Well, as some of you know, I have been trying to get a diagnosis for six years now. In my quest, I sought out a new PCP that told me I probably had Rheumatoid Arthritis. I was skeptical because my symptoms weren’t lining up. Especially, the one where I was falling all the time. Because of my skepticism, I followed up with a Rheumatologist for a second opinion. He told me that he was confident in saying that it was Lupus, not RA, because my blood work showed some markers for Lupus. But, he wanted me to see a Neurologist as I had more muscular problems than is typical with Lupus. So, I accepted it, but in my gut and from listening to others, I still felt uneasy as some of my symptoms didn’t line up. In particular, results from an EMG and a Muscle Biopsy I had had 6 years ago. I would mention this to my Lupus group and no one knew what I was speaking of.
At this point, I decided to hunt down a Neurologist I liked and I had 6 years ago. He had opened his own practice in Houston, but fortunately had kept all of my records from when I had seen him previously. He has been going over my records, contacting previous Doctors, and doing more tests…in particular genetic testing. This was done to confirm and to back up my muscle biopsy results from before. So to make a long story even longer, I finally found out yesterday that I do not have Lupus nor RA, as was previously suggested.
After 6 years and more poking, prodding, tests, and paperwork, I FINALLY have a confirmed, definitive diagnosis. I have Autosomal Dominant OPMD - Oculopharyngeal Muscular Dystrophy. Unfortunately, there is no cure and no meds to take to make it better. Fortunately, there are things I can do and get that can make things more manageable. Funny, I felt relieved in finally getting that definitive diagnosis, but obviously very sad and scared at the same time. Apparently, my Father had this as well. It rips my heart apart every time I think of him going from Doctor to Doctor trying to find out what was wrong. He gave up and just accepted what he had never knowing what each day would bring. He lived with people telling him that it was ‘in his head’ and family making fun of him. My grandfather was dealt this very same hand and became a recluse because of it. I wish they were both still here to tell them that what they were experiencing was real.
Dr. Blum, my doctor, is an absolutely amazing, funny, compassionate, and brilliant Doctor. He spoke with me and the hubbers for over an hour yesterday. He told me that he would help me all that he can and do whatever he needed to do for me. He is also going to get me set up with the MDA. Jesus has answered our prayers and has truly blessed me/us with him.
I am also blessed with the most wonderful, loving, compassionate, giving husband any woman could ask for. He is my rock and protector; my biggest supporter through all of this!
Sorry this is so long, but I felt compelled to let you all know what was going on. Thank you to all who have been so supportive and especially for your prayers.