A couple months ago I sent Vinny's MRI results to The Carter Centers for Brain Research in Holoprosencephaly and Related Malformations for a second opinion. A few days ago, I received the results. For those of you not already familiar with HPE, it is a birth defect that occurs during the first few weeks of life in the womb. It is a disorder in which the fetal brain does not grow forward and divide as it is supposed to during early pregnancy. There are 4 different types of HPE - Alobar (severe), Semilobar (moderate), Lobar (mild), and Middle Interhemispheric Variant. Children diagnosed with HPE may have a small head, excessive fluid in the brain, variable degrees of mental retardation, epilepsy, etc. Vinny has been said to have a small head. Facial deformities are often present including cleft lip and/or palate, close set eyes, and flat single-nostril nose, just to name a few. These are mild forms of abnormalities. Much severe forms can also occur. (Vinny does not have any of these.)
The cause of HPE is unkown.
Now onto the results. The following information was supplied to me by the report itself. There may be some words that you may not understand, but for the most part you will get the jist of it.
The Carters Center confirmed that Vinny was diagnosed with Semilobar Holoprosencephaly. Based on their clinical experience they were able to share some preliminary information regarding Vinnys brain structures and how they may affect his future progress. They first report that children with basil ganglia fusion may have severe motor impairments. Mobility, upper extremity function, and language are all significantly related to the degree of basal ganglia fusion and thalamic fusion. (I know you are probably thinking, what is this and how do I say it.) Anyway, Vinny is classified as having mild/moderate fusion. Of 68 patients in their study (13 alobar patients, 43 semilobar patients, and 12 lobar patients), only 7 patients can walk with or without assistance (2 of them being semilobar patients), and only 5 patients have normal upper extremity function (2 of them being semilobar patients). Children with basal ganglia fusion also often have language impairments. Of 35 children over 1 year old, a quarter of them can speak words ( 3 of them being semilobar patients). Seizures also occur in about half of HPE patients. The presence of cortical malformation was associated with seizures that were difficult to control. THANKFULLY, Vinny does not have this problem!!! Whew!!!
The report also states that two-thirds of patients require g-tubes for feeding. Endocrinologic dysfunction was noted in over two-thirds of the patients with all having at least diabetes insipidus. The severity of endocrine abnormality was related to the severity of the hypothalamic fusion. THANKFULLY, Vinny does not have this problem!! Sleep and temperature regulation problems, seen in one third of patients, were also associated the hypothalamic fusion, and again THANKFULLY, Vinny does not have this problem!
So there it is. I have to say that these results are bitter sweet. On one hand it was nice to see that there is HoPE for Vinny when it comes to walking and talking. It was also WONDERFUL to find out that he will not experience seizures or have any of those other issues mentioned. On the other hand, I can't lie and say that I didn't deep down hope that the results would come back and they would say "this child does not have HPE...what where the doctors thinking" or at the very least he would be diagnosed with a milder version.
Either way, it is what it is and no matter what any doctor or any report says, we will love Vinny just the same. He is special in so many ways and we really are blessed to have him in our lives.
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