Shortly after typing up the last update we were told our little Katie Kat had tested positive for human cytomegalovirus (HCMV) in her urine. Side effects include deafness, blindness, an inability to control her muscle movements, and a buildup of salt in her brain (calcification) which "decreases IQ levels dramatically" according to wikipedia.org and Katie's doctor. She would be moved to a quarantined area which would mean gowns, masks, no touching, and absolutely no pregnant visitors. Treatment is administered centrally which means a lumbar puncture would be done and side effects range from seizures, blood clots and fatal pulmonary embolisms to headaches and vomiting. It's also a carcinogen and mutagen. So that's a bummer, but God continues to work in mysterious ways. HCMV is also highly infectious and although it presents as a common cold in most people, in unborn children it results in, well, Kathryn. So, Cia, it's a really good thing you didn't come to visit on Thursday. Short of almost going into labor, what else would have stopped you from coming? Robyn and I continue to pray for you, and hope you stay pregnant all the way to term. Katie's doctor tells us that HCMV could possibly explain all of her conditions, but it's probably not the only cause. The MRI of her brain shows a very symmetrical enlargement and the calcification in an infected brain isn't usually evenly distributed. Like salt buildup anywhere else, it tends to be clumpy or concentrated in one area. Katie Beth passed the retinal exam yesterday, which means if we decide to treat for HCMV she probably won't suffer blindness, and she looks at me when I talk so, though they haven't done the hearing tests on her yet, I'm sure she's not totally deaf. As for muscle control, what newborn has discernible muscle control at five days? So we'll have to wait and see on that one. Her neck, arm, and core muscles are still "severely underdeveloped," but today she was able to turn her head a little bit on her own, which I think is a good sign.
That lead to a more informational discussion of what her syndrome might be and what it might mean. I had asked her doctor about an article I read last summer about amyotrophic lateral sclerosis (ALS) which affects the white matter in the brain in a similar way to what Katie Beth's MRI showed, and the neurons which originate in the brain and reach into the trunk of the body. ALS took my mom when I was 12, and I've been wondering all week if it might be related. He assured me it's not and that, although they present some similar symptoms, ALS and what KB have are caused by unrelated things. The syndromes they're testing for are storage conditions, similar to tay-sachs which is most common in Ashkenazi Jews. All of the syndromes in this family are fatal, and the leading candidate for Kathryn right now is zellweger syndrome. That gives her about six months (common) to a year (best case) to live. There is also another possible candidate, which would give her a life expectancy of about two years. That's not as much time as we had hoped to have with our daughter, but we're thankful for the time we have.
Originally posted to http://www.carepages.com/carepages/KathrynElizabethSchlichter
That lead to a more informational discussion of what her syndrome might be and what it might mean. I had asked her doctor about an article I read last summer about amyotrophic lateral sclerosis (ALS) which affects the white matter in the brain in a similar way to what Katie Beth's MRI showed, and the neurons which originate in the brain and reach into the trunk of the body. ALS took my mom when I was 12, and I've been wondering all week if it might be related. He assured me it's not and that, although they present some similar symptoms, ALS and what KB have are caused by unrelated things. The syndromes they're testing for are storage conditions, similar to tay-sachs which is most common in Ashkenazi Jews. All of the syndromes in this family are fatal, and the leading candidate for Kathryn right now is zellweger syndrome. That gives her about six months (common) to a year (best case) to live. There is also another possible candidate, which would give her a life expectancy of about two years. That's not as much time as we had hoped to have with our daughter, but we're thankful for the time we have.
Originally posted to http://www.carepages.com/carepages/KathrynElizabethSchlichter
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