The story of Lorinda
Coming from a family of six siblings, we have three rare diseases and I am the one blessed with all of them. fortunately there are treatments available but there is no cures as of yet. There are good days and there are bad days but you never know what kind of day you’ll have. Timing of treatments are very unpredictable as the results and side affects vary with each treatment. The waiting to get in for a treatment is also unpredictable. Hopefully the researchers, scientists, medical providers along with the pharmaceutical companies can find cures so that the patients can live a better quality of life. I have adductor spasmodic dysphonia which is a voice disorder for which right now it’s visits to a voice clinic every 2 to 4 months for botox injections through the neck into the vocal cords. Pigment dispersion syndrome is a genetic eye disease in which the pigments on the back of the iris flake off and float and can lodge in the optic nerve so an eye exam is not a simple process as if the optic nerve gets damaged its irreversible. The other is familial hypercholestemia which is a genetic bad cholesterol disease for which the statin medications don’t break up the bad cholesterol, putting one at a higher risk for heart disease.. There are some other meds now that are injectable though to break it up which I’ll find out about next week what the options are. There is always a fear when going to the doctor of what else can go wrong. You get to a point where you don’t want to be around others as trying to explain is difficult depending on the vocal phase you’re in and others often perceive you as being angry as its more difficult to speak as you have little to no control on how much air you need to exude to speak and you lack control of your tone, so I prefer to go out as little as possible. I applaud all the countries involved in joining together to meet with other patients, families, and care providers for their continual efforts in searching for cures. Together all things are possible!