My name is Samantha, and I have Single Large Scale mtDNA Deletion with Chronic Progressive External Ophthalmoplegia. These are progressive. Growing up I was in and out of hospital for various reasons, and seemed to be unwell on a monthly basis. Abdominal Migraines, IBS, unknown illnesses that no doctor could find a cause or cure for. I always knew something was wrong with me. It was only when I went for a routine opticians appointment that the Optometrist noticed one of my pupils was larger than the other. I was referred to an Ophthalmologist and that was when I was told that my eyes did not move fully or correctly. That was the start of eight years of invasive and non invasive testing, seeing various specialists and consultants, before finally having a muscle biopsy and then referred to the experts in Mitochondrial Disease in Newcastle.
I suffer with muscle weakness, severe fatigue, digestion issues, pain, chronic migraines, nausea and vomiting, RLS, and the muscles that control my eye movement and eyelids are weakening with severe ptosis of my right eye. This is especially the case when I am extremely exhausted. I am unable to walk very far, or without holding onto someones arm to help with my balance. I find everyday activities and chores difficult and exhausting. Im desperate to be a mum and it was for that reason that I continued undergoing test after test so that whatever condition I had would tell me if I would pass it onto children. Im still not a mum but Im hoping that one day that will change. Unlike many people with Mitochondrial Disease I didnt inherit this from my mother or my maternal line. It was sporadic and started with me when I was in the womb. My life has changed and will continue to change. That is why I want to raise awareness and bring Mitochondrial Disease to the forefront of peoples minds. It should be as well known as any other debilitating and serious condition and whilst there are some Professors and Doctors who work tirelessly to research and find ways of treating or preventing Mitochondrial Disease, there are far more who know nothing about it. I want to be an advocate for this disease; a voice to be heard, and to educate people on something that most do not know about. Raising awareness is the key to funding much needed research and hopefully one day the research that we have funded will finally find a cure. I want to know that I have had a hand in directly contributing to finding a cure for Mitochondrial Disease.
By supporting The Lily Foundation, a charity dedicated to finding a cure and supporting people like me, you can help me make a difference.