- CASE FILE
My daughter is a mystery to doctors. She has been seen by numerous doctors and even been to NIH in Maryland. Yet still no answers.
ABOUT THIS CASE FILE
It started when she was just old enough to crawl we noticed her right thigh muscle was larger than normal. At first we just thought maybe she just used that keg more but it continued to get bigger. We were referred to childrens mercy where this journey began. Doctors at first didnt seem very concerned but when it just kept getting larger they began to worry. She had a biopsy done and numerous tests. Nothing really made since to them. Her biopsy showed her muscle tissue was necrotizing and her muscle enzymes were crazy high indicating something was wrong but doctors were baffled. We were sent to see neurologist, rheumatologist, she has had muscle electrode testing, MRIS, cardiologist tests, blood work of all kinds and still no answers. Eventually doctors here thought we would get more answers of we went to maryland to NIH. There she had gene testing and they ran other tests but once again we came home know no more than we did when we left. Recently she had another MRI which did not bring any more answers.
All the while she is slowly getting worst. She has muscle weakness. Spasms daily,pain, and trouble walking a lot. She falls frequently and often has trouble controlling emotions. It's a daily struggle for her. By looking at her you.may not know what pain is behind her eyes but I know. She is often happy, enjoys playing and being active. I just hope that she will always be able to play and those things wont be ripped away from her. Its difficult to stay optimistic going through this for so long. She will soon be 4 now and my hope for her is that soon we can give her answers and help that she really needs. A cure maybe and her life to be normal because she doesnt even know normal.