From May 2022, three patient helpers were made available to families living with rare diseases. They can be reached for consultations on the information telephone line 0800 300 97 and in-person at the Center for People with Rare Diseases.
Suzan Genova is 35 years old and works as an accountant. She is happily married and the proud mother of two twin girls. One of her daughters has a rare disease - isovalerianic acidemia. Here's what Suzan says about herself and her willingness to help other people with rare diseases:
"To be able to provide the best treatment, rehabilitation and social environment, fate decided to give me the role of personal assistant to my daughter. Her illness is very serious, but with the right diet, treatment, rehabilitation and social environment, she has a real chance to lives the life of a healthy person. We do the best and believe that this will happen. I am a positive, emotional and temperamental person. Everyone tells me that everyone has a mission in life - this is clearly mine, to support families with rare diseases. To help my daughter stand on her own two feet, to live a normal and healthy life and to help other people affected by rare diagnoses, to give them courage and smiles, so they can move forward".
Natalia Pamukova is from Stara Zagora, and was diagnosed with the rare disease - Pulmonary Arterial Hypertension.
Here is what Natalia says about herself and the mission of being a patient helper:
"I am here to share my long-term experience with you. I got sick in the distant year 1987, but I was diagnosed in 1991 with SLE (Systemic Lupus Erythematosus). In 2004, I was operated for CA of the thyroid gland. In 2012, I was diagnosed with PAH (Pulmonary Arterial Hypertension). Since then I have been a member of various patient organizations to share experiences and be part of the community. I am the living example that with immense optimism, positivity, with the love of relatives and friends and with the support and with the help of doctors, any disease is manageable. I will be here with all my experience and knowledge, gained during my long and so far successful journey in the fight against diseases and the health system! Good luck!"
Iva is a professional with many years of experience in supporting families with rare diagnoses.