Diagnosis

February 21, 2008 (32 weeks)
I received my phone call from the genetic counselor on our way to Hopkins. She said that Dr. Miller would not feel comfortable delivering me at that hospital because they are not equipped with the equipment that he might need to live. Since all CDH babies are different she said that we should deliver where there in a facility that was better able to handle this type of situation. A little bummed I was but we would still have to see what the day brought.
We went to Hopkins and had another ultrasound. They confirmed Children's diagnosis. One of Hopkins OBs came in and talked to us during the ultrasound about what she saw. They did not have any reports from Children's. We asked the technician if he had a clubbed foot or flexed digits. They were looking for him to open his hands so they could determine if he had Fryn's Syndrome. This is the flexed digit part. They determined that it was very unlikely that he had a clubbed foot or even flexed digits. We asked about how many people I could have in the delivery room which I had been worried about since it was now going to be a hectic delivery. She told me as many as I wanted unless something bad started to happen. We also asked about a scheduled induction since I was so far away so we knew we would be there in time. The OB told us if I go into labor early, they would send a chopper for me. NOTE: When he was born he had neither; both hands and feet were normal. It was the way he was sitting inside of me.
After lunch, we had a consultation with the neonatologist. She explained to us what they would do once the baby was born and she was more thorough than Children's. I was really impressed with them. We discussed with her about not using the ECMO. She explained that we would have two options for when the baby is delivered. One was not to assess him at all and see what happens; and the other was to try to get him stabilized and then transport him to the NICU for further assessment. She said that she has seen no parents not do anything whose baby had CDH. We toured the NICU and PICU (ECMO unit). She explained machines to us that our baby could be hooked up to. She did this by using babies that were currently in the NICU.
My husband and I went home to think about what direction we were going to take after the delivery and she was going to call on Monday, February 25, to make notes on our chart. I had to make follow-up appointments for another ultrasound and to see the OB doctors since we had decided that was where we wanted to deliver.

February 20, 2008 (32 weeks)
I went back to be regular OB and asked her about delivery. She said I would have to contact a lawyer to have it documented what our wishes were exactly, but she didn’t see a problem with our decision.
I called the genetic counselor at my high risk OB doctors office and asked her if she ever heard about what my doctor told me to do and if she new of where I could start to look to find the right kind of lawyer. She told me she would look into it and let me know. She did call FMH and ask to talk to the director of the neonatology department (Dr Miller) to see if and what kind of problem they would have about me delivering at that hospital. Dr Miller wasn’t in at that time so she was going to call my genetic counselor back to talk with her. My genetic counselor was going to call me back once she heard something.

February 13, 2008 (31 weeks)
I had a follow-up appointment with the high risk OB. I was told that the baby had fluid around his lungs. This meant he was in heart failure but as long as he was inside of me he was fine. They didn't expect me to make it to 36 weeks because of all my fluid and that it would be a miracle if he came out alive at full term. The prognosis kept getting worse it seemed every time I went to a doctor appointment. I had talked about delivering in Frederick so I would be comfortable with the surroundings during delivery and to be close to my family as they are all close. The doctor told me it was up to my regular OB. I would have to ask her that. He also told me to keep checking for movement of the baby.
I did bring my ultrasound report to my appointment like we had talked about in the last. I did have the pictures and also the full reports that they (Community Radiology) sent to my regular OB doctor’s office. He looked at them and determined that you can see a shift in the organs, especially the heart as early as 18 weeks. He said there was no reason why this defect (CDH) was not caught sooner. The heart being shifted should have been enough of a red flag for the radiologist to have written something up on the report so I would have been seen by him (high risk OB) for a better ultrasound to determine exactly what was going on.
During the next week, my husband and I had discussed the issue of not even putting the baby on ECMO. His CDH was so severe and there are so many side effects associated with this machine that we didn't want our baby or us to suffer. We also wondered that if we were not going to use the ECMO (Hopkins and Children's have them, Frederick doesn't); what was the reason for having to travel over an hour to deliver. We wanted to deliver at FMH so we and our family could have the time to bond with him prior to his passing.

February 7, 2008 (30 weeks)
My husband, Emily and I traveled to Children's today for all of the testing. I had the fetal MRI first followed by the ultrasound. We were taken into a room to get the results of the MRI and ultrasound. We were told that our case was very severe and the baby would definitely need ECMO (heart and lung bypass machine). She also said that he was right sided. Emily wanted to know the head to lung ratio because in our research we found that this was a good indicator of prognosis. The doctor said this was used for left sided CDH and she hadn't calculated it yet but she knew that the baby’s was a 0.4 or below. 0.4 is a very severe case and chances are survival is minimal. She also said he might have a clubbed foot and flexed digits.
Next, we went to see the surgeon. We had to wait for an hour in a waiting room full of babies. The surgeon told us that babies on the ECMO machine are on there for two weeks. After that they take them off regardless of whether or not the babies need it to sustain life. We asked about surgery and ECMO. In our research we had seen that it is more risky to do repair surgery on ECMO but that it is done. At Children's they do not do repair on ECMO machine regardless. Note: This is not the case at Johns Hopkins as was told to us by another mother of a CDH baby from Frederick that also started her testing at Children’s.
ECMO has many side effects, one of which is a brain bleed which could cause death. This is caused by the blood thinners that the babies are put on. Using this machine is still not a guarantee of life. One day the baby could be doing fine and the next could be going down hill drastically and then bounce back up again. It is a big roller coaster ride.
After lunch, they performed an echocardiogram of his heart. This was a positive test. His heart was functioning and was anatomically normal.
We then went to see a genetic counselor. We talked about everything that had gone on that day and she was there for support. She asked about our family history to try and get a "feel" if there could be any other genetic problems associated with this defect since I was not having an amniocentesis. The results of an amnio also help the doctors prepare for what after delivery could be like. If the doctors new of other abnormalities, then the prognosis could be better determined and could be grimmer.
From here we made the decision to go to John Hopkins for a second opinion and to determine where we wanted the delivery to take place. Since we knew he would be placed on ECMO and Hopkins does do surgery on this machine and they leave them on longer if needed we thought that we would go here what they had to say. We were not comfortable with how we were treated at Children's either. We felt like they were very cold and inconsiderate, except for genetic counselor. We made an appointment with Hopkins to see if we would be more comfortable and to confirm our diagnosis. In the meantime, we continued to do research.

February 5, 2008 (30 weeks)
FeI had a regular OB appointment today. I told the doctor what was going on as she had no record of what the high risk doctor had determined. The OB told me that the defect is fixable, which technically it is. However, it is the lung damage that is the problem. I asked her why this was missed on all of my previous four ultrasounds (especially my 20 week ultrasound) and she said that possibly nothing was displaced yet; i.e. his organs were not moved around yet. She also said that maybe the lung damage might not be that severe because they might have been able to develop some. I left feeling somewhat relieved but I had not been evaluated a Children's yet.

January 31, 2008 (29 weeks)
I saw the high risk OB doctor who told us the baby had a right sided congenital diaphragmatic hernia (CDH). The doctor explained that this is a hole in the diaphragm where the intestines migrate into the lung cavity which prevents the lungs from growing and can displace the heart. He also said that right sided is less common than left sided. He said it might be genetic so they asked me about getting amniocentesis. I told them I was not interested in this as it was too late to terminate the pregnancy. I did not want to know if anything else was wrong. (I also have a perfectly normal 4 year old daughter). Most of the time this defect is a random hit and not associated with other issues. We (my husband, Emily and I) were told that there is no known cause for this. We were also told that the baby had a 50/50 chance of survival.
I asked this doctor how this could have been missed in all of the other ultrasounds. He said maybe the technician did not have clear pictures of everything and so the angle that the radiologist was reading the pictures from made everything look normal. He said I could get the report and pictures and bring them with me at my next appointment and he would go over them with me. He also said that maybe my baby's case might not be severe. Things might have started shifting after the 24 week ultrasound although the diaphragm does not close between 6 and 8 weeks. He was sending us to Children's National Medical Center in DC for further testing to determine the severity of the defect and hopefully get a better understanding of what was actually going on inside of him.
I went home to wait for Children's to call me with my appointment. They called later that day and my appointment would be on Feb. 7, 2008. My appointments were for a fetal MRI, ultrasound, consultation with a surgeon, echocardiogram of the baby's heart, and a consultation with a genetic counselor.
Emily and I began doing research on the internet that afternoon before going to Children's so we could be prepared and have our questions lined up for the "experts". We found a surgery that could be performed in utero up to 24 weeks gestation. The procedure would insert a small balloon on the end of the trachea of the baby which would be inflated and take up room in the chest cavity to prevent the organs from migrating into this area which would allow the lungs to develop normally. Because the defect was not caught in any of my early ultrasounds, I was not eligible for this procedure which might have saved my baby's life (no guarantee). We also found that every baby with this condition is different. All babies respond differently. There is no prenatal test that can diagnose and tell exactly if your baby will make it or not once born or have any other issues that are associated with this defect after birth.
My regular OB had called me sometime between this diagnosis and my next appointment. We talked about how upset I was at Community Radiology for missing the diagnosis. She said she called them to see what was going on and why it was not noticed. She left a message and never heard back from them which didn't surprise her. She also told me she was hesitant about sending her patients there for their routine 20 week anatomy ultrasound.

January 30, 2008 (29 weeks)
I went to my fifth ultrasound and actually had a different technician. I was glad that I had a different one. This is where it all began. She told me that I need to go directly to my regular OB because something was wrong with his stomach. It looked larger than normal. She also said something about me having increased amniotic fluid. She told me she was going to have the radiologist fax my report to my OB but I wasn't supposed to know that. I left feeling confused and upset.
I called my best friend (Emily Smallwood) who works with me and she went with me to my OB's office. We sat in the waiting room for about 2 hours before we were seen. The report didn't tell my doctor anything so she made me an appointment for the next morning with a high risk OB doctor.