Guest guest Posted September 21, 2000 Report Share Posted September 21, 2000 Jeanne, oh my goodness. I am so sorry I missed all this when you came on for support. I am also sorry that you're going through this. But I do know you have the Lord in your heart and you'll seek his guidance and our support. Caitlyn's docs are saying she DOESN " T have CHARGE? This is interesting. Especially since I spent an afternoon with both of you and seen the similarities between her and Brittney. However, I was truly amazed with her intelligence. She was only 2 at the time. Much love and hugs to you both. Amy genetics appt > > Thank you again everyone for your overwhelming > support. It's been most appreciated. Meg-- I am very > grateful when you take the time to respond so > unselfishly as you are here as a professional and not > as a parent. > > All of your advice is well taken. We are not going to > fret about it (at least try not to) until we get the > genetics report after her conference with other > geneticists. If after speaking with the ped. we are > still worried, we will go back to our original > geneticist who has a wonderful local reputation. > (Carolyn Bay, actually I think her reputation is more > than local). > > Anyway, Amy, what you missed...... > > We went to pulmonary 3 weeks ago with a new dr for a > second opinion. The previous pulmonologist blamed her > shortness of breath on her cardiac condition and her > cardiologist blames it on her asthma. So we saw a new > pulmonologist who immediately assessed the situation > as " pulmonary eventration of the diaphragm " and said > that Caitlyn is unable to breath out because of it and > therefore can't breath in fully and becomes short of > breath. I am a little confused because the info on > the 'net does not make sense with what he told me. > He feels it's due to aspiration and is ordering a > bunch new tests including another bronch. That means > another trip to the ole OR. After getting all the > tests results back he said we " would have some very > difficult decisions we would have to make " . I think I > would've cried in his office if I hadn't already been > raising a child with unrepairable debilitating heart > disease for the past 5 years. But I am rather numb. > > Then Monday we go to a new Geneticist hoping to be > part of a new chromosome study for which we were > turned down for. We had high hopes we'd be helping to > find the CHARGE gene. WRONG! Not gonna happen! > > Anyway, the geneticist ruled out CHARGE due to her > immune deficiency, hair disorder, and eczema. She > said that those issues go hand in hand with a DNA > repair disorder which leads to more problems down the > road for her as well as malignancies. Again, I think > I would've cried again there. Both office visits were > in and of itself tragic dx's and yet they are on top > of many other tragic dxs. > > But we are taking this one day at a time as I always > preach to all of you. We do have so much to deal with > anyway. New IEP mtg on Monday. We hope to get her > back into school in an inclusive program now that > she'll get her treatments. We're asking for a dual > enrollment --home and school-- due to her frequent > illnesses. Even with the infusions, with her heart > and lungs and so forth we feel she is more than > entitled to it. > > Amy--I'm so glad you're back on the list. Give Brit a > hug and kiss for me. > > Jeanne > > > > > > __________________________________________________ > Quote Link to comment Share on other sites More sharing options...
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