I just realized that it has been almost an entire month since my last post. Things have been busy to say the least. Since we got the diagnosis for Giovanni, life has been a total blur. I will do my best to bring everyone up to speed.
Shortly after his initial diagnosis following the MRI, we were contacted by his neurologist regarding the results. He said that he had a few of his colleagues, current and former, take a look at the images from the MRI. While they all agree on the periventricular heterotopia, they did not agree that what we were seeing was a simple choroid plexus cyst. The consensus was that the area in question was something called Porencephaly. Porencephaly is a very rare disorder of the central nervous system in which a cyst or cavity filled with cerebrospinal
fluid develops in the brain. Children with porencephaly may have poor or absent speech development,
hydrocephalus, spastic contractures, and mental
retardation.The prognosis for children with porencephaly varies according to the
location and extent of the cysts or cavities. Some children
with this disorder develop only
minor neurological problems and have normal intelligence, while others
may be severely disabled
and die before their second
decade of life.
The doctors believe that the Porencephaly developed because of a stroke that he had in utero...the think. If you remember, right around the 34 week mark, I was rushed to L&D as Giovanni was not moving and he failed two NST and BPPs in a row. We believe that this is when he possibly had a stroke.
Given everything that has happened, I would say that Giovanni is doing quite well. We have known from the begninning that something was wrong, but now we have some answers. He currently receives PT, OT, and speech therapy every week, and we have a special neuro educator that comes to our house every other week to check on his development. Right now his biggest challenges are speech, fine motor skills on his left side (from the left sided hemiparesis), and sensory integration. As far has his speech goes, well, there isn't any. We had a period where what babbling he did have completely subsided...for a period of about 6 weeks. His babbling is coming back, but he is where he was 5 months ago with speech. They have tried signing and the PECs system, but he is not taking to it. The therapist said he is lacking some major skills that are needed to develop his language so she is working on that with him. The physical therapist noted that he had problems with his feet and legs. When he stands and walks with his walker, his feet pronate, his toes curl, and he walks on his toes. She also noted that he has a bit of a left leg drag. He was fitted for foot and ankle braces last week and we are hoping that they will be here soon. They are going to reassess his walking once he gets the braces, and if his left leg still drags, they are going to give him a leg brace for the left side.
The other unfortunate part of this is that Giovanni has recently started having seizures. This is something very new for us so we are still trying to process it. With everything that has happened over the past couple of months, our neurologist at the medical center has decided that we need to be seen at Children's Hospital in Boston. The neurology group at the medical center has only seen one other case of heterotopia and they have never seen Porencephaly before. We are leaving for Children's next Monday. I am not sure what they are going to tell us but we are keeping the faith and praying like crazy.
I have mentioned this before, but I have a page on Facebook where I post frequent updates about Giovanni. The page is called Giovanni's Journey so feel free to follow it.