We know many of you have been anxiously awaiting the news of our follow-up on Monday. I'm sorry it has taken so long to update, unfortunately work has interfered. The main reason for the quick follow up was to get a better look at the babies heart and kidneys, as well as double check the other findings. After the sonogram we met with a Geneticist and genetics counselor to discuss the findings and options.
This is what we know so far:-The baby has a double aortic arch. There is also a misalignment of the arch, potentially
ventricular septal defect (VSD)-There are missing radial bones in both arms.
-One of the kidneys has an abnormality in development & position.
-The eyes are close together which could potentially signify mental handicaps, severity at this point is uncertain if at all.
-The baby will need to be born in a university hospital setting to ensure all the care needed at birth is readily at hand.
-There is also still a chance the baby could have trisomy 18 mosaicism. Patients with trisomy 18 mosaicism have a less severe clinical expression and longer survival depending on the degree of mosaicism. Partial trisomy 18 varies in its clinical picture from mild mental deficiency and improved survival to being indistinguishable from full trisomy 18. This depends on the extent and which part of the chromosome is affected.
At this point we are being referred back to a Pediatric Cardiologist for consultation on how quickly the baby may need surgery for the double aortic arch and to explore the other potential abnormalities. There has also been a test ordered from the cells retrieved through the amnio for
Digeorge syndrome. There is a good chance that we will also be consulting a pediatric orthopedic surgeon.
The geneticist was wonderful. She explained as best she could the various paths this could take us. She was also very upfront about not being able to provide us with a lot of answers at this point, if at all. The truth is we may not be able to determine the cause of these abnormalities, only time will tell. So far the team of Doctors at the University of Maryland Medical Center have really helped us to feel more comfortable. Their communication is very honest and too the point. Even though we are still a little frustrated with the lack of knowledge, it is nice to finally have some direction. This is still going to be a very rough road all the way to birth and potentially beyond. We are preparing for this as best we can. We continue to hear from many people with words of comfort and compassion. It certainly helps to know that we have so many people in our corner helping us through this battle. Thank you all!! We love you very much!!!
I would like to leave you with the prayer I have written to get me through each day so far:
"Oh God, I thank you for the day you have given me and the strength to get me through it. Please give me the courage and insight to face each new hurdle through this long and difficult journey. I pray that you watch over my unborn son and help him to understand just how much we love him. Grant me the ability to see as much positive as I can, and see clearly through the fog of confusion that surrounds us. I know that you are making me a stronger individual somehow but it is hard to comprehend how. I ask that you bless our child and help him to have a fruitful life. Bless the doctors and individuals assisting with his care. Thank you for my loving wife as she stays strong and continue to watch over her. Continue to show yourself to us through your will and not our wants or desires. May your love embrace our family and raise us above the fears we are feeling. May tomorrow be a brighter day as it is one day closer to holding our son that you have granted us. In your son's name I pray. Amen!"
