Week 9 - Thanatophoric Dysplasia

Leading up to this appointment, I did not have anxiety. I was not dreading it nor was I excited. We have gone to appointments and received no news, good news, and bad news. I have lived through it all and today is just another day of measurements.  

During my scan, we got the cutest pictures yet including a bunch of 3D photos. Cutest little pumpkin I’ve ever seen. Alexander moved and kicked through the whole ultrasound. We saw him move his little hand to his mouth and saw his chest go up and down. The ultrasound tech says he is practicing his breathing. I look over to Jason and thought “that must be good!” 

When our doctor came in she told us Alexander’s chest has stopped growing. We found out that the “breathing” was just a sign that the nerve going to the diaphragm was working, nothing more.  Alexander’s chest is now in the 2.5^th percentile. Our worst fear confirmed. When the chest gets to the 1^st-2^nd percentile, there is not enough room for lung development.

Our specialist said they were “generous” with measurements last time. How? How did his chest go from the 25^th percentile to 2.5^th in only 2 weeks? Instead of generous, I think she means wrong. Wrong in the way the other doctor told us Miami Children's Hospital would explain what the first couple of months would be like with our son; wrong in giving us this glimmering shimmer of hope. While I listened to the news today anger and blame to the other ultrasound tech and other doctor landed in my heart. I saw the other doctor in the hallway and couldn’t even look at him. Once I was in the car and away from the office the anger did not last. This is an incredibly rare condition, it is not their fault that they did not realize what they were looking at. After all they are not skeletal dysplasia specialists. We thought it must be too good to be true when we got the news, and it turns out we were right.

From the genetic home reference website: 

Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra (redundant) skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes.

Researchers have described two major forms of thanatophoric dysplasia, type I and type II. Type I thanatophoric dysplasia is distinguished by the presence of curved thigh bones and flattened bones of the spine (platyspondyly). Type II thanatophoric dysplasia is characterized by straight thigh bones and a moderate to severe skull abnormality called a cloverleaf skull.

The term thanatophoric is Greek for "death bearing." Infants with thanatophoric dysplasia are usually stillborn or die shortly after birth from respiratory failure; however, a few affected individuals have survived into childhood with extensive medical help.

Our doctor said she is “pretty certain” that we are dealing with Thanatophic dysplasia, type I. Damn it…  I knew this was a potential; I even though TD was probably what we were dealing with from the very beginning. 

[kick, kick, punch, head turn, roll] Throughout this entire day, Alexander has been moving. He moved 20 minutes after the bad news and was like a knife to the heart. I thought “this isn’t fair.”  Another 20 minutes he kicks again and I thought he was telling me “it’s okay, everything is going to be okay.” 

On the way home I cried for 45 minutes. Jason and I had to pick up the other car at one of the Chiropractic offices. At that point, I felt numb. I turned up the radio as loud as it went and opened the windows. I picked up Ana at her babysitters house and on the ride home I thought that if all went to plan, soon I should need two car seats. I looked back at Ana and thought in 10 weeks I should have two healthy babies, but I won’t. 

Jason stayed home from marketing, working and screening. He is playing with Ana on the floor right now. Thank you God for those two, God has given me so much. Within the past 3 months I have read a blog of a Mom who lost her son to a different genetic condition. She is the sister of a church friend that I know from Georgia. This Mom has been such an inspiration. On her blog she posted these lyrics more than once. “He gives and takes away, He gives and takes away, my heart with truly say, blessed be His name.” I’m so glad that I have gotten to read her blog. I hope she knows how much she has helped me through this journey. Our doctor today said to take one step at a time that we will survive this. 

With a giant whole in our heart, we might survive, but as of now Alexander will not.