Tristan's Story--Thantaphoric Dysplasia
October 1st, 2007 my husband and I went to our 16 week ultrasound to find out the sex of our beautiful baby. The sonographer was very quiet and not giving a lot of information. I said to her "everything looks like a normal healthy pregnancy!" She said that the bones looked short for the gestational age but that the doctor would come and talk with me soon. My heart dropped immediately. I knew something was wrong. As my husband and I and my parents waited for the doctor to come, I began to cry. When the doctor came in he told us that the baby had a lethal skeletal disorder not compatible with life outside of the womb. They thought that the baby had Thantaphoric Dysplasia which would cause him to have a very tiny ribcage not allowing his lungs to develop, and cause the baby's head to grow so large that I would have to deliver him through c-section. The doctors felt as though termination was the best solution for me and my health. Because of mine and my husband's beliefs we did not want to terminate the miracle that God had given us.
The next day we went back for an amniocentesis and to talk with the genetic counselor. We found out weeks later that our son did have Type II Thantaphoric Dysplasia. With Thantaphoric Dysplasia the baby's ribcage is too small for the lungs to develop, so a lot of times babies with this disorder do not practice the breathing process in gestation when the lungs begin to develop causing preterm labor from the amniotic fluid building up. Thantaphoric Dysplasia is a rare chromosomal disorder that causes cloverleaf shaped skull, curved femurs, shortened limbs, and small ribcage.
At 25 weeks I did deliver our son, Tristan Isaiah Davies, naturally due to too much amniotic fluid. He was stillborn. His head measured 36 weeks at delivery. I have to say that carrying my angel and delivering him has been a true life changing experience. I truly took pregnancy for granted. The idea that pregnancy just happens and then you have a baby. From things that I had found on the internet about this disorder the babies are not easy to look at, but I have to tell you God is amazing. My little man was absolutely perfect. He weighed 2lbs 13oz. He looked absolutely perfect and I would not change a thing about the decisions that my husband and I made. By no means was anything that we went through easy, but looking back it is amazing how God works things out for you. Carrying my son for the time that I did and feeling him kick inside of me and knowing that this was our time together is something I would not trade. He has made me realize how things in life could always be so much worse and that we all no matter how bad our situation is, have so many things to be thankful for. This has been a very difficult time but I know that my little man is not in pain and that he is watching over me daily.
I am excited for future babies because this disorder is rare and has a less than one percent chance of happening again. If it does happen again I know that God has made me very tough and I would do the same thing again. I know that God's plan is perfect just like my little man.
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-The support, information and encouragement provided by the PPFL parents is not meant to take the place of medical advice by a medical professional. Any specific questions about care should be directed to a health care professional familiar with the situation.