First of all I just want to thank everyone for all the care and concern that you have showed me, whether it has been via comments or private messages. My husband and I are hanging in there, but there is an awful lot to digest and it is going to take a while to adjust.
On Wednesday we went for the MRI of
his brain. Since he is so young, they had to put him under general
anesthesia to prevent him from moving during the imaging. The entire
process took about three hours. Once he was awake and the nurses
observed him for a while, we were free to leave where we would have to
wait until our follow up with the neurologist 12 days later to get the
results. At exactly 4:39pm that afternoon the phone rang when I noticed
on the caller ID that it was the hospital calling. I figured that they
just wanted to check in to see how he was doing, so I was a bit taken
back when I heard his neurologist’s voice. The first thing he asked me
is if I was home. When I told him I was, he asked me if I was alone or
if my husband was present. My heart immediately sank as I knew something
wasn’t right. He obviously heard the panic in my voice as he asked me
to sit down as we needed to talk about a few things. He then proceeded
to tell me that Giovanni’s MRI was abnormal. He said that he didn’t want
to go into great detail over the phone but I demanded information. He
gave me a quick rundown of the findings but asked us to come in so we
could go over everything together. Luckily we were able to get in the
morning of the 16th.
Giovanni was diagnosed with
periventricular heterotopia. It is a condition in which nerve cells
(neurons) do not migrate properly during the early development of the
fetal brain, from about the 6th week to the 24th week of pregnancy.
Heterotopia means "out of place." In normal brain development, neurons
form in the periventricular region, located around fluid-filled cavities
(ventricles) near the center of the brain. The neurons then migrate
outward to form the exterior of the brain (cerebral cortex) in six
onion-like layers. In periventricular heterotopia, some neurons fail to
migrate to their proper position and form clumps around the ventricles.
There are many subtypes of periventricular heterotopia, each having
different implications. The type that Giovanni has been diagnosed with
is posterior dominate periventricular laminar heterotopia, unilateral.
This condition is listed as a "rare disease" by the Office of Rare
Diseases (ORD) of the National Institutes of Health (NIH) as it affects
less than 200,000 people in the US population.
is affecting the right side of his brain, including the motor cortex.
With the area of the brain that this condition affects, most diagnosed
with this disorder (>90%) develop epilepsy, where in some cases the
seizures do not respond to medication and only drastic measures (frontal
lobe resection) can help control the seizures. While most with this
condition are of normal intelligence, there are some intellectual
challenges, namely dyslexia, reading/spelling difficulties, and
occasionally, the inability to speak. The other piece of this
is that there are several causes of this condition. It could be a big
fluke or there could be a genetic component that is causing this. If
this is genetically based there are several other problems that could
It was also discovered that he has a cyst type structure in his brain. It was originally thought to be a large choroid
plexus cyst in the lateral ventricles, however, this morning I received an email from the neurologist with a bit of a different theory. He said that after extensively reviewing the images with his team, they feel that what they are seeing is a porencephalic cyst. He said that there is no reason a region of heterotopia should be located next
to a choroid plexus cyst so they think the most likely thing is that the
cyst is not a choroid plexus cyst but rather a porencephalic cyst. This
type of a cyst is normally formed as a result of an injury to the fetus
during the later stages of development (2nd or 3rd trimester). One of the
most common things to cause such a cyst is small intrauterine stroke.
The circumstances of the pregnancy certainly would support such a possibility. What he
suspects is that Giovanni had a migrational abnormality (the
heteroptopia) which caused that region of the brain to be abnormal in
form and structure. Due to this, that abnormal region of the brain was
more prone to be affected by the rigors of the intrauterine environment
and suffered an insult - likely an intrauterine stroke - which caused
part of that region to degenerate and form a cyst. In other words, Giovanni, in addition to the heterotopia diagnosis also now has Porencephaly, an extremely rare disorder of the central nervous system (I will elaborate in a future post).
currently waiting for insurance approval for testing so we can begin to
get some answers. In addition to a repeat MRI, he needs to have an
EEG to get a baseline read and also to see if he is currently having
seizures, an echocardiogram as sometimes the heart can also be affected
by this, and the first series of genetic testing to determine if there
is a genetic reason for this condition. Once this testing is complete,
his local neurologist will be sending us to Children’s Hospital in
Boston as they have a physician there that is very familiar with this
condition. He is also scheduled for a video fluoroscopy on the 26th to
assess his swallowing to see if we can get some answers as to why he is
still choking. While we patiently wait for these tests to be scheduled,
he will continue to receive his private physical therapy in addition to
the therapies provided by Early Intervention. All we can do right now is
take things one day at a time.
If anyone is interested in following Giovanni's Journey, I have created a Facebook page where I will post updates about what is going on with him. Feel free to like and share.