I felt that the best way to start this blog was to take you back to my
original post I put on our family blog before I had Liam & Logan. A lot has obviously happened since this time
& a lot of these questions have been answered & his diagnosed changed back to Semi-Lobar HPE, but it really captures how I
was feeling at this time.
You can also view the original post here
Oct 30
th, 2011
I think this post will explain why I haven't been the best "mother to
be" with keeping you guys updated w/ all the wonderful changes that happen
when you are expecting your First Set of Angels into your Home :) It was hard
for me to post on the Blog and "pretend" like things were going
wonderfully when Indeed we were being faced with some big Challenges but I
wasn't quite ready to tell these things to the World (my Blogger world that
is), well now I am ready... (this post will be long and I am putting it
more into a journal format so I have it to remember by later)
Timeline: 20 wks of pregnancy – Aug 23rd
We had been going into the Dr every 4 weeks for Ultra sounds & at our
20 week UltraSound we were excited to see our Little Boys again and confirm
that they were still boys (which we had discovered at our 16 week appt).
Everything seemed to be going smoothly and the Ultrasound Tech was doing
all the needed measurements as we Ooo'd and Aww'd at the little guys.
After a little while she said that she needed to go get the Dr because there
were some "concerns". I will never forget how I felt and of
course fear came across me. What were these Concerns? and so of course I
asked and all she said is that it appeared that Baby A had a Cleft Lip
and there was something with the brain and with that she left. When
she left Mike and I just looked at each other and were of course
very confused and concerned. No one wants to hear that there is something
wrong w/ their Baby and the thought that it dealt with the Brain made me
even more nervous.
When the Dr came back with her he explained that Baby A had a Cleft Lip and they were not able to locate the Corpus Collosum in the brain. Of
course I didn't quite understand everything that was being said right at that
moment but all I did understand was that something was Wrong and even if
the Dr hadn't said much all I needed was to hear the tone of his voice to
understand the seriousness of the situation. After that we met with the Dr more and were advised that we needed to have another Ultrasound with a
Specialist @ the Hospital and after they got the results it would be
decided as to how my care would continue because this was not a common thing to
see. Our Dr felt that we would need to transfer our care to the University of
Utah but one thing was for certain - our Journey of starting our family
continued to be a bumpy one & again my Strengths were tested...
The next day we did see a specialist and they confirmed what our Dr had
seen. The baby had a Cleft Lip and he had a Cleft Palate and the
section where the Corpus Collosum should be was not visible. We then were
scheduled to see a Brain Specialist at the University of Utah to get a more
detailed understanding of what this all meant.
Of course we did our Research and were comforted in the fact that this
was not a matter of life or death and the Cleft lip and Palate were
repairable, it would just take a series of Surgeries through the course of our
baby's life. The condition of the Corpus Collosum is called Agenesis of the
Corpus Collosum were there is no treatment you just have to treat the symptoms
(The Corpus Collosum is the section of the brain that acts as the communication
center between the left and right hemispheres of the brain).
Time Line – 21 weeks of pregnancy, Sept 1st
When we went to the University prepared to ask our Many Questions something
else was discovered during the Ultrasound. Our baby was diagnosed with
Holoprosencephaly (it took me a few weeks to even learn how to say this word).
Great! ANOTHER new thing to learn and this is something that I was not
Prepared for! I had no questions!! All I could do again was cry and try
to comprehend the things that we were being told. We even had a Genetic Counselor
come speak with us because in these types of "cases" it is common for
there be a Chromosome Defect and if there was it was called Trisemy 13,
where there is an extra Chromosome 13 and they consider that to be Lethal
(meaning the child would not live much past birth if he made it to birth). Then
we were told that if he did have this Chromosome Defect and if the babies
were Indeed Identical then Baby B would have it as well and so far the
thing that was keeping me somewhat optimistic was the fact that there was
another Baby in there that appeared to be Totally Healthy and now that
was being taken from me! Of course I felt Robbed!!!! There is a test we can do
to see if they have this Chromosome defect but the risks outweighed the positives
for us so we turned it down. It was even brought up the option of doing a
"selective" birth, where we would abort our Baby A and that was
of course OUT OF THE QUESTION! Why were these Dr's talking to me like I was an
adult??? I felt like a little kid trapped in someone else's body expected to be
Mature and know how to deal with these things.
Here is a definition of what Holoprosencephaly (HPE) is. At this point they
had put our baby into the “SemiLobar” category
****
HPE is a disorder characterized by the failure of the prosencephalon (the
forebrain of the embryo) to develop. During normal development, the forebrain
is formed and the face begins to develop in the fifth and sixth weeks of
pregnancy. HPE is caused by a failure of the embryo's forebrain to divide to
form bilateral cerebral hemispheres (the left and right halves of the brain),
causing defects in the development of the face and in brain structure and
function.
This brain malformation can range from mild to severe and is classified into
four types:
(1) Alobar (severe) - where the brain is not divided and there are severe
abnormalities.
(2) Semi-Lobar (moderate) - where the brain is partially divided and there
are some moderate abnormalities; where there are two hemispheres in the rear
but not the front of the brain.
(3) Lobar (mild) - where the brain is divided and there are some mild
abnormalities.(4) Middle Interhemispheric Variant (MIHV) - where the middle of
the brain (posterior frontal and parietal lobes) are not well separated.
HPE is a condition without a cure or a standard course of treatment.
Treatment for HPE is symptomatic and supportive. Children with HPE can also
have secondary conditions such as mental retardation, epilepsy, diabetes
insipidus, pituitary and hormone disorders, movement disorders and spasticity,
gastroesophageal reflux, respiratory disorders, and hydrocephalus.
*****
At this point the Dr's couldn’t tell us much as to whether or not they think
our baby would live a long life they just said that children with Semi-Lobar live
alot longer then children with Alobar (with this condition children have a 95%
chance of not surviving past birth). So the answer to your question is
"Yes I was Freaking out!"
After that Appointment our Medical Care was transferred to the University of
Utah and that is where I will deliver. We were having appointments every
2 weeks to check on me and they continued to schedule ultrasounds for
every 4 weeks w/ an MRI scheduled for Oct 20th so the Dr’s could get a much
closer look at Baby A’s brain.
During these ultrasounds it was also found that the fluid in Baby A’s sack was
on the High side which can cause Preterm labor as well as put pressure on my
diaphragm making it hard for me to breath. This would continue to be watched
closely, BUT Baby B was still looking Healthy and besides the already
visible concerns w/ Baby A he was growing right on track as well and all
of his organs appeared to be working well and he always had a Strong
Heart Beat. We were happy/relieved to see this. Now the question was, does our
Baby have the Chromosome Defect and what exactly is our baby going to
struggle with in his life and the worst thought of all was “Will our Baby
A ever come home with us?”
The Dr’s couldn’t answer this for us. Children in these cases are all so unique
and different that until he is here we really won’t know how he, himself,
will do.
Timeline – 28 weeks of Pregnancy, Oct 20th
This was the day of the MRI and where we were supposed to also meet with
a Cranial Facial specialist to discuss the process for repairing the palate
and lip and the chances of our baby being able to take a
specialized bottle for his feedings or have to be fed through a feeding tube.
Sadly, the specialist was in a car accident and was not able to meet with
us.
We got our MRI results a week later and this is what we found out:
It was confirmed that our little Baby A does indeed have Holoprosencephaly BUT
they moved him into the Lobar category. If you remember they thought he was in
the SemiLobar category which is under Alobar (which is the most Severe) but
luckily Lobar is even lower on the spectrum and is considered to be a
more "milder" form of this condition. Here is the defination of this
type:
Lobar (mild)--where the brain is divided and there are some mild
abnormalities (there is a well developed interhemispheric fissure however there
is some fusion of structures).
Although it says "mild" we still needed to acknowledge that there
is a defect to the brain and so how our little baby will do is still
unknown. Every baby is unique and the way they progress is completely
dependent on them and their own abilities.
The Dr also confirmed that the Corpus Collosum has not formed correctly
and is partially missing, but again we are glad that part of it is there
so hopefully it can be strong enough to make up for the section that is not
there. Also when they reviewed the MRI results they looked for signs of a
condition called "Heterotopia". The way the Dr described this to me
is that sometimes the brain's fibers can be somewhat "tangled up" and will also affect the functioning of the brain but again we were
Blessed and they did not find signs of this. The Dr said that although
this is good, it still cannot be ruled out because the brain continues to
develop into the first few years of a child's life so this will need to be
something that they will continue to check after he is born.
She also referred me to check out a website for The Carter Center - if you
would like you can check it out at
www.carterdatabase.org/hpe. There are
some articles you can read and also links to other sites that work w/ HPE
(Holoprosencesphaly).
So right now this is where we stand. I have an appt on Thursday & we
can discuss even more what was found on the MRI but I do feel strong that our
little baby A will come home with us & because of his brother, he will
learn much from him and will impress the Dr’s & ourselves with
everything that he will be able to do despite his disabilities.
Honestly through the course of all this I have experienced many different
Emotions including Anger, Sadness, Jealousy, being inadequate, but most
importantly Comfort!! And I really owe this Comfort to our Heavenly Father
and for our Wonderful Friends and Family who have been praying for
us. I know that this is helping us to Press Forward and is helping our
babies to grow and be as strong as they can be.
I do find myself, once again, asking why?? Why are we going through this trial?
But if there is something I am certain of it is that we will have a Little
Angel amongst us and although it frightens me not knowing what will
happen and of course doubting my own abilities, I also feel blessed to
get to have him be a part of our lives. And we are so blessed that we have two
babies coming because I KNOW his brother will help strengthen him and is
probably helping now even though they are still inside of me.
I hope that this post doesn’t leave you having Pity for us or feeling any type
of Sorrow because we are still early in all of this and honestly my
pregnancy has been great! I feel great (although I am already measuring almost
at full term) and we really have a great support group and are blessed
to be so close to a hospital that is able to take care of our Baby the way he
needs to be, I just felt ready to tell my Blogger Family what was going on. I
will continue to keep you updated and I hope that the news continues to
get better but I really appreciate you all and appreciate you continuing
on this journey with me and my family :)
We Love You!!!
