Wait... before you read... you should know that there are three forms of severities of HPE; lobar, semi-lobar and alobar. With lobar, the one Dylan's been diagnosed with, being the least severe. The range of impact from HPE vary greatly. I have talked online to mom's who's children are severely delayed and have very little motor abilities. Okay, on to the letter...
"A diagnosis of Lobar Holoprosencephaly was confirmed"
"Based on our clinical experience wih children with HPE we are able to share some preliminary information with families regarding certain brain structures and how they may affect a child's future progress. Our research findings indicate 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. (Dylan has mild 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 (5 lobar & 2 semilobar patients), and only 5 patients have normal upper extremity function (3 lobar & 2 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 (5 lobar patients & 3 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. (Dylan does not have this problem.)
Almost 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. (Dylan does not have this problem.) Sleep and temperature regulation problems, seen in one third of patients, were also associated the hypothalamic fusion. (Dylan does not have this problem.)"
The two things I see that stand out are that they indicate Dylan doesn't have any Endorcrine or difficult to control seizure activity and she does/did. Infantile Spasms are one of the most difficult to control seizure types. I am not sure where they got their information, though... at the time of the MRI she didnt' have these problems. I might e-mail them, but I might not. I don't know how they will use Dylan's information but if she's included in a study, which I did say she could be, then they should have the most accurate information. Maybe they were talking about at birth because Dylan was producing enough growth hormone at birth to not cause any alarm.
On the second page they grade the degree of seperation from a O (normal) to a 3 (complete non-cleavage) and Dylan got a O in Lentiform and Thalami. It appears the only grades they gave her that wasn't normal was for the Caudate which says "1 (<50% or abn medial loc)" and for her vessels which says "1" follow by some gibberish that doesn't make sense to me. They also grade the pituitary if the imaging allows and it looks like it didn't allow since that area with a few others have been left blank. There is also an area for Olfactory Sulci (which I would unserstand to be her olfactory nerves) and the Olfactory bulb which both say NORMAL! YAY! So this smelling thing might not be a problem? So there it is! I can't wait to count Dylan in the few that can walk! Come on little one! I am so glad that we have this resource to get more information.
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