My name is Eduardo Freire Pinheiro. I'm Brazilian, 56 years old, and I live in São Paulo - Brazil. I have been married for 29 years to Marilda, my friend, my partner in life, and now, besides all this, my dedicated caregiver. We have a 13-year-old daughter, and we are a happy and quiet family.
I have a degree in Economics from Mackenzie University and have worked for 21 years in a payment solutions company (joint venture Fidelity USA / Bradesco Bank) and currently hold the position of Controller.
I have been on disability from the company for 8 months, dedicating myself to a physical rehabilitation program, with walking and weight training, to minimize the impact of the disease and maybe even gain some strength and mobility. The results are slow but real. Currently, I walk with a walker and for longer walks, I use a power wheelchair.
I am a carrier of the VCP gene mutation and have Inclusion Body Myopathy and Paget’s disease, diagnosed in 2011 and 2013, respectively. Recently, I did an MRI of the brain and, fortunately, no changes were found that could indicate the possibility of developing Frontotemporal Dementia.
Speaking about my family’s history and about this disease, which unfortunately torments our family: in 1974, my uncle (my father's older brother) began to have progressive muscle weakness that ended up with him being unable to walk and climb stairs, and he became reclusive in a bed for 3 or 4 years. He died in 1980, at age 60, without a clear diagnosis of what he had.
Some years after my uncle presented these problems, it was my father's turn (3rd child of 4 siblings) to also feel muscle weakness and the same limitations as my uncle. Likewise, the diagnoses were confusing. After a biopsy, done by a specialist at the time, he was diagnosed with Polymyositis. My father died in 1985, also at age 60, a victim of a heart attack.
My aunt (my father's older sister) and my other uncle (my father's younger brother) had no symptoms of the disease and died at age 89 and age 88, respectively.
We thought that we were free from this disease, as we knew almost nothing about the disease and that it was genetic. In 2002, my brother began to feel the same symptoms of my father and uncle. We were terrified, and after many consultations with specialists, he was diagnosed with Inclusion Body Myopathy. Unfortunately, today he is restricted to a bed, has been diagnosed with Paget’s disease and frontotemporal dementia. He is 58 years old.
In 2009, it was my turn to start feeling the same symptoms, and with this extensive family history, it was not difficult to imagine that I was also carrying the same disease, VCP gene mutation. So, my sister (younger than me), currently 53 years old, sought help at the Hospital das Clínicas in São Paulo, and we did our first genetic test. My sister has a normal life with early symptoms of the Inclusion Body Myopathy. She has no Paget’s Disease and no Frontotemporal Dementia.
I learned about the work of Dr. Kimonis in 2013 through clinicaltrial.gov, which featured a study from the University of California - Irvine, on IBMPFD. I got in touch with her, by email, and we've been talking to each other ever since. I had the pleasure of visiting her in Irvine in 2015, where we were very well received. I did medical tests, a muscle biopsy and established a friendship. In September 2017, we had the honor of receiving her in São Paulo - Brazil, where she met and examined my brother and sister.
I congratulate Nathan Peck for the initiative, as well as, Jeannie Macaluso, for nominating me to the Board for Cure VCP Disease, Inc. I want to dedicate my next years to helping everyone in this fight against a powerful enemy (IBMPFD) that will not easily defeat us.