What we know, what is still unknown - our di/di twin girl

I can't say enough how difficult & scary this journey has been so far. As a married couple, this is by far the hardest thing Joshua and I have had to go through. Much, much harder than the previous Partial Molar Pregnancy we went through a little over a year ago. It seems we've had bad news with every appointment since the discovery of our twin B's Cystic Hygroma at 12 weeks. 

In case you missed our announcement, we were so thrilled to find out at 8 weeks that we were expecting di/di twins - (fraternal twins, each with a separate sac and each with their own placenta). Spontaneous twins, at that - neither of us have any living twins in the family.

When 12 weeks rolled around, we found out that twin A is a boy and twin B is a girl. We also found out that our twin girl has a large amount of lymph fluid on the back of her neck and down her spine. Immediately, my sonographer went over what this could potentially mean and proceeded to have my OB come in to examine the images and explain the findings further. A lot of information was given initially, and it was more than I could really process at the time - I couldn't hold back tears as much as I tried. He said that he had seen CHs turn out to be Turner Syndrome, and he also said how he's seen them end up be nothing and completely resolve on their own. Sometimes Cystic Hygromas are simply a result of a delay in the lymphatic system, resolving towards the end of pregnancy,  but they are most often signs of a Chromosomal or Genetic Disorder. The only thing we could do was undergo testing and wait. The one thing my doctor said that stuck with me more than anything else, was "don't lose hope yet." For weeks I clung to those sincere words for comfort.

They had me scheduled with a Maternal Fetal Medicine specialist, or Perinatologist, the very next morning at 8AM.

We were told that without testing, there was no way to know for sure what was causing the Cystic Hygroma. We could either do Chorionic Villus Sampling on the spot - a riskier procedure, usually done between 10-12 weeks, or we could wait and undergo Amniocentesis between 14-16 weeks. We had the Dr and sonographer step out so we could discuss. I cried. I didn't want to be in the position to have to make this kind of decision. Joshua reassured me that it was okay if we waited, but I couldn't bear the thought of waiting another 2-4 weeks to do Amnio, and on top of that, we would have had to wait even longer for results. We decided to go ahead and have them perform the CVS that day - even though the risk of miscarriage was higher at 1 out of 200. We prayed together in that very room before we gave them the okay to come back in, and as they stuck me twice to draw out placental tissue from each twin I pushed through the  pain, and prayed and prayed over and over for God to protect my babies. For me, it was painful and scary watching the large needle inch closer and closer to each placenta. I just wanted it to be over with.

We waited about two weeks for the cells to grow. I got the call regarding our boy twin sooner and was so relieved to hear that the cells were normal. Unfortunately, there was not quite as much tissue on our twin girl so it was going to take longer for her cells to grow. Praise God for our sweet boy not having anything wrong. I prayed for our girl so hard, and at this point we had told many of our close friends and family what was going on so they could join us in prayer also.

We had a vacation planned the week of September 18th, which turned out to be such a blessing because it was the week we got a call from the Perinatologist regarding our girl. I missed the initial phone call, and had to wait about an hour for her to call me back. I literally stared at the phone waiting for it to ring. It was the longest hour of my life.

Finally the call came through, and Joshua and I held our breath as she began to talk to us. She spoke very slowly as she told us that the growth of our daughter's cells had come back abnormal. Her cells showed that she has Turner Syndrome - also known as 45,X or Monosomy X syndrome. She went on to explain more about what Turner Syndrome was and what it would potentially look like if our daughter survived. When she was finished explaining, she asked if we had any questions. I had already done some research on TS since my OB said it was a possibility, and since we had an appointment the following Monday, we thanked her for calling us and letting us know and told her we would discuss it more when we saw her for the appointment. 

I was so thankful we were away from home at the condo in Destin when we received the news. It allowed me to just soak in the beauty of the ocean, God's creation. It was such a blessing to be away with my family despite how grim receiving the news in the middle of vacation may seem. I was thankful. I was able to enjoy Branch as she rode carnival rides and had the time of her life even more then. We still had so much fun together on that trip. And at times when I needed, I was able to sit, cry, and pray. 

I was also relieved that of all chromosomal abnormalities & genetic issues, the diagnosis had been Turners. I know this disorder is highly variable in how it manifests, and there is a chance that our daughter will be able to have a very normal life if she is a part of the 1-2% that survive to birth.

*From NORD's website, rarediseases.org, and what I feel is important to focus on as we navigate through the unknown: 

Turner syndrome affects approximately 1 female in 2,000-2,500 live female births.

Turner syndrome is a rare chromosomal disorder that affects females. The disorder is characterized by partial or complete loss (monosomy) of one of the X chromosomes. Turner syndrome is highly variable and can differ dramatically from one person to another.

Many features of the disorder are nonspecific and others may develop slowly over time or can be subtle. It is important to note that affected individuals may not have all of the symptoms discussed below.

In females with Turner syndrome, all or a portion of one of the X chromosomes is missing. The reason that this occurs is unknown and is believed to result from a random event. In some cases, the chromosomal abnormality appears to arise spontaneously (de novo) due to an error in the division of a parent’s reproductive cells, either in the father’s sperm or the mother’s egg. This results in the genetic error being contained in all cells of the body.

In many cases, only a certain percentage of an individual’s cell may be affected. This is referred to as mosaicism. Specifically, some cells have the normal 46 chromosomes (one cell line) while other cells do not have the normal 46 chromosomes (second cell line). This second cell line may contain various abnormalities such as partial or complete loss of the X chromosome

Turner Syndrome girls are of normal intelligence, however, they usually have a variable set of other conditions such as:

• Delayed Puberty
• Premature ovarian failure
• Kidney, Thyroid, Liver concerns
• Heart anomalies

Common physical traits include:

• Short stature
• Webbed-neck 
• Puffy hands/feet
• Broad chest
• Low-set ears

What is unknown: 

• Whether our daughter will survive to birth (98% usually miscarry or are aborted)
• How this will specifically manifest in our daughter and what her symptomatic and supportive needs will be post-birth (i.e. who will be involved in her care: Pediatricians, Pediatric Specialists, Surgeons, Cardiologists, Endocrinologists, Speech Pathologists, Otolaryngologists, Ophthalmologists, Psychologists)

What is known: 

• She is loved
• She is prayed for
• She is wanted
• We are capable of raising and caring for her despite what the enemy tries to tell us
• She has a twin brother who already shares a bond with her and will have her back in this life no matter what

All there is to do is wait, pray, trust in God's perfect plan for our family. I really appreciate all who have reached out to us. On days when I feel most at peace, I know it's because we have a support system lifting us up and interceding on our behalf through prayer when we fail to. There have been times when I have felt so lost and lonely in this, frantically searching the internet for other mamas and stories to whom I could relate and reach out to. 

My hope is that someone else will stumble across our story and find hope in the waiting and in the unknown. My prayer is that no matter the outcome, we would have the strength to persevere in faith and give God the glory that He is so deserving of. We pray her story, her life, is one that impacts others in ways that might not be possible otherwise. We pray that she would be a reminder of the end game of eternity, of God's power and plan to make all things new in eternity with him.