In her short three months of life my sweet Niece has had a tough time. She has been to the Dr. every week at least once since she was born due to not gaining weight. She just passed 8 pounds when she only started out at 7lbs 4ozs.
A little over a week ago she had to be taken to the hospital by ambulance because she was not breathing properly and actually was stopping breathing for 20-25 seconds at a time. She was then transferred to CPMC in San Francisco, where they ran every test in the book on her. Poor girl even had to have a spinal tap:( They really never figured out exactly what caused the breathing problems, but think it was a virus of some kind and treated her with antibiotics. They decided to give her a feeding tube as lack of weight gain is a major issue at this point. She gained a couple of ounces in the first 24 hours, so that was great.
After meeting with all the specialists yesterday she was diagnosed with Cornelia De Lang Syndrome. Which is extremely rare. The good news is that the Dr.'s say her case is very mild.
My heart breaks for my niece and my sister, brother in law and my nephew.This is a life altering condition. The Dr. said two things that resonated with me and are comforting- This baby is so lucky to have my sister and BIL as her parents as they will make sure she has every opportunity and all of her medical needs met. The second thing she said was that this syndrome is a label but does not define who she is... She is a sweet baby girl named Natalyiah.
To my sister:
I am here for you always in whatever way you need me. I love you all so very much!
PS: if you know my sis personally, they are at home now decompressing. Send her an email or text and she will get back to you when she feels up to it.