Thanatophoric Dysplasia
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.
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. The links we’ve provided are sites we read during our own research.
Baker,
Kristin M., David S. Olson,
Survival in Typical Thanatophoric
Dysplasia Type 1.” American Journal of Medical Genetics 70: 427-436.
Thanatophoric
dysplasia - Genetics Home Reference
Thanatophoric
Dysplasia -- GeneReviews
