Simra underwent a series of thorough genetic tests such as karyotype analysis, mitochondrial (DNA and muscle biopsy), oligoarray test, SMA, VLCFA, 5p deletion FISH (Cri-du-chat), Subtelomeric FISH, Prader-Willi, Killian Pallister (Skin Fibroblast), Lysosomal storage disorder (Skin Fibroblast). All these test results were normal. We researched the genetic tests recommended by the doctors on the internet and read about them in various journals such as American Journal of Medical Genetics. This would help us decide if the tests were beneficial and if there was possible prognosis. Although a thorough genetic work up was performed, there were no answers to the cause of Simra's condition.
Simra's EEG indicated seizure activity. She also had weak muscle tone - a condition known as hypotonia. In order to manage the seizure activity, she was prescribed phenol barbital. We had to be careful with the dosage of this medication to minimize side effects.
We were fortunate to have a home health nurse who really took care of Simra with dedication and was there for us whenever we needed her. Also, we really appreciate all the nurses and doctors who took care of Simra during hospital visits. These individuals became part of our family and guided us through our journey with Simra giving us hope, faith and confidence.
Since Simra had a weak swallow reflex, she was G-Tube fed. At first we were nervous about handling a G-Tube. It turned out to be easy and manageable. Around 5 months , Simra's G-tube was fitted with a Mickey button. This was exciting as we take her out to various places without the G-tube being visible.
In order to increase her muscle tone, we diligently performed physical and occupational therapy on her. Her therapist showed us some exercises that we could do with her. Her muscle tone improved and she was able to move her hands and legs even more. She had just started lifting her head.