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).
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
“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??
“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?”
“February 14, 2004″
“How far along are you?”
“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”
“Um, yes.. i know”
“Well, then what is the purpose?”
“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.