Hi. I don't really have much time for writing and even though I would like to be a part of forums I hate trying to remember passwords, but I know how helpful it is to hear that others have struggled with similar symptoms and experiences. All these years I've gone through it alone because I don't really know anyone else with spinal cerebellar degeneration. I'm the only one in my family. I did meet two other persons at a summer camp for people with disabilities but they did not stay in touch or talk much. I was diagnosed with spinal cerebellar degeneration in 2003 after 4 years of going to the doctors. It was the 4th neurologist who looked at my same MRIs and said that my spinal cord was thining and there were problems with my cerebellum and probably the pons in the base of my brain. The SCA genetic testing didn't identify a code for me yet. Gluten intolerance and allergies runs in my family. I was also sent to psychiatrist first. The neurologist who diagnosed me told me he was sorry for how the other doctors mistreated me and what I've gone through because he knew right away that I had a neurological problem based on my speech. In addition, because it is rare only older doctors would know about it because a doctor may only see one or 2 cases in his whole career. And even after the diagnosis when I had a seizure after another doctor shone a light in my eye after I told her not to shine it in my eye she sent me to a psychiatrist to rule out conversion disorder too.
My muscles are also sensitive to temperature extremes of hot and cold, with the heat be in the worst. This also caused of delay in the diagnoses because even crossing the street were walking up curb cuts was like a friend watching me said “climbing a mountain.” But in the air-conditioned doctors offices I initially walked just fine. But I was walking over 2 miles a day prior to this! Then this led to difficulty climbing stairs. Then walking just a few blocks would have me so fatigued that I'd have to take long naps and still sleep through the night 10 hours. I had chest pains prior to the problems with my legs. It took 10 years of abnormal tests to finally get a diagnosis which is not considered serious it's just that similar to spasms and the rest of my muscles my arteries in my heart also spasm, especially when I get too hot or too cold. My digestive muscles haven't been much better. When I was given medicine by the cardiologist for the spasms along with the usual baclofen the horribly painful spasms in my belly and bladder also went away for at least decreased to a bearable level. I get burning nerve pain in my arms and legs but also don't take narcotics because I'm sensitive to them to make give me horribly dizzy and nauseated even at a very low dose.
It's been 11 years since all of this started and I like to say to those with no diagnoses who may be scared, although I went from walking to using a walker to using a motorized wheelchair in 4 years, I have not lost much more function since then. I can still walk some, sideways in my home. They said I have proximal weakness which I believe means that the muscles in my thighs aren't able to tell my knees to lift up my legs and similar happens with my arms. I too am frustrated with doctors and have stopped pretty much trying to explain the different things that happened to me to doctors especially specialists. They only go by old textbooks and test protocals. It's like I can't feel my legs in the inside or placement of my feet, yet there is an almost constant burning sensation and I can feel doctors poking and scratching my legs on the outside. So one doctor wrote that I have full range of motion. My left side of my body is weaker and number than the other. My hands get very briefly temporally paralyzed when they get too hot. But I have been living a very full life and recently earned a Master’s degree. I only had seizures at night a few times because I make sure I get enough sleep at night and drink enough water.
I do hate going to the hospital because they do not know what to do with me even though I have felt in distress. Recently I have been having problems breathing during the day. I’ve used a BiPAP machine at night for sleep apnea since 2005 when I started gasping for breath whenever I would fall off to sleep. In the emergency room they admitted me to the hospital for only a part of a day because they could not see my distress during the day although my ribs and chest was sore and my nostrils were flaring. This is all scary to me because I do not want to have to have to use a breathing machine during the day. I’m hoping a pulmonary/sleep disorder doctor, who works with patients with neuromuscular diseases, will help me during the night so that I do not have trouble during the day. The appointment is in May. I think I did have an infection because I feel better since the ER visit in January. But still get short of breathe with fatigue in the evening. So in my research about symptoms and frequency of respiratory problems in those with neuromuscular diseases and need for support led me to this forum.