Daniel's Diagnosis
Thanatophoric Dysplasia: Our Experience |
Our pregnancy with Daniel was every mother's dream. I had limited nausea and had a very healthy and easy pregnancy. We were 19 weeks into our pregnancy when we went for a sonogram at our regularly scheduled doctor's visit. Being my first pregnancy, I didn't know what to look for or expect, but I could tell by her body language that something seemed off. The technician showed us a few key parts such as the hands, feet, and heart and then politely finished. When the doctor came in he said the words that every parent fears, "we found some discrepancies in the sonogram today". My heart stopped and fear overcame me. He continued on explaining that the limbs were measuring shorter than what they should be and there was some fluid on the brain. I began thinking well maybe our baby is short like me, but I can't explain the fluid. I asked him what this means for our baby. He explained that it was on a spectrum for dwarfism and possibly some mental disabilities. Being a special education teacher, I thought well I can handle raising a special needs child, that's my career. The doctor and sonogram technician empathized with us to learn our baby might have some disabilities and referred us to a specialist for neonatal care in Pittsburgh. My head was spinning. We spent almost three years trying to get pregnant, and finally (after seeing a fertility specialist for three months) we were having a baby. There can't be anything wrong with this baby, this is finally our chance to start a family. How could our baby be sick? All I could think to do was pray, which is what I did
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Thanatophoric Dysplasia: Medical Information |
When the medical staff said these words to me I had no idea what they were even saying. I asked the doctor to spell it for me because I couldn't even imagine how to spell it. The day after we received Daniel's diagnosis I began researching the medical findings looking for hope of our baby living through this. My research yielded little hope and made the my heart sink. I read through the few credible sites that explained thanatophoric dysplasia and found little else. I am by no means a medical expert, but below is the summary of the information I found on the topic.
Thanatophoric dysplasia is caused by a chromosomal mutation of the FGFR3 gene. Some characteristics include short limbs, a small chest cavity, excess skin, a large forehead, and wide spaced eyes. There are four mutations of the FGFR3 gene; two of which cause dysplasia and two of which cause thanatophoric dysplasia. There are two types of thanatophoria dysplasia, Type I and Type II. Type I occurs in about 1 in 20,000 to 30,000 births and Type II occurs in about 1 in 50,000 to 60,000 births. Type I is characterized by an underdeveloped skeleton and curved bones. Type II is characterized by shortened limbs and a cloverleaf skull. Both types cause either a stillbirth of neonatal death due to difficulties with the respiratory system. Thanatophoric means "death bearing" and dysplasia is another word for dwarfism. The part that makes it fatal is the lack of space in the chest cavity for lung growth or the lack of lung development. It is not hereditary because it is caused by a new mutation. |