I count because I am paving a way for parents to understand how their children feel on a day-to-day basis with MPS. I count because I am a voice to MPS. I count because I am a person and not just MPS, and I am a living, free spirit who can become anything she wants to be! I count because I AM Erica Thiel, and I AM NOT defined by my MPS disease!
Favorite Hobbies:
My favorite hobbies include writing and expressing my feelings to others in the hopes of making a difference to the world in some small way, either to fellow MPS patients and families or to some small aspect of our population, and just expressing my feelings in a way that allows me to feel better and keep on living freely without letting MPS become who I am. My very favorite hobbies include talking on the phone, shopping, reading, going to movies with friends and just relaxing!
Proudest Accomplishment:
My proudest accomplishment has been learning to advocate and stick up for myself in the past few years. I used to be a very shy, not outspoken person and believed that if a doctor said something was right then that was the
way it really was. I now have learned that I am my own best advocate and that it is okay to speak up for myself, to be my own voice and to stick up for what I believe is right when it comes to my own body and mind. My other proud accomplishments have been my pursuing writing further and speaking. I have done a few things over the past year that have included speaking in front of a group of physicians, patients and parents which I was really proud of and also just recently attended a Lobby Day in Washington to advocate for needs for adult patients with Congenital Heart Disease.
MPS Heroes:
Stephanie Ginty (Genzyme Case Manager), LuAnn Weik (GC) and Theresa Kump (Study Coordinator) because they have always allowed me to express myself whether I am having a bad day or a good day, a great experience or a tough time. These three have always supported me in every step I have taken. When I have wavered into a path that seemed unsafe, they have set me straight again and always, always most importantly listened and guided me. They have been my providers throughout all of this, but more importantly they have been more like friends and mothers guiding and protecting each step and thing I’ve done. My Sister Sara is also my hero because she has been my best friend throughout my life and has been a supporter of me throughout my trials and all of the times when I have just needed a friend to talk to. She has listened to me, hasn’t treated me any differently and, best of all, I am still her little sister so we argue and fight and go about our life just as if I didn’t have this silly thing called MPS. She is my very best friend and one of my MPS heroes because I know that even when I doubted that there really was something underlying going on, before I got the diagnosis, she was there to push me along and was a voice to say that something just wasn’t right.
Words of Wisdom:
Something that Steph and LuAnn told me and that I have learned myself over the past year. “One day at a time, one week at a time is the best way to take things and especially when you are going through a new diagnosis. Sometimes you just don’t know if you can face another tomorrow but you can always take today for what it is worth and make the very best of all that you have now.” Steph told me, “Remember, life is a journey with a past, present and future but for now all we have is today.” And I firmly believe we should try to make the very best we can with each day we are given!
Personal Diagnosis Experience:
I was diagnosed at the age of 21 yrs of age, just 2 weeks shy of my 22nd Birthday. I spent many years seeing many specialists including dozens of doctors in dozens of different areas of medicine. I had always seen a pediatric cardiologist for Congenital Heart Valve disease but throughout the years, this also progressed into what we now know is the secondary MPS valve disease. I saw a rheumatologist, several neurologists, hand specialists, cardiologists, my primary doctors, internists, orthopedists and a genetics team before I ended up just kind of giving up that there was any one defining diagnosis.
I just ended up switching cardiologists due to worsening heart problems at the age of 21, when the new doctor suspected, again, that something wasn’t quite right. He ran further testing which showed restrictive lung disease along with an abnormal chest wall shape and tachycardia and heart valve disease. I had previously had carpal tunnel releases, and tonsils and adenoids removed, as well as hernia repair. After seeing a pulmonary specialist who ran additional testing, I was referred to the new genetics team at the Children’s Hospital, where I then underwent the testing for MPS diseases.
My ACHD cardiologist had explained to me what he thought was going on but that he wasn’t sure what type it was or even if there was a treatment available, just that he had seen the symptoms before in other patients while he had been in his training. About a month later I received the call from my then genetics counselor that the test results had come back positive and I did, in fact, have MPS I - Scheie syndrome. A week later I met up with the genetics team again and met my new genetics counselor and geneticist and learned all about this weird sounding disease and what we would have to do in order to set up treatment.
About 3 months later I started enzyme replacement therapy (ERT) and now I am here, 9 months later. Although ERT hasn’t been all smooth sailing, I am appreciative to have the treatment and am very grateful to my genetics team for all they have done for me. They have been wonderful and even despite some disagreements and occasional stresses, we work well together and make a good team I think. ERT is a blessing and the diagnosis, although hard to take and accept, has really been such a gift. It has brought so many wonderful things, opportunities and people into my life! I often struggle daily with many challenges and symptoms which sometimes seem unbearable but I also wonder if I could ever give up the great new friends and opportunities I’ve made and had.
