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.