Sunday, August 18, 2013

MRI Results

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.

This condition 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 arise.

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). 
 
We are 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.

Giovanni's Journey

 

10 comments:

  1. Wow -- that's a lot to take in -- I can't imagine what you and your husband must be going through trying to understand and wrap your arms around all of this. Please know you are in my thoughts and prayers as Giovanni goes through further testing and you get further information.

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  2. you are in my thoughts. i truly hope that that you get answers that you need to make sense of this all. i have followed you for sometime and am inspired by your strength

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  3. What a frightening and devastating turn of events. I am so very sorry.

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  4. Sending many prayers, so sorry you got this news

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  5. What a scary diagnosis. I hope you get all of your questions answered. HUGS to all of you!

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  6. I am so very sorry to hear this - thinking of you and your family.

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  7. Such a heartbreaking post to read. I wish the best for you, Giovanni, and his doctors.

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  8. Krystyn - Wow. I can only imagine that your head and your heart must be reeling. I am so sorry that you and your family has had this news, with all its unknowns and scary implications. Thinking of you and your family. Giovanni is not lucky to have these challenges, but he is truly lucky to have you as a mother to advocate for him and help him deal with these conditions.

    Mo

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  9. Wow that is def a lot to take in! Sorry to hear about that, but I know you will well take it all in stride. Remember, God doesn't give you more than you can handle!

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  10. All of that is just an overwhelming amount of information to take in. Many hugs.

    I want to share one thing that a neurologist told me that we've held on to all this time: "I'll tell you would could and maybe should happen based on what I see on his brain scan and in what he's doing. Your jobs are to prove me wrong. I want nothing less." That is how I view information we get from doctors...they can't possibly know for sure what is in store for our kids. They can only make educated guesses, but even still, they are just that. They are guesses.

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