Emily's Happy Sun Heart Foundation

Emily is , a 11 yr. old Princess who was diagnosed with Gauchers Disease Type 3 at the age of 2 years old.  Gauchers disease is a disease caused by a defective gene that prevents the body from producing sufficient amounts of an important enzyme that plays a critical role in the complex process the body uses to remove and recycle worn out cells. It involves many organ systems, such as liver, spleen, lungs, brain, metabolism and bone marrow. She receives Enzyme Replacement Therapy  weekly in my home  to help shrink the spleen and liver.  Most recently, she was diagnosed with  another rare genetic disorder named Multiple endocrine neoplasia type 2.  MENS2A, Multiple endocrine neoplasia type 2 (MEN2) is a rare hereditary cancer syndrome, affecting approximately 1 in 35,000 people. It is associated with the development of: Medullary cancer of the thyroid (MTC) Pheochromocytoma (a tumor of the adrenal gland and neuroendocrine tissues) Other abnormal growths of endocrine tissues  Most individuals are diagnosed with MEN2 because they or a close family member develops thyroid cancer, THOUGH IN HER CASE  THIS DISORDER WAS NOT A INHERITED CASE WHICH MAKES IT EVEN MORE RARE While thyroid cancer is relatively common in adults medullary thyroid cancer (MTC), one subtype of thyroid cancer is rare.  With our diligent advocacy another disorder called Mass Cell Activation Syndrome was found. Mast Cell Activation Syndrome (MCAS) is one type of mast cell activation disorder (MCAD), and is an immunological condition in which mast cells inappropriately and excessively release chemical mediators, resulting in a range of chronic symptoms including anaphylaxis or near-anaphylaxis attacks.  Then last month,  Amplified Musculoskeletal Pain Syndrome (AMPS) was found. This is a very painful medical condition that can cause pain anywhere in the body, with Emily, it is her legs and arms which is why a wheelchair is needed. These episodes of pain can be intermittent or constant, can affect the whole body or be localized to one area of the body or affect just a limb. Whenever it occurs, the degree of pain children with AMPS experience is more intense than one would normally expect. . Her ongoing  care of teams of doctors include but are not limited to::, Metabolic, Endocronology, ENT, Immunology, Thoratic Oncology, Infectious Disease, Psychology, Psychatric, Neurology, Nephrology, Cardiology, Hematology, Optamology, Gastroentology, and Optomology, all are located at Childrens Hospital of Philadelphia where I visit multiple times monthly,  and have specialists in Fairfax Virginia. In addition, she will be getting weekly infusions to boost my immune system so in hopes I do not get sick with colds, my fatigue gets better, and upper respitory infections scale down from frequency. This is extremely rare  to have the only child in the world who has these 4 unrelated  disorders combined which makes it almost impossible to predict any outcome. If you feel called to help in any monetary amount  to HSH Foundation for my ongoing medical care we are grateful. Her care is steep and requires lots of *medicines*,  tests, and  provider specialists which insurance just does not cover. An example of some of the Medical expenses include copays for all the teams of doctors, daily medication upkeep, therapies, physical and mental, pain management, and gas costs back and forth to Philadelphia. We are in need of a bigger vehicle due to the progression of her conditions. It is with great appreciation for the time you have taken from your life to read about our princess.  Sharing this with your friends is the best gift we may receive, we have a monumental responsibility and it is hopeful we can get  support. Thank you,   Love ♡~ Carla & Anthony Schiavone, Parents of Emily Filomena Schiavone