![]() National Organization for Rare Disorders. Giovanni's Parents - Shannon and Gian Algarin. ![]() The service is available 24 hours a day, 7 days a week and is provided by trained Crisis Counselors. Bringing awareness to rare diseases can lead to funding, research. Thank you for reading our petition and for your signatures. Pierre Robin sequence Other Names: Pierre Robin syndrome skeletal dysplasia polydactyly Glossoptosis. October 8th is Giovanni's birthday and the reason why we chose that date for Pennsylvania's Schwartz Jampel Syndrome Awareness Day. Once we have this awareness date established here in our home state of Pennsylvania, we plan to take our cause to the White House. We hope to change that with this awareness day and hopefully inspire medical research on SJS. He has fought many medical battles including eight different surgeries, yet there are very few within the medical community who are actually aware of this condition. We are petitioning for this awareness day for our eight year old son Giovanni who we believe is the only resident in Pennsylvania living with this condition. ![]() ![]() By creating an awareness day, we hope to put a spotlight on SJS to advocate for better treatment options and potentially find a cure. Due to the rarity of this condition, many physicians are not even aware of SJS. Schwartz Jampel Syndrome is a rare genetic disorder that has less than 100 cases ever reported. Please help us make October 8th Schwartz Jampel Syndrome Awareness Day! What is Schwartz Jampel Syndrome? "Schwartz-Jampel syndrome (SJS) is a rare genetic disorder characterized by abnormalities of the skeletal muscles, including muscle weakness and stiffness (myotonic myopathy) abnormal bone development (bone dysplasia) permanent bending or extension of certain joints in a fixed position (joint contractures) and/or growth delays resulting in abnormally short stature (dwarfism)." (NORD, 2016) ![]()
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