togetherness he brought
to us. Most of all, the love we all shared.
Sue Chapman - Autobiography
I'm from Maine (U.S.A) land of lobsters, pine cones and
mosquitos. I was born 53 years ago with what is now being diagnosed
as EBS Dowling Meara with some characteristics of the RDEB. I saw Dr.
Uiotto in Philadelphia last spring and on visual exam, he seemed to
think that I have a hybred. My EB today remains very widespread from
the bottoms of my feet to my scalp as well as mucous membranes. I
get clusters around the knees and thighs and hips (from laying in bed)
I have 3 fingernails, no toenails, ratty looking teeth and I wear a
wig because of hair loss. I itch, burn and have painful walking. I
recently stopped working due to the effects that my EB was having on
the quality of my work.
My EB was very severe during infancy and childhood and I was not
expected to survive the numerous septic infections that I kept
developing. I know that my parents' stuggle with me was huge. I think
that they must have been stuck somewhere between grieving their
eventual loss vs a glimmer of hope as I survived another infection. I
never really understood the depth of my parents' pain and heart ache
until I came into these rooms and started reading EB parents' postings.
About a year ago I corresponded with a mom of a 30 something year old
son. She helped me immensely to understand what it must have been like
for my own parents to deal with the devistation and hopelessness of my
EB especially at a time when Epiderdolysis Bullosa was maybe a 2 line
blurb in a Dermatology text book.
Now, I'm not a mom of an EB child but I was an EB child. Thru the years,
I've flown by the seat of my pants, treating my own EB as best as what
was possible. I've made many observations about my EB and what makes it
worse, what helps; Which foods and laundry detergents I should stay
away from, what increases and helps itching. I've had an Apligraf,
broken bones and have long range problems from taking Celestone
(steroids) for my EB, as a teenager. I've done enough reading on EB to
find much validity to my own observations and experiences. I've learned
how to deal with Doctors and have been extremely lucky to end up with
physicians that are willing to allow me to teach them about EB and to
participate in my own care. I hope to share here what I've learned in
order to help others, be it EB parents, families or individuals. If my
parents were still alive, I'd thank them for doing the best they could
under the circumstances and acknowledge what they went thru during my
early years. Since I can't do that, I think that my participation here
is the next best thing.
Sue C from Maine
Harry Sinanian - Parent
I stood and watched my newborn son shred and dwindle into septicaemic state, another
30 minutes delay and he would have died. He was swollen three times in size, stopped
breathing twice and a blood transfusion saved him. We lost the newborn baby son and
acquired a 2 month old child weak and ill. I decided to act against the questionable
advice I was given by some Doctors and have never looked back. I met parents from New
Zealand that inspired me, met Kim on the Internet who gave us hope, with our own
proactivity we drove onwards to better the life of our son.
Then only to be told that he was misdiagnosed and was NOT RDEB and was EBDMS, yet the
same treatment advice was given to both categories and this was in my opinion very wrong.
So I used my scientific methods to observe and act. Lu and her tireless stance saw him
through many trials and I acted as the technician. We were only two people working
together with the support of a few good medical professionals and we seemed to have
made it through. My quest is to provide good information and let the parents decide
what is the best route to take at any one point in time.
Today Luke has a relatively normal life, he walks, runs and swims, goes to school, all
because of a few people who shed some good advice and taught me to think for myself.
We were what seemed to be the first of the Internet EB revolution, I've conversed with
parents losing children to the Letalis form, felt the helplessness in RDEB, witnessed
ignorance by choice and felt the fear in many, I'm not a god to pity anyone, all I can
do is give back what I feel saved our son from the errs of ignorance and leave it
up to those who make their own choices.
Harry
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