“Hello, my name is Emily Schiavoneand I am 9 years old and live with my little brother Saverio, my mom and dad and canine fur baby, Xena.
At the age of 2 years old I was diagnosed with Gaucher’s Disease Type 3. This is a slowly progressing disease that is caused by a defective gene that prevents my body from producing sufficient amounts of an important enzyme. This disease has decreased my life span significantly. My daily symptoms include: seizures, skeletal irregularities, eye movement disorders, cognitive problems, mental deterioration, poor coordination, enlarged liver and spleen, respiratory problems, and blood disorders. I receive weekly in home infusions of an enzyme replacement; which does not cross the “blood-brain” barrier meaning that it has no effect on the severe brain involvement I suffer from.
In 2016, another rare genetic disorder was found called: Multiple endocrine neoplasia type 2 (MEN2A). MEN2A is a rare hereditary cancer syndrome, affecting approximately 1 in 35,000 people. It is associated with a 98% development rate of medullary cancer of the thyroid. This will require a thyroidectomy once the cancer levels rise. Last year, I started another treatment (IgG weekly in home sub-Q infusions) which aids in boosting my compromised immune system preventing typical illnesses that I cannot afford to go through. In 2017 & most recently, I was diagnosed with two other rare conditions; Mast Cell Activation Syndrome & Amplified Musculoskeletal Pain Syndrome (AMPS).
I am the only child globally who endures these four unrelated diseases. I have 16 teams of doctors at The Children’s Hospital of Philadelphia, and doctors in Fairfax Virginia to manage these rare diseases.
My healthcare has taken a tremendous toll on my family. Medical expenses are extreme and include copays for all the teams of doctors, extensive medication co pay upkeep, therapies, physical and mental support, pain management, and automobile fuel costs to and from Philadelphia, which varies from 3-6 times a month. I am now using the support of a wheelchair which now requires my parents to get a vehicle that can support my transportation. My parents’ expenses exceed $2,000/month and they do not meet the criteria for state help.
On top of my personal needs, my younger brother, Saveriois 6 years old and suffers from Autism Spectrum Disorder (ASD). His behavior is quite extreme and the medications must be altered to accommodate his progression and growth. He too endures many hours of therapy.
My parents set up a Go Fund Me campaign a few years ago to help them with the medical costs and many wonderful people have helped us to date. Sadly, we are still in need of help and due to the extensive medical care, my dream home is in foreclosure.
I want to thank you for taking the time to read my story. My Aunt and Uncle; Nicole and Doug Murray have organized a charity golf event to benefit my foundation, “Happy Sun Heart” that is scheduled for August 27th, 2018 at Castlewood Country Club in Pleasanton, California. My condition prevents me from attending in person, but I do hope to be able to Skype or Facetime at the event.
Eastern Medical Center has sponsored hole number 11 and will be giving away a session of Active Release Therapy to 3 lucky winners in a raffle! Good Luck!
Happy sun heart foundation
Castlewood country club- the hill course
707 Country Club Circle
Pleasanton, CA 94566