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 2005-04-29 Appointment With Dr. C Yesterday Emily had an appointment with her neurologist. Every other Thursday, he comes to Cape Cod Hospital in Hyannis so we went there instead of in to Boston.We talked more about the Tuberous Sclerosis diagnosis, and I have a little more information about...about the whole thing I guess. The good news is that it is highly unlikely that Emily will get an "worse" than she is. She has what she has and thats that. The slimmest of possibilities still exist that something could change but basically, he feels extremely confident that she will continue to have seizures (well not have them but she could if she went of meds) and behavioral type problems, but that nothing else will come of this (breathe a sigh of relief). Her diagnosis is borderline...meaning that because her MRI look very similar to one of a patient with TS, and because she is missing an amino acid in the TS2 gene, it is likely that she has TS, but a very slight case. The doctor reccomended that Ryun and I have genetic counseling, which is a fancy term for bloodwork to determine whether or not either of us have a problem area in either the TS1 or TS2 gene. If we do, then we will have Katherine and Julia tested as well. He will be sending us a lab sheet today, and we can go locally to have the blood drawn. The results will be mailed to the lab and God willing, we should have results in about a month. This leads me in to the bad news, or I guess what has the potential to be bad news. If Ryun and/or I have TS, and neither of us have ever shown any symptoms of it, what does this mean? It means that this disease is a disease that you can have and show no symptoms, or you can have and show some symptoms(Emily is an example of that) or you can have and show severe symptoms(seizures, tumors, kidney problems etc). This means that she will pass this on to her children, and, even though her symptoms are on the mild side, her children's could be severe. He told us about one family who had a severely affected son who in fact died as a result, a mildly affected daughter like Emily, and two older sister who had no symptoms at all. The only good thing about that, in an attempt to look at the bright side of things, is that she is young. I am hoping that kids are at least 20 or so years in her future should she decide to have them and medical technology and knowledge advances every day. Maybe by then their will be a cure, or they will somehow be able to pre-determine how her children will be affected before she decides to have them. I am hoping beyond all hope that Ryun and I are fine. I don't know how I will handle knowing that we passed on something to our children that could ptoentially affect their lives and drastic ways. I realize this is not something we have any control over. I would still feel guilty though. Perhaps the best news of the day was that since she is doing so well, we do not have to go back for 6 months! This is the longest stretch between appointments we have gone so far. YAY! 0 comments so far |
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