It has been a long 3 weeks... We got married on September 4th,2010. It was a day I'll never forget, thanks to (hurricane) Earl. But in spite of that, it turned out to be a beautiful afternoon, and glorious celebration of LOVE. A few days later (Wednesday, September 8th) we had our 20 week ultrasound.
As the appointment began, there seemed to be some confusion, "Why are you here?" "Umm, for our 20 week ultrasound", "no, but why are you being fallowed by the Fetal Assessment Unit?", "Because of my age at the time of delivery, I'll be 35". "Well actually that age was moved to 40 several years ago, so why are you here..." It took some more questions and racking my brain, but eventually we came to learn that we were being followed by the FAU because of a problem that I had been born with (but had no complications as a result). They were "on the case" to carefully screen the baby for this problem (hiatial hernia); My husband also told the doctors that he had a distant history of heart conditions at the time of birth. So there was the real reason that we are being seen by the FAU.
So, once the confusion was all cleared up, we moved on with the appointment. Baby was very active and moving all around; despite this I could only feel the occasional flutter type feeling. But I was very happy to see all the movements, he or she looked like a gymnast preparing for the Olympics somersaulting here and flipping over there. During the appointment the technician took many measurements and answered lots of our questions.By the sound of the conversation everything was looking good. The had checked for signs of hiatial hernia (around the diaphragm) and looked at the heart as well as all the regular tests, and measurements that they usually complete. Near the end of the appointment, the doctor came in to see us (Dr. Scott). She was very pleasant and reran a couple of the tests after looking at the images that they had captured during the appointment. She seemed a bit concerned about on particular measurement in the cranial region, and then explained that it was measuring larger then typical. Expecting a casual answer, I asked what that meant for our baby... I was not prepared for the answer... they wanted to run some blood work, an amniocentesis, and possibly a fetal MRI to double check the findings. They also told us that one of our options was to terminate the pregnancy! This blew me away! I was not expecting this type of news at just over 5 months into the pregnancy especially since all of our tests and blood work up until now all came back fine. Also, I didn't understand why the doctor would so quickly offer us the opportunity to terminate; (it seemed it was offered just because the baby may not be "perfect"). But, as we were not given any information more about a possible diagnosis I could not fully grasp why this was even mentioned.
I asked for a few moments to speak with my husband, so we could process a bit and get on the same page as it were, about the tests that were being recommended. We decided that we would do the blood work, and have a fetal MRI done, but would hold off on the amnio, as there was a risk of miscarriage associated with it, and we thought it unnecessary at this time.
We had the blood work done before we left the hospital and about a week later I received a phone call, and was called in to have the Fetal MRI done. We had scheduled a follow up with the FAU on the 24th of September to discuss these results and have an other ultrasound to see if the image was clearer.
On the 24th, my husband was not able to make the appointment as it was a busy time for him at work. I thought that this would be a lovely opportunity to share the ultrasound experience with my mother, as she is going to be a grandmother for the first time, and they did not have/ or use regularly ultrasounds 35 years ago when she was pregnant with me. So, my mom came with me to the appointment, again not expecting any problems.
We had a regular ultrasound as per the last three, and was informed by the technician that when the doctor came in at the end of the appointment she would go over the findings of the F-MRI and the blood work. I excitedly pointed out features of the U/S to my mother who at times really seemed lost as to what exactly she was looking at. It was like she was looking at a road map to a foreign country and trying to figure out directions... but at the same time she seemed fascinated.
When Dr. Scott came in at the end of the appointment she again focused on the area of the brain that had been of concern during the last appointment. She told me that the F-MRI had confirmed her findings... the space in the brain is larger then it is supposed to be because it it filled with Cerebral Spinal Fluid; commonly called Hydrocephalus. this build up of CSF is because of a blockage in the brain area that prevents the fluid from being drained down the spinal column and absorbed back into the body. At this point they can not tell us why this blockage has occurred. They can tell us that there is no indication of Spinabiffida, and there would be other marker too if it were Down's Syndrome (both common complications with pregnancy). As of right now they are calling it Aqueductal Stenosis; which simply means a blockage of the Aqueduct, the space fluid drains from the cranium to the spinal column.
Dr. Scott gave mom and I a few moments to let the information absorb, and again did inform us that termination was still an option. She again suggested the amnio, which would allow for genetic testing to see if there was a route cause for the complication. She also told us that if it were a genetic condition that was associated with certain chromosomes, that the baby may not survive until birth. My head was swirling... I have far too many questions and not nearly enough answers. Dr. Scott attempted to get us an appointment with a Pediatric Neurologist. But after speaking with him, she came back to tell us that between the two of them decided that it would be more appropriate for us to see a Pediatric Neurosurgeon. this is the doctor that would have more details about treatment and possible outcomes for our baby's longterm development. That was not an easy day. We left the hospital more confused then ever, with a promise from Dr. Scott that she would get us an appointment with the Neurosurgeon. By 4:15pm, Dr. Scott phoned me herself, to see how I was doing and to tell me that she had been trying to get in touch with Dr. MacNeilly all afternoon, but he was in the OR. She assured me that she had left a voice mail for him and faxed him a referral for me to see him. She told me she'd be out of the hospital on Monday and Tuesday, but if I had not heard anything from Dr. MacNeilly's office by Wednesday to phone her directly! and she would help us get in to see him quickly.
Today is September 27th, this morning I received a call from Dr. MacNeilly's office and we are to go see him tomorrow. I am hoping that he'll be able to give us more specific information about our possible outcomes then the internet... (The internet has very clinical journal papers, and does not specifically differentiate different causes for the blockage... or other complicating factors...). So for now, I sit, emotional at times, very logical at others, in anticipation of what news tomorrow will bring. I'm sure that there will be lots more tests to do, including the amnio (which we will have done in a few weeks, giving baby every possible chance at survival... if miscarriage/ pre-term labor resulted from having the test done); and I'm sure that he will not be able to answer every question we have for him... despite this we continue to pray and have faith and hope that everything will work out the way it is supposed to... It will be difficult if that's not the same as the way we want it to work out... but we will overcome this obstacle too.