Tuesday, December 16, 2008

Short Rib Polydactyly Syndrome - SRPS


This is my first shot at creating a blog. I'm sure it will get better as time goes on. I just wanted to get something started so if there were any other families out there that are currently going through this they have somewhere to go and someone to reach out to. There are very few places you can go online that discuss SRPS aside from obscure medical journals. I'm hoping to change this.

My wife, Erin, and I received a diagnosis of lethal skeletal dysplasia at our 20 week ultrasound, October 7th, 2008. The beginning of a long road. Our previous ultrasound on August 25th was a joyous occasion because it was then that we realized we were having a boy. We named him Evan. I can remember jumping up and down at home from the news. Evan is our second Child. We have a 2 year old girl named Emma. She's perfectly healthy and we are very grateful for her. We were fortunate enough to be blessed with a child before being hit with the reality that we are both carriers of the SRPS gene (still unknown) and have a 25% chance of this happening to us every pregnancy. Currently Erin is at the 30 weeks gestation and doing well. The thought of Evan coming into this world and leaving all within the same day, possibly the same hour, is terrifying to me. I want to see him terribly bad but it's bittersweet because I know the first time I see him will also be the last.

This condition is so rare that we had a terrible time finding medical personnel that actually knew what was going on. In fact, we really didn't know much or get help of any kind until we became aware of Dr. Deborah Krakow at the Cedars-Sinai Medical Center in Los Angeles. Dr. Krakow is the leading specialist at diagnosing this condition and conducting research in search for the gene(s) that cause SRPS. If you have been given a recent diagnosis of skeletal dysplasia you need to contact the International Skeletal Dysplasia Registery at Cedars-Sinai (http://www.csmc.edu/3805.html). Frankly, if your condition is rare, and terminal, this is the only place you really can go. Essentially every other avenue you take will all lead you back to this registry.

I will post more about our story later. There is definitely A LOT more to tell. For now I will leave it at this point just so I can get something out there in case others are searching.

Please feel free to contact me at EGL2004@gmail.com. I know exactly what it is like to go through what you are going through. I would love to help in any way that I can.