I was diagnosed with #Fibroelastosis of the heart when I was three days old. My parents lost their first child to the same disease a few days after her birth. Endocardial Fibroelastosis (#EFE) is a rare heart disorder that affects infants and children. It is
characterized by a thickening within the muscular lining of the heart chambers due to an increase in the amount of supporting connective tissue (inelastic collagen) and elastic fibers. This leads to an enlarged heart. At birth my parents were told that I won’t reach the age of 5 and I’m 43. My parents always told me I can do anything other kids are capable of doing this helped me to be persistent and positive. This
also helped me to be focus on keep going and never give up.
In 2016 I was diagnosed with Myasthenia Gravis after about 6 years of visits to various doctors / specialists who said my symptoms where related to the long term meds I was taking for my heart condition. Being diagnosed with this illness was a scary experience for me. I have never heard of this before. Rare Disease SA had provided me with support and information that helped me to have a better understanding of what I’m experiencing. When I’m facing a challenge it is great to touch based with someone who has the same disease since we speak the same language.
Some of the frustrations when having a rare disease (or 2J)when I go to a new doctor and I need to explain what is #Fibroelastosis or Myasthenia Gravis ,when people tell me I do not look sick battle for the correct medication to be approved by medical aids I had them tell me you too old to take this medication ·people assuming you anti-social since when you are not coping you are quiet / you lazy when you don’t partake in activities / you have been out partying when my eye droop or my speech is impacted. I’m fortunate to have an amazing husband that helps me a lot on good and bad days and he is supportive. He encourage me to tackle everything and at least try it doing it. My parents are also a great support.
In my current team at work I have some amazing colleagues and manager who ensures I listen to my body and take it easy when needed. Also I have some amazing friends in the office that will speak up when they feel people are not treating me well. I still work full time at the biggest cellular company in SA and aim to keep on doing it for as long as possible. In my spare time I have an artisan bakery for dogs this is a positive and encouraging part of my life. Due to my health challenges we do not have children but my two Staffordshire bull terriers are an integral part of our household. Despite me not knowing what the future hold for me health wise I remain positive. Thanks Rare Disease SA for being amazing!