Our day begins at 9am at TCH with a visit to a genetic counselor to discuss some of the tests that would be done on our little one and to discuss possibility of us having genetic screening also, we opted out of this at this time as he is the priority (not us through genetic screening). The DNA testing that they would be doing on our little man was a Chromosomal Microarray Analysis (CMA), kyrotype, and FISH. These are all tests that would check for other abnormalities that he might have in conjunction with his LUTO condition. The results from these tests would play a large role in how any intervention would proceed.
Shortly after our meeting we went back to a sonogram room where I would have two procedures done similar to an amniocentesis. The two procedures that were being preformed are a cord blood draw for the DNA testing and a bladder tap. They bladder tap was to remove urine from his bladder to check different levels to see if his kidneys were functioning. The other part of this that they will be looking for on Friday is to see if he bladder fills back to what it was before they tapped it. They measured his bladder and it was 5.8cm prior to the tap and they removed 60cc of urine. These tests were very emotional for the both of us and our hope is that we will get better clarity of what is really going on with our little baby.
Right before we left for lunch we spoke with a pediatric nephrologist (kidney specialist) who we would be working with if our little boy comes to full term. He went over all the details and expectations that we should have during this time. Our first question for him was what his thoughts were about the severity of our son's condition. He said that he did look at all the sonograms pictures prior to meeting with us and he felt that our case was severe. He also stated that he was not a fetal doctor and it was only from what he could see based on the images that he is given, nothing could really be determined for certain until the baby arrived. He told us that our case would be challenging and that we could expect our lives to be changed. He told us based on this information that we should expect that he would be in the hospital for the first eight to ten months. When he said this to us I think both of us thought of our other son we had at home, I think I might have even said "WOW" out loud. As a mom of one already I was struggling with the thought of having our second child in the hospital for that length of time and how I would balance it without allowing our oldest son to feel like mommy forgot about him or only cared about his baby brother more. All the emotions came rushing back once again but we were holding it together. We also discussed that once he became stable that he would be put on dialysis and would remain on dialysis till a kidney transplant happened around the age of two to four. He told us that a kidney transplant would last approximately ten years and that after that he would have to go back on dialysis or have another transplant. We do know that his little kidneys are damaged but to what extent we really do not know (this is what the bladder tap was to help identify - both the quality and quantity of the urine). We also asked him what the mortality rate of babies with this condition and he said that all depends on how stable that baby was after birth and how developed his lungs were. He said that if his lung development was good that we could expect a 25% to 50% mortality rate, if his lungs were not developed and he went into pulmonary hypertension we could expect 100% mortality rate. Once again my heart sinks more. All of this information from this doctor was overwhelming and another hard pill to swallow. At this point we are not even close to talking about these steps because we don't know the condition of him and our steps that we will take to get him to term, however all of this information was very good to have and gave us an idea of what we would need to expect down the road.
After lunch we head back to another room to have an echo of the baby's heart to find out about the information we received early in regards to the fluid around it and to see if there is anything else going on. This scan took an hour and fifteen minutes and they took over 140 pictures of his little heart. They did confirm that his right side of his heart had fluid around it and that both ventricles were thick, this is due to the kidneys not properly functioning as they should and putting more pressure on the heart. They did say that his heart looked good and did not appear to have any other issues, this was a huge relief.
At the end of the end of the day we reconvened with the staff to review the urine analysis and to discuss the options from this point forward. The numbers were better than they had expected (a good sign), but they indicated some kidney failure. The doctors were mainly concerned that the bladder was not as full as they normally see in LUTO fetal patients. So our hope for Friday is that his bladder would fill back to or close to 5.8cm so that another bladder tap could be performed.
Pending this there would be a couple of different routes we would take. If they are able to perform another tap on Friday, we would compare the results to today's results and
1) if the results come back and the analysis is better then we would proceed to putting in a shunt. The shunt is a surgery and does have some higher risks for me as a mama but would help our little boy's bladder to drain his urine into the sack to create amniotic fluid and to help with lung development. If this is a route we can take, the surgery would be performed the following week.
2) if the results come back and the analysis is the same or worse then no intervention can be done for our little baby.
Also, the FISH DNA results will come back on Friday and that would also tell us what we can do. If those results show any negative outcomes we also will not be able to provide an intervention for our baby. The reason for this is that there could be another cause to his condition and it would be too much risk for us to proceed if that were the case.
We left this day feeling like we had gained more information than we ever expected to have, yet this emotional roller coaster of hell has just begun and is far from over. We would do anything for our son, but as a parent going through this we feel so helpless as well. We are still processing everything and praying for clarity and that we as parents to this very little baby make the right decisions for him and for our family.
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