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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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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