EMILY'S JOURNEY PLEASE HELP!
Emily's Journey
Emily is my daughter. She is an 11 year old girl whose eyes beam with excitement in her love of life. She loves to participate in everything. Emily copes with multiple disabilities but she is a fighter and determined to be seen like everyone else. Some of the disaabilities she fights to overcome include: Athetoid Cerebral Palsy, Mitochondrial Encephalopathy, Urea Cycle Disorder, Cerebellar Atrophy, High Glutamine levels.
We have a new crisis.
We recently found out that her Cerebellum (The Cerebellum in the lower part of your brain that controls your muscles in your body and your speech) is smaller then the average size. This is a very rare case as her genetic doctor has sent letters/emails all over the continent and they have never even heard of what is going on with Emily . Emily has developed a VERY HIGH Glutamine in her blood and In April 6, 2017 , we received the test results. Her Glutamine levels were off the chart at 2500. A healthy level is between 40 -800. If not lowered the glutamine levels could result in Emily's brain dying.
Emily has to take the medication called PHEBURANE SODIUM PHENYLBUTYRATE GRANULES, A bottle lasts 8-9 days at the unbelievable price of $1600.00 each! She has begun treatment. It is working. The levels are coming down slowly. It will be a long process. It is also hoped that with the lowering of the Glutamine levels it may be possible to grow her cerebellum. Or at least try to "wake it up". We are already seeing improvement in her clarity in speech. Her muscles are gaining a little strength as well. She is walking a little with our hands to support her and able to use her walker. She is now not crossing her feet anymore when walking and is walking down the halls with both hands on the wall and walks.
We are a 1 income family and cannot take over 5,000 dollars a month out of our income to pay for these treatments. We are desparate for some financial support to sustain the burden over the long term or even over the next month. We hope you will support us in the many strategies we are using to support Emily in her journey.
