As many of you may have read in our last update on Vada, we went to Peoria last week to meet with a diagnostic doctor in regard to Vada's “distended” stomach. While we were there we learned of a heart “defect” and a stomach “defect”. (I just wanted to mention that I strongly do NOT like the word “defect” when pertaining to our child. She is not a toy, she wasn’t made faulty, and we can’t & wouldn’t if we could return her. God does not make mistakes and for some reason we were given this situation with Vada. We love her and will continue to do so. She is not “defected” to us, so I think they should change that term… but that is just me) With that being said (or vented) Both defects alone are indicators of Down Syndrome, and since Vada has two specific indicators we wanted to know what else we were possibly looking at. So we choose to do the Amniocentesis. The Amniocentesis consisted of two tests, a FISH (Fluorescent In Situ Hybridization), and a Karyotype test. The results for the FISH test came in last Friday, and we are still awaiting the results of the Karyotype. The FISH test came back positive for Down Syndrome. The diagnostic doctor mentioned Trisomy21, so I am assuming that is the cause for the diagnosis. In this update I am going to leave some links at the end, if you are interested in learning about any of the tests that have been done or Vada’s Diagnoses.
Today we took our second trip to Peoria to meet with Vada’s Cardiologist. This visit was not as dramatic as our first, which is a major relief! It was however a long appointment. Three hours to be exact! Two of those hours were the Sonogram/ECHO. It was straining on our nerves because through it all we didn’t get an answer to what we were looking at or for until the very end. Vada’s heart condition has been diagnosed as Transitional Atrioventricular Canal (AV Canal or AVC). In Vada’s case this actually consists of two different issues with her heart. The first being an Atrial Septal Defect – (ASD), this is the largest of the two issues. Atrial septal defect is a “defect” in the septum between the heart’s two upper chambers (atria). Meaning there is a hole in the upper part of her heart where the two chambers connect. The second problem is called a Ventricular Septal Defect (VSD). A ventricular septal defect is a defect in the septum between the right and left ventricle. The septum is a wall that separates the heart’s left and right sides. This is another hole in her heart, although it is smaller than the ASD. The doctor said if we had to choose on whether we would want the hole to be larger on the top, or the bottom, this is how we would want it. Meaning that while the holes in her little heart is NOT a positive thing; we have a better outlook on the situation because of where the holes are situated. If it were reversed, and the largest hole was on the bottom it would be something more extreme than it already is. So as of right now, the doctor said that if this continues to remain the same and not change for the worse then we can hold off on surgery until she is four to six months old. With her having Down Syndrome, it’ll probably be closer to four months, because people with Down Syndrome in general already have issues with their lungs. Plus holding off too long can cause to other serious medical conditions. The recovery on this surgery may be right around three weeks. The doctor also said that as of now she won’t need any medications prior to her surgery to help her heart out, and that in most cases this is a one shot ordeal. So hopefully she won’t need another heart surgery anytime again. After she fully recovers from the heart surgery she should be able to do all “normal” child activities. This all seems positive to us. We will be taking our fourth trip to Peoria on December 30th to meet with this doctor again. (Trip number three is in two weeks with the Diagnostic doctor)We will repeat the procedure that was done today just to make sure everything has stayed the same & then we won’t need to meet with this doctor again until Vada is born.
Justin and I are looking at today’s doctor’s appointment in two different ways. The first is we didn’t learn anything worse than what we’ve already been told. The second is that we have had one of many of our prayers answered (so far). We didn’t want both of her surgeries to be all at once. We also didn’t want them to be as soon as she was born. We are concerned for her strength, and I am saddened by the thought of our baby being so far away, in a hospital with complete strangers. So we are grateful that the heart surgery can be held off for a bit. That will give her time to bond with her family & grow stronger. The surgery on her stomach however, cannot be held off. I’m not for sure if I already mentioned this in the last update, but Vada will need to have surgery on her stomach with in the first three days of her life. The doctor told us that we could hopefully bring Vada home within two weeks after being born. Again with her having Down Syndrome, it may take a little longer. We are trying to figure a way to keep me up there for the majority of this stay. It breaks my heart to think that this is the way she is coming into this world, and I do not want her to be without me & frankly I don’t want to be without her either. At our upcoming doctor’s appointment we’ll be asking about a possible Ronald McDonald house for situations like ours, so we can afford to keep me in Peoria more often than not. If you know of anything please let us know. We would greatly appreciate it!
What we know so far…
Vada has Down Syndrome. She will need surgery on her stomach after being born, and then she will have time to be at home before her second surgery. We will learn more with each appointment & continue to post updates on Vada’s health. Please continue to keep her and our family in your prayers.
GOD'S blessings and Peace,
Tara & Justin
Atrioventricular Canal (AV Canal or AVC)
Atrial Septal Defect (ASD) http://www.americanheart.org/presenter.jhtml?identifier=11065
Ventricular Septal Defect (VSD) http://www.americanheart.org/presenter.jhtml?identifier=11066
What is an amniocentesis?
What is a Fluorescent In Situ Hybridization or FISH Analysis?
Prenatal Testing for Down Syndrome
What Causes Down Syndrome? http://downsyndrome.about.com/od/whatcausesdownsyndrome/a/Causeintro_ro.htm