We, by no means, consider ourselves experts on Thanatophoric Dysplasia (TD). We can only describe the disorder based on our own experience with Anakin, pictured above, and with what we’ve read.


TD is a form of skeletal dysplasia, otherwise known as dwarfism. There are two types of TD. Anakin had Type 1 TD so we will leave Type 2 TD out of our description.


TD is characterized by a small rib cage, short limbs, crooked femurs, and a depressed nasal bridge. We have seen x-rays of Anakin’s ribs and his ribs were narrow at the top, widened, and then narrowed again at the bottom. His ribs were so small that his lungs could not expand properly. This lack of expansion causes oxygen and carbon dioxide problems as well as allowed fluid build-up. We never saw x-rays of his legs, but they are obviously crooked. TD also causes hydrocephalus (water/swelling on the brain). Anakin did have a small bit of hydrocephalus at birth but it wasn’t immediately life threatening.


Babies with TD also develop seizures, have severe mental disabilities (or little brain activity), they do not grow much, lack speech, and lose their hearing. The three cases we’ve found that were “long-term” had tracheostomies, and so were machine-dependent, had seizures, lacked language, lost their hearing, had hardening of the skin (especially at the tracheostomy), were completely dependent on others, and had several hospitalizations because of infections.


Travis and I have been to see a geneticist. He said that TD occurs in 1/100,000 births. He also said that there was nothing that we did to cause it. He said that there was no testing they would do on us that could tell them anything, and our history did not give them a reason to want to. He said our chances of having another child with TD are the same as anyone else’s (less than .000000000001%). As for us having more children, he said our future is bright. We expected him to say all of this, but I needed to hear it from an expert. It has been great peace of mind. (Please don’t substitute our appointment/information for seeing your own geneticist.)


I have created a Yahoo group to provide a gathering place for families going through this. Please feel free to join the group and be in contact with other families:
Thanatophoric Dysplasia Yahoo Group


The article we cite below is the best we’ve found to help people understand what the “life” of a child with TD is like. It is a research article on the 9 year-old boy you’ve probably read about. Pictures are included, which at least for us, provided an understanding that we couldn’t have gotten otherwise. Samuel Mann’s website is a site we found two months after Anakin died that we felt may be helpful to other parents doing their own research. We have been in contact with Samuel’s mother. The other links we’ve provided are sites we read during our own research.