Julia's Story Julia is a beautiful, funny, sweet spirited little girl. She embraces life every day with such a positive attitude, it's impossible not to smile just by being around her. On October 7th 2011 she was diagnosed with Niemann Pick Disease, Type C, or NPC at the age of 11. NPC is an extremely rare (about 500 diagnosed cases worldwide), neurodegenerative disease with no cure and very limited & costly treatment options. NPC is very unpredictable, but it is always eventually fatal. Julia was always a unique child from the day she was born, February 29th, 2000, our leap year day baby. When she was 7 months old her pediatrician noticed her spleen was slightly enlarged. I was told it was nothing to worry about, she was just getting over a cold, it would go back to normal. Julia began walking @ 13 months old but she was very clumsy & fell frequently. Her doctor reassured me that this was normal. I had begun to worry though, I began to have a feeling that there was something wrong with Julia, but years went by without a significant change in Julia. She was such an easy going & happy child that it was easy to believe that she was perfectly healthy & my worry was totally unwarranted. Then when she was around 3-4 years old we watched her one day doing forward rolls across the living room floor. When she would come back up to a sitting position, her eyes would still be rolled in the back of her head for a few seconds. It had also come to our attention that Julia was a very restless sleeper & often walked & talked in her sleep. Once again her doctor brushed my concerns away. When Julia began kindergarten she had a hard time keeping up with the other students. She struggled & struggled each year until we finally decided we had had enough. Recent testing in school showed that her IQ was declining but we couldn't explain why. By the time she reached 3rd grade we were spending 4-5 hours a night doing 1 page of homework & when we were through you could show her the same problems over again & it would be like she had never seen them before. She retained none of what we were trying to teach her. I went to her pediatrician & demanded a referral for a sleep study & to see a neurologist. Over the course of the next 10 months Julia endured test after test, a sleep study, an MRI, an EEG & numerous blood tests. With each test we grew more frustrated as each one came back "normal". It had become obvious to us that there was something wrong with our precious daughter, but the doctors were unable to determine what it was. Finally one of the blood tests showed that Julia's liver enzymes were very slightly elevated. The doctor tried to say this was insignificant but @ my prodding referred her to a liver specialist & a liver biopsy showed a storage disorder. They then referred us to a geneticist who ultimately tested & diagnosed her with Niemann Pick Disease. Julia is now taking a drug called Zavesca. It will help slow the progression of the disease. It is prescribed off label as there is no FDA approved medicine in the US for NPC. Insurance is covering this but the cost of the medicine is over $33,000 a month.(Update: It has since risen to $56,322) No that is not a typo, that is the actual cost of the medicine.Thankfully, insurance is covering the medicine but we are still responsible for our yearly out-of-pocket maximum expense. This cost is $5,000, so we know each January we have to come up with $5,000 to get her 1st shipment of medicine & the rest of her medical & medicine is covered for the year. We expect our combined cost for medical, travel & related expenses to exceed $8,500 every year. Julia is also now a patient in a clinical trial @ The National Institutes of Health in Bethesda, MD. This requires a 3 day visit every month. During each visit Julia undergoes a lumbar puncture to receive the study drug. She takes this all in stride, as she does with everything life throws at her. Julia continues to teach us every day how to appreciate the little things in life, we are learning that it's the little things that are really the big ones we need to hold onto. The silver lining is that none of what she has endured has changed her spirit. Julia is still the same happy care free child she has always been, & that is truly a blessing. We plan to fight this disease with everything we have & then some.