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.
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6 comments:
Hi Amy, sound like Livi had a good appointment. Isn't it hard to think that these things can "just happen" and we may never know why? Hopefully she won't have any other issues as she grows and gets bigger. She is absolutely adorable!! :)
We will be in Papillion over the 4th of July weekend. We will go to the Omaha Royals game on Friday and then the zoo on Saturday. We'll stay with John's aunt and uncle who live close to the hospital there (Midlands isn't it?). It is a family tradition we have done for almost every year the past 11 years and we love going!
I'm tempted to take another "vacation" trip in August so Leah can do her follow-up visits in Omaha. Since we moved, we were going to find new providers but its hard to jump in with someone who doesn't know her full background. We would just see the surgeon at Children's (we had Dr. R) and her pulm who is out west with Midwest Chest Physicians.
Take care and good luck with the next move!!
Oh that's great news!!! So glad Livi is doing so well!
Dawn
CHERUBS CDH Group
http://www.cdhsupport.org
Good news, I'm glad she's doing well and hopefully she won't have any syndrome.
I'm so happy to hear that she's doing so well. Also glad to hear that there doesn't seem to be any genetic disorder.
I've meant to go to Papillion days many times, but never seem to remember :)
Missy
I was born with EXACTLY all three of those conditions- I do not like to post my email because this is very personal but is there a way I can email you - or I will set up one without my name. For the record, after multiple surgeries, I am fine most of the time. I do not want to scare you - I am a pediatric oncologist so I see children with severe medical issues. I did however spend a year in a body cast, not to mention halo femoral traction had heart surgery among numerous others. I was fortunate but keep in mind, there are so many more wonderful procedures available now.
Siobhan,
My e-mail is on the sidebar of the page. I would really love to speak with you further.
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