Lindsay

26 Apr Lindsay

A different kind of Infertility

When you think of someone being “infertile” most people automatically assume it means the couple cannot become pregnancy because of dysfunctional reproductive organs. That’s not always the situation. Many times infertility comes in the form of recurrent pregnancy loss which leads to expensive testing to discover the root cause of those losses and procedures to prevent a future loss.

My husband and I have been together since 2006. Getting pregnancy was the easy part for me. In 2007 I found myself unexpectedly pregnant during my senior year of college. It wasn’t what I had planned for my life but eventually I learned to love the little baby growing inside of me and adjusted my plans to include her in our future. Losing Riley Grace was the most emotionally traumatizing experience of my life. Delivering a lifeless baby who was so active just days before made me question everything in life. Burying our daughter felt like the most cruel joke God could have played on us. And my only answer at that time was her umbilical cord, her very own lifeline, stole her life by choking her in my womb. March 1, 2008 is a day that I will never forget, though with time my heart has learned to heal.

One and a half years later, I was once again unexpectedly pregnant. It was a short lived pregnancy but I will never forget holding the tiny lima bean sized baby with budding arms and legs in my palm as a grieved in my church’s bathroom after the miscarriage occurred. At that time my only answer was “these things just happen and it’s usually a way of your body taking care of something being genetically wrong with the baby.”

In 2012 I was diagnosed with a rare genetic disorder, homocystinura, after the lenses in both of my eyes detached. It was a condition I was born with but was not detected on my newborn screening. Instead over the course of 25 years my body lived with a disorder where protein is essentially toxic and breaks down ligaments throughout my body. I learned pregnancy loss is a common feature of this disorder in adulthood due to blood clots. After coming to terms that my daughters cord choked her causing her death, I learned there may have been a blood clot in the cord which deprived her from receiving the nutrients she needed to continue developing. I was told with any future pregnancy I would need to be on a blood thinning injection in addition to taking medication to reduce my homocysteine level and eating a low protein diet.

After my husband and I married in July 2012 we knew we wanted to immediately start trying to have a family. We wanted four children and wanted them two years apart. In November we were excitedly pregnant and followed all of the high risk recommendations. We had ultrasounds every two weeks and heard our baby’s heart beat at 7 weeks. But when we went in for our fourth ultrasound at 11 weeks, our baby was lifeless on the screen. I felt so angry and confused. I wanted a d&c and I wanted genetic testing on the baby. I questioned Gods intentions again but this time I believe he had prewarned me what was going to happen. Earlier in my pregnancy, around 6 weeks, I had a dream that I miscarried a boy with Down syndrome. I was in shock when the genetic results returned that I indeed miscarried a boy with Down syndrome. The genetic results were the most revealing part of our recurrent pregnancy loss/infertility journey. It told us our child had an extra 21 chromosome that was attached to his #13 chromosome. It’s rare, but I knew immediately this issues was a result of my own chromosomes because of the numerous family members I have with Down syndrome.

A balanced translocated chromosome means I have all of my genetic material, nothing extra or missing, but I only have 55 chromosomes instead of 56 because two of my chromosomes are fused together. I have a 1 in 4 chance of conceiving a child with Down syndrome, a 1 in 4 chance of conceiving a child with Trisomy 13, a 1 in 4 chance of passing on the translocation to a carrier child, and a 1 in 4 chance of conceiving a child who would be completely unaffected by the chromosome defect.

Doctors recommended IVF with pre-implantation genetic screening, a $25,000 procedure. It was the only way to prevent having a child with a condition that could result in miscarriage, stillbirth, or infant death. My heart couldn’t handle another loss,but I was torn with feeling as if we were “playing God” and choosing a baby based on being genetically perfect and that felt selfish too. In the process of deciding which “heart” to follow, I research infertility grants to see if we could get any financial assistance if we did decide to go the IVF route. I found an organization called Baby Quest Foundation and submitted an application, knowing if we did not get approved our decision was made for us to try one more time on our own. We were not selected, though we were encouraged to apply again next grant cycle because we were one of the finalist.Several months later we were pregnant again, but this time the sac was smaller than it should have been and there was no visible fetal pole on the early ultrasound. After numerous additional ultrasounds, we were given the news that we had what is called a blighted ovum. My egg fertilized but the baby stopped growing shortly after that. I agreed to take a round of pills to help my body expelled the empty sac and collect any tissue I could so doctors could do genetic testing again. The pain was horrific, both physically and emotionally as I went through three rounds of pills, three weeks of passing clotted tissue, and eventually ended up in another d&c. Genetics confirmed this time we were briefly pregnant with a girl who had Down syndrome.

After 4 consecutive losses, I was done with the hope that we would miraculously have a child on our own. I reapplies to Baby Quest Foundation and this time we were blessed with a grant that covered all of our IVF medications and a small portion of the procedures.

After all we had been through so far in life, I felt God did have a purpose for our pain. I started a local pregnancy and infant loss support group connecting fellow loss moms to each other and started a blog about our fertility journey to bring awareness to the emotional, physical, and financial weight that recurrent loss and infertility causes to woman and their partners.

In February 2014 we started our first IVF cycle. My blog was being read by woman all over the world and I was shocked at the support we received from people we knew along with complete strangers.

My blog was a way for me to express all the up and down emotions I felt after losing four babies and riding the infertility rollercoaster. You go into IVF with the highest of hopes you will come out with a baby. But that was not the case for us. After a very painful unmedicated egg retrieval we only started out with half the eggs we were hoping for (my ovaries were stimulated enough to retrieve 24 eggs and we got 12). Each day after fertilization our clinic called to give us news that our “numbers” were dwindling. By the day of our pre-implantation genetic testing we had 4 viable embryos to test. We did not know the genetic status of those embryos until we went in for our embryo transfer two days later, finding out 3/4 had confirmed genetic defects that would lead to pregnancy loss. The one who didn’t-well that one had no genetic information confirmed at all so once again we took a giant leap of faith, transferred the one embryo that may or may not give us a baby, and a little over a week later had a negative pregnancy test.

My hope was feeling lost. But I was not ready to give up on my dream of being a momma. My husband and I talked about our options, the financial cost of each one of them, and processed our emotions about the possibility of never having a biological child. It was only a few days later that my sister called me and told me how she hated seeing our struggle and wanted to do something to help us have a child. We discussed egg donation vs surrogacy and ultimately we all decided egg donation made the most sense after we sought out testing from a reproductive immunologist in New York to ensure that it was not my body that was the ultimate problem, but my genetics. My sister had a beautiful daughter who acted so much like me that this was the closest thing we could do to have a piece of my genetics in our children.

The road to egg donation was not easy for my sister. She had so many voices influencing her thoughts about the process, including my own. What I pictured for our future children wasn’t what she pictured. I wanted there to be open discussions about how they were conceived, how my sister gave us such a wonderful gift, but she just wanted to be known as the aunt and nothing more. With caution she proceeded with her egg retrieval as I prepped my body for the embryo transfer. In November 2014 we transferred 2 beautiful hatching embryos and were blessed with the most perfect, healthy pregnancy, despite half way through being told we had a high chance of stillbirth due to the placenta having a velementous cord insertion (the cord was attached in the wrong place which could reduce blood flow and nutrients to the baby).

On August 7th, 2015 my husband and I checked into the hospital to be induced. We had never been so happy and so excited in our life. Labor with our son was long, I was not progressing and he was not engaging, and ultimately I ended up in a c-section. The anticipation to hear our son’s first cry felt so sobering. And it was the sweetest cry I had ever heard.

But immediately after he was born doctors noticed the missing skin on Eli’s feet, and skin began shearing off his hand when nurses began cleaning him. I was only able to see him from a distance before he was taken to the NICU. Thankfully the Neonatologist worked with Cincinnati Children’s and had a strong inclination that our son had Epidermolysis Bullosa so he was able to get proper medical care immediately unlike many babies born with this rare condition.
What is Epidermolysis Bullosa (EB) you may ask? It’s a genetic condition affecting numerous body organs but primarily the skin as a result of a missing protein. In Eli’s form of EB, recessive dystrophic, both genetic “parents” are carriers of one gene defect and each passed their defective genes to the child causing a complete lack of ability to product type VII Collagen. This protein is needed to “glue” layers of skin together including all mucosa tissues which involves the eyes, mouth, heart, and entire digestive system. Without the glue any minor trauma like falling, rubbing, or even grazing of the skin or mucosa tissue can cause the layers of skin to separate and either shear apart or fill with fluid or blood between the layers causing blisters that must be lanced with a needle or the blister will grow larger. We had never heard of this disease before our son was born with it. We had no idea my husband or my sister were carriers before we conceived our son, and we had no idea his skin was missing on his feet until he was born. These are all things that could have only been detected with genetic testing if we had known of any prior family history of the condition but there was none. It was emotionally difficult for my sister that we did not end up with our happily ever after ending that she was trying to give us but after three years of being our son’s auntie she now can see the absolute miracle that he is and adores him to pieces.

After Eli was born I requested to be tested to determine if I was a carrier for EB also, and I am. This likely was an added factor to our miscarriages that we never knew was a factor. Not only could our offspring be affected by my chromosome abnormality, they could also be affected by my husband and I’s carrier status for EB causing a very lethal combination of conditions. Our remaining embryos from our egg donor cycle also each had a 25% chance of having EB so ultimately we have decided not to proceed with any future embryo transfers due to the risk of having another child with the very progressive life limiting and painful condition that currently has no cure and limited treatment options.

Having a second child is something my husband and I continue to have conversations about. We weigh to pros and cons of our son being the only child with how our careers and home life may be able to handle a second child. We have discussed other options of growing our family such as embryo adoption vs domestic adoption. We often feel like our family is still not complete but are focused very much on the wellbeing of our son before we would ever expand our family and limit the attention we could provide to Eli. All I can say right now is the story is to be continued, with God’s timing and blessings.

To all the mommas who struggle with pregnancy loss-I know your heart aches for those little babies you will never get to hold on this earth. And to all the woman who struggle with infertility, I know your heart aches to just see those two pink lines and to feel those baby kicks inside of you and hear those first screams coming out of your womb before holding your precious baby in your arms for the first time. And to all the mommas who pour every once of themselves into their child with a lethal medical condition, I know you are terrified of the day you will no longer get to be the selfless and loving caregiver that you are. Do not give up mommas. Because no matter the outcome, you have so much love to give and the love you will receive in return from your children will be beyond your dreams.