Welcome to the Blue Butterfly Blog

Thousands of families suffer in silence from the loss of a pregnancy or an infant. My struggle is just beginning. I carried twins to term knowing that only one would survive. This is the story of my journey through shock, devastation, grief, anger, and hopefully someday acceptance. I know that other families are desperate to know that they are not suffering alone. This is for them.

Monday, November 21, 2011

Thanatophoric Dysplasia - A Crash Course

I find it amazing that the friends you make in your childhood can remain the ones closest to you as you age. One of my first great friends was Bill. We have been friends since 5th grade and I graciously assumed my role as "one of the guys" throughout high school. I know a lot about Bill - his aspirations, his baseball injuries, and absolutely, his crushes.

The most important crush he ever had was Becky. She was a few years younger and was of course a threat to our single way of life. But, about 15 years later, Becky is Mrs. Bill and they have two beautiful children together.

I tell you this because Becky is not only a great mom and wife, but she is a neonatal ICU nurse and was the first person I turned to when my mind flooded with questions. I trust her and I knew she'll give me the real answers, no matter how painful. And she did.

Brad and I had been frustrated. We couldn't remember exactly what Dr. Amburgey had said our baby boy's problem was and my OB wasn't familiar with it to give us the right answers. The typical pregnancy questions like, am I gaining the right amount of weight, will I have to go on bed rest, and can the twins punch each other through their amniotic sacs, were replaced with terrifying uncertainties:

Is this hereditary?
Is it from the medications I have been taking?
What will I feel if he dies inside me?
Could his death cause me to miscarry the healthy girl?
Why exactly can't he survive?
If he does survive until delivery, how long will he live?
What will it be like if he is born alive - will he cry, will he be asleep?

Between Dr. Amburgey and my dear Becky, Brad and I have pieced together some information about our son's condition.

Our baby's condition is called thanatophoric dysplasia. Thanatophoric is a cryptic Latin term meaning death-seeking or death is coming. Dysplasia describes abnormal growth or development. My only experience with these terms was the fact that our chocolate lab has hip dysplasia - I thought it was something that happened to animals.

In essence, the baby's body is the right size, but his arms and legs are very, very small. They are not straight like his well-developing sister. Instead they resemble a telephone receiver. At our most recent visit, we learned that his head is misshapen and there is a disjoint that will not connect before birth. The fatal aspect of this condition is that the space between his spine and rib cage will not allow for proper lung development. As our genetic counselor, Carolee, explained, even if you could magically open the rib cage after birth, the lungs would not know how to inflate.

Carolee also calmed our fears that we have caused this ourselves. She said no medication or any amount of drinking or crazy behavior would cause this dysplasia. It is likely caused by a spontaneous genetic mutation. A simple error in DNA replication that occurred during the development of either the sperm or the egg, well before conception. It is just utter bad luck that the mutated zygote is the one that led to our little guy. We will have more testing after he passes to assure that this is not a hereditary condition.

Our son should live to delivery. He does not need lungs while he is safely attached to the umbilical cord and sharing my oxygen stores. I am keeping him alive and it absolutely destroys me that one day I must sever that physical lifeline. In the meantime, I am to nourish and care for him as if he will live a healthy life. I have learned that he gets excited when I eat Taco Bell.

Right now, the doctors' main focus is on our healthy baby. Because our babies our most definitely fraternal - from two eggs and two sperm in their own amniotic sacs - our son's condition does not at all affect our daughter. The main risk is that of early labor being cause by excess amniotic fluid in the boy's amniotic sac. For some unknown reason, fetuses with skeletal dysplasias run a higher risk of poly hyperamnious, or too much fluid.

That's where Debbie, our sweet, skillful ultrasonographer comes into play. We have a standing date every other Wednesday at 8 am to measure the amount of fluid around each baby. In contrast to the very first ultrasound when you fall in love with the tiny blob image and beating heart, I hold my breath until both babies are identified and their heart rates are measured. Then I wait for the a-okay on the fluids. Finally, I look at my baby boy who is unwittingly twisting, punching, and mooning his sister. I can't prevent the tears, but I think they are partly those of joy that they have each other for these precious nine months.

Delivery day is still something I cannot think about without wanting to get physically sick. I am terrified, anxious, excited, and sad. We don't yet know what type of delivery I'll have. They'll do what is best for our little girl. Our son may be stillborn or he may live a few minutes to a few hours. He might cry or he might sleep. All we hope for at this point is that we have a chance to hold him and let him feel safe and loved.

Brad and I don't need to face delivery or any of this process alone as we had thought in the beginning. We have the most amazing family and friends that have helped us through this past 6 weeks. And, our doctors and specialists reminiscent of angels. I tell them at our appointments that I am so glad there are people in the world like them.

Accept all the help that people are willing to give you. There are so many people out there whose goal is to make this process a bit more manageable. We have our OB, maternal fetal medicine specialist, genetic counselor, therapist, and family support coordinator from perinatal hospice.

We are no longer alone. We have an army of love and support looking out for our babies.


  1. I found your blog from my friend Sarah P. I can only imagine how challenging everything you experience now is, and how your life will be forever changed. I know couples who have lost children - born live or still born, miscarried, almost born, and it is tragic. They have taught me never to let anyone take their experiences away from them, to never feel they need to be silent about them, to never think they can't talk about babies they have lost... They have taught me that going with your gut is so wise in navigating through the joy and the grief. Your babies are both blessings and will bring you untold gifts. We are all made of star stuff, and our lights will shine in the dark and in the light. I wish you peace, I wish you strength, I wish you love. I hold you in my heart. You are not alone - you are never alone. Thank you.

  2. my husband and I went through this in 1993 before there were DNA coding we had to rely on our genetic counsellor and exrays and hope this was the prognosis. I know how you feel I wanted to stay pregnant forever when I found out our baby girl would not survive outside the womb.
    blessings on your family.