Baby on Board

By Emily Spurrier
From her Blog: Dys-Located

This is the sixth and final entry in a blog series on Epidermolysis Bullosa (EB) as part of EB Awareness Week (October 25-31).

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Earlier in life, I had envisioned myself having three children. I always said that the first would be a boy, the second, a girl… and the third could be whatever he wanted to be. I had a feeling that my first child with my former boyfriend would be a boy, but deep down, I had this irresistible hunch that my first child would be a girl.

In my teenage years, I babysat a little girl with light brown hair and the biggest brown eyes. I knew my daughter would look just like her. I never could envision what my son would look like. In my four years with him, I never could make sense of this. As a kid, I had dreams that I would marry a boy with blond hair and blue eyes. My boyfriend had brown hair and blue eyes. In hindsight, it makes sense now. His first child was a blond haired, blue eyed little boy. My husband is also blond with blue eyes.

Seven months into our marriage, George and I started talking about having children. More accurately, I started talking about having children. My husband was never fond of the thought of kids. If it was his choice, he probably would not have had any. After weeks of discussion, we compromised and opted to see how things went with one and immediately started trying, knowing fully the possible risks that went with me conceiving a child.

During a visit with an EB specialist in Minneapolis when I was 20, I was visually re-diagnosed with EB Simplex Dowling-Meara. Dowling-Meara has autosomal dominant inheritance, meaning I carry a 50% chance of having a child with EB with each conception.

We decided to roll our dice and take a shot. Our reasoning was that in the end, I turned out OK and thus, there was no reason to believe that my own child would not be OK in the end if it were born with EB. After five months of trying, we learned we were pregnant on June 5, 2003.

My new-found pregnancy was not greeted with all-positive reaction, however. Many were critical that I would have the gall to potentially bring another child into this world with this devastating disease. How dare I do that to a child? Others suggested that we weren’t ready to have kids. Really, when are you truly ready to have kids? I knew my clock was ticking. Early menopause ran in my mom’s family and difficulty conceiving and miscarriages ran on my dad’s side. I felt I had time and nature against me, and that I had to conquer them.

Immediately, we started putting things in motion to determine in advance if the baby had EB or not. We wanted to be prepared, as a child with EB would mean a complete change in our family dynamic, specialized clothing, bedding, diapers, footwear… everything. A baby with EB would mean that I would have to give birth at another hospital. I did not want to bring a child into this world with EB at our local hospital as they obviously had difficulty grasping the concept of EB, as they well demonstrated two years prior when I was in their ER.

Detection of EB cannot always be determined via ultrasound, though it has happened before. George and I, however, wanted to be 100% sure. In order to do this, we had to start with a biopsy on myself. I had to finally face my fear and get ‘officially’ diagnosed. My first memory of EB was when I was two. I was held down by my mother and two doctors as a section of skin was taken from both of my legs. I refused to look at my wounds for weeks. As a result, I ironically had a fear of seeing my own injuries throughout childhood.

On July 15, 2003, I went to the U of M Dermatology department alone. George could not miss a second day of work following a serious accident we had the day before. Nobody was there to hold my hand. Nobody was with me to calm my fears. At 7:30 am, though, I laid down on the table. It was a nerve-racking experience that I hope not to endure again anytime soon. The doctor started by trying to create a blister on my leg with a pencil eraser. After a few painful minutes of running the eraser across my leg we finally had a blister come up. He then numbed my leg with a little lidocaine and I immediately became anxious about the length of the needle and all of the sharp objects lying around! He then started taking 3 1/8-inch size circles out of my leg. He would do one, put it in a bottle, do another, put it in a bottle and then did a third one. The whole time I was shaking and sweating.

Blood doesn’t bother me, but a large amount of my OWN blood is a little disturbing (and always has been). I had to stop watching him. So, I just stared at the ceiling the rest of the time, reminding myself why I was doing this. I had my hand on my stomach the whole time whispering “its for the baby.. its for the baby.. its for the baby…”. It was then that the tears started.

After all was said and done, I had only 3 stitches. From there, I went to work. That night, George asked me a question which got me thinking. Though it was extremely unlikely, he said “What if the biopsy comes up saying you don’t HAVE EB?” The best response I could come up with was “I’d be devastated!”
I tried to give him an analogy as to why it would be rather devastating and I couldn’t think of one, except, “What if you were told after all these years you weren’t a Spurrier”. It’s a part of you and who you are. What if all the sudden you find out that’s NOT who you are? I would have been lost beyond words.

Within a couple of weeks, I received a summary letter in the mail stating that “The localizations of the type VII collagen, laminin 5, beta 4 integrin, type XVII collagen, plectin and keratin 5/8 are consistent with EB Simplex.” Well, we had that narrowed down. However, the ‘break’ in my DNA chain was one that the doctors in Philadelphia doing my testing has never seen before. Thus, she thought that though I do have EB Simplex, I just might have had a new mutation (perhaps an undefined form) of EB. For this reason, she requested DNA samples from both of my parents to be sure that this ‘break’ is EB and isn’t present in either my mom or dad’s DNA being that they don’t have EB.

And so, my parents went to their local doctor and provided blood samples. On November 12, 2003, exactly 29 years to the day after I was taken home to die from EB, I received another letter

“A single mutation designated 547-549delATC was identified in exon 1 of the keratin 5 gene from the sample submitted by Emily Spurrier (nee Holloway). This mutation results in the deletion of an isoleucine at position 183 of the keratin 5 protien, which is a highly conserved and critical amino acid for the functional keratin 5 assembly into tonofilaments. This mutation has never been reported, however, amino acid substitutions at this position have been reported to cause Epidermolysis Bullosa Simplex, Dowling-Meara and have an autosomal dominant inheritance pattern. Neither of Emily’s unaffected parents carried this mutation confirming that it has arisen de novo.
Recurrance risk to any offspring of Emily’s is 50% with each pregnancy. Prenatal diagnosis can be offered to this patient at any time for the presence of the mutation in a prenatal amniotic fluid or CVS sampling”

In English, this translated to the fact that the break in my DNA so to speak had been located in my keratin 5 gene (we all have a keratin 5 gene.. just mine is malfunctioning). There is a missing amino acid in this keratin protein that is causing my EB. This amino acid is critical in keeping the layers of skin on the body intact.

They had never seen this kind of break in DNA before, which means I’m an original, however the results of this break are synonymous with the characteristics of EB-Dowling Meara. So, I was right. There was a 50% chance that Kathryn would inherit my exact EB type. I was welcome to go ahead and do prenatal testing for EB on her if I so chose. I called my OB and left a message to set up an appointment for that so that George and I are more prepared come February since an infant with EB will bring about more changes than simply just an infant in the home.

Now, it seemed, even before her arrival, every appointment I made, every schedule change at work and almost every step I took those last few months were all for Kathryn. We went into this knowing full well that I had a 50% chance of passing my disorder on to my child. I did everything I could to explain it all to George and what would be physically involved, however, he still was not fully prepared. Hell, I don’t think even I would have been prepared. Nevertheless, we were both still looking forward to meeting this little girl for whom we’d already done so much.

For this reason, it appalled me that there were doctors out there who believed I would be selfish enough to want to terminate my pregnancy simply because she had EB. I didn’t go through everything I have to conclude it myself. Granted, had George and I known we’d be through everything we had, we certainly would have waited, however, I’m not one to create a life on purpose only to end it six months later.

In late November, I got a phone call from Dr. Bloom, the EB specialist in Minneapolis.

To backtrack, Dr. Bloom is the doctor who did my biopsy in June of that year. I didn’t really think very highly of him and he doesn’t have the best bedside manner. When I saw him back in 1997 for a visual diagnosis, he took several clinical photos. I thought he was just going to take a few photos and be done with it. But no, he had to bring people in to observe too, which made me very uncomfortable and some of the pictures he took weren’t exactly what I expected either. Then, when he was talking about what he thought I had he said directly to my mother “When your daughter decides to have children, most likely she had a 50% chance of passing it on”. Mind you, I was 22 at the time and an adult. There was no need to tell my mother this as if I were a child.

Fast forward back to 2003. Dr Bloom calls me and says “Emily! Guess what! We got the results back from your tests!!”

“Er, what tests?”

“The DNA tests.. we just got them back, you wanna hear the results?!?”

“Um, Dr. Pfendner faxed those directly to me a week and a half ago”

“Oh.. well you wanna know what they mean?”

Well, I have a pretty good idea what they mean but try me”

“Well, first of all, neither of your parents have EB”

No kidding? Tell me more I’ve known all my life

“Right..”

“And this means that your EB is a mutation.. meaning you’re the first to have it”

Well I’ll be darned.. there you go again!

“Right, I knew that”

“This means that your EB is autosomal dominant, and that you have a 50% chance of having a baby with EB”

Didn’t we cover this in August when my first set of results came back??

“OK.. and?”

“Well, this means that from now on, you don’t have to wait until late in the pregnancy to find out if your baby carries EB. You can find out right away via what is known as an amio. An amio is…”

This is the part where I roll my eyes

“I know what an amio is, Doctor. I have one scheduled for December 2″

“Oh… um… gosh…. well… What is your anticipated pregnancy completion date?”

“You mean my due date?”

“Yes”

“February 14, 2004″

“How far along are you?”

“27 weeks”

“It might be too late to do an amio.. because you’re pretty far along in the pregnancy”

“According to the docs its not.”

“Well, you were going to terminate if the baby had EB, right?”

Mind you, this is the part where my only facial expression at this point is shock… I was so angry that he actually had the audacity to say this to me!

“Um…. NO.. we have every intention of completing the pregnancy”

“Well, then why are you doing the amnio? Who exactly is doing this?!”

“My perinatologist is doing this and I have an appointment with my genetic counselor at my clinic just prior to this”

“Well, you know, all its going to tell you is whether or not your baby has EB”

What the…????!!

“Um, yes.. i know”

“Well, then what is the purpose?”

Again, shock.

“So that George and I are better prepared!!”

I explained to him all the reasons for our wanting to know ahead of time and he cut me off and I ended the conversation at that point, thanking him for the phone call and hung up.

Needless to say that if Kathryn did have EB, she was never going to meet this man! I was floored! I told him three times we were NEVER intending to terminate the pregnancy, but he seemed to have it stuck in his head that my only reason for testing was because I wanted to terminate if she had EB. To me that’s like saying that I’d want to terminate if she had my brown hair instead of George’s blond!!

The way he put the part about termination really struck a chord with me. Granted, I cannot speak of other people who are or will be pregnant with EB, but I told Dr. Bloom on numerous occasions that Kathryn was not an “accident”. If that were the case, does he actually think I’m the type of person that would play pregnancy roulette and test every time I would get pregnant in anticipation of aborting if the child has EB?!

Our Amniocentesis was on December 2, 2003, just before George’s 23rd birthday. The goal was to get 2 vials of fluid in the mail via FedEx by 3:15 p.m. so that they could be overnighted to Philadelphia, which is where the lab was that determined whether or not Kathryn has EB. It started with just a standard ultrasound to measure her and to make sure that there was room to draw fluid from. We saw that she was indeed still a girl.

After we did this, I was then doused in antiseptic and alcohol and then covered in a cloth. George held my hand and patted my head as they stuck the catheter into my upper belly. This was extremely painful.. more so than a small needle prick. The needle was then inserted into the catheter and the fluid was then drawn from me. I was able to watch the procedure on ultrasound the entire time.

The pocket of fluid was taken from behind Kaci, so there was no danger of injuring her in the process. The needle was inserted far from her bottom, however, just after the needle was inserted, Kaci decided to back her little bottom right into the needle. It didn’t prick her because the doctor angled it away from her, however, her bumping it with her rear end was slightly painful for me. Just about 30 seconds later, she removed the catheter (which again, hurt) and all was over. All that was left was the soreness as if I had been bruised. I was then monitored for an hour to make sure I wasn’t having any contractions and to make sure that Kaci’s heart rate remained the same.

On December 22, 2003 at 10:30 a.m. my phone at work rang. I had a hunch I would get the results just prior to Christmas, and also had a feeling it would be the best Christmas present yet. I picked up the phone. “Mrs. Spurrier, I have wonderful news… oh wait, I have to verify that you are Mrs. Spurrier first… ” were the first words I heard. I could barely choke out my identifying information. I knew what the call was about from the moment she said “Good news”.

The results officially indicated that Kathryn Cecile Spurrier did not carry the mutated gene that causes Epidermolysis Bullosa. I choked a thank you out and excused myself from my desk. I sat in the cafeteria of my workplace sobbing. I called my father in law first, still sobbing. “Emily, what’s wrong?” he kept asking. All I could say is “Nothing. Absolutely nothing is wrong.” My actions and my words contradicted each other according to my father in law. After a few minutes, I was finally able to squeeze out just how they did not.

I then called George. He never has been one to show emotion and is rather indifferent about many things. It’s actually how he acquired the nickname “Eeyore” when we first met. It was the only time I’d ever heard him get choked up. Then, I called my parents, who were equally happy. George and I were free to start looking for Daycare for Kaci without having to worry about special needs. I was free to register for all the lacy, cute and pretty outfits I wanted. I could get as many diapers as I needed. My baby was healthy.

I went into labor on the afternoon of February 11, 2004. By 3 am on February 12, we were at the hospital with full-blown contractions. I opted for a normal delivery with an epidural, as there was nothing on my end that we could see that would do me better by having a C-Section. I also delivered at the same hospital I visited two years prior in their ER.

February 12, 2004

By ten that morning, I was pushing. This caused more damage to me than anything. Two hours and fifty-two minutes of situps, is basically what I did. Luckily, the epidural kept me from feeling the layers gradually peel off of my lower back with each push. This, of course, was not something I had considered in my birth plan.

Kathryn came into the world at 12:52 pm on February 12, 2004. The first thing I noticed when I saw her was that she had George’s chin. The next thing I did was unwrap her and check her from head to toe, rubbing her everywhere to make sure her skin stayed on. I needed to know for sure. I needed to know that nobody made a mistake somewhere along the way… that my baby’s skin was normal. I rubbed her feet, checked under her diaper, looked around her ID bracelets. Everything was fine.

The stress of a newborn, the damage to my back and now new blisters that were forming on my right arm from having to constantly hold an infant were taking a toll on me. Within a month, I had staph again.

I couldn’t breastfeed, for what should now be obvious reasons. I did manage to pump for nine weeks, wincing in pain each time. Lanisoh was my hero and helped me quickly heal enough to tolerate the next feeding.

George and I had won the lottery. We had a feeling she would be our only child. The following December, it was a solid decision. A friend of mine learned she was pregnant when Kathryn was a few weeks old. She, too, has Dowling Meara EB. Her son was born on December 6, 2004. Within 12 days, Garrett was gone. I called George in tears. “Done,” I said. “We’re done.”.

We made sure of it, coincidentally, on our sixth wedding anniversary.

Kathryn knows why she is an only child. She knows that if mommy had another baby, it could be very sick. She knows she was lucky, as she has seen photos of babies with EB, including myself. George and I were indeed very, very lucky.

Now, if Kathryn gets a scrape or an injury, I react immediately. Sometimes, I’ve even been known to over-bandage. It’s all I know.

Emily was born in Southwestern Louisiana and has moved over 20 times in her life through nine different states. Most of her life was spent in the Twin Cities of Minnesota, where she met her husband and had her only child. Both she and her husband are also only children.

Emily was born with EBS-DM (EB Simplex, Downling Meara), and was in a wheelchair as a result until she was 18. She started improving at around 15, and this is why Kathryn is an only child.

She graduated from Stillwater (MN) High School in 1992 and from the University of Wisconsin in 1997 with a BS in Journalism. Three years later, she met her husband, George, and they married in 2002. Their daughter, Kathryn, was born early in 2004.

She relocated with her family back to Arkansas in 2005 after being away for 30 years. She currently works for the Arkansas Democrat Gazette as a Web Clerk and lives in North Little Rock.

When not taking care of her daughter, cooking, working, cleaning house, sewing, gardening, kn

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Further Into Adulthood

By Emily Spurrier
From her Blog: Dys-Located

This is the fifth in a blog series on Epidermolysis Bullosa (EB) as part of EB Awareness Week (October 25-31).

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Following the demise of my first serious relationship, I figured honesty was still the best policy with those I had dated. With the first potentiality, however, intimacy was not an option, for he feared injuring me due to my EB. I was crushed. My worst dating fear had come true. I reverted back to my “Don’t ask, don’t tell” personal policy.

The following April, I had no choice but to tell.

My roommate and I had some friends over for dinner and beer. Around midnight, I tripped on an air mattress we had on the floor, fell against the sofa and completely dislocated my left knee. I landed, stuck between the sofa and the air mattress, on top of the feet of one of our guests. We called an ambulance and for the next three hours, he and I talked about the wonderful time we were having.  Though the ambulance showed up within a short amount of time, my morphine allergy prevented them from giving me anything for the pain except nitrous oxide. Inch by inch, they moved me to the gurney. By the time they loaded me onto the ambulance and got me over to the hospital I was delirious.

Once at the hospital, I was given an IV with pain medication. I insisted that they not use adhesives on me, and it was listed on my medical record to not use them at all. I begged for a tourniquet and gauze to hold the IV in place. “Oh, it’s OK,” said the nurse as she taped the IV to my arm, “It’s hypoallergenic tape.” I didn’t have the consciousness about me to rebut her any longer. Next thing I knew, the doctors and nurses were counting to three and they popped my knee back into place. I later learned that my screams could be heard all the way in the lobby, where my roommate and male guest were waiting. The second scream came about half an hour later, when they ripped the tape off my arm. It was then that they discovered just how serious I was about my ‘no tape’ policy. I later told my male guest that he should have come back with me, to translate my persistence into English. He stayed at my house for another two days to make sure I was OK. We watched Monty Python together and he laughed at my Vicodin-induced antics. Two years later we were married.

I can’t wear heels of any form. Most nice flats only last a couple of hours on me before my knees give out, blisters form around the outsides of my feet and my lack of ankle support. I was married in sequined slippers. Thanks to them, I was able to walk down the aisle, dance with my father, husband and Man of Honor. I did the Electric Slide, the Macarena and only remember sitting down for dinner and removal of my garter. I did have some significant trouble moving the next day. We were forced to cut our camping trip short because massive blistering from the stress and activities of the past week and being one with nature do not combine well. But hey, I achieved my goals.

Now, my biggest worry is staph. Since moving to Arkansas in 2005, the heat and humidity have caused it to come more often. In fact, three years ago, my right elbow swelled to the size of a golf ball, I had blistering all up and down both legs, and I was breaking out into cold sweats and shakes. I was placed on Doxycycline, which we quickly discovered I have adverse reactions to. The pain was intense and I was throwing up with violent frequency.  A trip to the doctor showed that I was near systemic. I immediately switched antibiotics. The stresses at home and work had impacted me to the point where it made me sick. I was put on an aggressive round of Dicloxacillin and missed a month of work. Finally, while I was still on leave from work, my husband took me on a fishing trip to Southern Missouri. After a few sunny days on the boat, I was feeling much better and my skin almost immediately cleared up. I started searching for another job, but felt that the only thing I could do was more customer service. I would be right back in the same unhealthy position. On the flipside, however, a sitting job was what was best for me. It was a long process of finding exactly the right job.

In February 2009, I had one more foot surgery to remove a spur on my left foot. It was hurting and hindering what ability I had to walk. I was put in a  soft cast and was given crutches to use. I couldn’t use the crutches, as they immediately caused severe blistering on my arms and hands, making me even further immobile. The pain caused me to move slowly, thus making it impossible for me to make it to the bathroom, or wherever I had to go and back to my desk in the allotted time I had while working in a call center. In such an environment, any form of tardiness could result in disciplinary action.

One day, still unable to put pressure on my left foot, I attempted to get up from the sofa using only my right foot. My knee slipped out of place and I fell to the ground. Slowly, and in tears, with the help of my husband, I made it back to the sofa. I took another leave of absence and requested approval for a wheelchair.  It had been fifteen years since I’d used one and the pushing of a manual chair was causing blisters on my hands. I couldn’t go on like that. I urged approval to go ahead and push me ahead to go into a walking boot as my husband could no longer help me get around. The walking boot, however, was no picnic, either. The constant rubbing on my leg from the walking boot caused blistering that no amount of cloth barrier between it and my leg could prevent. Within four weeks, instead of six, I was out of the boot and walking normally. I still took another two weeks off, however, to ensure my amount of walking was limited and to give myself time to heal from the infection that the boot kindly gave my leg. I was on Ciprofloxacin for two weeks.

Over a year later, however, I was still working for the same company and was taking FMLA leave often. By June of 2010, I was having anxiety attacks combined with uncontrollable infections. My health was my first priority. I had to leave. I left my job of five years. I left my mid-range five-figure income and stayed home with my daughter living off of savings. I hadn’t felt so healthy in years.

Since the birth of my daughter, I had been getting inexplicable rashes in random places. They’d appear after wearing fleece, but we ruled it out as being an allergy as I’d also get them after picking her up. They’d erupt late at night. We ruled out detergent and red dye.  I’d get them on the tops of my feet. We eventually ruled out my socks. My mother had breakouts as well and she was eventually diagnosed with eczema, which is hereditary. I asked my dermatologist and he confirmed that I had indeed inherited it from her. I had eczema in addition to my EB. The two are treated completely differently and yet, one is always causing an outbreak in the other. Sweating, slight friction and stress cause my eczema to flare. Scratching the resulting hives, more stress and friction causes the rashes to develop into an EB-related mess. Today, it’s a constant mix and careful balance of creams, antihistamines and antibiotics (most of which I’ve become resistant to over the years).

I am working a job that causes significantly less stress and is much more accommodating to my health needs. As an added bonus, I’m working in the field I went to school for again. EB isn’t as much of an issue as it was as a child, obviously, but it’s still hovering above me.

This past Friday, as a matter of fact, I was on my feet from 6 am to 10:30 pm. I took my daughter to a carnival and though I could feel my feet swell from an erupting blister I let her go on “One more ride, mommy.”. Sometimes the reward of seeing her joy is so worth the sacrifice I make, even if it is painful.

Tomorrow will be my last installment for EB Awareness week… and probably the most emotional journey I had to take on this road to date. Stay tuned, as you’ll notice I left out a pretty significant event in my life in this entry…

Emily was born in Southwestern Louisiana and has moved over 20 times in her life through nine different states. Most of her life was spent in the Twin Cities of Minnesota, where she met her husband and had her only child. Both she and her husband are also only children.

Emily was born with EBS-DM (EB Simplex, Downling Meara), and was in a wheelchair as a result until she was 18. She started improving at around 15, and this is why Kathryn is an only child.

She graduated from Stillwater (MN) High School in 1992 and from the University of Wisconsin in 1997 with a BS in Journalism. Three years later, she met her husband, George, and they married in 2002. Their daughter, Kathryn, was born early in 2004.

She relocated with her family back to Arkansas in 2005 after being away for 30 years. She currently works for the Arkansas Democrat Gazette as a Web Clerk and lives in North Little Rock.

When not taking care of her daughter, cooking, working, cleaning house, sewing, gardening, kn

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Into Adulthood

By Emily Spurrier
From her Blog: Dys-Located

This is the fourth in a blog series on Epidermolysis Bullosa (EB) as part of EB Awareness Week (October 25-31).

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By the time I was fourteen, I was able to walk long distances, but could not do so in shoes. I was in an adapted physical education class because I was not able to do pushups. Pull-ups would shred my hands. Asking me to run sprints was like asking a turtle to play fetch. It was impossible. I had days where I would come to school in slippers because my feet were so swollen and sore. Other days, I would walk a mile.

That same summer, I had my first of many orthopedic surgeries. Because the pain involvement on my left foot was often greater than that on my right foot, I had a tendency to walk on the ball of said foot, while the right foot remained pronated. My achilles tendon was lengthened to help bring the left heel down. Now, I was wheelchair bound with a cast for the next six weeks.

Shortly afterwards, we moved from the Los Angeles area to Minnesota. Almost immediately, my skin started healing faster and my endurance was higher. As previously stated, however, I was depressed and immensely self conscious. My feet were my biggest issue. Shortly before my sixteenth birthday, I had a second surgery to completely reshape my right foot.   Years of walking incorrectly had collapsed the arch on my right foot and caused several of the bones that are naturally on the top of a foot to shift to the inside. I spent another six weeks in a cast, found out I was allergic to morphine and learned that I could never use crutches. A week later, my aunt died suddenly.

Outside of school, anonymity had become my friend. I acquired a pen-pal through an international service. I consciously chose not to tell him about my EB. I didn’t want him to treat me any differently than he would treat anyone else. I held my tongue often when he would ask me about outside activities, but still shared with him stories about my friends, trips to the mall, and most any other typical teenage angst story that was common for anyone my age. Within a short time, we were sending audio letters back and forth. He talked me through getting over the death of my aunt, the loss of a close friend and several other issues that contributed to my depression, but never did I mention to him that I had EB. We remained close until we were 18 and then, the letters stopped. To this day, I credit him for being that person to talk to and open myself up. It was him who helped crack my shell.

By the beginning of college, I was no longer using the wheelchair, at all. I walked to all of my classes (in shoes… sometimes boots) and conquered the Mall of America on foot. When this new-found freedom came boys, parties and the college and life experience that I personally felt I had been hindered from for so many years. I rarely told people about my condition, and felt that it was only a need-to-know basis. At the same time, however, I’d wear shorts or tank-tops that obviously revealed my scarred legs. This became an issue at one point a few years later… One that I never thought of.

I attended three colleges between 1992 and 1997. I had many friends of both genders. My best friends, however, were male. They were my protectors, my rocks and my brothers that I never had. None of us ever talked directly about dating each other. It was sort of an unspoken rule between us all that we never would.

While in college, however, I managed to dislocate my knees twice. Once, it required an ambulance ride and an immobilizer. My years without walking had weakened my knees and caused my kneecaps to grow higher up than other people’s. This instability led to countless rounds of physical therapy until my muscles strengthened enough just from walking to keep my knees stabilized. Additionally, arch supports had become mandatory. Without the support in my foot, my ankles still turned inward, causing the rest of my lower body to become misaligned, which, in turn, caused my knees to ‘slip’ in and out of place, and now taking the best bodybuilding supplements is necessary if I want to achieve something when I work out.

Then, I turned 21. While enjoying one of my only “quiet” evenings of the week in my friend’s dorm, I was asked out by one of her friends. Perhaps it was my rookie status in the dating scene, but we only lasted two weeks. I never told him about my physical health. Shortly afterwards, I accepted a date request from someone I had previously turned down. At the end of the date, I opted to open up to him and tell him about my EB. If it was going to turn him off, it might as well be then… before anything became serious. I approached the topic cautiously, telling him there was something I wanted to tell him about myself and that if he changed his mind about a second date, I would understand.  “I figured that’s what it was from day one,” he replied. “We studied about it in genetics class.” I was hooked. We were together for four years.

In those four years, he witnessed one more emergency orthopedic surgery, and several infections that come naturally with EB. He also witnessed me question my initial diagnosis of RDEB.

With the increasing popularity of the internet came the accessibility to directly speak to others with EB. I discussed my symptoms with others, including my hypermottled pigmentation, elongation of wrists and vast improvement with the onset of puberty. These were all characteristics of those who had EB-Simplex, not Recessive Dystrophic EB as I had been diagnosed with at a very young age. In fact, back in the 70s, many people I spoke with who had EB-Simplex had been misdiagnosed with RDEB around the same time and questioned their diagnoses themselves as they, too, were still alive. Second biopsies had confirmed for them the misdiagnoses. My first biopsy at the age of 2 was traumatic and consequentially caused a phobia of such procedures. Thus, I opted against getting a clinical re-diagnoses and settle for a personal one of EB-Simplex Dowling Meara.

Following my graduation from college, came the question of vocation. EB, naturally, limited my choices for employment. I couldn’t work with my hands. Waitressing was out of the question, as there was little chance my feet could endure an intense eight-hour shift. I assumed I wouldn’t have made much money as an exotic dancer. My potentiality at a career in professional sports was shot at an early age and I would have never survived boot camp had I entered the military.  Sarcasm aside, my choices were limited. I chose journalism, which later led to two years managing a book store and then ten years in customer service.  While at the book store, someone noticed my skin and scarring. The customer pulled me aside and provided me information on domestic violence. She told me that if I needed a place to go, she could help me, that it was never OK for my boyfriend to beat me. I explained to her that he never laid a finger on me, that I’d never been beaten by anyone and that I was born this way. Embarrassed, she apologized profusely and thanked me for understanding…

Emily was born in Southwestern Louisiana and has moved over 20 times in her life through nine different states. Most of her life was spent in the Twin Cities of Minnesota, where she met her husband and had her only child. Both she and her husband are also only children.

Emily was born with EBS-DM (EB Simplex, Downling Meara), and was in a wheelchair as a result until she was 18. She started improving at around 15, and this is why Kathryn is an only child.

She graduated from Stillwater (MN) High School in 1992 and from the University of Wisconsin in 1997 with a BS in Journalism. Three years later, she met her husband, George, and they married in 2002. Their daughter, Kathryn, was born early in 2004.

She relocated with her family back to Arkansas in 2005 after being away for 30 years. She currently works for the Arkansas Democrat Gazette as a Web Clerk and lives in North Little Rock.

When not taking care of her daughter, cooking, working, cleaning house, sewing, gardening, kn

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Gabriel’s Story

When we found out we were pregnant we were so excited, we had been trying for 6 months. After a typical 9 months of a perfectly normal pregnancy, I gave birth to a beautiful 7lb baby boy which we named Gabriel, after the Angel in God’s Army. Little did we know  what a soldier we had and how fitting this name was for him.

Gabriel was prefect. We noticed he was missing skin on his wrist and on his ankle. The Doctor assured me it was nothing to worry about, he must have hurt himself during the birthing somehow. We were also concerned because his circumcision looked abnormal. The skin left looked raw. The Doctor told us it was fine. Two days later we were released from the hospital to go home and introduce him to his big sister Maddison. Everything was normal and fine for about a week. The missing skin had healed and there was nothing to indicate anything unusual. However, he started to get big blood blisters on the heels. Both heels were solid blister. We discussed it with his Doctor when we took him to his 2 week appointment. The Doctor had no clue. Maybe his skin is just soft and he’s blistering when he kicks was the Doctor’s assumption. Come back next week and we will see how it looks.

We went back and it was still constant blistering. Confused and with no idea why Gabriel was blistering, he referred us to a Dermatologist at Children’s Hospital. They had set the appointment for 3 months later. I called and begged for an earlier appointment. My son was blistering and we had no clue why. He was hurting and I couldn’t fix it. They finally agreed. At a month old we went and saw the Dermatologist. After looking at him she said it looked like Epidermolysis Bullosa. I had no idea what she was talking about. I just looked at her with total confusion. They decided to try a test. They took a pencil and spun the eraser to see if they could induce a blister. That was a fail since it just sheared the skin off altogether, so they cut a piece of skin off to send for testing to confirm. She gave us a pamphlet and told us not to Google it.

Being me, the first thing I did was Google it as soon as I got to the car. The more I read the more scared I was. The more pictures I saw, the harder I cried. Telling our family, it was hard to even get the words out. They, like me, had no idea what I was talking about either. I tried not to worry until they received the confirmation, but as a mother, it’s impossible to do that. A month later we returned and got the confirmation I had prayed so hard that it wasn’t. I broke down. My question was mostly Why? Why was my son going to live with pain? Why was there no cure? Why couldn’t it be me? Why just filled my mind. His blistering progressed from his heels to his hands, to his knees, elbows, fingers and toes, back, ears, and lips… the list just kept going.

As he began to grow, the blisters and tearing of the skin began to worsen. I was terrified of crawling, which he began to do at 7 months. His knees looked like he had slid across concrete. We kept it all wrapped to try and avoid as much pain as we could. At 10 months he began to walk. With every stumble my heart would drop. Multiple times his palms were nothing but raw flesh. Keeping him wrapped began to be a problem because he would take the bandages off. This caused so much pain. He would cry and scream.  I held myself together as I wrapped him again and rocked him, holding back my tears, until he fell asleep and was in bed. Then I would excuse myself to lose it for a bit. I never have let my children see me lose it. I put on a strong and brace face through the day, and at night, when everyone was asleep, I would let it all out and finally fell asleep praying to wake up from this nightmare.

You may assume because Gabriel’s skin isn’t attached he would just sit around and sulk. However, that idea couldn’t be more wrong. Gabriel is a soldier, he is a fighter (just like his name) he is happy and playful. Gabriel is our rock! His laugh brings smiles to everyone. He talks a lot (much like everyone else in our family), he is aware of what makes him hurt and will some days avoid situations that would hurt. He used to sit down when other kids came his way to avoid being knocked won. However, other days he is unstoppable. He appears to have no fear. Yes, he does get hurt, but after we wrap him again and fix the boo boo he is off again. His strength amazes me everyday. He is a normal little boy who is growing up too fast.

Two years later, Gabriel runs, jumps, and laughs just like any other toddler. He and his sister and his cousin are always playing and getting into everything. Gabriel still blisters daily and the humid Alabama weather isn’t helping at all. He has his good days and he has his bad days. After two years of EB I have finally learned to cope with it. I’m not accepting EB. I refuse!! I will not accept defeat. I will not lay down and give p saying this is it. EB is our life! We will beat this we will find a cure!

Gwendolyn Eubanks

I am Gwendolyn Eubanks, mother to two amazing children. Maddison is the oldest and non-EB, and Gabriel, who has Epidermolysis Bullosa, Dominant Dystrophic. Gabriel is happy, strong and fearless. Through the bandages he still laughs and plays. Everyday with him is a new adventure. There are twists and turns and dramatic scenes. But at the end of each day my husband and I kiss our children good night and sing Twinkle Twinkle Little Star just like other families do. If EB has taught us anything, we have learned to enjoy every single moment with our kids.

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Childhood

By Emily Spurrier
From her Blog: Dys-Located

This is the third in a blog series on Epidermolysis Bullosa (EB) as part of EB Awareness Week (October 25-31).

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My mother turned 28 on October 25, 1974. On that same day, she received a phone call advising her that her one-week-old infant would only live for about two weeks. As a mother now, myself, I can only imagine how much her world sank around her. I had been diagnosed with Epidermolysis Bullosa Dystrophica at birth. The doctor that delivered me had seen one other case before in a set of twins. They died.

On November 12, 1974, I was released from the hospital. I was kept under sedation for much of that month to minimize my movements and thus, minimize the damage I did to myself. They took me home to die that day… Or I guess, to live.

I was kept under sedation at home as well. I could not wear clothing, as the elastic and lace would blister and peel off my delicate skin. Diapering was also done precariously. Cloth diapers were the protection of choice, but could only be laid under me and not wrapped around my legs and waist. My parents could not pick up and cuddle their newborn whenever I cried, as that would have done more physical harm than the hug would have done good. I couldn’t be held under my arms. I had to be carried carefully; one hand under my rump and the other under my head, with a barrier (ie a blanket or towel) between our skin. Even then, sometimes that wasn’t enough to prevent the inevitable damage.

August 1975

By the time I was six months old, I was able to wear diapers. Sedation was stopped since I wasn’t interacting or reaching the milestones I should have by now. Soft, loose-fitting clothing was special-made by my 85-year old great-grandmother.

Those two weeks went by. I turned one, then two, and three and four. By this time, my parents had been told that the risks were high of having another child with Recessive EB. They chose to not have any more children and took appropriate measures to ensure that.

My physical delays were becoming apparent. I could crawl, but wasn’t using the palms of my hands. My knees were bandaged constantly due to the damage crawling had caused. My ankles were becoming severely pronated, which resulted in me having to wear special orthotic shoes.

I remember my first steps. I was four. I couldn’t walk long distances, however, as simply walking from the living room to my bedroom would cause severe blistering. The orthotic shoes would also blister my ankles.

Treating EB was never easy. It was a nightly course of pain, migraines and pills. My sores had to be opened and all wounds had to have antibiotics applied to prevent infections. I was too young to do this myself, and so it was up to my parents to hold me down, kicking and screaming while the painful, often stinging, routine was drug out from head to toe. I had my birthdays and Christmases ‘off’. Summers were even worse as humidity worsens the symptoms. Lesions become larger and more rampant during summer months.

I was placed on dilantin, to again lower my metabolism and movements, hoping that this would lessen the rapidity of blistering. The already arduous routine was now accompanied by another hour of counting every bullous. I became inattentive and lethargic and my sore areas failed to decrease. The drug trial was a failure.

I started Kindergarten just before my fifth birthday. My teachers were taught how to carry me properly. Due to my small frame, I was still easily fitting into a small umbrella stroller. This was my mode of transportation.

Halfway through that year, in early 1980, we moved to Monroe, Louisiana. My mother briefly inquired about putting me into a small kindergarten, but they turned her down, saying that they could not accommodate my needs. I spent the remainder of the school year at home while my parents searched for a school that would best suit my needs. A smaller environment was decided to be best for me, where the teacher could give me the 1:1 attention I needed. And so, in September of 1980 I started my first grade year in a small parochial school. That same day, a wheelchair was delivered to the school for me to use.

I continued to use a wheelchair throughout my elementary years, while only being able to take a few steps at a time. I dealt with the teasing and discrimination that comes with that territory. I was called ‘retarded’, ‘leper’, ‘gross’, ‘ugly’, ‘stupid’.. you name it. People would pinch, hit, push or simply loathe me just to see what the poor disabled girl would do. Sometimes, it would land me in the nurse’s office. I would be teased, taunted or even ridiculed. I remember once, in fourth grade, even a teacher made fun of me. My mother had even once been accused of child abuse. I had friends though. I had plenty of them! Even today, I still communicate with and regularly see several of them. They unfortunately didn’t mask what was slowly causing self-consciousness.

Junior High was brutal. In a time where awkwardness is already looming, I had six previous years of taunting behind me. I faced those three years shell-shocked. I had become shy and started feeling that most kind gestures by others were simply acts of charity. Who would want to hang out with the grotesquely skinny girl in the wheelchair with difficult-to-explain bandages and sores? Who will want to date her when that time comes? While in eighth grade, I was kicked once, pushed several times and was relentlessly taunted by “Mike”. In the middle of my freshman year in High School, we moved to Minnesota. Like many teenagers with EB, I became depressed.

By High School, I was a wallflower. I had few friends and felt ‘categorized’ since some of my classes were slotted with others with physical and mental impairments. Much of the teasing had stopped by this time, thank goodness, but with the constant plague of staph infections and small breakouts, self-consciousness was still an issue. With the onset of puberty, however, I was able to walk more and blisters were less frequent. By my senior year of high school, I was leaving my wheelchair in the office in the mornings and spending my entire day on my feet at school.

Dating, however, was still out of the question. I was never asked to my Senior Prom, so I didn’t go. Even if I was asked, however, I would have probably felt shy and that it was a gesture of charity. I didn’t go to Homecoming dances or any formals throughout high school for the same reasons. By my senior year, however, I started opening up. Were people becoming more accepting or was I becoming more self-confident?

By this time, I was seventeen. Over the next few years, I discovered the internet, and began second guessing my initial diagnosis of Recessive Dystrophic Epidermolysis Bullosa and accompanying death sentence. Things were not adding up. I didn’t have the classic webbed fingers. Only one toe on my left foot was webbed to the ball of said foot. I had no esophageal closures. My teeth were perfect (no cavities!). I was improving with age instead of getting worse. My childhood friends and hospital roommates from childhood were all passing on. Ben was gone. Ray had died. Bobby had passed on as well. Most impactful was the loss of my personal hero, Eric, who lost his own battle with EB not long after I graduated from High School. Something was just not right. I was still here and they weren’t… (To be continued on another blog)

Recommended: Garrett: The Boy Beneath the Bandages Warning, EB is not a pretty disease. It’s not neatly packed into one nice box with a bow. It’s not a hidden disorder either. EB is blunt. It’s tactless and almost impossible to hide from others. EB can be disturbing to some. If you chose to watch the video (which I encourage you to do!) know in advance that the most severe forms of EB (as is depicted in the video) closely resembles a third-degree burn much of the time. Choose your surroundings when watching the video carefully.

Garrett Part 2
Garrett Part 3

More on Garrett

Emily was born in Southwestern Louisiana and has moved over 20 times in her life through nine different states. Most of her life was spent in the Twin Cities of Minnesota, where she met her husband and had her only child. Both she and her husband are also only children.

Emily was born with EBS-DM (EB Simplex, Downling Meara), and was in a wheelchair as a result until she was 18. She started improving at around 15, and this is why Kathryn is an only child.

She graduated from Stillwater (MN) High School in 1992 and from the University of Wisconsin in 1997 with a BS in Journalism. Three years later, she met her husband, George, and they married in 2002. Their daughter, Kathryn, was born early in 2004.

She relocated with her family back to Arkansas in 2005 after being away for 30 years. She currently works for the Arkansas Democrat Gazette as a Web Clerk and lives in North Little Rock.

When not taking care of her daughter, cooking, working, cleaning house, sewing, gardening, kn

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The Devastation that is EB

By Denise Ippolito Dandurand

As the mother of a child with EB, I can tell you first hand what this disease does to people.
My son, Hunter Dandurand, is 2 years old and has Recessive Dystrophic Epidermolysis Bullosa (RDEB). Being my first, and only child, I wasn’t sure how parenting was going to be, but I never imagined anything like this.
EB is a devastating medical disorder that affects everyone who comes in contact with it. Not because it is communicable, it’s not, because it is so graphic and painful most can’t bare to see it.  If you can find a doctor that is familiar with EB, which I assure you is no easy task, they will explain to you what EB is. They will further tell you that there is nothing they can do. The medical community does not have the answers; all they can tell you is that they are working on it.  Though there are many doctors researching this disease the cure is still years, maybe decades, away.  At current they can’t even offer a treatment to lesson the symptoms.
Every morning my son wakes up in tears. The pain he feels everyday of his life is more than most people will feel in a lifetime.  The blisters never stop coming, and the scars continue to thicken. Eventually the scar tissue will cause strictures and contractures, painfully immobilizing the victim until they are completely disabled. We battle infection and malnutrition everyday. There is a specific type of cancer that gets involved due to the continual breakdown of the skin that is very severe.  If you successfully fight all the infections and malnutrition, somewhere around the age of thirty is the average life expectancy of a RDEB victim. In the long run, RDEB is a terminal disease. They say when one is faced with a tragic disease that there are phases you go through. The first being denial, where you can’t accept that this is happening to you. The second being bargaining, where you bargain with God or Satan, or whoever will listen. The last being acceptance. For some acceptance will mean sitting back and letting it happen, for others it will mean fighting to the very end. I belong to the second group. I have put my faith back in God. I now thank him for every day and every smile I get from my son. I have also put my faith back in me. The first 25 years of my life were just preparation for this. There is no blame to be placed, only answers to be found. The cure is within our reach if we believe it to be.

Please help support the research of EB.
Visit our websites, read our literature, meet our precious children.
Tell everyone you know about it.
The more people that know, the more people will care, and the more people will help!
There is a direct link between the cure and public awareness. Help us spread the word.

Sincerely,
Denise Ippolito
Mom to Hunter Dandurand

My Child has EB

You begin to feel
Something less than real
When reality sinks in.
The doctors say
There is no way
To help him with his skin.
At first you cry
Demand to know “why”
Challenge all belief.
This cannot be
You cannot see
There must be some relief.
They aren’t even sure
If they’ll find the cure
Nobody seems to know
So there you sit
Saying “this can’t be it”
As your world spins out of control.
The pain he knows
As he starts to grow
Is more than a child should bear
He is strong and smart
And in his heart
He knows that Mommy’s there.
If this is a test
I will not rest
I will see it through somehow.
This disease
Will not beat me
To this I do a vow.

Denise Ippolito

The Biggest Influence in My Life

By Heather Wagner


Brittany is the girl farthest left in the picture and I am the
farthest right. The girl in the middle is our youngest sis Allison
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     The biggest influence in my life is my sister, Brittany. My sister is three years younger than me, but she teaches me more about life than I would ever be able to learn by myself. Too many people in today’s society develop the habit of judging others without ever fully knowing them. Brittany experiences this type of discrimination on a daily basis because she was born with a rare skin disease, called Dominant Dystrophic Epidermolysis Bullosa (DDEB); this causes her skin to blister at the joints due to friction from the lack of a protein between the epidermis and dermis layers of the skin. Because of Brittany and DDEB, I have become more accepting of the diversity around me, and I am more appreciative of what I have.

Brittany has taught me to be passionate about everything I do and to never give up. Not once have I faltered on this belief because I want to show Brittany just how much of an impact she has on my life. I want to show her that I would never give up on anything in life, including her.  I continually strive to exceed all expectations in order to show her that she must do the same to overcome the obstacles, including the discrimination from society, that lie before her.

In all honesty, it was not until my eighth grade year that I believed in God. Brittany had been diagnosed with melanoma in early fall. My reaction upon hearing this news was nothing short of shocked. However, having completed a research paper on this disease earlier, I knew of the possible results of this diagnosis; it was either life or death. Therefore, fearing the worst, I desperately attempted everything in my power to prevent any further problems for her. This included attending church every Sunday as well as youth group and bible study. I thought that through my faith and persistence I could save my sister. That upcoming summer, Brittany underwent surgery to take the cancerous skin off her body by the means of replacing it with a skin graft. As Brittany’s skin disease is rare, none of the doctors thought the graft would take, ultimately meaning they thought the skin would not adhere to the old, thus never scarring over. However, I believe my faith and persistence in God are reasons why the skin graft adhered to her other skin and she lived. She is the single most important aspect of my life, and if it were not for my faith in God’s love, who knows what would have happened.

In essence, knowing that I have someone looking over me like I do, Brittany has led me to become more self-confident in everything I do. Additionally, since Brittany has a short life expectancy, she has moved me to live life for every moment, for no one knows when life will end. Also, this experience has increased my drive and determination for what the future holds as well as my future goals. These goals include: attending medical school after Cleveland State University, finding a cure for DDEB, and raising a family of my own.

I treasure my education because it is the single most important factor into becoming a doctor and pursuing my life’s ambition. Ever since Brittany was born, I have been interested in finding a cure, and now that I have been given the opportunity, I want to take full advantage and obtain the best education possible. In essence, I have always believed that I could make all the pain, suffering, and discrimination my sister has suffered go away by finding a cure. It has become my life’s ambition to pursue my studies and find a cure for DDEB. I know that my future will consist of many long nights spent studying for an exam, practicing an oral presentation, or completing that day’s homework and reading.  However, I am prepared to complete any task ahead of me that is necessary to achieve my goals. I am also prepared to exceed all expectations in order to increase my understanding of this disease as well as everything it effects.

In conclusion, I love my sister for teaching me the right way to treat people and to approach life in general. Not once have I backed down from the goals I have set for myself academically as well as athletically.  Even through her darkest hours, Brittany taught me how to never give up, to desire even greater success, and to always do my best. She has proven to be my guiding light whenever I may question the work it will take to achieve my goals. In addition, Brittany helps me to be more accepting of those that may appear different than I as well as more appreciative of that which God has blessed me. It is also because of her that I chose to wholeheartedly believe in the Lord and to fully participate in Christian activities more frequently. Also, she is the reason I desire to obtain the best education I am able so that I can achieve my goal of becoming a doctor and finding a cure for DDEB. I have learned to never judge others nor take for granted the many blessings the Lord has given me. For if Brittany hadn’t been born with her skin condition, I would never have developed the open-minded and passionate personality that I feel will enable me to achieve all of my goals.

Heather Wagner
Age 18.

Jonathan’s Smile

By Brenda Gionfriddo

The day was May 11, 1999 I was excited yet scared for what was to come. I was scheduled to go into the Hospital at 7:00 p.m. to be induced. I was two weeks over due and ready. In only five short hours the said ” It’s a boy”. I was overjoyed; I already had a wonderful two and a half-year-old little girl and I hoped for a boy this time. Silence in the room and then whispers in the comer shattered my joy. I screamed out ‘~what’s wrong with my baby”. The doctors asked a few stupid questions and then I got to hold him briefly, he was beautiful I barely got to hold him at all when they took him away to the neonatal ICU.

A couple hours later they wheeled me down to see him. I didn’t see anything wrong with him; all I saw was a gorgeous baby boy which we named Jonathan. With still no information for my husband or me they brought me back to my room. A doctor came in shortly after that and explained that they believe what Jonathan had is a rare genetic skin disorder called Epidermolysis Bullosa (E.B. for short). The only thing to enter my mind at that moment was fear. Fear of losing him before I ever got a chance to know him. No one really answered any of our questions; instead they ask us if it would be okay to transfer him to another hospital that had more knowledge of this disorder. We agreed and I packed up my stuff hopped in my car and was admitted into the same hospital that he was so I could be with him.

After getting settled there a neonatal doctor entered my room with some answers for us. She said in a very blunt and to the point way” your son will have a really hard life, filled with pain and hardship due to this. He could blister by the slightest touch or trauma to his skin”. I thought to myself “Would I ever get to hold or touch my son, and if I can will I hurt him?”. I was then left alone while family went home. I must have cried for hours sitting by the incubator. I was not able to touch or hold him and tell him it would be all right. This all happened only 12 hours after his birth. I was tired and hurting, but was unable to rest. A specialist entered my room as I tried to relax a little: he told me that he would need to take a biopsy to confirm their suspicions. I then asked, can I ever hold him?”. To my relief he said, “Of course you can as soon as I finish”. I picked him up, looked straight into his eyes and he smiled. At that point my fear turned to joy and I knew no matter what we had to go through in his life we would be all right.

A baby’s smile can do wonders, but when Jonathan smiles even at times when he is in pain it gives my the strength and courage to face another day.

Life with Andy

By Mary Jo Burgy

December 30, 1993 was the day we had been longing for. This was to be the birthday of our twin boys. We were as excited as we were scared. I had the “perfect” pregnancy. I gave up all the bad stuff and ate all the good stuff. All the tests indicated that they were healthy and ready to meet the world. We filled the nursery with two of everything. We talked of little league, climbing trees, riding bikes, high school sports, and all the girls hearts they were going to break. We were ready for anything, or so we thought.

At 8:34 and 8:35 am two beautiful boys came out into the world filling the room with their loud, healthy cries. We had done it. Good health and care over the past nine months proved successful. Moments later we would discover that all was not right with the world. There was something wrong with Twin 1 (Andrew). His nail beds were purple, he was missing skin on one of his fingers and he had blisters on his lips. They tried to assure me that all was okay and they would have a dermatologist called in to check him over. They brought him to me and laid him on my chest. He looked healthy to me. He was crying and crying. I talked to him and he stopped crying, he knew who had him. During the next hour or two my husband, myself and my mom spent time checking Alex and Andy over. Passing them around, taking pictures and examining them to see what parts of them looked the same. When up in our room they took Andy away and said that he needed to be in the NICU and needed to be isolated.

Having just had a C-section I was heavily medicated and do not remember a lot about what happened next. My husband went with Andy and later I remember he said that things weren’t good and that the dermatologist was going to come to talk to us. I looked around the room and I saw my mother crying, now I was worried. The doctor told us that Andy had Epidermolysis Bullosa, a rare skin disorder. He stated another boy was born in the same hospital a few years ago and the family was on their way to the hospital to talk to us. Looking back on things now, I’m glad that I had medication go get me through this. I kept calling the NICU to get updates on Andy. I felt such a loss not being there for him and not being able to breast feed. I asked to go down there to do that for him, but they stated that he would not be able to due to blistering. I still did not have a firm grasp on what this disease was. I was finally able to go see him. There was my little boy in a glass box wrapped with gauze and boo-boos on him. When they handed him to be he was on a large piece of wool. I didn’t think that I would ever stop crying. How could this be happening? I did everything right. I immediately blamed myself. I’m the one who carried him the last nine months, I must have done something wrong.

Later they explained that it is genetic. It was nothing that I did. No one on either side of our families had anything like this. They explained that Andy’s body will be covered with blisters and missing skin. His hands and feet would web together. It would involve his esophagus and mouth. His nutrition would be compromised. This was all so overwhelming and frightening. Before we took Andy home we had to learn so much about him. We had to learn how to hold him, feed him, change him, what clothes he could and could not wear, etc. Most important, we had to learn how to take care of his skin. This meant learning how to wash him, pop his blisters, bandage him and protect him from infections. The hardest part was the day when I had to leave the hospital without one of my babies. I just wanted them to both be home with me. Many people say that they could never do what we do everyday. When you see your son needing help, attention and love, you would and could do anything for him. My husband and I were committed to making this work and to make our son better. We would soon find out that we could not make him better, but only care for him the best we could.

Finally with both the boys home we were ready to go on with the rest of our lives. We learned quickly how to bandage and were doing his dressings in record time. Mechanically things were going well, emotionally it was tough. We were basically alone other than visits here and there from family members that lived out of state. Having twins is difficult, but having one with difficulties almost seemed impossible. EB is a painful disease. Having to hear your child cry daily from dressing changes and baths, it breaks your heart and leaves you feeling helpless because you can’t do anything to take the pain away. There were many times after his birth that we wished his life would end. He could go to Heaven and be pain free. It was not fair for someone so small to have to endure this. There were many times when I would just break down. I would hold Andy and tell him over and over again how sorry I was. Through all this we still had to remember that we had another little boy who needed just as much love and attention. He had the instinct to be calm while Andy was being tended to and when that was done he would act up and we would care for his needs. There were many times when Alex would be calmly playing while we are tending to Andy and if we poked Andy with a needle Alex would cry out too.

Twins are amazing and wonderful. Andy is about to turn 6 as I write this. Life is easier and harder at the same time. He can tell us what hurts. He can tell us about his boo-boos and has taken on the responsibility to pop them on his own at times. He is more vocal about his disease. He will scream about how much he hates this disease.  He will cry and wonder why he can’t have skin like the rest of us. It seems is cries from pain are even louder now. I hear he and his brother planning quietly in their room about what fun things they will do when Andy gets a cure for his skin. I watch his brother run along with friends ahead of Andy and I comfort him when he cries because they left him behind. I see hear about his day in kindergarten. How excited he is everyday about what they do. Teachers tell me how hard he tries to not be different and how he fights being catered to. We find it amazing that gym is his favorite class. He is a survivor.

When you have a child with special needs you learn many things. Life is not to be taken for granted. Your life can change in an instant. We always thought we would have “perfect” kids. We took it for granted that we would. Why would anything go wrong, that happens to other people. You learn to appreciate many things. We appreciate the moments when Andy seems free and is running and jumping around. Most parents tell their kids to “stop jumping on the bed”, we join him. A smile, a kiss, and a warm hug mean so much more. When our boys want to play, this is what we try to do. The dishes, laundry and dirty floors can wait, our boys cannot. We appreciate many things that thankfully most parents do not. We enjoy days when Andy wakes up and isn’t stuck to his clothes or his bedding. A day without Andy crying in pain. Days without blood on his clothing and ours. We actually have become experts on getting blood and bacitracin stains out of clothing. When a bath is less than three hours long and his knees are the only thing we have to wrap are as close as we come to being “normal”. You just never know when life can turn. Today is a gift, that is why they call it “the present.” Many times I think he is stronger than his mom. Just when I think that I cannot handle one more cry, one more bandage, one more set of clothing filled with blood Andy offers me relief. After a painful episode he reaches for me, grabs my neck, looks at me like he is peering into my soul and without a word just hugs me as tight as can be as if silently saying, “It’s all right mom.”

True heroes are not in comic books or on the movie screen, but are actually real people right in front of you. He is our little “Hercules”. He is only 5 and he has been our teacher. He has an unrelenting spirit. He doesn’t let his limitations rule his life, he just tries his best everyday.

Andy became an angel on March 25, 2003.

Remembering Ryan

By Jen O’Neil

Ryan in his 6th grade picture

I got some good gossip the other day, and I got that excited feeling in the pit of my stomach and all I could thing of was…Oh man wait till Ryan hears this! Then it hit me, and the excited feeling in the pit of my stomach turned to lead. And I realized that this is what it’s like to lose your best friend. That is what Ryan was to me. Aside from being my boyfriend, he was the person I could talk to about anything and everything. We could read each other’s thoughts and sometimes finish each other’s sentences. We knew just what buttons to push on each other and yes; we could irritate each other like no one else could.

And man, could he make me laugh. There are really no words to describe the essence of Ryan, and what made him who he was. He was a combination of determination, wit, graciousness, courage, and creativity. He had the ability to touch every person he came into contact with.

His service reminded me of the movie “Mr. Holland’s Opus”. If you have never seen the movie, it follows a music teacher’s career over a span of 30 years. At the end he is forced into retirement and the school has a special ceremony for him. Hundreds of people showed up. Former students, friends, colleagues. As one speaker told him: Look around you. There is not a life in this room that you have not touched! I think Ryan would have been amazed at just how many people he affected.

I only knew Ryan for three years. I first met him just as his health began to decline. He could still walk when I met him. To define just how progressive and degenerative E.B can be, one need only to look at the picture collage in Ryan’s bedroom. Pictures of a chubby baby (chubby!) and a healthy looking 10 year old are mixed in with photographs of a frail looking soul sitting in his easy chair, covered in bandages from neck to toe. In many of the pictures the one feature that always stands out to me is his eyes. Ryan had beautiful, huge blue eyes that one could get lost in. The saying “The eyes are the windows to the soul” certainly rang true for him.

Photo: Ryan’s Formal pic ->

The first time I met him in person was back in 1997, on April Fools Day. He insisted that I play a joke on someone. “But I don’t know anyone here… who would I play a joke on?” We brainstormed and 30 minutes later I found myself phoning my mother back in Massachusetts to tell her that Ryan and I were getting married. We laughed like crazy as my mom stammered and stuttered threats over the phone before I told her it was a joke.

Aside from his family and friends, music was his great love. He loved to compose music, and when his hands no longer allowed him to play the piano, he became a collector of music. He owned over 500 CDs.

Ryan took piano lessons when he was young, but he never learned to read music very well. He had an ear for it and would play from memory. As he got older, his hands began to contract. As the fingers fused to the palm one by one, he compensated by playing with his knuckles. His piano teacher said that after Ryan’s lessons, the keys would always a little bloody. He would purposely schedule kids that he felt were becoming lazy about practicing right after Ryan, and he would wait until the next kid sat down to wipe the blood off the keys.

<- Photo: Ryan’s 8th Grade pic

Ryan taught so many people so many things. If nothing else, he taught me not to take the little things for granted. I find myself thanking God for things such as being able to walk up a flight of stairs or driving myself to the store. I also thank God everyday that I met Ryan. Of course I wish that we could have had more time together, but I feel blessed for the short time we did have. There was not a day that went by that Ryan didn’t tell me that he loved me, and he was so grateful for anything anybody did for him; be it giving him a gift or pouring him a glass of milk. Even though he was unable to do many things, especially these last two years, he loved life. He was able to find joy in simple things; things that most people including myself would probably not think twice about.

Last Halloween, as sick as he felt, he managed to do himself up from his collection of Halloween make-up kits, even though he knew his mom, dad and I would be the only ones there to admire his work. After laboring for 45 minutes the result was a realistic looking bullet hole in the center of his forehead, with fake blood dripping all over bandages that had just been changed hours before. Mom wasn’t too happy about that!

Just going to the mall with Ryan was a learning experience. Planning ahead of time, taking everything at a much slower pace. Learning to deal with rude stares and ignorant comments that people don’t think you can hear- and worse; the ones they know you CAN hear. Learning how to be aware of what is handicapped accessible and what is not. Learning how to maneuver his fart-cart through the narrow isles of K-B Toys was an experience in itself. Learning how to handle sales clerks who think that just because Ryan is physically handicapped, it must mean that he is mentally handicapped as well.

Photo: Ryan and Jen – Xmas 98 ->

On Veterans’ Day, Ryan’s feeding tube slipped out because the skin around it had broken down so much. He underwent surgery at Stanford Hospital to close the hole that his G tube had left and insert a J tube. The surgery went well, but things started to go downhill from there. He had a reaction to the nutritional supplement that they were feeding him through his J tube, which made him sick to his stomach. They flew him back here to Redding right before Thanksgiving, and he began having trouble breathing. Blisters had formed in his airway from being incubated during surgery. On November 27th, he stopped breathing and was resussitated and put on a ventilator. Since he was 22 and of legal age to decide for himself, he told us he wanted the tubes out. We made sure that he knew the consequences of his decision, and he still insisted that he wanted them out. 10 minutes later he stopped breathing; this time for good. He died just after midnight on November 28th.

It has been a little over a month now, and we are all trying to adjust to life without him. His room will remain the way it is. The only thing that was removed was his bed, and in its place stands a table with his picture on it, and two chairs. One of his easy chairs is still there, so that one may go in and watch his movies, listen to his favorite music, or play a video game, and just remember Ryan.

Ryan Grant McClennen was born March 3, 1977 and died November 28, 1999 at 22 years of age. He had the Recessive Dystrophic form of EB and died from many complications from the disorder, including blisters in the airway and infections. His parents and his girlfriend Jen miss him terribly.