Pierre-Robin Syndrome is a condition most often diagnosed at birth. It is sometimes genetic. Pierre-Robin Syndrome occures in 1 in 33,000 births. It presents with a small mandible and a cleft palate occasionally with a cleft lip as well. The childs tongue is normal sized but falls backwards and causes the child to stop breathing.
Symptoms:
Inability to eat/bottle feed normally. Breathing difficulties
Testing/Diagnosis:
Visual diagnosis for Pierre-Robin Syndrome and culture testing for MRSA
Treatment:
Cleft palate repair, jaw distractions, tongue lip adhesion surgery, g-tube placement, possible tracheostomy, special bottles, therapy
Resources:
Unknown
Personal Story:
This is the story of our warrior that stole my heart the second she was born. My entire pregnancy with our daughter was strange. I couldnt keep down anything including water up until the day I delivered. I actually lost 35 pounds while I was pregnant. When I was about 25 weeks pregnant we had a 3-d ultrasound done. My husband and I were both concerned with how our daughters face looked. Her chin and her neck were literally running together. We questioned the Dr who assured us that she was totally fine. He said some babies just have small jaws. Our daughter was delivered at 39 weeks and 6 days. I will never forget the look on my husbands face. The only thing he kept saying was dont look down. My husband is my rock and I have never seen sheer terror in his eyes like I did that day. Our daughter was stuggling so hard to breathe that she was almost black. A few minutes later she finally started to breath. Once we were in our room with her she continued to have episodes where she would completely stop breathing. The nurses at first said she was fine but after a few hours took her to the nursery to put her on an O2 monitor just in case. She was desating into the 40s. Three days and one google search later we found out that she had Pierre-Robin Syndrome. Her Dr had never seen it before. Our daughter was kept in PICU for two weeks and then transferred by ambulance to a differnt hospital 4 hours away that would hopefully be able to help her. She had a tongue-lip adhesion to try to improve her breathing. It was unsuccessful and she was air lifted to a hospital in NC that would hopefully be able to help her. She had her first internal jaw distraction when she was about six weeks old. Her heart rate was at almost 200 her entire hospital stay. After numerous rounds of pain meds the nurses chalked it up to maybe that was her norm. We found out the next year that her heart rate was up so high because she contracted MRSA in the hospital after her jaw distraction. The MRSA ate the entire right side of her jaw including her jaw hinge. The pressure built up in her face so much that it blew all the nerves on the right side of her face. Our daughter had a rib graft put in a few years ago to make up for her missing bone. That has since gone horribly wrong. The graft started growing exactly like a rib. It turned her jaw sideways turning her teeth with it. Due to all her jaw surgeries her jaw is also in a fixed position making it very difficult for her to talk and eat. She has had 22 surgeries about 90% of which have been on her jaw with at least 2 more years of surgery to follow. Our daughter is truly one in a million. Through it all she has dance parties in her hospital room and rides a tricycle around her hospital unit for hours. We have never met another child even remotely like her. She is our mir-RARE-cle.
Contributed by MOM Jessica Thomas
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