EB in the News

Patient 13 is coming home!

EB on TV

There will be a special on TLC tonight about EB.  It's called 'My Skin is Killing Me' and will feature 5 year old Payton, who is the 13th patient to undergo a bone marrow transplant in the hopes of curing his EB.


It is on today, December 15th at 8pm (est)

You can read about it on TLC's web site here

Bone Marrow Tranplant Patient #15

you can follow Charlie's journey and progress here

EB Butterfly Reunion

For those who haven't heard, during the weekend of February 11-13, 2011, befriend EB will be hosting the first ever EB Butterfly Reunion! It will be held at Universal Studios in Orlando Florida. The deadline to request tickets is December 27, 2010. Each family who registers will receive 3 free passes and have the opportunity to purchase additional tickets at the same discounted price we are getting them for! For more info on the event, tickets and hotel info, please visit the web site:

 

http://ebbutterflyreunion.com/index.html

Happy Birthday Garrett!!!

HAPPY 6th BIRTHDAY GARRETT!!!

We love and miss you very much!!!

you can read about his birthday celebration here

BBC Lineline Appeal for DebRA

This was recently on the TV station BBC in the UK:

Peace, Love and Aurbey Joy

 Oct. 6, 2010 - Nov. 17, 2010

"At 7:45 p.m., exactly six weeks to the day of her birth, Aubrey Joy Oberlin became an angel in heaven. She was surrounded by love to the very last minute. Rest now, baby girl. Rest now in peace. "

Visit her Facebook Page

Heaven's Newest Angels

This week Heaven gained two new butterfly Angels.

Joshua James Gibson lost his battle to RDEB on November 2, 2010.  He was 8 1/2 years old.  You can view his tribute video here:






Then, just yesterday, Elizabeth (Elle) Cady Pop lost her brave battle against JEB-H due to complcation of the bone marrow transplant she received just 42 days prior.  You can read her journey and leave a message for her family on their blog by click on the picture below:

"When someone you love becomes a memory, that memory becomes a treasure" 

~ unknown

a fitting quote

"Perhaps they are not stars, but rather openings in heaven where the love of our lost ones pours through and shines down upon us to let us know they are happy.”

~ an Eskimo Proverb

EB Awareness Week: In Loving Memory

It's National EB Awareness Week and today i'd like to honor and remember those who are no longer with us after their brave fight against EB.

Shannon P.
Ryan S.
Owen P.
Labrea
Heaven T.
Annabella R.
Abbi W.
Wesley S.
Leah T.
Baby Girl A.
Baby Boy B.
Braiden B.
Craig W.
Emberly P.
Gabriel V.
Gage M.
Grace P.
Jameson S.
Jayden I.
Landon S.
Lee L.
Lucy N.
William C.
Addison J.
Alex H.
Brandy K.
Braxton H.
Brida H.
Bursa
Derek J.
Devin R.
Emma M.
Giovanni W.
Jacob J.
Jacob L.
James U.
Jesse W.
Kara B.
Kaylee
Kyle O.
Le Andre S.
Matthew
Megan H.
Mia H.
Owen D.
Ryland B.
Sarah M.
Tabitha N.
Zach O.
Allie R.
Andrew C.
Angel J.
Anthony P.
Anthony M.
Caleb
Caleb E.
Corey C.
Cristina  P.
Emmaylou C.
Estefania
Grant T.
James L.
Jaylin P.
Justin C.
Kristin
Luis C.
Macey-Kate M.
Max B.
Nathaniel M.
Nichols D.
Robert F.
Sania A.
Xantha M.
Zach O.
Anthony U.
Austin J.
Debbie
Eric H.
Gavin F.
Joseph M.
Kate D.
Kelly D.
Kermitt T.
Maximus B.
Nicholas M.
Noel M.
Tille
Alma E.
Angelica T.
Brittany H.
Elliott S.
Erum K.
Ethan
Jennifer D.
Jordan L.
Josh
Justin L.
Kael F.
Kevin K.
Malachi B.
Kurt M.
Margaret O.
Michael T.
Montanna R.
Olivia K.
Sadie H.
Taliah
Anthony T.
Ava M.
Courtney A.
Garrett D.
Baby Girl R.
Harrison W.
Janna T.
Katie
Kayla
Lauren R.
Paige P.
Rebecca S.
Adam G.
Andrew A.
Andy B.
Baby Boy H.
Brittany W.
Eduardo P.
Brittany H.
Jordan H.
Katia S.
Kobe T.
Laney H.
Marianda M.
Brittany B.
Daniel S.
Dylan
Emma P.
Jamia F.
Kelly M.
Nyanjau M.
Quentin
Sarah C.
Sophia L.
Thomas S.
Tricia H.
Witt
Aaron F.
Adrain O.
Amber F.
Brogan A.
Donte B.
Ed K.
Baby Girl F.
Jack C.
Justin C.
Kiara F.
Nicholas S.
Olivia H.
Pat B.
Carlos F.
Caylin S.
Kaitlin P.
Kelly D.
Lisa V.
Travis S.
Trevor S.
Kenneth D.
Dana M.
Courntey S.
Crystal G.
Jaslyn
Madeline F.
Mallory H.
Michael S.
Ryan M.
Samantha
Sara N.
Shana
Susie T.
Taylor W.
Tony P.
Coleby M.
Jamie J.
Jennifer J.
Logan B.
Matthew A.
April S.
Cynthia R.
Landon T.
Andrew G.
Gary G.
Adam S.
Alex M.
Matt
Allison S.
Alex Z.
Ben G.
Matthew A.
Gus David M.
Susan P.
Tyler J.
Joyce S.
Christine A.
Lauren J.
Ryan M.
Joan B.
Kalie D.
Andrea W.
Natalie D.
Paul D.
Chuck A.
Jennifer J.
Baby Boy
Tyshera W.
Adam W.
John R.
Michael H.
Adrian I.
Simon E.
Debra H.
Irene C.
Christina C.
Avin B.
Denise G.
Jeffery G.
Michelle C.
Sean P.
Caroline F.
Mike
Jay
Katie
Kerry W.
Michael W.
Trevor L.
Drake F.
Xantha M.
Gabe W.

EB Awareness Week

Thank to Tripp's mom who allowed people to borrow this from her blog:)

Bella's Memorial Service

For those who can not be there but would like to "attend", here you go!


Anabella Ringgold's Memorial service in Como Park, MN in the Enchanted Garden. The memorial service will take place on Wednesday October 20, 2010 at 4pm Central Time (in MN) and be broadcast live on this channel

In loving Memory: Anabella Claire Ringgold {2009-2010}

Rest in Peace Bella

Heaven has a new butterfly angel...Bella Ringgold, age 1 year 4 months and 15 days, got her wings yesterday after braving enduring a bone marrow transplant to try and save her life. 

You can read her journey here

EB In the News: 10/6/2010

Despite genetic disease that causes his skin to peel off, Charlie Knuth, 4, 

of Darboy, is anything but fragile

Kendall's Butterfly Walk

KENDALL'S 1ST ANNUAL BUTTERFLY WALK/RUN
sATURDAY, sEPTEMBER 18TH
Community Park, New Albany, IN

10:00 AM

Recent EB in the news

New Hope For Local Girl's Rare Disease

Dylan Parr won't be welcome at hospital

Brave 'butterfly boy' loses battle 

against killer skin disease

 

Ezra's EB Fundraiser

Ezra's EB Fundraiser

 

Date: Sunday, August 8, 2010 at 11:00am

Place: Mane Stop Hair Salon

823 East Brandon
Brandon, fl 33511-5408
(813) 651-1360

Please stop by for a hair cut, food and prizes will also be available. If you would like more information, please contact DebRA at events@debra.org

 

Recommened Medical Tests for those with EB

*NOTE- this is no medical advice.  This is just the recommendation of one EB Clinic and its doctors in January of 2024.  Each person with EB is different and require different treatment plans and medical tests.  PLEASE consult your primary doctor with question regarding these tests for yourself or your child. 

Recommend Blood Work for All Forms of EB starting at age 1 OR for those who have never had blood work done before

TSH

T4 Free

Vit D3

CRP

Sed Rate

CMP (comprehensive metabolic which includes liver and kidney functions)

CBC w/ Differential 

Vit C

B12

Zinc

Other Yearly Tests that are Recommended for all forms of EB

EKG 

Echocardiogram

Dexa Scan

Infants with Junctional EB should have the following done starting at age 1 month due to malnutrition issues and months and as needed going forward:

CRP

Sed Rate

CMP (comprehensive metabolic which includes liver and kidney functions)

CBC w/ Differential 

Vit C

Zinc

Vit D3

Additional recommended test for those with RDEB, JEB or severe EBS and/or have a history of anemia, liver and/or renal issues

Ammonia

Full Iron Panel

Copper

Expanded Hepatic Panel

EB knowledgeable nutritionists are recommending the following nutrients, micronutrients and heavy metal panels at least once every 1-3 years and then repeat as needed based on previous results, patients nutritional status and overall health. 

• Vitamin A

• B Vitamins

• Thiamin – Vitamin B1

• Riboflavin – Vitamin B2

• Niacin – Vitamin B3

• Pantothenic Acid – Vitamin B5

• Vitamin B6

• Biotin – Vitamin B7

• Folate (Folic Acid)

• Vitamin B12

• Vitamin C

• Vitamin D

• Vitamin E

• Vitamin K

• Choline

• Calcium

• Chloride

• Chromium

• Copper

• Fluoride

• Iodine

• Iron

• Magnesium

• Manganese

• Molybdenum

• Nickel

• Phosphorus

• Potassium

• Selenium

• Sodium

• Zinc

 

Heavy Metals: Arsenic, Cadmium, Cobalt, Lead, Mercury 

Chewable Iron Supplements

For those who have a child who needs to take iron supplements you know how hard it can be to get them to take it!  Another EB mom found a great solution!!!  Chewable Iron Pills!  She said they are grape like Flintstones Vitamins and are child takes them willingly!

Chewable Iron W/ Vit C

EB In the News

A wish comes true for 6-year-old Temecula girl at Murrieta ranch

EB In the News

Butterfly Kids: 

When Skin Blisters Can Kill

EB In the News

Community rallies to help  

baby Elle with rare disorder

 

 

MacieFest 2010 to aid 'butterfly' babies

 

Updated: Stem Cell Therapy for Severe Forms of E.B.

You can search for EB Clinical Trials here

Info for the one at the University of Minnesota can be found here

(this page is a work in progress and as I locate/learn of more clinical trials I will update this page)

Here is the list of web sites for some of the kids who have undergone or are currently undergoing the transplant

#2 Sarah

#4 Keric

#5 Hannah

A Cure for Hannah

#6 Fallyn

Help Fallyn

#7 Samantha

Samantha's Caring Bridge Page

#8 Rafaella

Rafi's World

#9 McKenzie

McKenzie's Web Site

Caring Bridge Page

#10 EJ

Caring Bridge Page

#11 Daylon
 The first Junctional baby to go through the transplant


#12 Bella
(sadly Bella passed away from complication in October 2010)


#13 Payton


#14 Elle
(sadly Elle passed away from complications in November 2010) 



#15 Charlie

#16

#17 Nicholas

#18 Hailey

# 19 Quinn
(sadly Quinn passed away in May 2012) 


#20 Sahar 

#21 Jackson

Baby Elle

She has her very own web site!!  ( Facebook page too!)

The Butterfly Fund

Just wanted to share the link to an EB Organization that assists families that I recently learned about.  It's called The Butterfly Fund.  Check it out! 

Samantha's Story

I realized when I moved pages from the old site to this one I forgot to move the page with Sami's story on it!  So I figured I'd write it again.

Samantha was born at 34 weeks for no other reason that she wanted out!  She was 5 pounds 6 oz (very large for a 34 weeker) and was 19" long.  Her EB was present at birth- no skin on her ankles or wrists- and had no preemie issues from being born 6 weeks early.  But because of her EB she was placed in the NICU for 13 days against our wishes.

After coming home she was back in the hospital for a staph infection on her hand and was there about a week.  Two weeks after being released she got another infection but we were able to convince the doctors that she didn't need to be admitted and she was sent home with an IV and we went to the ER each day for almost a week for IV antibiotics.  After that it wasn't until she was 2 that she was hospitalized for another infection- this time cellulites on her foot. 

Sami's EB was very severe as an infant.  By the time she was 4 months old she was missing about 75% of the skin on her body.  Eating was a struggle and it wasn't because she couldn't eat, she didn't want to.  My BIGGEST regret was NOT getting her a g-tube when she was a baby.  By the time we decided to have one placed, we learned because of her stomach's shape and location a g-tube could not be safely placed.

By the time she was 1 we were able to reduce the amount of bandages we were using.   In simplex it is better to not wrap all the time because wrapping slows the healing process.  This is JUST in SIMPLEX and not other forms of EB.  Between the ages of 1 and 2 we wrapped even less and by the time she was 2 all we wrapped daily was her torso and other spots when needed.   Today she is almost 8.  Her skin still scraps easily and she has to be careful when playing out side and riding her bike.  She still gets some blisters and scraps and we spot wrap when needed.  She prefers to have wounds covered than air dry, but she does notice they heal quicker when we don't wrap all the time.

Some common milestones:

crawled at 13 months
walking at 19 months
sleeping thought the night at 3 years

She also has acid reflux and is lactose intolerant.

In addition to EB, Sami also had torticollis (shorten neck muscles) and severe congenital scoliosis.  But time she was diagnosed her curve was greater than 20 degrees which meant automatic brace but because of her skin it was not an option.  So we decided to take the 'wait and see' approach.  Unfortunately her curve progressed very rapidly.   But the time she was 2 1/2 her curve was at about 60 degrees and it started to impact her lungs and was diagnosed with restrictive lung disease.   We had no choice but to do surgery.  Some plates and screws were placed into her spine to try and slow the progression of the curve..  She did very well in the hospital and was released about a week later.

That bought us about 2 years and shortly after she turned 4 her curve had progressed to 85 degrees and it was impacting her heart.  It was now a matter of life and death.  She could have surgery and have growing rods placed which would need to be expanded every 6 months for the next 8-10 years.   The thought of her having major surgery and being in the hospital at least twice a year for many, many years was very upsetting.  The risk of infection was great not to mention the emotional impact on Sami.  We got a 2nd, 3rd and 4th opinion and made the decision to have permeant rods placed on her back.  It would mean just one surgery but it also meant that part of her spine would forever remain the size of a 4 year old.  It was a tough decision but it had to be made.  So on Halloween 2006 she had her spinal fusion and it went well.  The doctor only fused what he absolutely had to which was about 5-6 vertebrates.   Which allows the other vertebrates to continue to grow.  The surgery was about 10 hours and she spent a week in the ICU but did very well and doesn't even remember it!

Today her curve us stable- only moved a few degrees in the past 4 years.   She will need another surgery when she stops growing (hopefully not till age 12 or so ) to fuse the rest of the spine.  EB wise is is doing well.  Issues here and there but nothing major.

I always get asked why her skin does as well as it does and I honestly don't know.   I don't think we care for her any different than other parents who have EB kids.  But I think there are two things that may influence her great looking skin- she eats very little sugary foods and she eats/drinks very little dairy products.  Personally I think in her case is helps a lot.  But I also have come to realize she and I are the EXCEPTION when it comes to EB simplex dowling meara, not the norm.  I know many other kids her age and adults my age and people in between with the same form of EB and their EB still affects them a great deal and impacts their daily lives. 

Sacramento Baby With Rare Skin Disorder

Sacramento Baby 

With Rare Skin Disorder

Even all the good can't take away all the pain.......

Today I was speaking to another EB mom on the phone who lives near me and who sadly lost her baby to EB about 14 months ago.  We were talking about the hospital our kids were born.  I personally don't like that hospital and blame the doctors there for Garrett's death.  But that is another story for another day.  Anyways, she was telling me how much the place has changed and how they are set up much better to care for the next EB baby to be born there.  Since Garrett, there has been 4 other EB babies born, all boys, born at the very same hospital.  Only 2 are currently living.  But because of the things this place learn with Garrett and the mistakes that were made, they have come to realize how better to care for an EB baby and what things should be done and which things should not be done.  Which is a good thing, but I still will never trust that hospital to care for any of my kids EB or not. 

Even though I am glad these good things seem to be happening there, it still doesn't erase the fact that it cost Garrett his LIFE  for those thing to occur.  And that makes me so sad to think about that sometime.  Not matter how much good came from the situation....it can never take away all the pain of losing a child....

The good that comes from EB

I know those aren't two words you hear in the same sentence; good and EB.  But there is some good that comes from EB.  The biggest one; the friendships that form between people who are affected some way by EB.  Because 99% of the time, EB is the ONLY reason those relationships form in the first place.

I am on Facebook and I have about 535 Facebook friends. They are divided into 5 categories: family, current and former co-workers; friends from high school; friends from college; and those affected by EB somehow.  I went through the list the other day and about 1/2 of those 535 I only know because of EB!

I know EB sucks and its not fair for someone to be born with EB.  But EB is here stay (but hopefully for not much longer) so we must make the best of it somehow.  And the part that makes it a little bit better- are the people we meet a long the way.

I have so many wonderful in the past 7+ years.  Some have a child with EB; others lost a child with EB; and many have EB themselves. 

I also think those with EB have much more compassion for others; especially those with medical issues themselves.  There is a girl in my daughter's class that has some medical conditions; not sure what kind, i just know she can't be out in the heat either- so she and Sami go to an alternate activity when their class has PE.  Sami is so concerned about this girls health and makes sure she isn't too warm and such.    I suppose anyone can be compassionate, but I think those with EB (or any major medical issue) are more so.

So if you have trouble seeing the good in EB at time, think of these reasons I have listed here and maybe it will help make things a little easier.

PCC Hyatt Regency Update!

Due to high demand, DebRA’s room block at the Hyatt Regency has SOLD OUT. The entire hotel is also fully booked during the week of the Patient Care Conference. If you haven’t
reserved a room, here are two hotels close near the Hyatt Regency that were
highly recommended: 

The Westin Cincinnati

http://www.starwoodhotels.com/westin/property/overview/index.html?p...

21 East Fifth Street
Cincinnati, OH 45202
513-621-7700

The Cincinnatian Hotel

http://www.cincinnatianhotel.com/

601 Vine Street

Cincinnati, OH 45202

800.942.9000

513.391.3000

Both hotels have good rates and their availability during the conference dates were confirmed on www.expedia.com.  We suggest you book your room as soon as possible. If there are further developments, we will let you know.

Please contact the DebRA office at 212.868.1573 or pcannon@debra.org if you have any further questions

2010 Patient Care Conference agenda update!

Hello Everyone,

The following information is regarding recent updates to the 2010 Patient Care Conference agenda. The Agenda for the Patient Care Conference runs from Wednesday afternoon to Saturday morning. On Wednesday, registration is from 11:00am until 1:00pm. Afterward, an exciting roster of speakers take over the stage from 1:00pm - 4:00pm.

The Hyatt Regency Cincinnati’s official hotel check in time is 3:00pm. If you arrive earlier and your room is not ready, the hotel will hold your luggage until check in time. Hotel parking is $15.00 per day.

On Thursday, the program runs all day from 9:00am - 4:45pm. There is a break for lunch from noon until 1:00pm where we will enjoy “A Cincinnati Lunch Buffet”, then speakers will resume. At 5:00pm an Italian buffet dinner will be served. Families going on the aquarium trip can either eat in the dining area or make their meals to go if they wish to relax in their rooms before the big night out. Buses will leave from the hotel at 7:00pm then run continuously until everyone is at the aquarium. We have the aquarium booked until 11:00pm but some buses will return earlier to accommodate younger children who are tired.

On Friday, the program starts at 9:00am and runs until 4:45pm. A Southwest Buffet Lunch break is from noon until 1:00pm. The Speakers will resume at 1:05pm and speak until 4:45pm.
Saturday, June 19th DebRA will host a Continental Breakfast where everyone can exchange contact information and get to know each other.

Accommodations have been made for soft diets (including, ensure and boost) and kids’ meals. We will be happy to help you with any other food requests.

Updates will be made via Facebook/debraofamerica and debra.org if there are any changes to the agenda.

If you have any further questions, please feel free to contact the DebRA office at 212.868.1573 or pcannon@debra.org.

EB Event

Owen Porche benefit set for Sunday

an event in memory of a brave little baby who lost his battle to EB when he was just 41 days old.

Reaching Out For Owen: a look at his brave battle againt Junctional EB

EB Patient Care Conference Agenda

For those attending the patient care conference, 

you can find the agenda here

In Garrett's Memory

 Over 5 years ago I set out on a mission to help other EB families who recently had a child with EB.  If I could just help(prevent) one family from going through the same tragic situation we went though, then I know I would have made a difference.  So I became more active on the on-line EB groups, started my web site, and reached out to new families.  To date I probably have spoken with, emailed, visited or communicated though the various on line EB group with over 100 families in the past 5 years.  Many of these babies I have seen grow up into adorable little kids; others sadly, are now with Garrett running around Heaven EB Free.  While all those deaths were tragic, some of them hit a little closer to home than others. A few times I have come close to just walking away from it all; sometimes it's just too much to take, but most days I think, how COULD i just walk away?  Until there is a cure for everyone with EB, there will always be new EB babies and their families will need all the support they can get.  Plus I have gained a lot of great friends from the EB community that I wouldn't have otherwise met.   And as fellow EB mom put it 

"The sadness is sometimes too much, 

but the benefits/relationships/rewards are even greater"

But in doing so, I need to make some changes.  One of which is that I have decided to move the site from the other web address to this one.  It is for many reason; mostly because of cost.  This site charges nothing to have a blog/web site.  Where as the service I was using before was $130/year! And despite the hundreds of hours of work I put into the site, I just don't have the time to make it just how I want it.  And it wasn't getting as much traffic as I had hoped it would.  A lot of the ideas I had and continued to come up with were also ideas others have come up with and implemented them much quicker on other groups and sites.  Now if I were to do them, it would look like I was copying the same idea.  So I have decided it would be best just to move the site to here.  Its all the same information as on the old one.  Just laid out differently.  There are some things I like better on this site than on the other one, but I will also lose some of the things I liked a lot on the other site.  But I think it will be a good change and will still serve the same purpose that I had 5 years ago when I first created Garrett's House. 

One plus is that it will be easier for others that visit the site to see the most recent updates because the post go in date order.  This site will strictly before EB information and if you want to read about my family and see current events, pictures and updates in our lives, feel free to check out my personal blog- Three Busy Bees and Two little Butterflies- I post updated and pictures of the girls as often as I remember too!

So finally after a week or so of design work, copying, and moving pages, I finally got to the "I am good with the layout of this site" point.  I am so picky when it comes to certain things; they have to be just right!  I'll probably change somethings around at some point; if I find a template I like better or a different back ground.  I'll add more pages on EB as time permits.  There are so many other topics I want to touch on. 

But for now I am satisfied with how this site designed and lay out!  So take a look around, click on 'follow this blog' at the top (preferably publicly so I people actually read my blogs:)  and let me know what you think!  Also feel free to link me to your blog or web site and if I am already linked, please change the link from www.garrettshouse.org to this one which is http://ingarrettsmemory.blogspot.com

If you'd like to add a button to your blog or web site for Garrett's house, let me know and i'll send you the HTML code.

The other web address will no longer be valid after May 5th 2010.

Thank you to everyone for the support, advice and opportunities you have given me in the past 5 years!

Personal Pages of others with EB

A handsome little angel named Jameson

Daylon: His journey towards a cure

Keric: the 4th EB patient to receive the bone marrow transplant

Hannah: The 5th EB patient to receive the bone marrow transplant

Jonah and his journey living with EB

Evan: A happy little guy with Junctional EB

Little Lady Leah: An Angel in Heaven

Cristina's Story : "Through the eyes of a patient"

Everlasting Butterfly : In memory of an Angel named Ava 

In memory of Xantha Maree Marshall

Fallyn: the 6th EB patient to receive the bone marrow transplant

Samantha: the 7th EB patient to receive the bone marrow transplant

Rafi: the 8th EB patient to receive the bone marrow transplant

McKenzie:the 9th EB patient to receive the bone marrow transplant

Bruce and EB : "An Adult living with RDEB"

The story of an angel named Janna 

Oxlee's Place

Jonathon's Story

Jamie Gibson: An Ethereal Suite

Jessica and EB : A girl from the mid-west living with RDEB

Beautiful Daisy: A spunky little girl with Junctional EB

John-Hudson and EB : The stroy of a little boy in NYC living with RDEB

Grace : An Angel in Heaven

An EB Angel named Jennifer

**if you'd like your page added on her, please let me know and i'd be happy to include it!**    

    

Personal Stories of others with EB

Mrs. Pat Barbrey: Woman of Courage and Determination

By Gena Brumitt Gruschovnik 

   
 
My mother, Lillian "Pat" (Brumitt) Barbrey was born in Rogersville, Tennessee, on April 24, 1934, a premature baby at 6½ months. She was born with Recessive Dystrophic Epidermolysis Bullosa, or RDEB. The doctor assured my grandmother (Nana) that her newborn daughter would not live a day. When she arrived in the world weighing less than a pound, her skin had been traumatized during birth and slipped off in places. She was in very poor shape. The country doctor knew nothing of her condition, only assumed things would get worse rather than better. They wrapped her up and laid her by a chicken incubator to keep her warm, and Nana, who could not breastfeed, fed her baby sugar-water as if she were a hummingbird.

I’m pleased to tell you that God saw fit for my Mom to live nearly 66 years with this condition. She endured a great deal of pain, but she loved life and embraced it. All of her doctors said Mom lived longer with her severe form of EB (Hallopeau-Siemens subtype) than anyone else on record, and the National EB Registry confirms this.

My grandparents moved to Maryland when Mom was 10½, and took her to National Institutes of Health (N.I.H.) to see if anything could be done to help her condition. She was 29 pounds at the time. Two doctors checked her over, and neither knew exactly what they were dealing with. One was particularly insensitive, saying, "It’s just like cutting off a finger, you can’t grow one back!" The other dermatologist, Dr. Gant of Navy Medical, was a consummate professional. He said he thought he could help her, and this man devoted many years to working with Mom. At N.I.H., she had the first surgeries to separate fingers so her hands could be more functional, although recovery was very painful. He prescribed vitamins, gave her iron to combat anemia, and she continued to "work" her arms and legs to increase flexibility. One of the worst problems with RDEB is the drawing-up of the limbs, and Nana and Mom worked very hard at prevention. The slow, persistent bathtime exercises worked wonders.

Shortly after they moved to Maryland, Mom was out to supper with her parents. They saw a couple enter the restaurant with two children, one noticeably impaired. My mother asked Nana, "Mama, what’s wrong with that baby?" She responded, "Why, honey, that baby doesn’t even know it’s in this world. Remember what I told you? All you have to do is look around, and you’ll see someone who’s in worse shape than you are." Wasn’t that wise counsel for a sensitive child who might spend the rest of her life feeling sorry for herself because of her medical condition? Certainly, my mother adopted this sage advice, and lived it.

Mom felt her adolescence was somewhat delayed, recalling that she still played with paper dolls at 15—but she filled out a little bit by the end of her teenage years. She learned to drive and got her license, and that helped her to feel more mature and self-confident. She talks about one double-date she had: "The four of us went to the Shoreham Blue Room, and he was an Arthur Murray dance teacher! And we rhumba’d and samba’d and tango’d and cha-cha’d and did everything imaginable, and I guess that was one of the very best dates I had, until I met my husband, of course… but… don’t feel that you can’t go out and have fun, ‘cos you can. You just have to be careful who you choose to have fun with, and make sure that they’re gentle and kind and a good person in their heart… because you don’t want to get hurt."

She was such a lady! When I was a child, Mom always smelled of White Shoulders perfume; she wore fancy dresses with matching hats and purses, and tiny high-heeled shoes that she ordered from a catalog called "Cinderella." She stuffed the toes of her shoes with tissue to make them fit, because her feet were uneven and misshapen, and she had a hard time finding "ladies" shoes in her size. She took very good care of herself. Her makeup had to be just so, and her hair was fashionably styled (pink and green jars of Dippity-Do were permanent fixtures in our house).

I was born in 1960, and my mother and father parted ways before my birth. I was a "breech baby" and the doctors performed a C-section. It was difficult for Mom, especially when the skin on her abdomen rolled up "like a venetian blind," but she survived my birth and excelled at motherhood. The doctors had continually told Mom that her baby would have the same condition she had, but she insisted her baby would be healthy and she was right.

The role of being a mother came naturally to her. I had pneumonia twice as a child and often contracted croup. When I was sick and Mom couldn’t afford medicine, she’d take a basketful of her homemade baked goods to the local pharmacist, Doc, and he’d send her away with medication to nurse me back to health.

When I was little, Mom soothed me to sleep at night by gently, slowly tracing my eyes, nose, mouth and cheeks with her rough, scarred hands, a method I now use for my own daughter with decidedly less skill. She had a wonderful voice, and sang in a church choir in her youth, but I best remember her singing, "Oh, What A Beautiful Morning!" when she threw open the curtains on sunny days, "Avé Maria" at Christmastime, and of course, my favorite lullabies.

Mom worked full-time as a negative stripper for Vitro Industries, and part-time as a beauty counselor. When I started school, she was so worried I’d be distressed on my first day that she took the afternoon off from Vitro and drove to my school. She found me outside at recess, playing happily with several other children, and she sat in the car and cried, because I was growing up. She laughed when she told that story, as she often laughed at herself.

It was hard on me as a child when I suddenly realized Mom was different. Children at school were cruel to me because of how Mom looked, and I found it very confusing, because to me she was just "Mom" and I never looked at her through others’ eyes until then. I began to feel very protective of her, even as she was busily protecting me.Mom and Dad were married in 1966. She described Dad as loving, patient and understanding: "I’ve been very fortunate… I had a lot of joy and a lot of happiness in my life." My brother was born in 1967, and my sister in 1973, also C-sections. Doctors didn’t want her to get pregnant again, and absolutely insisted my sister be the last, so Mom had a tubal ligation. She said, "I took care of my children and I loved every minute of it, and they grew into wonderful human beings. I hope I had a little something to do with that. Now, of course, I’ve been going through this period with cancer, and… it’s not easy, it really isn’t. But we’ll make it though one of these days, I’m sure." Family and friends were the focus of Mom’s existence, and we feel very lucky to have had her shining example in our lives.

I remember when I first started dating. Mom would extend her hand to shake, like Jacqueline Kennedy Onassis meeting a head-of-state. Sometimes, a boy would automatically put out his hand, and then do a double-take when he saw Mom’s! Often, they’d turn white, their jaw might drop, or they’d jerk their hand back as if she had leprosy (the guys who treated Mom like she was no different from their own were bumped up a notch on my "may have potential" scale). My family laughed about these reactions, but I know what it must be like for you when people act like your disability is something contagious. This, second only to the physical aspects of EB, must be the most devastating thing about the disease.

Mom’s right hand was fist-shaped with the thumb slightly separated. She used it to grasp flat objects or hold a pen. The middle and ring fingers protruded from her left hand, which was not as functional as the right. Mom didn’t have fingernails or toenails except when she was very young, or lips to speak of. Her frenulum was abbreviated, so her tongue didn’t work as it should; her scalp grew hard little "seeds" under the skin; her elbows, knees and shins were very reddened and scarred; and from the wrist and ankle, her extremities were disfigured. Hand surgery results only lasted a few years because of persistent blisters and contracting digits. She had severe tooth decay and eventually had plates custom-made. Her eyesight failed somewhat and her tear ducts malfunctioned, resulting in reduced lubrication or "dry eyes." Mom lost most of her hair, beginning in her 30s. She wore wiglets, and then wigs, to compensate. Chronic sores were a real problem, sometimes taking months or years to overcome, but she never gave up. Until recent years, when better topical medications became available, Mom used just lanolin, gauze and paper tape for the daily bandages, which she applied herself 90% of the time.

The past few years of Mom’s life were extremely difficult, as the squamous cell carcinoma that started slowly became life threatening. Initially, her family doctor had removed a mushroom-like growth from her tongue. The growth was biopsied and the diagnosis indicated the sample might be cancerous, but her normal skin cells were so similar it couldn't be confirmed. Then, about five years ago, Dr. Parlett at University of Virginia (Charlottesville) diagnosed squamous cell carcinoma on her hand and foot. Perhaps smoking was a contributing factor (she’d smoked for much of her life), but this cancer has been linked to RDEB, usually arriving like an uninvited guest in the second or third decade of life.

Mom agreed to have cancerous cells removed several times from her left hand and right foot, but the cancer metastasized and further partial removal was impossible; amputation became the only choice. This was difficult for Mom, who had kept her mobility up to that point. Suddenly, she was wheelchair-bound after more than 60 years, which was very traumatic.

Mom had irritations and blisters in her throat all her life, but she didn’t have an esophageal dilation until recent years (scar tissue had built up so that her esophagus was more closed than open). She had a few dilations when, about a year ago, a new family physician (who had no experience with EB) attempted to dilate her esophagus and accidentally perforated it. Her lungs filled with fluid and collapsed, and she was rushed to the hospital. There, she suffered from pneumonia and nearly died, but beat the odds yet again. The result of all this was that Mom had to get a gastrostomy tube, and she was never able to eat again. I don’t have to tell you she rued the day she let an inexperienced (with EB) doctor perform that last dilation. Please, even if it means travel or extra expense, protect yourself and make certain your doctors know what they’re doing.

Mom was very glad to have lived a full life, even though it meant she sometimes took chances. Playing it totally safe would mean living like an invalid, and life is something one has to experience, if one can. Mom plowed ahead and made the best of it. She went to school, drove, worked, got married, cooked, cleaned house, and had three EB-free babies who gave her three EB-free grandchildren.

I also think it’s important that Mom had a child-like faith in God. She really trusted Him, and that gave her courage. She was eternally optimistic that things would go well, and she was happy with her lot in life. She was very compassionate, and she nearly always had a smile on her face, despite her infirmities. When Mom heard about ongoing genetic research, she was very excited about it for others who would benefit. However, she totally disagreed with termination of a pregnancy because a fetus tested positive for EB, because she felt that was like saying her life wasn’t worthwhile. I can’t blame her for feeling that way—she fulfilled her every dream, as humble as those dreams were. So many healthy people waste their lives, oblivious to their own good fortune.

Mom died of a particularly aggressive form of pneumonia on February 16, 2000. Antibiotics were unsuccessful in fighting the rampant pseudomonas infection. My family was gathered around her, having come to be by her side from all over North America. We let her know it was okay to go, that we’d be okay, and we knew she’d be with us always. Each time we thought a breath would be her last, she managed one more. I held her precious right hand, which had held me and soothed me and fed me and loved me, and she finally drew her last breath. I know she suffers no more from the pain she lived with all her life, but I will always miss her.

It touches my soul so deeply when I hear of children dying with EB, never having the chance Mom had to live life fully. If a cure is in the near future, what a wonderful thing that would be! In the meantime, I hope we can all try a bit harder to accept others. Groups of people don’t deserve to have labels stuck on them because of race, sex, religion, or a disability. You can be a capable, productive member of society, and my mother is proof. It’s up to you how you handle any prejudice you encounter. You can allow others to make you feel bad, you can laugh it off and overlook their ignorance, or you can attempt to make them better informed.

You are different; you’re unique in facing your particular challenges. Whatever you do, don’t allow yourself to feel like an outcast, or you’ll be additionally burdened by defeat. You must learn to feel comfortable with who you are, and keep it all in perspective. Remember, you’re a person first; it’s secondary that you were born with EB. Embrace life and practice being confident, because attitude really is everything! As W.E. Henley said, "I am the master of my fate, I am the captain of my soul." I know sometimes it’s hard to cope, but seek out others who can help you do it when times are tough. My brave, determined mother saw every day as an opportunity for happiness, and she loved with all her heart. I learned that from her and I hope you can, too. Mom was 65! Perhaps the common notion that there is little hope for life beyond 30 years is good for fundraising, but it’s a poor motivational message! If my mother can be a source of inspiration and hope for you, let that be her legacy.

Copyright © 2000 by Gena (Brumitt) Gruschovnik

**if you'd like to share your story, please email me and i'd be happy to include on my site.**