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Saturday, December 12, 2015

Playing with Genetics


I can't believe it's been six weeks since I've written a blog post.  I guess time flies when you're busy enjoying a little one who is growing way to fast! My last blog post was about not letting the enemy (Satan) steal our happiness and love for our son away.  And I can say that these last six weeks have been so enjoyable making memories with our sweet Eli.  He amazes us every single day with how smart he is and how fast he learns to do new things or how much effort he puts into attempting new skills.  His smile lights up our home and his laughter is absolute music to our ears.  I can't believe he is already four month old.  And despite having EB....he is strong and healthy and growing like a weed!
 
Before I move on to what this post really is about, please enjoy these pictures of our precious boy taken over the past six weeks:
  







 

 
We have a pretty adorable kid, don't we?! I know I am biased but seriously.....those pretty eyes, and long eyelashes, and button nose, and chubby cheeks, and that SMILE! Eli has far exceeded our expectations and has made us so happy these last couple months.  Our biggest fear was that he would never be happy and would live a life of pain due to having EB-but he has kicked that fear right out the window. He always has a smile for us and rarely seems to be in pain except for the two hours we are doing his bandage change each day.
 
So now on to the topic at hand.  I started this post last week.  All I got done was the title. Over the course of our journey to become parents our attempts at creating a family have been centered around genetics.   We always thought MY genetics were the source of our problem. Well, not initially...but eventually we conceded to the idea that it must be my bad eggs and/or my other my ability to carry a baby due to my genetic disorder causing all of our loss and failures.  Long story short, we lost our daughter in 2008 to what we thought was a cord accident and have no genetic testing to confirm rather or not that was her actual cause of death or if she died due to a chromosome abnormality like we later found out caused at least two of our miscarriages in 2013 or even because of my undiagnosed genetic disorder than can cause blood clots and difficulty carrying a pregnancy to term.  After having our first miscarriage in 2013 even after taking blood thinners from the beginning, we discovered that I have a balanced translocation which means I have sticky chromosomes-two of my chromosomes stick together so when our baby was created he got an extra chromosome 21 causing him to have Down Syndrome.  Down Syndrome isn't fatal, I thought, because in my family there are several people with Down Syndrome and they are true blessings in our lives.  Despite the doctors assuring me that more Down Syndrome babies are miscarried or stillborn than born alive, I couldn't bring myself to going through with the $25,000 procedure the doctors told me would give us a healthy baby. It didn't seem right to me to pick out a baby based upon it having or not having Down Syndrome or even Trisomy 13 (which is possible with my specific translocation) even though Trisomy 13 would be fatal.  At least not until we had a second miscarriage that year and the genetic results came back that she also had Down Syndrome due to my translocated chromosome. After a total of 4 consecutive losses we decided that maybe the doctors were right, and with the financial assistance of Baby Quest Foundation, we took a gamble at IVF with pre-implantation genetic screening which we thought would be a sure fire way of bringing home a living baby considering my ovaries were plump full of eggs.  In our eyes-the odds had to be in our favor here.  But after a not-so-successful egg retrieval, which we blamed on being unmedicated (it was a painful and torturous procedure), our hope of having a baby with the combination of me and my husbands genetics slipped away very quickly.  Our embryos were extremely poor quality and either arrested or tested abnormally.  Our best growing embryo came back with an undetermined genetic result but still wasn't growing at the rate it should have been, but we took a leap of faith anyways and landed right back on our faces with a negative pregnancy test a week later. 
 
At this point we didn't know what our next step was going to be. Giving up on having a family wasn't an option.  Our house was under major remodeling (like down to the studs) and would never pass an adoption homestudy for several more years and we wanted a baby....not today, but two years ago.  So when my sister brought up egg donation to us it was a no brainer. That HAD to be our ticket to our healthy baby.  Let's just take my crappy eggs out of the picture and replace them with my sister's young (not that I'm old) and healthy eggs.  We confirmed she didn't have the balance translocation that has been floating around my family for I don't even know how many generations and got the go ahead from our new fertility doctor.  From the day of my sister's egg retrieval until the day of my embryo transfer, things were so much different than they were from our previous IVF cycle.  Our embryos were growing just as they should and we had two grade A hatching embryos to transfer and three more grade B non-hatching embryos to freeze. 
 
I found this picture online and it is a perfect example of how two people's DNA is woven together to create the DNA of a new person.  That's what we do every time we reproduce.  We are weaving our DNA with our partner's, or sometimes a donor's DNA, and we hope that together our DNA produces a healthy baby.  Once we received the news that our embryo transfer worked this time and that I was pregnant with our egg donor baby-we were hopeful again that this new combination of DNA was going to produce the healthy, living, breathing baby we've been waiting for.  And after numerous ultrasounds and non-stress tests throughout the next 8 months there really was no more doubt in our minds that our son was going to be born alive and healthy. 
 
But then he wasn't. And his diagnosis was Earth-shattering. We had never heard of it before, but when you google Epidermolysis Bullosa and you read the slogan "the worst disease you've never heard of" and you see pictures online of kids covered from head to toe in deep, bleeding wounds....panic and fear and intense anger set in very quickly.  It was worse than Down Syndrome.  So why would a child with EB survive 9 months of pregnancy but a child with Down Syndrome wouldn't?  I know what to expect with a child that has Down Syndrome....and I have no idea what to expect with a child that has EB.  We questioned how this could happen when my husband is healthy and my sister is healthy and her 5 year old daughter is healthy too.  There was only three explanations but only two that made any sense. Either my husband and sister are both carriers of the gene mutations that cause EB or something completely random happened in the mitosis process of Eli's DNA being created and he has a brand new gene mutation that has never been seen in either of our families. 
 
We were hoping for the second possibility because that A.) meant Eli's EB would be more mild and not as life threatening and B.) meant our other embryos were likely not affected by EB and there was still potential for Eli to have a sibling. But my gut told me we weren't going to be that lucky and my gut was right.  Eli has Recessive Dystrophic EB which means both my sister and my husband are carriers for mutations on their Collagen VII gene.  How do we continuously get so unlucky?  How many times can we be struck by lightening before we are burnt to a crisp?
 
I've tried really hard not to question rather or not we made the right decision to use my sister's eggs.  I don't want to have regrets in my life, and I sure as hell never want to regret having my son.  In the beginning it was hard-I can say I never regretted having him but I certainly questioned why things turned out the way they did.  But now....I can say I've never loved someone more and there is no one else who have ever brought me so much joy and meaning to my life. 
 
Even with all the joy that Eli has given me, I think it is natural for all of us to wonder if it would have made any difference if we would have done another IVF with PGS cycle using my own eggs at the new clinic we went to that does medicated retrievals. Would paying another $5,000 on top of the price we had to pay for our donor cycle had gotten us a healthy baby instead of a baby with EB?  And it's also natural for us to wonder about our future options for having a brother or sister for Eli. 
 
After completing genetic testing on my husband and myself, the answer is clear. It wouldn't have made a difference.  The testing confirmed that my husband does carry one of mutations that caused Eli's EB....and it also confirmed that I am a carrier of the other mutation (which would be the same one my sister has as well) that caused Eli's EB.  This puts so many things into prespective for us.  It may be the true answer to why our natural pregnancies ended in loss and why our IVF with PGS cycle was a bust, and certainly makes me glad that we didn't attempt a second IVF with PGS cycle using my own eggs.  The babies that we lost from our natural pregnancies were probably not just affected with Down Syndrome.  There is a strong likelihood they had Down Syndrome AND EB....and that combination was too much for our little ones to survive.  Even if we would have had "normal" embryos from our first IVF cycle-we only tested their chromosomes and that would not have told us if any of the embryos had EB.  So we still could have had a child with EB despite doing the genetic testing since we didn't know we needed to test for EB too. 
 
Finding out these results have given us some clarity on what our future options are.  It has eliminated the option of ever trying for another natural pregnancy.  It's also eliminated the option of trying another IVF with PGD cycle using my own eggs because the liklihood of getting any normal embryos between the translocated chromsome and the EB really is slim and it's just not a gamble we are willing to take for that kind of pricetag.  There are other options available.  And we definately have some time to think about what is right for us and want to see how Eli's skin does over the next two years at least before doing anything else.  But one thing is for sure-we never wanted an only child and we believe Eli deserves to grow up with a sibling.  The only scary thing is that when you play around with genetics (reproduction of any kind) nothing is as simple as it seems.  Hopefully one day there will be a cure for every awful genetic disorder out there so that reproduction doesn't have to be so scary. 
 
 

Thursday, October 29, 2015

The Enemy will NOT Win!

Have you ever wondered why the rain is constantly pouring down on you? Are you like me that when you hear people say this top statement you reply by rolling your eyes and thinking the bottom statement?
 

Have you questioned God's plan for your life and wondered why he continuously causes you to feel pain, anger, depression, anxiety, fear, jealousy, and resentment. Are you like me and question "what the hell did I do to deserve all this?" Or maybe you've questioned if there really is a God like I have.  And maybe, like me, you've looked around at everyone else's life and wondered how the hell did they get so lucky when you're life is one continuous heartache after another. Or maybe, like me, you've built friendships through the common struggles you've both faced and wondered why your friend was more deserving of a happy ending than you were.  And the more you think about these questions the more angry you become with God because he let you down...not just this one time, but every.single.time.

You know what friends....God doesn't put us through bad shit to test our strength or our faith. But Satan does. Satan doesn't care about our happiness like God does. Satan doesn't care about our relationships with others but God does. Satan doesn't care about our financial security but God wants us to be financially secure. Satan only cares about our relationship with God. He attacks us to make us feel like God doesn't love us or God doesn't even exist. He wants us to be angry at God. He wants us to curse at God-like he has led me to do so many times. Satan knows our weaknesses, but he also knows where we draw our strength from and he wants to destroy that-he wants our relationship with God to be non-existent.

 
 
I'm going to be honest. When people have told me that they know our son is going to be healed of his skin disease I rolled my eyes. Not because I don't want him to be healed. Because I'd do anything to take this awful disease from my son. But because there is no cure for it. And because it's not just a skin disease....it's a genetic disease. And I thought-God helped to create our son....he knew that our son was going to be born with this specific genetic make-up, why would he do that to him....to us? I honestly didn't have any faith that God could cure a genetic disease-this is DNA....it's not like an illness that spontaneously happened like cancer. And if God was going to heal or cure our son-why hasn't he already done it?!
 
But over the last couple of weeks I have come to understand why we have been going through the battles that we have. What better way for Satan to attack someone than to attack their child?!?! Attack me...that's fine....I can get through that much easier and much faster. But attack my child.....my heart is completely broken and I become angry with God and question his goodness.  Satan knows that...because he's done it not once, not even twice, but FIVE times now. And every time our baby died before even getting the chance to live....I screamed and yelled and raised my fists to God while Satan smiled because he won. But he only won for a short time before I started rebuilding my trust into God and believing in God's power to bless us and to provide the desires of our hearts. 
 
When I got pregnant with Eli my mind was filled was filled with anxiety from remembering past experiences of our daughter's stillbirth and of our miscarriages. Every month my anxiety decreased as God carried us through and protected Eli from things that could have gone wrong because of his umbilical cord not being attached to the placenta properly.  When we went to the hospital the day of my induction we praised God and thanked him for bringing us to that moment we had been longing for, and we thought he was finally rewarding us with our perfectly healthy baby that we never gave up hope for. But Satan didn't want us to believe that God created this miracle for us and answered our prayers. He wanted us to question rather or not we made the right decision by using my sister's eggs. He wanted us to feel as though God was punishing us for seeking an alternative way to build our family and makes us feel as though Eli was NOT God's plan for us. Satan wanted us to get angry with God again and curse him for giving us a son with Epidermolysis Bullosa (EB)-a fatal genetic skin disease. 

Our faith was shaken after Eli's birth. Sometimes we prayed for God to heal our son. Sometimes we thanked him for allowing Eli to even be born. Sometimes we felt God giving us the strength we needed to care for our fragile baby. But a lot of times we were angry with God. I had moments of screaming at God and telling him that I hated him. I had moments where I resented God for giving us a child that tested every aspect of our marriage and that could cause more heartache than we've ever felt by dying at a young age. We were going through a spiritual war and I didn't even realize it.  While God was trying to calm our fears Satan continuously attacked our son and instilled fear in us while sitting back laughing because he was winning.

I came to realize all of this while attending a woman's conference at my church a couple weekends ago.  The conference was titled "Become a Brave Warrior" and focused on being a warrior of faith and fighting off Satan when he attacks.  The testimonies that I heard during this conference spoke so much to me that I found myself doing things I would never do. During the worship portion of the conference spirit lead me to the alter where I collapsed to my knees and cried hysterically as I begged God to heal our son. A dear friend from college that invited me to this church over a year ago when we were gearing up for our egg donor cycle came over to me and held my hand as I cried.  She saw the sword that was leaning against the wooden cross in front of us and brought it to me.  She encouraged me to use the sword to fight the spirit of Satan that has been attacking not only my son since he was born but me and my husband for the last several years.  She put the sword in my hands and I turned into a warrior of God-I swung that sword around in front of me and over my head-I swung it everywhere that I felt a negative presence. I swung it over, and over, and over. And when I finally felt as though I had killed Satan's spirit over me-I used that sword to give Satan one final stab in the heart. I've never felt so powerful in my life. I've never felt so relieved and freed from the darkness in my life.

Since this conference two weeks ago I have felt more hopeful. I have felt less depressed and anxious about what the future could look like for our son.  I have had more faith in God to heal our son. I have felt strong enough and brave enough to command Satan away when I start to feel his presence-and I've never in my life have felt powerful enough to do this.

I am convinced that our son has a special gift and can see spirits that as adults we do not have the ability to see.  He is constantly looking past us and smiling as if there is an angel watching over him.  He has been getting through his dressing changes with no pain meds at all-not even Tylenol.  He often will cry and then all of the sudden he stops and starts smiling-that there my friends is Jesus laying his hands on Eli and telling him "be calm my child" and taking away his feelings of pain.  We have started using Holy Water that my husband's grandparents brought back from Lords, France, where miracles have taken place, on Eli's skin and praying over him for healing. His skin has started healing better than we have ever seen and we have been able to wrap less of his body. There are days like Monday where Satan still attacks him and causes a new area of skin to become wounded.  But we continue to put our faith into God for healing. Monday night I came home from work and used some Holy Water on some areas of Eli's skin and prayed over him for continuous healing. As I was praying Eli had the biggest smile on his face and then out of no where started screaming. I knew Satan was back and he was trying to attack us. I started commanding Satan to leave our home and told him he is NOT welcomed in our lives. Within seconds Eli stopped crying. He has been such a happy baby these last two weeks because we are happier parents. I know I've been a happier parent because I feel more capable of protecting my son from the enemy and more determined to win this spiritual war for my family. I've become more confident that God WILL heal Eli and won't allow the enemy to win by taking our son from us.

 
 
If you are going through a storm right now, take a step back and ask yourself-is this really God's plan for me or is this Satan's plan for me? They both have plans for our lives and you need to know whose plan you're working with. Do not let the Enemy win. And remember God is good all the time, and all the time God is good. He will give you the strength you need to get through if you learn to lean on him. 





Thursday, October 8, 2015

Rainbow Baby, Butterfly Boy

Eli is two months old today! My, how fast the time goes....


October is National Pregnancy and Infant Loss Awareness Month and the last week in October is also EB awareness week-so I thought I would talk about our Rainbow Baby, Butterfly Boy.  As most of you know our story, Eli was conceived through my sister's donor eggs after losing four previous pregnancies over the course of seven years including the stillbirth of our daughter Riley.  My pregnancy with Eli was the first successful pregnancy and the most rewarding 9 months of my entire life.  As each month passed we grew more confident that he was going to be our Rainbow Baby and that the storms of our lives would be over.  We checked into the hospital at 39 weeks, 1 day and thoughts we would be checking out with our perfect newborn baby boy a few days later.  It was the best day of our lives-we were about to become parents-real life parents-not just a mommy and daddy of angel babies-for the first time.....what could possibly be better?

But it hasn't been all rainbows and butterflies the past two months.  When Eli was born with Epidermolysis Bullosa (EB) our world was once again shattered. Our perfect Rainbow Baby was born with skin as fragile as the skin of a butterfly. You could only imagine the thoughts and emotions that we have experienced over the past two months as we have learned to adjust our expectations and accept Eli as our Butterfly Boy. 


How did this happen? That was the biggest question that we had.  We have never heard of this disease before. No one in either of our families have this disease. My sister and husband are both healthy people.  My sister has a healthy, beautiful five year old daughter.  Eli was perfect on every ultrasound and NST that I had throughout my pregnancy.  I was so diligent with making sure all of my medical issues were under control so that they didn't affect him while he was growing in me.  Surely God would not have allowed us to conceive a child through my sister's eggs if my husband and sister are both carriers if he would not have allowed us to carry a child with Down Syndrome conceived through my own eggs. And Surely God would not have created a spontaneous mutation in Eli's genes causing him to be the first one to have this disease.  But there was only one way Eli could have gotten EB and it was one or the other.

A week ago we found out that Eli has Recessive Dystrophic EB.  He has two different mutations in his Collagen 7-one from my sister and one from my husband-causing him to have a reduction or lack of protein which binds together his bottom layer of skin to his middle layer of skin.  Recessive Dystrophic Epidermoylisis Bullosa (RDEB) is the second most severe form of EB.  This form of EB not only affects the skin on the outside of Eli's body, but also affects the mucus membranes of the esophagus and digestive tract. 

Here are a few websites to better explain RDEB:

http://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa

http://www.sohanaresearchfund.org/about-eb/what-is-eb/

http://www.debra.org/dystrophic

So how is Eli affected by EB? He was born with missing skin on half of the bottoms of both feet and the entire tops of both feet along with both big toes.  When he was being cleaned in the operation room after my c-section, the nurse wiped the skin off of his right hand.  Due to suctioning Eli's mouth, he immediately got blisters on his tongue and gums.  His mouth blisters initially caused him problems with eating but now he does not seem to be bothered too much by them. They come and go fairly quickly and always pop on their own.  He has to use a special bottle called the Haberman where we can control the flow of his milk so he does not have to suck as hard.  We also always put a layer of vaseline on the bottle nipples to create an extra barrier and less friction when he is sucking. Every couple of days Eli will get blood blisters that just pop up on his lips and a day or two later they pop themselves and he will have several days where his lips look great. 

While in the NICU for three weeks, Eli's little body would spontaneously develop blisters on the sides of his chest. Since he has been home, his chest and back areas are especially sensitive to clothing. There were days the first week he was home that we would find huge blisters on his back, sides of his belly, and armpits from the friction created from his clothing, the seams of the clothing, or picking him up by the chest area. These areas are all healing but are definitely showing signs of scarring.  If we think for one second that it would be okay not to wrap his armpits and torso we are sadly very mistaken and find several new, smaller blisters not even an hour after the dressing change.

 

 
Eli has not started to show any signs of joint contractures yet-he constantly kicks his legs and throws his arms around when he is crying. But due to his constant movement, his poor little thighs are ALWAYS blistered up and red from old blisters or skin tears which are trying to heal. In the hospital his elbows developed blisters but I haven't seen any since he has come home.  We have to stick with Pampers Sensitive Swaddler's diapers and Pampers Sensitive wipes for our little guy.  This does necessarily prevent the blisters from occurring in the creases of his thighs or groin area but he does better with the sensitive products than regular products or the cloth diapers we have tried.  Especially wipes-I foolishly used Huggies wipes for one day after running out of Pamper's Sensitive Wipes and caused Eli's bottom to get several painful blisters as a result.  His bottom blisters are healed but scarred.  Recently Eli has had three small blisters on his scrotum-we are thinking it is time to bump him up to size 2 diapers since the size 1's are starting to fit more snugly and rubbing his skin. 

We have been experimenting with several different ways to wrap Eli's feet and hands.  We've tried the way the hospital taught us-some days we saw improvements and other days the products we were using seemed to be more damaging to his skin.  We then tried the way another EB mom told us she wrapped her son's feet and saw some significant progress.  We even made our own concoction cream which seemed to be working.  But the product we used to cover his feet left big pimply looking marks all over his feet.  So then we started trying some products we were sent by an EB organization in a care package and have starting seeing even more improvements with the color of his skin looking less purple and the texture of his skin less pimply.  However, one thing that we have noticed is that we can never get too excited about the progress we are seeing because the moment we do, the next day everything has gone to hell in a hand basket.  His feet get mostly blood blisters on them from the pressure of holding him too tightly or from him kicking while screaming his lungs out.  At the end of last week his feet were looking rough-but they made some really great progress in just a few days with the new products we are using. His right foot especially was looking amazingly better than it ever had been.  But during our dressing change today I did not have his foot dressing completely secured before starting to wrap his calf area because I was going to secure the foot with the gauze I was using on the calf.  The nurse was holding onto the foot though while I was trying to get under the leg and his dressing started slipping off of him.  It ended up falling completely off before I got done wrapping the calf and when the nurse was holding Eli's ankle so I could finish wrapping the calf, I looked over at his foot and watched a huge blood blister form up the side of the ankle and foot and over top of the foot. It was devastating to me as his mother to see his "good" foot turn into one giant, painful blood blister. The nurse felt horrible too and Eli screamed bloody murder until we were completely done covering his foot back up.  This is how fragile Eli's skin is-it is never fully healed and in an instant everything can go to shit. Eli's toes often develop blood blisters between the big toe and index toe (is it called the index toe like the index finger??).  Since putting strips of Mepilex Transfer (just a wound care product name) in between the toes that has been a lot less dead skin which means less messing between the toes which means less trauma to the toes which means less blisters between the toes! His big toes are hideous and the one on his right foot is fusing to the bottom of his foot-the more I try to clip the skin the more trauma and blisters that I cause. Toenail wise-I know his big toes have no nails and some of the others only have the nail stub while some of the others have some fugly nails...yes, fugly. I know-I just said my child has fugly toenails. I promise-I still love him regardless of this! Now the hands-they are just like the feet. Some days they look amazing. Other days, they look like someone beat our child with a club. His right hand is definitely scarred where the skin was rubbed off at birth and his left wrist is scarred from where a nurse put a pulse ox directly on his skin in the hospital-that's a big no, no.  We put strips of Mepilex transfer between his fingers to keep them separated but this hasn't helped with the dead skin issues like it has the toes. His fingers, like his feet, blister so easily from the slighted touch. I feel horrible that my child can't have his hands unwrapped so he can start to play with toys and he has never been able to hold onto my finger for longer than a few seconds a day while we are unwrapping and rewrapping.  One of the things I looked forward to the most was having my son's little fingers wrapped around mine....and we don't get to experience that....and now I'm crying thinking about how unfair EB really is! I absolutely hate EB. I worry all the time that Eli won't get to be the rough and tough boy that little boys are meant to be.  When we wrap up his hands, to make myself feel better I guess, I always tell Eli we are putting his boxing glove on him since his hands get wrapped up into a fist.  We have had to put rolled gauze in his hand and in between his thumb and index finger because he does try to keep his thumb tucked in and his thumb was fusing to his hand.  Fingernail wise-he got a blood blister under one of his middle fingers almost 2 weeks ago and the nail still is barely hanging on.  Whatever nails he loses he will not grow back. 



September 16th

October 3rd

 
We are fortunate right now that Eli's face heals really quickly with just a little bit of cream to any scrap that he gets.  Most of his scraps are from him jerking our hands around and our nails grazing his skin or from throwing his head around when he is down right ticked off.  He has the sweetest, cutest, chubbiest face ever.  I fall more and more in love with him every day that I get to look at him!






The future is really unknown for Eli.  Some EB kids learn to walk and other's never can walk because their feet and legs do not heal enough to put pressure on their feet.  Even though Eli doesn't have trouble eating right now, it doesn't mean that he won't have problems once he starts eating solid foods.  Most EB kids end up with g-tubes for feeding or have multiple dilitations of their esophagus to stretch it out so it doesn't close and cause them to choke when eating.  Eli seems to have a "big mouth" right now-when he screams it's a full open mouth torturing scream-so I don't know if he will look like most EB kids with small mouths that can't open very wide and crooked teeth from the blisters on their gums. Sometimes EB takes kids in childhood, sometimes in early adulthood, and sometimes they live a normal lifespan.  It's the scariest thing to think about losing another child-and especially a child I carried a full 9 months, gave birth to, and have fallen completely in love with.  I honestly don't think I could handle losing Eli at a young age.  Someone would have to put me in a straight-jacket. I say that as I am sitting at work-and I am a crisis worker in a hospital who assesses and admits people to our psychiatric unit!

Dealing with EB is very difficult.  I wrote in my last blog about my breakdown that I had the first week Eli was home-when I was screaming at God for giving me an imperfect child.  Eli's skin got so much worse the first week he was home that I literally wanted to crawl into a hole and scream and cry and curse the world.  But we have come to see Eli as our son with EB instead of just seeing him as his disease.  We love cuddling with him. The best feeling in the entire world is seeing him smile. It is a good reinforcer that we are not horrible parents that cause our son pain every day and that he is a happy baby.  I can't wait to hear him laugh out loud for the first time-he is starting to make some funny sounds and I know the laughing is just around the corner.  As much as EB scares the living daylights out of us-we won't let this disease steal our happiness or our son's happiness.  We won't allow this disease to prevent Eli from being the best he can be, learning how to do things that other babies and kids can do, or being involved in any activity that he wants to be involved in as he gets older.  He will learn what his limits are and will figure out how much pain he is willing to endure to do the things he wants to do as he gets older.  I am 100% positive that he will be the toughest kid on the playground one day. And I am 100% positive that this boy will have a profound impact on our community and people who follow our story from around the world.  He is not only OUR Rainbow Baby, Butterfly Boy-he is all of ours!



Friday, September 25, 2015

Adjusting to Parenthood....with an Extra Secial Child

Becoming parents was our dream.  Our dream was achieved.  But let me tell you.....this isn't the dream we were dreaming of. This is hard work....not that we didn't think becoming parents wouldn't be hard work.  It would be hard even if our child was perfectly healthy.  Babies demand a lot of attention, and sleepless nights, and head-scratching while trying to figure out how to get them to eat, sleep, and poop comfortably. But a healthy baby wouldn't require a daily bath and 2-3 hour dressing changes. And a healthy baby wouldn't get blisters from their adorable outfits, that their mommy saw in the store while she was pregnant and couldn't resist buying, rubbing against their skin. And a healthy baby wouldn't require their diapers to be aquaphored to prevent blistering in the diaper area but still get them anyways.  A healthy baby would have their tiny precious feet exposed during these hot summer days instead of wrapped up with gooey creams and ugly gauze and cushiony padding.  A healthy baby can eat from a normal Dr. Brown's or Advent or Evenflo nipples and wouldn't get blisters and bleeding inside their mouth, on their tongue and gums, and on their lips.  A healthy baby's skin doesn't tear from a simple scratch.  A healthy baby doesn't get a daily dose of Oxycodone. Our child has extra special needs, and it has been a rough and tough adjustment to accepting his lack of normalcy.



When Eli was born he didn't get to spend his first night with me and my husband since he went straight to the NICU. At the hospital he was delivered at they do rooming in with the parents and only have a separate area for the baby if they need extra special care. This delayed our adjustment to parenthood-we didn't have to get up in the middle of the night to feed and change our son because the nurses in the NICU took care of that for us.  And since I was in pain from having a c-section, I didn't even try to sleep on the uncomfortable chair in Eli's room so that I could care for him in the middle of the night.  But once I was feeling less pain and was able to get around without a wheel chair, I attempted to spend some time with Eli in his room during the night hours.  I felt like a helpless mother that night as I watched our son cry out in hunger but was in pain from trying to drink from a bottle.  The next day Eli was transferred to Cincinnati Children's Hospital for a g-tube consult.

The first night Eli was at Children's Hospital he stayed there alone.  It was hard to leave our son in a new place by himself but at the same time I knew if I was going to be staying in the hospital alone with him over the next week or longer that A.) I needed to get some clean clothes and B.) I needed one night alone with my husband in our own bed.  Once I returned to be with Eli the next morning my motherly instincts kicked in high gear.   I wanted to do everything by myself-except his dressing changes....that's impossible to do alone.  The first night I spent sleeping in the same room as Eli I got up with him every 2 hours to feed him and change him, plus I pumped between every feeding. So really, I didn't sleep at all.  I refused help from the nurse that night, other than getting my breast milk out of the refrigerator to warm up for his feedings. I told her that I wanted to do it all since I wouldn't have help from nurses when we got home.  I was utterly exhausted the next day....to the point that I was falling asleep holding Eli's hand as he got his PICC line placed in the operating room.  I had to be wheeled back to the NICU because I couldn't stay awake enough to walk back,,,plus my legs and feet had swelled up so much from having a c-section several days prior.  From that day forward I learned to accept help from the nurses, especially in the middle of the night.  I started taking turns doing Eli's feedings with the nurses which made things easier on me during the day when there were constant doctors and medical professionals coming in to discuss Eli's care plan with me.

My husband didn't get to spend the night with me and Eli until Eli was a week old.  I had been getting up to feed and change Eli and to pump for three nights so I was excited about my husband coming to stay with us for the extra help.  Instead of being eager to help me take care of our son, my husband was annoyed with the screaming wake up call every 2-3 hours and constant poopy diapers that we changed.  There was a clear difference in our parental instincts....I jumped up at the sound of our son crying and my husband rolled over and tried to sleep through it.  Needless to say we had a frank discussion the next time my husband stayed with us several days later about what it means to be a parent and how I need him to help during the night hours since I'm all alone, with the exception of the nurses who won't be going home with us, the rest of the week when he can't stay with us because of his work schedule.  That night went much better and my husband proved to me that he can step up to the plate when he needs to be there for me and Eli.  He said he needed time to adjust to his new responsibilities....which I can semi understand since he didn't grow up taking care of kids like I did after becoming an aunt at 10 years old.  But at the same time....I was pregnant for 9 months! What did he think being a parent was about?


 The longer Eli was in the NICU the more help I started to accept from the nurses.  If it was time for Eli to eat but I needed to get my own lunch, I no longer skipped lunch and let the nurse feed him instead.  If his diaper needed changed but I needed to pump-the nurse got to change his diaper.  I started to realize I was no good to our son by not taking care of myself.  Once I started taking care of my own needs, I felt better and had more energy to invest into Eli and was less angry that I was the one constantly in the hospital taking care of our son while my husband got to work and enjoy sleeping in our own bed with no interruptions and watch whatever he wanted to on tv and go to our friend's wedding (he was also in the wedding) and have time to himself.

When it was time to take Eli home I was so happy and thought we would all transition well into our own routine.  We took him home on a Friday and the weekend went really well.  He slept good in the rock-and-play we had for him in substitute of a crib or bassinet. My husband was helpful on Friday and Saturday night with getting up with me to change him and feed him.  But then Sunday came and my husband had to be at work Monday morning.  I attempted to do it all by myself...all night long....all week long...and to top it off Eli wouldn't sleep anywhere besides in my arms which meant we slept on the couch together so my husband could get his restful sleep in the bed.  I became physically and emotionally exhausted.  I became resentful of my husband again for not offering to help me at night and then for working on house projects after work every day instead of giving me a break to do something I wanted to do for myself.....even if that meant cleaning the toilet in the bathroom.  I just wanted a break from our child.  And I didn't think I should have to spell that out to my husband so I never said a word to him and let my emotions bottle up.  I was involved in every dressing change that was done-with the home health nurse three days a week and with my husband the other four day a week.  I cried every day while washing bottles multiples times a day.  I wanted to clean my house or take Eli for a walk but could never find the time to do either. I was 4 weeks in to my 6 week maternity leave and felt completely angry that it was nothing like I thought it was going to be.  I thought it was going to be full of cuddles and relaxation and family walks and visits from family and friends and catching up on all my favorite tv shows.  It was none of that,  Instead it was waking up three or four times a night to feed and change our son, and then feeding him five more times throughout the day, changing diapers every 1-3 hours, trying to find 30 minutes to shower and pull my hair into a pony tail, 2-3 hours of preparing for and doing daily dressing changes, watching new blisters form on our son's naked body everyday or getting yelled at for putting clothes on Eli and finding new blisters when we took them off, washing bottles 2-3 times a day, and having my breasts connected to the pump 4-5 times a day. To be honest.....I didn't like being a parent the first week we were home.  I wanted my old life back.  I wanted my freedom and my sanity and my bed back.

By the end of Eli's first week home I had finally snapped.  My husband thought I was completely insane by my hysterical crying, and yelling and screaming.  I had finally admitted to him and myself that I hated my life,...I was completely miserable.  I was screaming out loud to God for giving us a imperfect child after all the hell we've already faced throughout the last seven years between losing four babies and spending 50+ thousand trying to have a healthy child.  My husband and I argued about how to dress Eli and the right or wrong way to change his wound dressings.  I finally admitted to him that I was angry that he got to sleep through the night and then never even offered to take care of Eli after work to give me the slighted break from him.  Instead of validating me or trying to come up with a solution on how to make this parenting thing work for the both of us to keep us both sane, he took Eli from me making me feel like a horrible mother and told me I would be the cause of our divorce.  And a little over an hour later when he couldn't get Eli to sleep he brought him back to me on the couch because he needed to get some sleep before his 4 hour Saturday shift at work.

The next day my husband came home from work and hugged me while I was crying over a sink full of dirty bottles that needed to be washed.  He told me we needed to figure out how to make this work for us and that I needed to communicate with him more about when I need time for myself because he's not a mind reader.  I explained to him that I didn't feel I should have to ask him to feed or change our son or should have to tell him I'm exhausted and need "me" time because that should all be common sense.  No woman loves taking care of her child 24/7.



Since that day we've gotten our night time routine down.  I take the first half of the time because even when I'm exhausted I can't shut my brain off until sometime between 1-3am.  My husband on the other hand can't stay awake past 11pm and is a bear if he falls asleep and is woken up 30 minutes later.  If he can get a couple hours of solid sleep then he is good to go with cat napping the rest of the night.  Whereas after 3am I will lose my ever loving mind if I don't get some restful sleep.  We take turns sleeping on the couch since Eli still won't sleep in his rock-and-play longer than 20-30 minutes at a time.  On the couch he will usually sleep for 2 hours straight before waking up to be changed and fed again.  It sucks that we haven't slept in bed together more than five times in the past 6.5 weeks....but this is our new life.  Eli is in charge now.  And it works for us for the time being.




Now that we have our night routine down I feel less depressed and angry.  I still have my bad days where I feel like I get nothing accomplished that I want to get done and get upset with my husband when he tells me he has things to do in the evenings.  One day I would love for him to take care of Eli in the evening instead of staining bedroom doors so that I could clean the bathroom or go grocery shopping.  I've only gotten one morning and afternoon away from the house without Eli and that was to go to church and to Wal-Mart after church.  Any other time that I leave the house Eli comes with me....which has been good for me too though.  We aren't sheltering ourselves anymore.  I've taken him to the mall and to church and to visit my parents and sister's and we've taken several walks finally.  It's starting to feel like he really is a normal baby who just requires these daily dressing changes instead of feeling like the dressing changes and Eli's skin disease are controlling everything that we do.

As far as the dressing changes go, right now we have a nurse coming to help me three days a week and me and my husband do it together the other four.  We are learning new ways to wrap Eli's body parts every week and trying our best to figure out what works for him.  The dressing changes can become emotionally intense when me and my husband do them together but we are improving on that as well.  The more we see Eli's skin healing, the better we get along during the dressing changes because they are easier to do and we feel like we are doing our job as his parents at healing our son.  Knock on wood.....we haven't seen any large blisters form for almost 2 weeks now and with the new concoction cream my husband created with aquaphor, A&D ointment, and Neosporin, Eli's feet which have been the hardest to heal are making some good improvements.



Eli is now almost 7 weeks old.  He has been home for almost a month and every day does get a little easier.  Some days are still rough days, but we are adjusting to this new normal.  I will be going back to work full time on October 5th so that will be a whole new adjustment for all of us.  Eli will be spending most of his day with a nurse and then my husband.  I will have  to learn to be more structured with my day to be able to get Eli's dressing changes done in the mornings and get myself ready for work on time.  I'm sure exhausted won't even describe how I will feel the first month being back at work.  My 8.5 hour work day is extended to 11 hours with drive time.  My husband will have to adjust to taking care of Eli on his own in the evenings and my guess is he will learn quickly that our son doesn't give you much time to do things you want to do around the house.  Hopefully it won't be too terrible of a transition for us but I know it won't be easy.


My next blog will be about Eli's medical diagnosis once we get his genetic testing back and learn about why type of EB he has.  Hopefully we will know within the next week or two.  Please keep praying that Eli has a mild form of EB and pray that God finds a way to heal our son completely of this disease.



Monday, September 7, 2015

Our NICU Experience

When my genetic doctor recommended an induction at 36 weeks due to the increased risk of post-partum strokes in patients with Homocystinuria, my OB and high risk OB immediately said they would not induce me until at least 37 weeks. Why? Because of the risk of having a baby in the NICU before being considered full term. After experiencing the amount of loss that we have, and after hearing so many stories of things that can go wrong even at 40 weeks....we knew there was always a chance that our baby could end up in the NICU regardless of how close we made it to that 40 week mark.  But did we really think that going into the hospital for my induction at 39 weeks 1 day that our baby wouldn't be coming home with us? Not at all.  We thought we had finally succeeded in our goal of having a healthy, full term, take home baby.  After all, our son was perfectly healthy on every weekly NST and ultrasound that we had during the 7 weeks prior to my induction.

When Eli was born the doctors and nursing staff in the operating room noticed immediately that he did not have any skin on his feet.  While cleaning him up the skin rubbed right off of his right hand.  At that point they stopped cleaning him and determined he needed to go to the NICU to be examined further. While I was being sewed up I told my husband to follow Eli to the NICU....I didn't want him to be alone.  I was only able to get a quick look at our son before he was whisked away from me. At that time I had no clue how serious his skin issue was.  I thought he was being taken just for an examination and that night or the next day he would get to join me and my husband in our mother-baby room like he was supposed to,

After getting out of recovery I was able to be wheeled to the NICU where I was able to hold Eli only because they wanted us to attempt breast feeding. Eli wasn't interested in latching.  He thought my breasts were good pillows, not good nutrition sources. Before being wheeled away from our son to my own room, the neonatologist came by to tell me and my husband that he suspected Eli has a rare skin disease called Epidermylosis Bullosa and had to be started right away on IV nutrition through an umbilical IV which they were going to start that night.  I had no idea what this disease was or how long our NICU stay would be because of it.  At that point I was still under the delusion that this was all just a temporary issue and he would get to go home with us when I was discharged.

The next morning my husband got up and immediately went to the NICU to be with Eli while I ordered my breakfast and took the time to shower.  When he came back from his visit with our son he was crying and I couldn't understand why he was so upset. I was just glad our son was alive.  This Epidermylosis Bullosa business couldn't be bad enough to not be thankful that my body grew our son from a clump of cells into a beautiful, full term baby boy.  I kept telling my husband that we had so much to be thankful for and that everything was going to be okay.  But he had researched EB and I had not.  He read how horrible this disease is and I had not.  He saw pictures of kids and adults with this disease and I had not.  I was still in la-la land and he was not.  And that's how it stayed for the next 48 hours.  The first two full days Eli was in the NICU my husband and I would take turns spending time with him, each of us spending several hours at a time in Eli's room.  When I spent my time with Eli all I would do was hold him and love on him.  When my husband spent his time with Eli all he would do is stare at him and feared touching him due to everything he had read about EB kids having fragile skin.  Every time my husband would return to my room he was sit and cry and I was the calming voice of reason for him.


On the third day of Eli's NICU stay I finally convinced my husband to go home for the morning and afternoon to get away from the hospital. He also needed to shower.  He hadn't showered in four days.  I spent that morning with Eli. I finally started feeling the heaviness that my husband had been feeling. It had been three days since Eli was born and nothing that I imagined would have happened in that time frame was happening. He hadn't been able to have his newborn pictures taken because he was hooked up to an IV in his belly button.  He wasn't able to breast feed because he couldn't latch and I had yet to even produce anything to give him.  I wasn't able to bottle feed him because the nurses were worried that the bottle would cause him too much pain. I started feeling frustrated with the care he was getting at Kettering because it seemed like every day there was some new theory about how to feed him,,,,one day the nurse was okay with bottle feeding, the next day I felt pressured to breast feed even though neither of us could do it. One night Eli took the bottle great for me so the next day I thought I would be able to try the bottle a couple more times but was told that day that I couldn't because I would just be causing our son pain by feeding him.  I wasn't able to hold his hand or touch his little toes because they were always wrapped in gauze.  I wasn't allowed to put blankets on him because the nurses said it would cause too much friction on his skin or would over heat him.  He had yet to get a bath or wear any clothes.  When I returned to my room that day to eat lunch and get a shower the emotion hit me like a ton of bricks.  I cried hysterically as the hot water poured over me.  I felt like I was failing our son.  I felt angry that he was unable to be treated like any other full term newborn baby.  I felt confused about what was right and what was wrong for him.  I felt pressured from the nurses that I had to start producing breast milk or they wouldn't attempt to feed our son at all.  When I got out of the shower I stood in front of the mirror and leaned over the sink and begged to God to help us through this. I cried and pleaded to understand why this would happen to us after all we had already been through. As I stood in front of the mirror I felt the loneliest that I had felt in a very long time.

When my husband returned to the hospital that evening we were able to meet a nurse and her son who both have Dominant Simplex EB...a more mild version of the disease.  Talking with them provided my husband with hope for our son.  But for me, it made Eli's disease more of a reality.  Both the nurse and her son looked completely normal.  They had no scars on them from their skin blistering or peeling off. But hearing that our son would most likely not crawl and walk in the normal time frame was very hard for me to hear.  As a mother it was like ripping apart my dreams and goals for our child.  My husband on the other hand was focused on the long term abilities such as having a successful career and marriage which both the nurse and her son were able to achieve and this made him feel better about Eli's future.

The next day I was officially discharged from the hospital.  We were grateful that the hospital allowed us to stay in our same room as a guest that night since Eli was still being treated in the NICU.  We would have been able to stay there as a guest as long as Eli stayed in the NICU and as long as they didn't need our room for another family who had just given birth.  However, that night while I was visiting with Eli after delivering the breast milk that I had finally started producing, I realized that he was not getting the best care that he could be getting.  The nurse was frustrated that his dressings kept falling off of him and that she couldn't keep his pulse ox on him since his skin was so slippery from aquaphor.  Eli hadn't been fed in over 12 hours because the day shift nurse said it was too painful for him to eat.  After returning to our room that night I sat up for the next two hours bawling about what to do for Eli.  I didn't want him to stay in a hospital where they didn't know how to care for him but I also didn't want him to be transferred to another hospital further away from where we live with no family around to stay with while he was there. My hysteria woke my husband up and he sat and held me as I cried about my concerns and fears.  It didn't help my emotions that earlier in the night I had gotten on our Ipad and saw all the links my husband had opened about EB and saw a blog about a baby boy who died at 3 months old due to having EB.  The overwhelming fear of losing another baby was too much for me to handle coupled with the worry about what we would do if Eli was transferred to another hospital.

When the doctor came in that next morning we didn't have a chance to discuss our thoughts on transferring Eli to Cincinnati Children's Hospital because we were told that there was nothing more he could do for our son and we needed to go where the specialist were.  We agreed. It was time to seek out the professionals who are among the world's leaders for treating this disease.  That day we worked with the social worker to get on the waiting list at the Ronald McDonald House since Eli was going to be in a pod with other babies instead of in his own room, but at the last minute before leaving the hospital we got a phone call stating Children's was able to get Eli his own room so I could stay in the room with him.  One of our prayers had been answered and it was one less burden we had to worry about.

Eli and I lived at Cincinnati Children's Hospital from August 12th to August 28th. He was initially sent there with the assumption that he needed a g-tube since he was not eating.  On the first day that Eli was at Children's, we worked with the speech and occupational therapists who got him a Haberman bottle to try out.  The Haberman bottle is used for kids with cleft palates but due to the softer nipple it works well with EB kids because it creates less friction and blistering in their mouths.  Eli immediately began sucking down milk when we started using this bottle.  He was eating 1-1.5 ounces every 2-3 hours.  He did so amazing his first two days at Children's that I thought we would get to go home at the end of the weekend. There was no need for a g-tube when he was eating so well. Unfortunately, things didn't go the way I had hoped.

On Eli's second day at Children's Hospital he got a PICC line to replace his umblical IV since he was still getting IV nutrition in addition to what he was taking in orally.  Within 24 hours of getting his PICC line Eli spiked a fever and stopped eating as well as he had been.  He had contracted a bacteria infection in his blood stream and in his PICC line.  He was started on IV antibiotics and we were told he would be on them anywhere from 5-14 days.  Over the next couple of days every morning Eli had to get his blood drawn for cultures to see if there was any more bacteria growth.  The doctors informed me that he would most likely be on antibiotics for 14 days AFTER his first negative blood culture due to the type of bacteria that he was on.  I was devastated.  There was a possibility that we would still be in the hospital when Eli turned 1 month old and I would have to return to work shortly after getting home with him.  Fortunately Eli only had bacteria in his blood cultures the first two days they were taken!



We were at Children's Hospital much longer that I had anticipated and certainly much longer that I had wanted.  But while we were there we learned a lot and became more comfortable advocating for our son.  We got to meet Dr. Lucky who is a world-renowned dermatologist who treats EB patients and learned how to do Eli's dressing changes with confidence.  Dr. Lucky made us feel like there was nothing that we could do wrong with Eli despite what the research states is best for kids with EB.  She encouraged us to try normal clothing and blankets and diapers and wipes.  We experimented with different size diapers, elastic out and in of the diapers, aquaphor on the whole diaper or just parts of the diaper.  Everything was trial and error but we were never made to feel as though what we were doing was wrong.  Once Eli got his PICC line in we were able to bathe him for the first time....he was a week old when he got his first sponge bath.  A few days later he was able to get in a bath tub and loved being in the warm water.  We weren't able to put any clothes on him until his last night in the hospital after his PICC line came out but that day was the happiest day for me since he was born. My only complaint of our entire stay at Children's was how long it took for a doctor to finally discontinue his order to have a pulse ox on him at all times.  The pulse ox was the biggest pain ever-it would hardly ever stay on him longer than 30 minutes before falling off and if they did find a spot it would stay on they had to move it a few hours later and could never find a new spot for it.  The nurses were constantly in the room messing around with the pulse ox and irritating both me and Eli as a result.  But the worst part was when Eli's skin was damaged by a nurse putting the pulse ox directly on his skin.  One area was so bad it was gushing blood and the nurse practitioner thought we would have to call in plastic surgery to cauterize Eli's vein to get the bleeding to stop.  Thankfully we figured out a way to wrap his arm to get the bleeding to stop and skin to heal on it's own.

While we were living in the NICU I had days where emotionally I felt strong and confident in my ability to be this precious little boy's mother and other days where I felt exhausted, scared, and angry. I only slept at home three nights in three weeks.  I hated leaving our son in the hospital alone.  It felt like we were abandoning him.  The day we got to bring Eli home was such a happy day for me.  Since we've been home it has been challenging both emotionally and physically.  Alex and I have struggled to figure out a way to keep us both sane and not exhausted.  I've had days where I cry all day long because I haven't been able to do things with our child that I thought I would be able to do during my maternity leave.  Our days are consumed with feedings, diaper changes, and 2-3 hours of bath time and dressing changes.  It seems like Eli's skin has gotten worse since we have gotten home and simple things like running out of Pamper's wipes and using Huggies has caused major issues that is taking days to heal.



We continue to request prayers for Eli and our family.  We have not received the results of his genetic testing yet to know which type of EB that Eli has.  Our prayer is that his is a mild form of EB and that he will not have life long effects from this terrible disease.  We are incredibly blessed with the amount of support we have received from the financial donations, care packages with food and medical supplies, meal deliveries, and help with cleaning our house.  Alex and I often question God's plan since it seems as though we can't catch a break anywhere.  But at the same time, God lead me to start writing my blog almost two years ago and it has created the largest and most incredible support system for us.  God is providing us with what we need to care for Eli.  He chose us to be this little boy's parents.  He has given us another challenge and although at times I've cursed God for not giving us the healthy baby we expected which has caused many emotional breakdowns on each other, I know this will eventually strengthen us even more.