We had Livi's follow up today with the Geneticist, Dr. O. who saw her in NICU. To review, Liviana had a Congenital Diaphragmatic Hernia, Multiple Hemivertebrae in the thoracic and cervical spine, a missing rib and a Ventricular Septal Defect. Because of the combination of anomalies they automatically check to see if there is an underlying genetic or chromosomal component.
The appointment was very thorough. We went through our family histories and any issues or concerns with us, Aria and Miles and our extended families. The issue of Brad's height and Mitral Valve Prolapse came up and Dr. O. did a very crude test (physical exam) to rule out Marfans. He got the all clear, which we were already pretty confident was not an issue.
Based on the very comprehensive testing with blood drawn in NICU she does not appear to have a "syndrome" that they have the ability to identify. She said initially, with her combination of issues they wanted to check her for Fryn's Syndrome and that has been completely ruled out. She said if Livi had Fryn's she would not be the normal looking, smiling child today. She said there is the label of VATER which is a combination of vertebrae and other anomalies which do not fall into any other condition or syndrome. Basically, at this point they don't know why or how these anomalies developed and at this point they cannot identify one syndrome or genetic disorder for all of it, based upon genetic testing and seeing her in person.
The relevance of all of this is whether we need be concerned about future issues showing up and whether this is was caused by a genetic or chromosomal component that will be relevant to other potential future children or grandchildren.
She wants to see her again in 2 years. She said if she ends up having other issues appear we would likely see them between now and then.
Liviana weighed 14lbs. 7oz. which is up from 13lbs. 10oz. one week ago. The difference in scale could account for such a large increase. She typically gains an ounce a day so that would be a HUGE gain in one week. Our ped's office uses a digital scale and they used a manual scale today. So, she is around the 50th percentile which is so awesome for her condition (she burns so many more calories with her breathing) and all she went through in the first month of life.
So, all in all the appointment was great. They think she is beautiful and amazing and we completely agree.
Hello everyone! Let me first apologize for the delay in update. Liviana is doing well. She still has a tiny bit of fluid in the upper part of her left lung but it is much better. You would barely have known she was sick. She never stopped smiling and laughing. We have had two follow up x-rays and doc visits to stay on top of things. This last Friday I took her in because I was worried about how much she was moving her upper body just to breath. She fell asleep on me in the office and was breathing the same way, with a lot of upper body movement so we checked her oxygen saturations and it was 98. Honestly, she may have always had that movement with breathing and I am just so much more focused on it because of the pneumonia. She weighed 13lbs. 7oz. at her appt. last Friday and was 13lbs. 10oz. this Friday. She has been gaining 1oz. a day for a couple of months now but only had 3oz. for all of last week. The doctor said that they typically slow down a little right now but we will keep an eye on the weight just in case. We will be back at her Ped next week to xray and check her pneumonia again. She also has a follow up on Friday with the Geneticist from UNMC who saw her in the NICU. I honestly am not sure what this appointment will entail but I am looking forward to speaking with them further about her Hemivertebrae, CDH, VDS and missing rib combination.
We have had a bit of transition that she too (and Aria and Miles) has handled just fine. We ended up in between house closings and found ourselves with a 3 week period of time with no home. We got lucky and were able to rent a home for 3 weeks that was available for the College World Series and Olympic swim trials. The kids are enjoying the "vacation house" as we are calling it because it is right next to a park so they get lots of outdoor playtime everyday. Liviana loves tagging along in the sling or the stroller and watching Miles and Aria play. We were a little concerned about the age of the home (1857) and dampness in the basement as it relates to Liviana's breathing. The doc said it could bother her a little and to just give her breathing treatments as needed. So far, so good. We move into our new home on June 30th and we can't wait to get settled.
We have been lucky that the Suburb we are in right now is having their annual fair called Papillion Days right next to our home. The past two evenings we have taken the kids down to ride the merry-go-round, eat and people watch. Liviana has spent the time in the sling kicking her legs and smiling at those who pass by. Every single person who has said something to her or about her has called her "Fella", "Handsome", or "Little Guy". Hmmm, on the first night she had on a pink dress with cherries. I'm not quite sure how you could think she looks like a boy but she enjoyed the attention nonetheless.
I surprisingly found myself a little emotional this past couple of weeks with our move. I think it was a combination of moving from the home we brought Liviana home to and hearing from some new moms expecting their CDH babes soon. I honestly have never stopped and taken the time to think about how this entire experience has impacted me. I think that is good, in that I have been able to continually focus on the here and now but it can have the downside of catching me off guard with these emotions. As I packed up our room I remembered the nights laying in bed during my pregnancy thinking about her arrival, how would she do and whether she would overcome her CDH. I packed up her pictures from NICU and the little signs the nurses made for her. I folded blankets that were in her isolette and put her little butterfly ornament sent to me from a CDH mom in her keepsake box. Liviana will never remember these times and as time goes on the clarity of the memories will fade a little for me too. However, it takes such a small moment, a blanket, a message from another mother or a photo to make all of those emotions of fear, joy and the unknown come flooding back.
I have posted some new links to the side for some new CDH babes who will soon make their grand entrance into the world or already have. Kinley is in Kansas City and was born on May 25th. Carter (NC) and Baby Girl Reed (KC) are soon to grace us with their presence. Please visit their pages and send them your well wishes. They are going through a time mixed with joy and fear that I wish no mother or father had to endure. I welcome any CDH parents, past, present and future to contact me.