Rachel was born on a nice October day in 1993, and when we brought her home we thought, everything was just fine. Rachel was a normal baby and started to do the things all babies do. It was her 2nd Christmas when we thought it was odd that she didn't care about the presents. Then when she didn't walk until she was 19 months we were starting to wonder. But just before her 2nd birthday when she wasn't saying any words and started to do things with her fingers that looked like sign lanuage was when we started to wonder "what was wrong". At her 2 year check up her Doctor referred us to a pediatrician, and from there it all began. We were sent to an Austism reseach clinic and they perfomed many skill tests that I knew by looking at them, Rachel would not be able to do. After a long exhausting day we were sent home to wait for the results. When they finally came we were told she was not Autistic and Rett Syndrome was ruled out also, even though we had never heard of it. From there we had an MRI which showed nothing. We didn't know what to do, so we waited a bit and then the seizures came, 15 in an 18 hour period. This brought us to the hospital and then our first neurologist appointment. He ordered more tests which showed us nothing. Rachel was now on seizure medicine and they were under control but we still did not know why she was not progressing at a normal range. By this time she said no words and could not communicate with us in any way. Then we scheduled an appointment with a child Psychologist, it was July 2, 1996 a day we will never forget. We sent all of her medical and developmental history along with a video tape of Rachel to the Doctor, and she knew Rachel had Rett before we even got there. It was a devastating day, but now we had an answer and we could stop looking. Rachel was in the regression stage and was not a very happy little girl. She spent most of her days crying and screaming. She didn't like to go anywhere because too much stimulation was hard on her. After a couple of really hard years, she now enjoys life, she loves going to school and has many great friends. She has a lot of great people in her life who make her very happy.
Update~2009~ Rachel has grown so much since I created this website, she is 15 and in 9th grade. We've had off and on seizures over the years, her last one was on April 18, 2004. She is still on seizure meds but luckily they are under control. She has had scoliosis problems and has worn a brace off and on since 2003, she is on her 3rd brace now and the past 2 have corrected her curve down to single digit numbers which is great. She has the 'usual' Rett problems of reflux........thank God for Prevacid and constipation, thank God for Miralax :-). We have these problems taken care of for the most part. We found out that Rachel is lactose intolerant after an endoscopy in Jan. She has drank Pediasure for 10 years which is lactose free, so going to regular milk was grueling for her. Luckily the endoscopy showed the problem. She enjoys soy milk just as good so that is taken care of.
Rachel is still walking and quite well, although she gets tired pretty easily so we don't let her stroller get too far from us when we go places. |