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)
Schwartz Jampel Syndrome is a rare genetic disorder that has less than 100 cases ever reported. Due to the rarity of this condition, many physicians are not even aware of SJS. By creating an awareness day, we hope to put a spotlight on SJS to advocate for better treatment options and potentially find a cure.
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. 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 hope to change that with this awareness day and hopefully inspire medical research on SJS. Once we have this awareness date established here in our home state of Pennsylvania, we plan to take our cause to the White House. October 8th is Giovanni's birthday and the reason why we chose that date for Pennsylvania's Schwartz Jampel Syndrome Awareness Day. Thank you for reading our petition and for your signatures.
Giovanni's Parents - Shannon and Gian Algarin.
Reference: NORD. (2016). Schwartz Jampel Syndrome. National Organization for Rare Disorders. Retrieved by: http://rarediseases.org/rare-diseases/schwartz-jampel-syndrome/