So, you ask, just who are these people? Well, let's start with
who we are not. We are not doctors, we have no medical training. We don't even really watch
doctor type shows on TV. My husband and I have degrees in computer science, physics and
we dealt with almost nothing live in school. I (Mommy) am certified as a Montessori
Elementary teacher, but I only teach now and then these days and I have spent almost all of
my professional life as a computer programmer.
We are the parents of one beautiful daughter (six years old
as of June 2008) and of a wonderful boy (currently twenty months old) with fetal hydrocephalus. While we may
not have any medical training it's amazing the education you can get in a very short time on
a subject when you have to. Our purpose in sharing our experiences is to hopefully make this
process easier on other parents. So, to give this whole site some context we are sharing our
We are the proud parents of a perfectly normal 6 year old daughter. None of our family has
any history of birth defects of any kind. We thought that the genetic questionnaire was an
annoying formality because we answered no to every question of problems in our family history.
The only reason we were there doing the questionnaire and getting a level II ultrasound was because
I (the Mommy) was 35 years old and this seemed to cause the doctors to produce a great number
of recommendations on things to do. In the end we found we had a problem that doesn't seem to
be age related at all.
The day of our level II ultrasound (also known as a full anatomy scan) was one of excitement.
We brought our daughter with us so that she could see the baby and we were hoping to find out
if it was a girl or a boy. We found out in the first few minutes that we had a boy and our daughter
was happy because she really wanted a brother. We went through the whole ultrasound and then the
tech said that the doctor would be with us in a few minutes. We sat looking through all the pictures
that the tech had given us and planned out how we were going to put them up on our website for
our extended family to see.
The doctor had us come and sit in his office. I don't think I will ever forgive them for not
taking our daughter out of the room to sit with a nurse or something while they gave us the news.
She was sitting on Daddy's lap as the doctor told us that there was something very wrong with the
baby. We sat stunned as we listened to his explanation of what hydrocephalus was and went into
detail with all the things that it could possibly mean for our baby, including death if it turned
out to be the result of a critical chromosomal defect.
The doctor suggested that we have an amnio done right away and Daddy took our daughter out for a walk
while Mommy lost it in a room as I signed the permission to do the amnio.
We had no time to absorb this ourselves before we had to try and tell our daughter that her little
brother was sick and we didn't know yet what was going to happen with him.
We were told that a fetal MRI would be scheduled within a few days and that they would request that
we get the FISH results as soon as possible. The doctor did
do a good job getting everything lined up
as fast as possible to find out as much as possible as soon as possible.
The Doctor Switch #1
We have to note here that we started out with just a regular OB at the county hospital. They
don't have the equipment for a level II ultrasound. This is a really detailed ultrasound where
they measure bones and organs and every imaginable thing about the baby to make sure that those
measurements are within normal parameters. The ultrasound machine itself isn't any different than
the one in the OB's office, but the software to do the measurements is apparently incredibly
expensive. As soon as we got our diagnosis our regular OB went to just doing blood pressure/weight
and the normal Mommy stuff and all other stuff for the baby was switched to a high risk group attached
to the bigger hospital in a nearby city that has a level III NICU. The baby would not be delivered
at the hospital 15 minutes from our house, he would be delivered at the one 40 minutes from our house.
We actually figured we were lucky to have another hospital so close by.
The first week was filled with tests, we had the ultrasound, an MRI and an amnio. The worst of it
was that the results from the MRI take a day or two and the full amnio takes at least a week.
We got really frustrated when the imaging center told us that their doctor had looked at the MRI and
had written his report, but the report hadn't yet been sent to our doctor so we would have to wait
another day to find out the results. How ridiculous!
The early amnio results from the FISH
test came back clean with no maternal infections, no
duplicate chromosomes, no fetal protein and it confirmed that we had a boy. This was our
first sigh of relief. The MRI came back with no visible aqueduct leaving the third ventricle
and the diagnosis was aqueductal stenosis. No other abnormalities
were found on the MRI that would indicate anything like spina bifida or any other structural
problems. So we had our second sigh of relief. The third came when the full amnio came back
a week later and showed no other chromosomal problems.
The hydrocephalus can cause plenty of problems on its own and is certainly serious enough, but
at least we knew that he didn't have any other problems that had to be overcome in addition to
whatever the hydrocephalus did to him.
The Roller Coaster Ride
Once you get through the first tests, you realize that you now know everything that can be known
about your child's condition. The rest of the pregnancy becomes a waiting game. They scheduled
our next ultrasound for three weeks from the first. When we went in for that one (around 21 weeks), they told us
how much the ventricles had expanded and told us that it was getting worse. He was
still very optimistic about the outcome though and said that there was likely to be some
brain damage but we shouldn't get too concerned yet. He set up a meeting with a pediatric neurosurgeon for us so that we could discuss
the possiblity of early delivery and ask our questions. Your neurosurgeon is someone that you should
make very good friends with, because he or she is going to be the one that will be responsible for the
long term care of your child.
We still didn't know much
at this point about the whole condition but we started researching it in earnest.
This is where I first found the articles online about fetal surgery in-utero for hydrocephalus. We were
thrilled that there might be a treatment for this condition that we could do NOW instead of waiting
for after the birth. I began emailing and/or calling all of the big hospitals that even mentioned the
surgery. I have to give huge credit to these doctors and hospitals for getting back to us. Every
one took the time to reply and kindly tell us that this surgery was
no longer available. The Children's Hospital in
Philadelphia had a doctor that actually called us back and spent about a half an hour on the phone
with us telling us everything she could about hydrocephalus based on the information that we had sent
in an email. Our thrill at the possibility of treatment was gone as we realized that it was
simply not possible.
Then we got an answer back from a doctor in Brazil saying that yes, they still did the surgery there
and yes, they would be willing to do the surgery for us. We weren't sure that we were willing to
go out of the country to do this, but at least we were back on a track for doing something.
That also turned out to be a dead end as we couldn't get answers back from the doctors down there.
So we accepted that there wasn't anything we could do before the baby was born. The next thing we
focused on was the timing of the delivery. Reading stories from other parents of hydrocephalus
children and reading articles from various medical websites led us to believe that we should deliver
very early, as in between 32 and 34 weeks.
We met the neurosurgeon just before our next ultrasound (this is around 25 weeks).
We left his office feeling pretty upbeat,
he said that we shouldn't worry too much about the details of when he was born or how quickly he was
shunted because a few days or weeks here and there didn't really matter. He also told us that
he wouldn't really even bother to do an MRI until three months after the shunting. At the time we
took his laid back attitude as a sign that maybe things weren't so bad. We would later change our
minds about this.
After our meeting with the neurosurgeon we went in for our ultrasound. The results were not good.
The head was growing rapidly and our upbeat mood from our meeting with the neurosurgeon went away
pretty quickly. The head had grown 8 weeks worth in just under 4 weeks.
We mentioned our research about delivery times to our doctor and he said that he
would look into it and meet with the neurosurgeon and neonatologists (the people that take care
of the baby in the NICU) and they would determine the best course of action. He did indicate that the
rapid progression of the problem seemed to indicate delivering early. Another ultrasound was
scheduled for 28 weeks.
When we went in for the ultrasound at 28 weeks, all of the earlier optimism in our doctor was gone.
The head was already greater than the size for a newborn. He said that the outlook was grim and we
could expect a "poor outcome". As you can see on our info page, the words "poor outcome" were to
lead us to finding a new doctor. We couldn't get him to explain what that meant. He seemed
to think that one of the worst possible outcomes was deafness, completely bypassing the
possible severe motor function and higher intelligence problems that were likely. It was obvious that
his definition of "poor outcome" and ours was quite different. We tried to get him to give us
a range of things that he had seen in similar cases but he just kept saying that no one could tell
us what was going to happen with our baby and we should be prepared for the worst. When we asked if
there was any hope at all for anything approaching a useful life for our baby, he just said that
we could pray for a miracle. He also said that he really felt that we needed to wait until
36 weeks to deliver the baby based on the input from the whole team.
We left that day sobbing and more importantly we left looking for another
The Doctor Switch #2
We left our disastrous last appointment at our original doctor with an agreement that they would
set up an appointment at a larger facility at a university in central Virginia. To his credit, the
doctor set up the second opinion appointment and transfered all our records and took care of
everything including sending us directions.
This appointment went well. Their ultrasound equipment was a lot better and they were able to
get some better pictures. We spent an hour talking to one of their doctors and he started putting
things in some better perspective. He told us that with a case this severe there was an 80% chance
of moderate to severe damage and a 20% chance of normal or near normal functionality. This was
a bit easier to grasp than just expecting a poor outcome.
There was also one other added bonus to this trip. During our last ultrasound with our original doctor
I asked why we hadn't seen a profile of the baby in the last couple of ultrasounds. We figured that
they had become so routine that they were just focusing on the measurements. The tech said that
they couldn't show us a profile because the baby's head was too big and you couldn't see the eyes
or the full profile anymore. This had us a bit panicked and we had this horrible image of a
massively deformed child. The better ultrasound equipment at the university showed us that this
was not at all the case. We got a clear picture of a nice profile and while his head was certainly
big, it didn't really look that strange in the pictures. You could clearly see eyes, nose and mouth
with no problem. The head was just bigger on top and I'm not sure that if we didn't know that there
was a problem that we really would have noticed.
This doctor also recommended that we deliver at 36 weeks and said that he felt we shouldn't have
a problem delivering back home because they had a good reputation. We left resigned to going back
to the same plan we had arrived with.
The Final Switch and Hope At Last
Shortly after our last ultrasound at the central Virginia university, I received an email.
We banked our daughter's cord blood with the Cord Blood Registry. Every few months or so they
send you out a newsletter by email describing all of the recent advances in cord blood therapy so
that you will feel good about spending all that money on banking your baby's cord blood. Normally
I don't really pay any attention to them and just delete them. This one came in on a Thursday and
sat in my Inbox for days because I was busy with work. I finally got around to cleaning out
my Inbox that Saturday and something made me look at this one. There was definitely an angel looking
over my shoulder because I decided to read it.
The email highlighted two cases of brain damage in children caused at or before birth. The
I read was one about a two year old boy with cerebral palsy. He could only speak two words and had motor
control problems. His parents had banked his cord blood at birth and they gave some of the cells back to him.
He began to make progress very quickly with improved vocabulary and better motor control. The
was about a much younger child. This five month old baby had severe brain damage caused by a
lack of oxygen to her brain during birth. She was also treated with her own cord blood cells and
although she is much younger and therefore it is much harder to tell how much of an effect it had,
the child began tracking objects with her eyes for the first time after the treatment.
The second story was the most important for us because it contained the name of the doctor and where
the procedure was done. Her name is Dr. Joanne Kurtzberg and she did the procedure at
Duke University Medical Center. Through the wonders of Google and the internet I was able to
find an email address for Dr. Kurtzberg. I wrote to her about our case and asked if she thought
that cord blood therapy might be helpful. Within a few hours she wrote back saying that while
they had never tried it for hydrocephalus, there was no reason to believe that it might not
produce similar results to those seen with other sources of brain damage. There isn't any real
risk involved in the procedure, because we would be using his own cells.
The original email was sent on that Saturday. We sent back and forth a few more emails over the
weekend and we agreed to call her office on Monday. By the time I called her office at 10:00
Monday morning she had already talked to their chief pediatric neurosurgeon and their high-risk
OB and had them on board for giving this a try. Within a few days we had an appointment to
go down and meet with the OB/neurosurgeon/cord blood people for an ultrasound, a tour of the
facilities and to make a plan for the birth. This visit turned out to be a very long but amazing
day. They had a nurse that coordinated everything and took us from one appointment to the next all day
long. Not only did we see every room that either the baby or Mommy would be in while we were in
the hospital, but we walked out with a delivery date and a step-by-step plan of what was going
to be done with the delivery, shunting and testing for the baby. We met the neurosurgeon that would
be taking care of the baby for the next few years and the OB that would be taking care of Mommy.
Needless to say we are very comfortable with our decision to deliver at Duke. Even if it weren't for the
cord blood possibilities, it's very obvious that they have their act together and they know what they
are doing. The neurosurgeon was able/willing to talk about long term outcomes based on his own
considerable experience. This was a first for us and it set us at ease that he really understood
what we were going through and what information we needed. He couldn't tell us exactly
what was going to happen with our baby's outcome any more than any other doctor could, but
at least he didn't avoid the subject and told us what he did know.
The only negative mark I would give the people at Duke was that we had once again gone through the
bit where they suggested that maybe we should deliver earlier than 36 weeks and then when we
got there they told us that no, we had to wait. In the overall scheme of things though, we are
very happy with what we have seen so far. It will be a bit of a logistical hassle to deliver
3 hours away from home, but it will be worth it to know we did the best we could.
The ironic thing is that we will never know if the cord blood cells did any good. If he comes
out perfectly normal we can't say definitively it was the cells because there was a chance of that
outcome anyway. At the other end of the scale, no matter how poorly his brain function turns out, we
could always assume it would have been worse without the cells. They will have to do this procedure
on a lot of babies and see if the statistics for the outcomes change to know if they are having any real
affect. For us it doesn't matter how it comes out and whether or not the cells do anything, the point is
that both we and the doctors tried our best to give him the best chance possible and that's all we can ask.
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