Tuesday, July 23, 2013
so we went and saw the geneticist today. lexi has 3 duplications of her chromosomes. the first one is 2p21 involving six3gene. we dont think this one is affecting her because she doesn't have holoprosencephaly. the second one is 7q32.1 incolving the flnc gene. that one would explain her muscle weakness so they did blood work to make sure we arent dealing with a muscle myopathy. 3rd one is 15q22.2 involving the gene tpm1. now that one causes cardiomyopathy so we now have to have an echo to make sure her heart is ok. honestly we have answers but we also have questions as well but im glad they found something finally
Thursday, July 18, 2013
so this morning i got a phone call from lexi the nurse at the developmental dr office. she asked me if i knew lexi was referred to genetics and have a appointment on tuesday. i said no and asked why we was being referred once again to this genetecist. lets back up and give u a little back ground. we saw this genetecist like 2 yrs ago and they couldnt find anything so we moved on. in january of this year we saw a gentetics dr down at the children's hospital because they test for more than this dr. so when i asked why we was being rereffered i had all reasons to. the nurse said its because of the results from the chromosomal microarray test they did in june. i almost forgot they even did the test because honestly figured if i hadnt heard anything by now then the results was normal. guess not so now on tuesday we will find out what they found. im kinda nervous but anxious. hopefully its helpful news and something that will make us go oh wow thats whats wrong with her. i will post the answers when i get them on tuesday
Monday, July 1, 2013
so last week was very eventful. on tuesday i went to give lexi her meds threw her tube and the tube came out. i then put it back in and filled the balloon and it stayed. well sometime between tuesday night and wendesday morning the tube came out when she was sleeping. i tried to put the tube back in again but couldnt find the hole to put it in.most likely because she wasn't relaxed but anyways we went to the hospital and they said they didnt have any mic-key buttons and couldnt put her old one back in. so they put a catheter in and we went to the the gi dr. got there and the gi dr didnt have any mic-key buttons either so we scheduled the mic-key button to be reinserted today. it went good actually went in better than the gi dr even thought it would go in. it took less than 5 minutes to place it and she was back with me in 20. we didnt get to go on our trip however but hey i guess thats life with a special needs child. i do have to say i do love her gi dr hes very sweet and caring. when he came in before taking her back he asked me what happened on thursday and i told him her g tube was infected and they put her on antibiotics. he looked and said wow it looks much better. so im glad she has him as her gi dr. all i have to say is what else is gonna go wrong lol i really wanted to go on our trip but i guess theres always next month to go.