This post is to raise awareness for Trisomy Awareness Moth and to advance understanding of Trisomy Conditions.
Before I Found Out I Have Balanced Robertsonian Translocation.
My second miscarriage happened on a Sunday morning, the day after my best friend's baby shower. I was reminiscing about how much fun I had the night before and how I finally escaped the pain of infertility. Then, everything changed. My joyful anticipation turned into cries of unimaginable grief.
Instead of going to church that Sunday morning, my husband took me to the emergency room. I just knew my baby was gone. I just knew it wasn't a coincidence. I just knew there was something wrong with my body.
My miscarriage nightmare started in the privacy of my home with my husband and continued through my eight-week appointment with my doctor. I choose to keep my prenatal assessment to conduct a Q&A with my OBGYN. I needed answers.
"Are two miscarriages common in women my age?"
So, it is difficult to answer that question. Two percent of women experience two losses in a row, and only one percent have three losses in a row. Every couple's experience is unique. But you still have a good chance of having a successful pregnancy in the future. Most women go on to have a healthy pregnancy.
"Are there things I am eating, or drinking, that could have caused this to happen?"
I want you to understand this isn't your fault. You didn't do anything to cause this. There is nothing you ate or drank that made this happen. There could be links between extreme drug or alcohol abuse and possible loss, but that is not your situation.
"We are desperate for answers. What can we do now?"
It is typical for our clinic to wait until the third pregnancy loss before we get concerned. The definition of repeat pregnancy loss (RPL) is three consecutive pregnancy losses before 20 weeks. Some women have two pregnancy losses then go on to have a perfectly healthy baby. But I know you and your husband are very concerned. So I ordered some tests.
"Thank you. What kind of test?"
We will be checking for high levels of antiphospholipid antibody and lupus anticoagulant, Prothrombin Time, gene mutations, protein deficiency, karyotyping, and others.
"My husband and I have no known health issues. I think that is why I'm so scared."
Mrs. McCombs. I wish I could tell you more. I wish I could sit here and say it will be okay. There are many couples in your situation. Please be prepared that 70% of couples don't find out what is wrong or why they can't get pregnant even after getting tests done. But I hope we find some answers for you very soon. How about I schedule a Hysterosalpingography (HSG) imaging for you? The HSG will let us know if there are problems with the fallopian tubes or if you have an abnormally shaped uterus.
"Please."
I recommend we start with the blood work and HSG. If we don't find anything from these tests, we will move on to more tests and request blood work from your husband. I'll help you schedule the HSG.
When I Found Out I Have Balanced Robertsonian Translocation.
The following week I went to the hospital for the HSG imaging. When they found nothing from the test, they moved on to blood work. During the wait, I was sitting alone in my apartment, still emotionally recovering from my second miscarriage. My mind was wandering dark hallways.
Why would God allow this to happen to me? To my baby?
One miscarriage is back luck, right? But two? I'm part of the 2% now.
I can't wait around to have another miscarriage. I can't be part of the 1%; I just can't.
Then the phone rang. It was my doctor. I'll never forget what she said, "I think we may have found an answer for your miscarriages." I was so excited to have answers but terrified to hear what she was about to say. I listened closely, hoping for the best and bracing for the worst. My doctor said I have a chromosome abnormality. I asked her to spell it out so I could write it down.
"Balanced what? Robber or Roberts? Okay. Yes. Okay. Balanced Robertsonian Translocation?"
My doctor added I was a high-risk pregnancy, and she would no longer assist me with my reproduction. She set up a meeting with a genetics counselor and recommended a doctor at Walter Reed National Military Medical Center. I knew I would never see her again. I cried, and I thanked her for all her help.
As an analyst at the National Institutes of Health, I knew exactly where to go for more answers. I opened my computer and headed straight for the NIH website, the leading biomedical research institute in the world, and found the National Institute of Child Health and Human Development (NICHD). I wanted to prepare for my conversation with the genetics counselor.
What is Robertsonian Translocation?
Five years after that life-changing conversation, I can confidently say I understand my chromosome abnormality. I've had multiple meetings with genetics counselors. I’ve got binders full of resources collected over time. Robertsonian Translocation is a complicated topic, and it isn't easy to explain in a blog post. I've written this overview for anyone who needs to understand what Robertsonian Translocation is at a basic level.
This post isn't supposed to scare anyone. Instead, it's to inform family and friends of the unique and varying challenges, and decisions couples with this abnormality must make. It's emotionally exhausting. It is full of statistics and science. It is a calculated approach that forces you and your partner to consider moral implications and make difficult decisions.
It's a chromosome abnormality.
A translocation when someone has 45 chromosomes instead of 46 or when someone has 47 instead of 46. The average person has 23 perfectly paired chromosomes. Chromosome one pairs nicely with the other chromosome one. Chromosome two pairs nicely with the other chromosome two. This goes on until all 23 chromosomes have a perfect pair, totaling 46 (23x2=46).
That is the easy part. The hard part is explaining how someone ends up with 45 or 47 chromosomes instead of 46.
It can be balanced or unbalanced.
Before I explain why some people have 45 chromosomes, let's identify the difference between balanced and unbalanced. Both balanced and unbalanced translocations are an unusual rearrangement of chromosomes, but the effects are much different.
A balanced translocation carrier has a normal phenotype. What does that mean? First, it means there is no lost or gained genetic information; it's just moved. Many people who have Balanced Robertsonian Translocation don't even know they have it. There are no symptoms or health-related issues that would cause concern. Unless, of course, they start having a lot of miscarriages.
An unbalanced translocation is when there is important information missing or extra information that isn't needed. The most well-known example is downs syndrome.
So what happens when you have a baby with chromosome deletion or additions? There are three outcomes to a pregnancy when this occurs:
A spontaneous abortion during pregnancy I hate the term spontaneous abortion. It’s one of many bad terms floating around the infertility world… I prefer early-term pregnancy loss!
A stillbirth later in pregnancy
A delivered baby with a syndrome I explain Trisomy later in the article
Down's syndrome Trisomy 21
Edward's syndrome Trisomy 18
Patau syndrome Trisomy 13
If you have balanced translocation, your acrocentric chromosomes played musical chairs.
So how does someone end up with 45 Chromosomes? One chromosome decides to play musical chairs and attaches to another chromosome. A chromosome has a short arm and a long arm. A great example is when two long arms fuse together, and the short arms are lost. Keep in mind; this can only occur in specific chromosome pairings; 13, 14, 15, 21, and 22. Acrocentric Chromosomes are the only chromosomes that can get "stuck" together.
For me, my body played musical chairs with the 13th and 14th chromosomes. The long arm of my 13 and 14 chromosomes fused together, and none of my genetic information was lost. The Acrocentric Chromosome pairing is the most common, and 1 in every 1,000 people have it. Some pairings are as rare as 1 in every 200,000.
Yes, there are risks to trying naturally for a baby.
I know why you're reading this article. You want to see if it's possible to make a healthy baby. The answer is yes! But before I share more about my story and our two beautiful children, let's talk about the risk.
Trisomy is a condition when you have a third or extra chromosome. Remember, a balanced translocation plays musical chairs and removes a "short arm" chair. No genetic information is missing. An unbalanced translocation has missing or extra information, and someone has pulled away a chair with genetic information or added a chair with genetic information. Trisomy is the extra information. A person with Trisomy has 47 chromosomes, not 46.
Down's syndrome
For example, if you have a balanced translocation with an extra copy of chromosome 21, you are at high risk for a baby with translocation down's syndrome. The image on the left, created by MassGeneral for Children, shows an extra chromosome 21 attached to a chromosome 14.
Edward's syndrome
There are three main types of Edward's syndrome. Full trisomy 18, partial trisomy 18, and mosaic. The Trisomy 18 Foundation says, "Unlike Down syndrome, which also is caused by an extra chromosome, the developmental issues caused by Trisomy 18 are associated with more medical complications that are more potentially life-threatening in the early months and years of life."
If you have a balanced translocation with chromosome 18, you are at high risk for miscarriage or delivering a baby with Edward's syndrome. The image below, created by The Chromosome 18, is an example of three copies of a chromosome 18.
Patau syndrome
I'm at risk of having a baby with Patau syndrome because the long arm of my chromosome 13 and my chromosome 14 are fused together. Patau Syndrome is also known as Trisomy 13.
Pregnancy Risk and Outcomes
There are four outcomes for a Robertsonian Translocation carrier who gets pregnant. I am sharing the outcomes that are specific to the 13;14 long arm fusion.
You and your partner have a perfectly healthy baby Translocation is not passed to your offspring
You and your partner have a perfectly healthy baby that is now a carrier of the Balanced Robertsonian Translocation your offspring inherit balanced Reciprocal Translocation
You and your partner suffer a miscarriage an unbalanced additional 14 chromosome
You and your partner suffer a miscarriage, stillbirth, or live birth with defects an unbalanced additional 13 chromosome
Yes, you might have multiple miscarriages. But you might not.
A person with a translocation has an increased risk of their offspring having extra genetic information or missing genetic information. A pregnancy can recognize when there is a problem like additional genetic information. If the pregnancy recognizes the problem, it will lead to a miscarriage. If a pregnancy doesn't recognize the problem, it could lead to the birth of a child with a genetic disorder. Patau syndrome, compared to down syndrome, is one of the most severe syndromes. Life expectancy is usually only a few minutes, hours, or days. Less than 10% of babies born with this condition live past one year old.
When my genetic counselor told me this, I cried.
People with my chromosome abnormality have a 24% - 32% chance of a miscarriage.
When my genetic counselor told me this, I cried again.
Then I went home and read an article from the US National Library of Medicine.
Pregnancy Outcome in Carriers of Robertsonian Translocations:
"We conclude that pregnancies of Robertsonian translocation carriers are at increased risk for chromosomal imbalance, and prenatal chromosomal testing should be discussed. More than half of the pregnancies led to the birth of a healthy child, but prediction of which couples will be successful in obtaining a pregnancy with or without assisted reproductive technologies and/or embryo selection remains difficult."
When I asked God to help me trust Him with my family and future, I cried. But my tears were different.
In-Vitro Fertilization
My doctor first asked me if I was comfortable with prenatal diagnostic testing since my genetic conditions were enough to warrant the consideration of terminating a future pregnancy. While I was open to the testing, termination was not an acceptable option for my husband or me. We asked if other helpful options were available that better aligned with our beliefs.
My doctor then encouraged me to register for In-Vitro Fertilization services. At first, I was skeptical of this recommendation. I assumed IVF was for women who had a hard time getting pregnant, not for women who couldn't stay pregnant.
My husband and I attended In-Vitro Fertilization classes to learn more about the practice, the cost, and the risk. After a few sessions, we decided that In-Vitro Fertilization with pre-implantation genetic screening was a valid option. While we didn't need help fertilizing our eggs and growing a baby, we struggled to make a baby without genetic defects (which is why my body kept having miscarriages). Since spots in the program were limited and the next round of IVF treatments was six months away, we registered to start treatments that July.
Pre-Implantation Genetic Screening
I learned that pre-implantation genetic screening helps identify eggs that have genetic effects within the embryo. Genetic screening allows doctors to place eggs without genetic effects back into the uterus. Studies have shown some parents who have a chromosome rearrangement never achieve a viable pregnancy without this testing.
Here was the schedule laid out for us that July:
Ovulation induction
Egg retrieval
Insemination of sperm
Embryo biopsy
Embryo testing
Embryo transfer
Fingers crossed!
Finding Faith in the Unknown
That June, I was so afraid.
I was afraid of having a third miscarriage.
I was afraid my body couldn't carry a baby full-term.
I was afraid of passing down my genetic disorder to my future children.
I was afraid the past was an indication of my future.
I was afraid because we were moving in six months.
I was afraid because my husband was going to deploy for a year after that.
I was afraid because there was a 12-month waitlist for IVF at our next military duty station.
I was afraid because it was our last chance to have a baby for a very, very, long time.
My husband and I decided to try naturally that June. I didn't want to be held captive by the laundry list of my past experiences. I recognized my thoughts for the sins they were (Matthew 8:26), which freed me to trust God (Philippians 128:1) and listen for his still small voice (Jeremiah 33:3).
My life was changed forever when I chose to act in faith before I felt like being faithful.
By no means am I saying IVF is a faithless or bad choice. I'm saying that I knew IVF wasn't what God was asking me to do. I just knew deep in my heart He was asking me to trust Him by letting go of control. IVF was my new idol, my contemporary comfort, and a process that gave me the false sense of power I was struggling to surrender. I had to let go of all my fears, and I could only do that by trusting God to help us conceive naturally one more time. I had to exercise faith, and in my heart, I knew I wasn't ready for IVF.
You can read more about our 4th of July miracle and what happened next in Outpour Magazine.
Encouragement for Women with Chromosomal Translocation
It's okay to cry. It's okay to be scared. It's okay not to be okay.
After multiple appointments and countless hours of research, I felt lost. I had so many questions. The future was so unclear, and I had no control over any of it. My husband and I had a lot of difficult questions to answer that June.
Should we continue to try and have a baby naturally?
Are there support groups available if we get pregnant with a Trisomy baby?
Should we look into other options, like IVF Pre-Implantation Genetic Diagnosis?
I know you are faced with impossible decisions because Adam and I met them too. I'm here to remind you when all seems hopeless, to pray. Listen for God's still small voice.
What is God showing you through this challenging time?
The road ahead has lots of options, and it's easy to be confused. What do you do when the world throws statistics at you and you're scared and don’t know what to do? Slow your heart, take a deep breath, and open your ears. God loves you and He understands better than anyone your desire to be a mother.
Looking back, I am so thankful my miscarriage didn't start at my friends' baby shower. It took years for me to realize my situation could have been worse. I also understand now that my body wasn't letting me down; it was doing its best to produce a viable pregnancy in a broken and fallen world.
It truly is a miracle when a baby forms in a mother's womb. We don't tell a heart to start beating; it just beats. We don't tell life to enter a body; it just does.
"I praise you because I am fearfully and wonderfully made; your works are wonderful, I know that full well. My frame was not hidden from you when I was made in the secret place, when I was woven together in the depths of the earth. Your eyes saw my unformed body; all the days ordained for me were written in your book before one of them came to be. How precious to me are your thoughts, God! How vast is the sum of them! Were I to count them, they would outnumber the grains of sand—when I awake, I am still with you." - Psalm 139:14-19
My Two Healthy Children
These are pictures of my two beautiful babies. One girl. One boy. We conceived them naturally without any fertility treatments or help from our doctors to get pregnant. I went from back-to-back losses to back-to-back children.
I understand having two healthy babies naturally, and back-to-back is a miracle. But trying naturally was the choice my husband and I wanted to make. It fit the unique situation we were in, and we were comfortable with that decision. Your choice may be the same, and it may not. That is between you and God, and it doesn't matter what the world thinks.
If you have Balanced Robertsonian Translocation, I encourage you to start with prayer, then utilize the resources I’ve made available in this blog post. I encourage you to seek guidance from a genetic counselor if available at your clinic. If you have experienced multiple miscarriages and have the same Balanced Robertsonian Translocation (13;14) as me, you may want to ask your doctor about Preimplantation Genetic Diagnosis with In Vitro Fertilization.
Whatever you're going through, I'm here to tell you it is possible to have Balanced Robertsonian Translocation and conceive healthy children naturally. But whatever path you choose, whether it is IVF PGD or not, make sure you are at peace with your decision.
~ Traci McCombs, Amazon Bestselling Author
This post is to raise awareness for Trisomy Awareness Moth and to advance understanding of Trisomy Conditions.
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