stand for mya
Organized by: Susan Pleiman
Hello my daughter mya is our sweet, kind smart, beautiful, hilarious and fun-loving 8 year-old daughter. Last week on Thursday, March 10, 2016, Mya was diagnosed with lupus called Niemann-Pick Type C-1 Disease (NPC1). Only 500 children have NPC1 in the world and there only 100-150 diagnosed cases in the United States. The average life-span of children who go untreated is between 12 and 20 years of age. Most children with NPC1 will die in their mid-teens. As you can imagine, when we were told that she had inherited this horrific genetic disease we were heart broken and quite frankly, our worst nightmare was realized. We want to save our daughter and we need your help to do so. This disease has been described as childhood Alzheimers. NPC1 is a genetic disease where harmful amounts of cholesterol accumulate in the brain. This accumulation impairs normal brain function and results in neurological degeneration. If left untreated, Belle could suffer from seizures, dementia, ataxia, and cataplexy. Eventually, sufferers of NPC end up in wheelchairs, unable to speak, and unable to recognize their loved ones. Mya began showing symptoms about three years ago and for the last three years we have consulted with specialist after specialist after specialist. It was finally recommended that we do the Whole Exome Genetic test by our friend and one of mya physical therapists, which we did before Thanksgiving last year. We just got the results back last week. We have begun the process of putting a treatment plan together and we have a huge mountain to climb to even begin management of this disease for mya. Physically, emotionally, financially and spiritually this mountain seems unsurmountable at times. However we are committed to doing whatever we need to do to save our precious 6 year old daughter. The best doctor for mya is in Chicago. She is a specialist in Niemann-Pick Disease and we will need to visit with her every other week for the next 52 weeks to get a non-FDA-approved drug that is Belle's only hope at stopping the progression. Because the drug can only be obtained for "compassionate use", the process could take up to five months. The medication costs 160k per year, and mya will need it for the rest of her life. We are humbly asking all of our friends, and friends of friends, as well as family and extended family for help. We need any kind of support you can offer. Spiritually, emotionally, financially, etc. We will not be able to do this alone and we are desperate to help save our daughter from this dreadful and hideous disease. Thank you in advance for your kindness, your love and compassion.