Monday, June 23, 2008

Pierre Robin? What's that?

Pierre Robin Sequence (PRS) is the name given to a combination of physical birth defects. In order for PRS to be diagnosed, the baby must have a small or recessed chin and a tongue that appears too large for the mouth and affects breathing. A cleft of the soft palate is often present as well. It's estimated that PRS occurs in anywhere from 1 in 8,000 to 1 in 30,000 live births.

Our own story with PRS begins with our decision to have a 4th child. Believe me, we didn't take it lightly. We already had 3 healthy sons, but had lost a daughter who died in utero at 24 weeks gestation. For us, along with wanting another child, we wanted to try for the girl. My pregnancy was uneventful. At 37, I had an amnio and the results came back normal. Several ultrasounds showed everything in place and "normal". The fun started the morning of 9/28/06.

My OB wanted an ultrasound to determine the size of my daughter. My belly was HUGE. And when I say HUGE, I mean HUGE. We figured if she was very big, we'd have a c section and be done with it. SO off I went, no bag in hand, to the hospital for an ultrasound. During the procedure, the tech commented that I was "poly". I had no clue what that meant so I asked. She said, "oh just a lot of fluid"...then she commented on how chubby my baby's cheeks were.

Since I'd never been in this office before, the staff asked me to wait for the perinatalogist to arrive. I still didn't think anything was up, so when he finally got to the office (wearing a motorcycle jacket and big black boots and looking suspiciously young and a lot like Chris Daughtry), I asked him what was up. He said this to me:

"Mrs. _____. Your u/s shows an abnormal amount of amniotic fluid. Normal is 14, + or - 7, and yours is 38. This can mean 1 of 4 things: you have gestational diabetes (which we know you don't), a chromosonal problem (which we can also rule out because of your amnio results), nothing, or it could mean something is structurally wrong with the baby. In any case, your baby is about 7lbs 11 oz so big enough and I'm recommending you be delivered today. If you go home and your water breaks you are risking a cord prolapse and that's not good. So let's get you upstairs and speak with your doctor. "

So up I went. I remember feeling more and more apprehensive the closer I got to delivery and I remember saying to the perinatalogist "everything's going to be ok, right?" to which he slyly responded, "you're going to be fine".

The section was bloody and I recall hearing my doctor comment that whoever said my baby was head down was wrong, that my baby was frank breech. I remember the tugging and wondering how long it was going to take. When Kate was born, I could see she had all her arms and legs and she was crying. In that blissful moment, I thought all was well and I fell asleep.

Later, my husband came to tell me she had a cleft palate. I can still see the look on his face...half bliss that she was here, and yet a slight tinge of panic that all was not 100% well. Still, he said, "she has a cleft palate and they're going to transfer her to another hospital where they can fix it." I was groggy from the section and said, "ok, but she's fine though?" and he said "she looks great, perfectly normal". I fell asleep, B went home and the next morning I was awake in my room wondering to myself how women actually choose a c section, when a tall nurse came in followed by 2 EMTs and a transport isolette which held my newborn daughter. The nurse was from the hospital Kate was being transfered to and had heard I hadn't held my baby yet. She plopped her in my arms, I marveled at how positively gorgeous she was, breathed an audible sigh of relief she didn't have a cleft lip, and handed her back at which point the nurse said, "By the way, I'm pretty sure she has something called the Pierre Robin Sequence, but the doctor will call you later after someone examines her. It's not that big a deal, we see it a lot."

Pierre Robin Sequence....huh? What's that?

It took less than 12 hours for someone to call and confirm the diagnosis...and that's when the fun really started.

1 comment:

Pierre Robin Sequence Foundation said...

Hi :)

I hope you dont mind, but I have shared your blog (Kate's Story) on our Facebook page.

I am the founder of the Pierre Robin Sequence Foundation and love it when I come across a parent sharing their journey with PRS.

Kind Regards
Leigh Hawthorn