April 2nd, I took over the case of a little five and a half-year-old girl from Russia, her symptoms started two years ago, and was diagnosed with NCL2 (Batten's disease) in 2008. The diagnosis was confirmed on Feb 15th, 2009 by the Enzyme Array (TTP test) in Seattle Children's Hospital (USA).

She suffers from seizures and has lost her motor skills and mental functioning.  She also suffers from congenital heart disease - Fallot's tetrad, she is very thin and week, so her rehabilitation exercises are quite limited. Before the treatment program she could not stand up, crawl, or sit up or keep her back straight. It is difficult for her to hold her head up. Her right arm and hand movement is impaired and therefore she can't clutch objects well. Her speech is little more than babbling. She can chew or swallow pureed food but frequently has trouble swallowing liquids. She experiences both good days and bad days. During her bad days her appetite, swallowing, and ability to get sleep, is very poor and she has bad reactions, where she often cries, screams, and has poor responses to external stimulation.

After the treatment her situation is stable, she sleeps well, she has a more positive mood, her screaming and crying has stopped and her appetite is very good (she always feels hungry, she ate 1000g per day previously, compared to 1800g per day now). She also drinks more than before (about 500ml per day previously, compared to 1000ml per day now). She now cries only when she is hungry or thirsty. She can hold a spoon in her right hand. When we help her sit up, she can hold her head up for more than one minute. Today, she finished the last stem cell injection. She remained happy and talkative throughout the injection process. She was smiling when we praised her for her cuteness.    

 Look! The smiling little beauty!