Usually when someone asks why James was 5 weeks premature or why he is still in the NICU, I just say, “He has a lot of problems.” But if you want the whole story, here it is.
James has been diagnosed with a constellation of problems, some of which are clearly related and others whose relationship is unknown. The cause of his problems seems to be a genetic mutation(s). If he has a syndrome (a set of related conditions), it has not been identified yet.
His biggest issue is a structural brain abnormality called semilobar holoprosencephaly (semilobar HPE). This means that around his third week of gestation, his brain hemispheres didn’t separate completely, so they are fused in the front of his head. He is missing some central and frontal brain structures because of that. Semilobar is the medium strength version of HPE (fully fused is alobar, and slightly fused is lobar). He does not have the “classic” midline facial characteristics of HPE, so it seems to be an unusual kind.
The fusing of his brain will almost certainly result in developmental delays physically and mentally, but the extent is unknown right now. He may have problems with coordination, walking, talking, and higher-order thinking. His involuntary, brainstem-type functions are not affected.
One of the brain’s structures that didn’t form well because of the HPE is his pituitary gland. The posterior pituitary was damaged from the get-go, and the anterior pituitary failed about a month after he was born. Since the pituitary is the “master gland,” other parts of his endocrine system were affected as well. The adrenal glands work but do not receive signals from the pituitary, and the hypothalamus and thyroid are being watched right now. [Note on 9/1/07: his thyroid is failing, so those hormones will be replaced from here out.]
The lack of antidiruetic hormone from his pituitary gland also resulted in diabetes insipidus, aka “water diabetes,” or the inability to concentrate his urine. Without hormone replacement James would lose too much water through frequent urination.
All of James’s hormones from the failed glands are being replaced: he gets DDAVP for his antidiuretic hormone, hydrocortisone for his cortisol, and growth hormone. When he reaches the time of puberty his hormones for those changes will also have to be administered.
All these problems so far go back to his HPE diagnosis.
The second challenge James was born with is severe pancreatic insufficiency, which includes lacking digestive enzymes to break down and absorb fat, proteins, and some starches, as well as diabetes mellitus, aka “sugar diabetes.” Like Type 1 diabetes in adults, James’s pancreas does not produce insulin, so he has to have that replaced as well as his other hormones. Although this is an endocrine problem, the doctors don’t see a clear connection between it and his other pituitary-based issues. It does explain why he was born so small, or growth-restricted (IUGR), because insulin also acts as a growth hormone in the fetus. This problem seems smaller than the HPE, but his blood sugar has been harder to control than expected, so it was the largest issue to deal with in the NICU. [Note: In addition, the lack of the proper pancreatic enzymes needed to break down and absorb his food (diagnosed 10/11/07) has contributed to slow weight gain as well as volatile blood sugars. The enzymes are being replaced as of October 12, 2007.]
The third abnormality James was born with was microtia, or small ears. His left ear is small and cup-shaped, lacking the complex folds of a normal ear, but he can hear well from it. His right ear is a little triangular stub that is lower on his neck than the other, and its ear canal seems to be closed, although there are some inner-ear structures visible on his MRI. This ear has not been tested or examined closely yet.
Finally, James’s mouth opens asymmetrically, the right side of his lower lip seeming to be less mobile than the left. That side of his lip often “tucks in” to his mouth, which creates a very cute pout when he is about to cry. Also, his tongue is short, and he has a hard time putting it down. It sort of sticks up at the roof of his mouth. I have never heard a term for this or a theory of its relationship to his other issues, but it does making feeding him a challenge. He has to use a special Haberman nipple, which is longer than a usual one.
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