EB Research and Clinical Trials

 
Below is a list of web sites that detail past and current research and clinical trials for the treatment of Epidermolysis Bullosa : )  It is not a complete list, and I will update as I get new/more information.  I hope these sites are helpful and brings HOPE to all!




http://www.rareconnect.org/en/community/epidermolysis-bullosa/news

http://eb-resource.com/tag/epidermolysis-bullosa-clinical-trials/

http://www.debra.org/research-trials

http://nyp.org/advances/epidermolysis-bullosa-patients.html

http://www.ebkids.org/research/index.php

https://ebcare.patientcrossroads.org/index.php?option=com_content&view=article&id=403&Itemid=479&ml=5&mlt=system&tmpl=component&lang=en

http://freedownload.is/ppt/eb-clinical-trials

http://clinicaltrials.gov/ct2/show/NCT00587223Stanford

http://dermatology.stanford.edu/research/research.html

http://dermatology.stanford.edu/gsdc/eb_clinic/trials/eb-ebcrc.html

http://dermatology.stanford.edu/gsdc/eb_clinic/

http://dermatology.stanford.edu/gsdc/eb_clinic/trials/eb-mosaicism.html

Minnesota
 
http://bmt.umn.edu/world-class-bmt-program/epidermolysis-bullosa-clinical-trial.php

http://www.health.umn.edu/eb/

http://bmt.umn.edu/world-class-bmt-program/epidermolysis-bullosa.php



Blogs
http://ingarrettsmemory.blogspot.com/2012/05/eb-clinical-trials.html

http://patriceandmattwilliams.blogspot.com/2009/09/expanded-clinical-trials-for-eb.html

 Establishing your child or self with an EB Clinic

                                                  

I have seen a lot of requests for information about EB clinic visits.  What is an EB clinic?  How would going to one help me or my child's care?  What do they have to offer that my regular doctor doesn't?  I am going to detail the benefits of being involved with an EB clinic and will also re post the list of EB clinics that I have gathered, and featured in my first post of this blog : )

                                 Your EB Center Clinic Visit

When you go to an EB clinic it can seem overwhelming because you don't just see one or two specialists...you see them ALL.  By that I mean every main physician in every aspect of EB care.  Gastroenterology, dermatology, surgery, OT, PT, Psychological, Social Work, Orthopedics, Gynecology, ENT, Ophthalmology, Cardiology, Pain Management, Dental.  They cover all the bases.  Some of you may not need to see all of the physicians, for example I don't need to see OT or PT as I don't have issues in those areas, but any area that you have concerns about will be addressed at your appointment by the appropriate department.

A general clinic day goes a little bit like this: (I am using my schedule for my next appointment to give you an idea of what a typical clinic day is)

10:15 am Endocrine Dept. for Dexa scan (bone density) time involved: 15 min

11:00 am  Cardiology Dept. for an ECHO time involved: 90 min

1:00 pm  EB Center Multi Practice Clinic team consult time involved: 2-4 hrs

It is during the team consult that you see the majority of the doctors.  If you have an ENT (Ear, Nose and Throat) appointment or a dental appointment they will be scheduled separately and you would go to those departments for the appointment.

                                    

                           Dental Visit

In regards to Dental visits I just have to say the dental team is AWESOME!  The technology that has been created in the last 5-10 years for dental care for EB patients is amazing!  For those who have had to deal with dentists who are NOT familiar with EB, see if this short conversation sounds familiar.  

Imagine you're at a regular dental office for a cleaning or x rays and you have EB...

Technician: "OK, i need you to open your mouth wide"

Patient: "OK"

Technician: "No, open as wide as you can"

Patient: "I am"

Technician: "Can you just open your mouth a little bit wider?"

Patient: "No"

Technician: "Why?" 

Patient: "As I explained before you began your examination I have EB.  A rare, genetic connective tissue disorder that causes severe blistering and scarring in my mouth and other areas.  My tongue is completely fused to the base of my mouth and has no mobility.  I don't have a gum line as my gums and inner lip/cheek has fused together, which means you won't be able to use a regular x-ray card, you'll have to do a panarex.  Also, I can only open my mouth so wide because of scar tissue that is causing strictures at the corners of my mouth"

Technician: "Are you sure you can't open just a little wider??"

Patient: exasperated, yet polite "No"

Technician: "OK, hold on, I'll be right back"

5 minutes later a new technician walks in and says

"What seems to be the problem?  The other tech said you can't open your mouth? Is there a reason why you can't open our mouth?

OMG!

New Tech: "OK then, let's see if we can try and get an x-ray"

Patient: "OK, but you have to use the pediatric cards as the adult card won't fit"

New Tech: "Are you sure?" 

Patient: still polite ; ) "Yes"

Technician: "Maybe you could just try"

Patient: "No, if I try the adult size it will cause blisters in my  mouth and they're very painful"

New Tech: "I'm pretty good at getting these to fit, are you sure you don't want to try, just once?"

Patient: "No, they won't fit no matter how you bend them or try and place them they wont fit.  If you want an X-ray you have to use the small cards, and even those have to be bent.  Also, you wont see anything below the gum line as the area is fused so the only way you will get an accurate view of all of my teeth is with a panarex"

New Tech: "How about we try the small card and see if we can't make it work..."

And so it goes until they realize you're right but not before they have made you cry by trying to force these plastic x ray cards into your mouth b/c they think you're faking it b/c they've never heard of EB.  At which point they take you down the hall to do the panarex.

Your dental appointment at an EB Center goes something like this:

Technician: "Hi, how are you? M name is sue.  Go ahead and sit down and we're going to get some x rays."

Patient: "Um, OK, but they don't fit."

Technician: smiling : ) "I'll be right back" 

She comes right back and hands me a small plastic card (about 2x3 inches) and says "OK, just hold this on the OUTSIDE of your cheek and be still"

Patient: "Um, OK"

Technician: "Hold your breath while I take the picture...OK, you can breathe" and she takes the card away and we repeat the process on the other side...and your done : )

The x ray cards are very flat and are positioned on the outside of your cheek, along the jaw line for upper and lower teeth.

I was so amazed I was almost in tears at how well the appointment went.  I didn't have to EXPLAIN ANYTHING to them.  Nothing.  It was amazing.  They have special tooth brushes that are made to fit the grip of a hand that is fused or contracted.  After the x-rays you see the Dr and go over your information and a treatment plan is formed for all your dental work.  Now, if you're an adult they will do the x-rays and the consult BUT you do have to be referred out to an adult dentist or oral surgeon but they will help find one for you that is familiar with EB.  Normally they refer you to dentists or oral surgeons in the area of the EB center as those are the ones they know, BUT they will happily consult with your regular dentist or try and help find a dentist or oral surgeon where you live that will agree to consult with them, if your dentist won't.

On to the clinic visit : )  It is a long day, so be prepared with snacks, drinks and entertainment for yourself or your child.  I do believe the children get welcome bags that come with a few things for entertainment and I believe they still give hand made blankets to new patients.  Even the adults get a blanket at their first visit.  My blanket is Tye dye fleece and I love it : )

At this point it is a parade of doctors and nurses and examinations and questions and it can seem overwhelming BUT it is so worth it!  Once the doctors are done you are free to go.  At the end of the day the doctors have a conference where they discuss the patients and begin working on each patients individual treatment plan regarding the issues that you discussed with each department during your appointment.  If your current doctor is willing to work with the EB center doctors then the EB Team will consult with your regular doctor.  If your doctor will not consult with the EB team,and if you don't live close to your EB center, then the nurse educator will help you find a doctor in your area or at least fairly close by that is familiar with EB and would be willing to consult with the EB team.  In my experience they do everything they can to make our lives better regarding medical care.

They introduce you to medications, ointment's, creams, bandages and other products that you may not know about which could help you or your child heal better, faster and with less pain and infection.  Before I went to my first clinic appointment I had 8 major non healing wound areas.  I had been asking my dermatologist for YEARS was there anything new that I could use regarding ointments, bandages and he always said no, nothing...keep using bacitracin.  When I left that clinic appointment I had Medihoney, Alwyn Cream and Bactroban as well as countless bandages to try.  Six months later, using Medihoney, Alwyn Cream and Mepilex brand bandages I went from 8 major non healing wounds to 2 as a direct result of their care and the products they told me about.  My quality of life improved 100% after my clinic visit!

I still only have 2 major non healing wounds.  The other areas still blister and I do have issues with those areas but NOTHING like before my appointment.  They arm you with the latest wound care information and products that are on the market, and give you the information to wound care supply companies who, in turn, bill your insurance for you (and often fight your insurance for you!) and then mail your supplies to your house.  

I use National Rehab and Bill Cornman is the EB rep and he is awesome.  He will get your bandages to you within a few days of your order.  Also, it is their company that produces the newsletter "The EB Advocate".  Danielle Malchano is their insurance Guru and she is amazing : )  There are other wound care companies but I have only ever worked with National Rehab and I really like them.  Their customer service is amazing and everyone you speak to is nice and helpful.

OK, to address the questions I mentioned above

1) Would it be better to wait until my child is older to go to a clinic appointment?

-I believe that it is better to be established with an EB center as soon as possible.  They offer so much information and support and can only HELP you with your child's care.  The earlier you establish that connection the earlier you will be able to connect with the doctors in your area that may be a better fit for your child's care than the one you currently have, or if your current doctor is amazing but knows nothing about EB the EB center team will consult with that doctor so if he/she has any questions or concerns you will still be getting help from the clinic team between visits.  BUT, you will only get that extra help if you have been seen by the clinic doctors, because they can't treat a patient they've never seen.

2)  I can't afford the travel expenses to go to a clinic appointment!

-  There are organization's that can help you get to your appointment.  One of those is The Butterfly Fund.  Their web address is thebutterflyfund.org  Make sure you use this address as there is another butterfly fund but it is not the one that helps EB.  You can ask the clinic coordinator or the nurse educator of whatever EB Center you are going to for possible information on local organizations that can help with travel expenses.  Also, contact your health insurance.  They may be able to help with travel expenses.  I know there are some insurance companies that do this, but I don't know which ones.

Most large hospitals have Guest Services and they have information on local hotels, who often offer discounted rates for those being seen at the hospital, shuttles to and from airports and hotels, free passes to local entertainment (Zoo, etc...) information on local restaurant's, and other information.

There is, generally, a Ronald McDonald House by most Children's Hospital's.  The Ronald McDonald Houses (RMH) are amazing.  You never hear about them or how much they help people.  Their general nightly rate is $25 (it may be different in other states but it shouldn't be much more than that) and if you can't pay that much then you pay as much as you can, even if it's only $5 a night.  If you can't afford that, you fill out a financial aid form and if you qualify (and you probably will) you pay nothing.  

They have a large kitchen/dining area that has, within it, 4-6 full kitchen areas (counter, dishwasher, stove, oven, microwave, sink, dishes, utensils etc...) that you can you use for cooking your own meals.  You get your own pantry, refrigerator and freezer space for your groceries, however, there are volunteers that cook dinner every day of the week (included in your stay) and often volunteers that cook lunch as well.  They have a pantry with dry and canned foods that you can use and cook for yourself or if you want to make a special treat for the other guests.  You are just asked to clean up after yourself.  They also supply dairy products (Milk, eggs, yogurt, butter, cheese) and basic staples like bread, peanut butter, jelly, condiments and applesauce and juices.  There are always leftovers from a previous meal and you are encouraged to eat leftovers so they don't have to be thrown out, but you don't have to.  I bought groceries but honestly, I never used any of them during my stay.  I didn't need to.  

They also have laundry facilities, multiple entertainment areas with TV, VCR/DVD and a movie selection you can borrow movies from.  Their is a PC and Internet station, library and craft room.  They offer free tickets to local attractions (Zoo's, Aquariums etc...) and also have outdoor play areas.  The only thing is that rooms are on a first come first serve basis.  You call the RMH 24 hours before your appointment and they put you on the waiting list.  Normally, by the time you arrive or later that day they may have a room for you.  There is a possibility you might have to stay a night in a hotel while you are waiting for a room to open up, but they will get you in as soon as possible.  I only had to stay one night in a hotel, but I know many others who didn't have to.  It just depends on how full they are.  There is no time limit for your stay.  As long as you or your child is either in the hospital or being treated out patient by the hospital then you can stay as long as you need to.

3) What else does being established with an EB center offer for me or my child's medical care?

-EB Center's have the most up to date technology for Anesthesiology.  Since airway issues are so prevalent in those with EB intubation can be a tricky thing.  The anaesthesiologists at hospital's with EB center's are well versed in the care of an EB patient.  They are extremely careful with every thing they do and take special precautions to reduce the potential for complications.  In short, they are amazing!  I am 38 and have NEVER been intubated before.  I recently had oral surgery and I was terrified because I was going to have to be intubated.  They intubated through my nostril and used a fiber optic scope to guide the tube and there were no problems at all.  Besides some minor throat irritation I couldn't tell I had been intubated.  There was no blistering, no trauma, just very minor throat irritation.

-If you need to speak to one of the team doctors you can contact the clinic coordinator and that person will either find the answer you need or have one of the EB clinic Dr's call you.  It is very reassuring to know that if I am experiencing something new with EB I can take a picture of the area on my phone, then email that pic from my phone to the clinic coordinator or the nurse educator and they forward it to the Dr and within a day, two at the most, you have information about what may be going on, whether you need treatment or if what is happening is normal.  If you need treatment they can coordinate with your GP to resolve the issue, or they may suggest you come to them if it's a serious issue they feel they should treat.

That is my experience with an EB center Clinic.  In June of 2010 I moved from Florida to the Cincinnati area so I could be near the doctors at CCHMC (Cincinnati Children's Hospital and Medical Center).  Clearly this is not an option for many people, and it happened at a point in my life that it was time for me to move from the situation I was in and into the next part of my life.  I am thrilled with my move but I have been in the position where I was driving or flying to other states for proper medical care as the doctor's that were in my hometown simply did not have the experience to properly treat me. 

When I was a kid I spent 3 months every summer at Chapel Hill Hospital in Chapel Hill, NC.  Dr. Brigamon and Dr. Jo David Fine were my dermatologist's, and Dr. Timothy Wright was my dentist.  I don't know how many of you recognize those names but they are some of the key doctor's that spent a major portion of their career's doing research for EB, and are still active within the EB community.  At that time Chapel Hill was one of the only EB center's in the states.  I went every summer for 8 years.  I was poked and prodded.  They took blood and biopsies.  I had more dilatation's than I can count.  All of the doctors and nurses knew me by name.  It was like a second home to me.  This was in the '70's when they still knew so little about EB and I was a curious and confusing patient for them.  Biopsies confirmed RDEB but I wasn't presenting as a typical RDEB patient.  I had all of the internal difficulties and about half of the external ones.  There weren't any tests for sub typing then so they didn't know that I had a sub type that made RDEB less severe for me in some aspects.  

Doctor's WANTED to learn about EB and I was eager to help.  As I grew up that stopped being the case.  New doctor's were less and less interested in EB and how it affected me and eventually they didn't care at all.  They hadn't heard of EB, or if they had it was only a minor mention from med school and no real information.  They couldn't pronounce it, much less spell it and as far as they were concerned it wasn't a big deal.  My mom taught me to fight for myself by always advocating for me.  She made sure I had the BEST doctor's and the BEST medical care she could find.  She sacrificed everything to care for me and I am eternally grateful to her for her love and dedication.  It was from her that I learned how to find the best doctor's as an adult and to not allow any doctor to make me feel unimportant.  To not allow ANY doctor to dismiss me because of their own arrogance and ignorance and I didn't.  I learned so much from the doctor's at Chapel Hill and I used that knowledge to inform the doctor's I had as an adult...and they mocked me for it and that is when I began having so many issues with doctor's refusing to accept EB and refusing to speak to the EB specialists.  

I do understand the fear, frustration, anxiety and anger that one can experience when dealing with a doctor that refuses to listen or believe you when you try and talk to them about EB.  I have been to doctor's that were demeaning, arrogant, rude, disrespectful and down right nasty.  I've been to doctor's that accused me of lying about having EB, or simply did not believe me when I explained the difficulties I have swallowing as the result of an extremely narrow esophagus. That is why I am writing this.  It is up to you, as parent's, to advocate for your children so when THEY grow up they can advocate for themselves and establishing a good rapport with EB specialist's when they are young will only help them as they grow.  They will always have that connection to an EB center and will always have specialists that listen to them and KNOW how to care for them.  EB center's are an invaluable resource and I would encourage every patient/parent to think about establishing themselves with an EB center near them.  I believe it can only help create a better life for anyone with EB.

Here are some opinions from parent's/patients that have been to an EB clinic : )

"We go to cinci yearly it is great because you can ask questions anytime. We get to see all the docs at once in one day. They educate there staff so when we are there for procedures they know about EB all over the hospital.we use the nutritionist freq. we can call there pt or ot for any questions. We like all the docs and the nurses are great. The only bad part is its in Ohio were in NY."-J.N.

"I don't see any cons to it at all. I found it to be the most pleasant doctors visits that we have ever had. It was really nice to go to people that knew more about EB than me. The only thing I wish they would offer is some sort of get together on clinic days. Or at least a contact sheet that people can fill out and view if they want to meet with other EB families while there. When we brought Jackson there he was young and we had not met anyone else with EB. It would have been nice to connect with another family."-M.W.

"i like how he gets to see all the important docs, including social service and community suggestions. i like that it is centered around what is going on in our lives. they take the time to listen to us and listen to my ideas, concerns and issues. i also like that they have a music therapist come in and make Liam smile while all these weirdos in white coats stare at him and take pics! we go to a clinic in NYC @ Columbia pres"-M.C.

"I LOVE being able to live pretty close to an EB clinic!
-MY FAVORITE THINGS-
1. The doctors know SO much about EB (Way more than other hospitals). 2. You don't have to make a bunch of different appointments to see all the different doctors, you get to see them all in one appt. 3. You get to meet a lot of new friends with EB, kids and adults!
-LEAST FAVORITE THINGS-
1.Being able to see all the doctors in one appointment is good, but the bad thing about it is that your there FOREVER! Your there for about 5 hours! (Just a tip...bring SNACKS!)"-N.S.

Below is a list of some of the EB center's.

Cincinnati Children’s Hospital Medical Center, Cincinnati, OH

Contact Donna Engells

Clinic Coordinator (513) 636-2009

Stanford School of Medicine, Palo Alto, CA

Contact Loraine Spaulding

Clinic Coordinator (650) 804-4820

The Hospital for Sick Children

Toronto, Canada

(416) 813-1500- ask for the EB Clinic

University of Massachusetts
UMMHC, Hahnemann Campus
281 Lincoln Street
Worcester, MA 01605
Phone: 508-334-5979 - ask for EB Clinic

Herbert Irving Center for Dermatology and Skin Cancer

Herbert Irving Pavilion, 12th Floor
161 Fort Washington Avenue, New York, NY

Columbia University Dermatology Associates

16 East 60th Street, Suite 300
New York, NY 10022

To make an appointment at either location call 212-305-5293.

Phoenix Children’s Hospital

1919 E. Thomas Road, Phoenix, AZ 85016

(602) 933-2053

The Children’s Hospital Aurora

13123 East 16th Avenue

Aurora, CO 80045

720-777-8445

Sydney Children's Hospital

Sydney, Australia

Contact # 9382-1470 (not sure what the area or country code is)

There are other clinic locations.  To find one near you contact DebRA.org

                                          Epidermolysis Bullosa Registry

                                          EBCare Registry

                                  ebcare.patientcrossroads.org

                                                    
https://ebcare.patientcrossroads.org/

EBCare Registry

ebcare.patientcrossroads.org

The Epidermolysis Bullosa Registry was originally created in September of 1986 through Rockefeller University in NYC, NY.  The goal was to develop a list of EB patients with various forms of both inherited and acquired forms of EB.  Also, to create a data bank of 1) clinical 2) historical and 3) genetic information pertaining to these patients and to gather donated tissue biopsies, which include selected cells and DNA from selected EB patients to establish a permanent tissue/cell bank, from which researchers can study and to further research of all types and sub types of epidermolysis bullosa.  Below is the link to the clinical trials website that gives the basic information for the original EB registry study, which has since been completed and closed.

http://clinicaltrials.gov/ct2/show/study/NCT0000476

Below are a few excerpts from the EBCare Registry (ebcare.patientcrossroads.org) which is the 'new' EB registry:

 "a single, online database that collects and stores information provided by participants and includes personal and clinical information provided by patients with all forms of epidermolysis bullosa (EB). This information will be kept confidential by EBCare, LLC. The Registry is a research project that collects and stores information, and makes this information available to qualified researchers and others interested in studying the disorder with a view to diagnosing, characterizing, and treating the disease."

"The Registry facilitates research by all qualified investigators who wish to study patient populations that are well characterized by accepted criteria. Once established, a Registry is a research resource that can support many diverse types of investigations, including clinical trials, performed by qualified researchers to help diagnose and treat disease."

"By sharing your information with the EBCare Registry, you are helping create this valuable resource that does not currently exist." - information provided by EBCare Registry

"By enrolling in the Registry, you are in no way committing yourself to participate in any Registry-related research project.  Your personal and confidential information will be  protected in accordance with applicable United States and international privacy and security regulations such as the Health Insurance Portability and Accountability Act of 1996 (HIPAA) and the European Union Data Directive as well as applicable state or national laws."

"Vision

The vision for the Registry is to establish a global resource that will ultimately serve as a repository of information gathered from people affected by all forms of EB."

"Goal

The goal of the Registry is to facilitate communication between affected individuals, clinicians involved in their treatment, members of the health care community, and scientists who strive to advance research on the diagnosis and treatment of all forms of EB."

"Objectives

The objectives of the Registry are to:

1.     Characterize and describe the experiences of individuals affected by all forms of EB.

2.     Identify EB treating physicians.

3.     Assist the development of clinical care guidelines.

4.     Facilitate in the planning of clinical trials.

5.     Facilitate clinical trials by informing the EB community in a timely fashion about new EB clinical trials and research projects."

"By achieving these objectives it is hoped that the Registry will accelerate the development of effective therapies for all forms of EB."

"Who Maintains and Funds the Registry?

EBCare, LLC maintains and coordinates the Registry and is guided by a Board of Managers that provides oversight and includes DEBRA International, DEBRA of America and Lotus Tissue Repair, Inc.  Funding for the Registry is provided by Lotus Tissue Repair, Inc."

"How Can I Participate in the Registry?

The EBCare Registry was launched in February 2012, initially in English. In the future, we plan to develop versions of the Registry in other languages to facilitate more international participation. The Registry is accessed through the Internet and to participate you must register online and complete an easy-to-use questionnaire, which will be accessible to you after you register."

All information in parenthesis was provided from EBCare registry

PLEASE, PLEASE, PLEASE take the time to add your information to the registry.  It is vitally important to have as many patients sign up as possible in order to properly catalog as many cases of EB that they can.  The reason YOUR participation is so important is that this is where the researchers who study EB go to find the information they need to continue to search for a treatment/cure for EB.  It takes about 20-30 minutes to complete and your information is completely private and protected by HIPAA laws.  If you want to help the doctors and researchers who are searching, desperately, for a treatment/cure for EB then please sign up with the EBCare registry.  Without your participation there is no registry and, therefore, less statistical information for the doctors and researchers to pull from when studying this devastating disorder. 

“A corneal abrasion is a scratch on the eye's cornea. The cornea is the clear, protective covering over the iris, which is the colored part of the eye, and the pupil, the black circle in the middle of the eye. It's important both for vision and for protecting the eye. If you poke your eye or if something gets trapped under your eyelid -- such as dirt or sand -- your cornea may become scratched. When it does, it can cause significant pain and discomfort.” - info from WebMD.com

Corneal eye abrasions are an issue for many of those with EB.  A few examples of what can cause a corneal abrasion are; dirt, dust in eye, rubbing the eyelid, dryness, direct heat exposure (such as from opening an oven door or lifting the lid off a steaming pot), scratching, eye lash or hair in the eye.  These things can cause scratches on the cornea or, which is more common with EB, a fluid filled blister on the cornea.   

The questions I posted to others with EB regarding this issue are as follows:

1) How they occur
2) What you do to help them heal
3) What you do to make yourself comfortable while they heal
4) What supplies you use to help them heal
5) How long it can take for the abrasions to heal
6) What you do to entertain or distract yourself while they are healing

 
Below are some helpful tips from other’s with EB (or their parents) for dealing with corneal abrasions if/when they occur.  I have not used names unless given permission to do so.


1)  “I used an OB pad and Mepitac to make an eye patch for him. He is NOT happy, but he hasn't gotten it off yet!!”

2)  “wetting some small pieces of fluff, and tossing them in the freezer; when ready I take one out and press on her eye, when warm I wash it, and put it back in the freezer.”

3)  “warm wash cloths mainly, because it helped better than cold if I couldn't pry my eye open…it was stuck together from oozing all night.”

4)  “I sit in a dark room, put a cold wet tissue on it. It normally lasts a couple of days, can last up to a week.  Keeping it shut can help it heal but as I'm stubborn and don't like asking for help I try to open my eye and keep it open but I think it would heal faster if I kept it shut. I have RDEB.”

5)  Contributed by Samantha Rose Smith, teen with RDEB. (Causes = 1) Typically when the air is dryer, less humid. And just by rubbing your eye when u wake up or during the night.”

“(How to heal = 2) If they don't seem infected I apply lacralube, or aqua fore. And sleep the whole time or stay in a dark room with the eye closed.

“(Stay comfy while healing = 3) Stay on top of pain by not waiting until the pain gets worse and take it (meds) every 4 or 5hrs.”

“(What you use = 4)  Lacralube or aquarfor, if it's swelling and not healed but 5days an antibiotic eye ointment, or if you don't have ointment and it's absolutely necessary, drops but their harder and more painful to use.”

“(How long to heal = 5)  It used to take 3 days average but now that I'm older it only takes 1 1/2 days.  I still get some really bad ones that take 4ish days to heal, during/after that time I still apply loads of ointments to not scratch it, as even though u think it's healed it's not completely healed.”

“(What you do while healing = 6)  I listen to TV or music, if I can open it (my eye) I'll watch TV, or listen to mom reading me homework if I'm more behind.  I cant do anything else because I'm to sleepy and in too much pain. I have rdeb, (other or possibly inversa, I'm not sure but it's been getting kind of worse with age) and I would like to be referenced in case someone needs to know more!”


6)  “If you have to be in the light, sunglasses work wonders the big ones that cover the side of the eye. Also dilation drops help keep the eye open when going out.  That way you don’t have to strain and forcefully hold it open.  There are also numbing drops depending on the pain. Cold cloth helps the swelling and helps eye not to water.”

7)  “I scratch my eyes all the time in the summer. Actually looking into getting tear duct plugs to keep moisture in my eye.”

8)  “Humidifiers help so much in reducing the possibility of getting an eye scratch.”

9)  John N. writing for son Casey “Casey gets frequent eye abrasions.  He is 4years old with rdeb and any thing that touches his eye causes damage.  He has gotten them pillow fighting, rubbing, and walking into doors. He immediately cries and holds both his eyes closed. He is, at this point, incapacitated for 2-3 days.”

“At this point he cries every couple hours we need to keep his eye as moist as possible. We use sustain eye ointment. It doesn't have preservative.  Our ophthalmologist recommended it as the best but refresh or lacralube are equivalent.“

“He lays in his dark room and will listen to music or listens to his favorite movies, or we read to him.  We were given a dilating drop but they burn. It only helps with light sensitivity.”

“This is one of Casey’s most challenging times it is very stressful on us and most of all on him. There isn’t a lot to help with the pain he feels. Narcotics don't work, Tylenol, Motrin do nothing.  He won't put anything like a cool soak on his eye but that helps when I had a scratch.”


10)  “The healing time can vary from same day to 4-5 days, depending on the severity of it. The eyes are one of the quickest healing parts of our bodies fortunately. They occur as a result of dryness and usually happen in the middle of the night. The cornea gets dried out, and at whatever point you open your eye in the night, the top layer of the cornea gets pulled back by your eyelid, causing an erosion. Just like friction on our skin.”

“The best way to get it to heal up is lots of moisture and lots of rest. I use Moisture Eyes PM ointment and Refresh Liquigel.  If it starts getting infected at all, I see my ophthalmologist right away to get some Vigamox (antibiotic drops). I learned to get into see him QUICKLY the hard way. One time I had one turn into a corneal ulcer and was told that I stood a 40% chance of losing my cornea that time. There have also been a couple times where my doctor had to "scrape the fluff" off of it to get an even abrasion so that it would heal properly (with numbing drops of course).”

11)  ”For me, corneal abrasions are just about the worst part of EB. It is PAINFUL and scary. When I get a bad one, I am completely down and out. Couldn't go to work or school or do anything but keep it closed and keep the lights dim. Cold compresses always made mine feel better. I have had a ton of them, but was told that all of my scarring is miraculously around the part that affects my vision, and not covering it, so I have had very little visual loss from it all.”

12)  “I put lacrilube in every night or my eyes blister.  If they still blister then I use viscotears and put mepilex light to keep it closed.  The pain is awful and it feels like you have grit in your eyes for days.  I have rdeb, non hs…I have permanent scars on both eyes…the secret is to never let the eyes dry out and never sleep without ointment in them.  I use viscotears in the day and close my eyes for 1 whole minute an hour-consultant said to!”

13)  “Steps my husband uses for eye abrasions:”
“1) over the counter- multi solution rinse in both eyes.”
“2)over the counter- refresh tears 2 drops in both eyes.”
“3) over the counter- refresh liquid gel 2 drops in both eyes.“
“4) prescribed- Prednisolone Acetate Ophthalmic Suspension 1%, given once or twice daily. It really depends on the Dr. When my husband first saw his eye Dr. she told him to put two drops in both eyes, one time per day. She would check him regularly while taking this med. because she said it can cause pressure in the eyes. When she said his eyes weren’t having new growth and pretty much stable she started to wean him off slowly. He now takes one drop in both of eyes every other day.“
“5) Then the last one he does as to help with the dryness and keep eyes from sticking especially at night-time is a prescribed ointment called Erythromycin Ophthalmic. This one he applies while holding one eye lid at a time. Squeeze along the eyelid on top and on the bottom eyelids. Then another over the counter ointment called Refresh P.M.“
”This process we have followed every morning and at bedtime. He reminded me to mention to at least wait five minutes between every process. Hope this is helpful! I know it seems like a long process but the good news is that so far my husband does not show any changes and from what his Dr. said this is very good.”

14)  “I use warm wash clothes mainly, cuz it helped better than cold if I couldn't pry my eye open like it was stuck together from oozing all night…”

15)  “Eye abrasions are our most painful part of EB. My son is Junctional-nH and has gotten corneal erosion's since he was 6 months old. His first was from a fingernail scratch (we think,) but others have occurred from having dry eyes, the wind, and other types of scratches.“

”His erosion's usually last 10 days, but some have healed in 5 days and others take weeks. When he has an erosion, we give him alternating Tylenol and Motrin for pain. We keep him in a dark room and have the TV, music, or our voices as a distraction.“

”We follow his lead as to what he can or wants to do while he is healing. We put muro ointment in his eyes every 4 hours to keep it lubricated and to help reattach the cornea. If there is any sign of infection we alternate an antibiotic drop with the muro.  We have found that we can prevent most of these erosion's by using the muro ointment nightly.”

16)  “I use Refresh gel drops, then a strip of mepitac to seal the eye. I have too many young ones to get the rest I need, but the gel helps a lot. My eyes will get torn when I'm having an allergic reaction, grit in my eye, and sometimes just rubbing. Never from contacts though, oddly enough.”

Also, there are contacts that can be worn to help reduce the risk of corneal abrasions.  They can be used by most ages, even younger children (I have heard from one set of parents whose child is 2 and uses the contacts.  They said it has helped immensely in reducing corneal abrasions).  There are mixed opinions regarding the contacts.  Some doctors and patients think they are very helpful, while others feel they could possibly be hurtful.  The contacts act as a shield against trauma and/or friction.  I will be following this post with an update regarding the contacts once I hear back from the health professional I had asked for information about them : ) 


Please feel free to offer any tips, info or advice that may not be mentioned here!

Itching is a MAJOR issue for those with any form of EB.  The worse the itching, the worse the trauma to the skin.  Sometimes there will be wounds or blisters underneath healed, calloused skin which makes stopping the itch more difficult.  Often during sleep is when itching can be a real issue as scratching can occur while asleep.  Sleep scratching can cause more damage than scratching while awake as we are unaware we are itching, therefor unable to make the conscious decision to NOT scratch.  Our main sources of heat output are head, feet, hands, under arms and groin area.  Keeping these areas cool will help reduce over all itching.  Here are a few more tips that can help with this problem.

* Please consult a physician for healthy over all body/skin temperature levels when dealing with infants, young children and the elderly *

1)  Cool showers or baths which can be followed by partially drying with the cool setting on a hair dryer or standing in front of a fan.

2)   Cold socks (this can be helpful for those with itchy feet).  Store them in the freezer (regular, soft cotton socks).  Also, you can get thin socks, keep them in the freezer, and apply one pair then (in the second pair) put the ice-less ice cubes (you can find some brands that make them with a soft, pliable plastic coating instead of the hard plastic) in the second pain and then put on over the first pair.  This allows the bottom of the feet to remain cool.  This is only recommended for those that are not yet walking, are unable to walk OR are using them while sitting, resting or sleeping.  You don't want to walk on them as this could cause them to burst.

3)  Inserts for the top of pillows and mattress's that slide into the pillow case or under the bottom sheet.  They help keep the pillow cool, thereby helping the head, neck and shoulder area remain cool and the mattress pad helps keep the entire body cool.  You can find these items online.

4)  Ice packs.  They can be placed under the covers at bed and/or nap time to help keep them cool while sleeping.   Can also be placed in strollers, car seats and motorized chairs.  I recommend the harder plastic ones as they are not susceptible to leakage from accidental punctures.  They are very inexpensive and can be found in camping sections of larger stores or household/kitchen areas of smaller stores

5)  It's a good idea to keep several instant ice packs in the first aid kit that you keep in your car and your home.  If you are out and an itching attack occurs you can pop them and place on the itching until you can get to a cooler area or allow time for any medication you may be taking for itching.  My experience with the instant ice packs is that they generally stay cold for about 10-15 minutes and cool for another 10, depending on how warm or hot the area is where they are placed.  They can stay cold/cool longer if placed on an area that is, itself, not very warm or hot.

6)  There are prescription medications that can be prescribed by your or your child's physician that are supposed to help with itching.  I recommend asking your doctor for more information regarding those medications.

7)  Topical anti itch cream, sprays and gels can also be helpful.  Benedryl brand (generic version is as effective) anti itch cream, spray, gel, hydrocortisone creams, aloe vera gel and aloe vera cooling gel (can be found at most pharmacies or pharmacy areas in your local grocery store).

8)  Lotions and creams:  Alwyn Cream, Cetaphil Lotion, all Eucerin products (Aquafor), Calamine lotion (not sure if calamine stings, I suggest trying a small spot and see the reaction before trying on larger areas).  Aveeno products, Remedy (with Olivamine) skin repair cream (can be purchased through medical supply companies like National Rehab.  Their information can be found in the post prior to this one : ) 

9)  Bath products:  Oatmeal baths (either using regular oatmeal or oatmeal products like Aveeno).

 Please see the original blog post for a few other ideas that are under the heading 'Itching'

I hope these ideas are helpful!  I would love to hear any other suggestions that I may not have mentioned.  By sharing the information we have we can all help each other learn new ways to handle the effects of EB, thereby allowing us to live a happier, less stressful life : )

Epidermolysis Bullosa (EB)

                               
                            
         Epidermolysis Bullosa (EB)

                    


Epidermolysis Bullosa (EB) is a rare genetic connective tissue disorder that generally presents at birth with missing and/or blistered skin. Mucous membranes are often affected and can, in some types, also present airway and other internal involvement.  EB affects tissue both internally and externally and presents itself in 1 in 50,000 live births.  This genetic skin disorder does not discriminate between ethnicity or gender. No form of EB is contagious.


This blog is for anyone with any form of Epidermolysis Bullosa as well as family, caretakers, friends of those with EB and all who wish to learn about EB and help spread awareness.  My goal is to offer information about EB, wound care products and other supplies, as well as helpful tips from myself and others with EB.   

There are 4 main types of EB and many subtypes within those main types, each of which are caused by a mutation in different proteins within the genetic structure.  Below are the 4 main types and a few of the more common subtypes.

1) Junctional: Considered the most severe, and rare, of all types of EB.  Below are the main sub types of JEB.
  
   - Non Herlitz 
     - Herlitz
   - With Pyloric Atresia
   - Inversa

2) Dystrophic and Dominant Dystrophic: Considered to be milder forms of EB while Recessive Dystrophic, a sub type of Dystrophic, has many sub types which can be moderate to extremely severe in presentation.  Below are the sub types of Dystrophic along with the sub types of each form of Dystrophic.
   
   - Recessive Dystrophic
       - Hallopeau Siemens
       - Non Hallopeau Siemens
       - Inversa 

    -Dominant Dystrophic
     

3) Simplex: Considered to be the most common form of EB it has many sub types that range from mild to extremely severe.  While EB will never 'go away' some sub types of Simplex can become milder in presentation as the patient grows older.  Below are the most common subtypes of EBS.
    
    - Dowling Meara
    - With Pyloric Atresia
    - Weber Cockayne
    - Koebner's
    - With Muscular Dystrophy

4) Kindler Syndrome: A rare form of EB which is caused by a mutation in the Kindling -1 gene.

There is one form of EB that is not inherited but is an autoimmune disorder.  It is called Epidermolysis Bullosa Aquisita and generally appears later in life. EBA is not contagious.

I hope you find this information helpful and I appreciate any feedback or other information, products or tips that you think should be mentioned or you find helpful.  
I would like to thank everyone who volunteered information.  I greatly appreciate your contribution : )  I have not included names or personal information from contributors in an effort to protect everyone’s privacy.  If you would like recognition for your entry I am happy to do so, just let me know : )  Thanks for being a part of this project and for being such strong and beautiful people!

Some information regarding types/sub types were found at http://www.ebnurse.org