FINALLY...a Diagnosis!

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. :slight_smile::heart:

How wonderful to finally have the answers that you have been seeking!

Obviously, it's not awesome to have disease in the body, but with the proper diagnosis - it's only up from here!

HI, I hope you can still get this as your post was several months ago. I saw that it took you so long to get a diagnosis and I have myself been trying for a long time to get one, and people are telling me it's in my head. I am really scared of getting a muscle biopsy. Can you tell me how that is done, how much do they take of your muscle? Where from? Does it leave scars? What are/were your CK levels? Thank you.

Hi Dana…so glad you wrote to me.

First, it’s not in your head. Girl, even now with a legitimate and secure diagnosis from the most prominent Neurologist in Houston, I still have family members that question my disease. Why? I have no idea. There are just those out there that have a propensity to do this to others…it’s bizarre. However, you just have to shut those people off in your head and just let it go. You know your body more than anyone else. My poor grandfather and father dealt with criticism and stigma their whole lives and it just breaks my heart. They both became reclusive because of it. I got to the point where doctors just blew me off and didn’t listen and I started thinking that maybe it was in my head. So I gave up. Six years of falling, pain, eyesight getting worse, not being able to walk for any distance, etc…, led me to finally to try again. I so wish I had had someone to tell me not to give up; to keep on until I found an answer. Bottom line: sweetie it’s not in your head!

Now, please don’t be scared of the muscle biopsy. It’s very simple and painless. My Neurosurgeon did it in his office. He performed it on my left upper arm. He completely deadened the whole area; made about a 3" incision and took a small piece of muscle. I didn’t even know when he started and when he was through. The whole procedure took about 25 minutes. The scar I have is barely visible. You have to get really close to see it. You will not even know that this very small piece of muscle is missing. Of course, it was sore a little afterwards, but nothing that a Tylenol wouldn’t take care of. It healed very quickly.

My CK levels weren’t high at all. They were a little elevated, but definitely not anything close to what some experience. I found that with most dystrophys, the CK levels will be just mildly elevated. Unless it is Polymyositis or Dermatomyositis. Those are inflammatory in nature, so your CK levels will be very elevated. The biopsy will focus on any muscle disruption and they will be able to tell you specifically any abnormalities. I have a very large amount of ‘moth eaten fibers.’ This is specific for most muscular dystrophys that are not inflammatory. It’s basically holes in the muscle fiber.

I would highly suggest you get a biopsy. It’s very definitive and ‘they’ can tell your doctors a lot…way more than just blood work.

I really hope this helps you and eases some of your troubles. Please, if you have ANY questions at all, do ask me. I know exactly how you feel and the mental torment this can do to a person.

Kay :slight_smile:

Hi Kay, I am so grateful for your answer, you have no idea.

"Six years of falling, pain, eyesight getting worse, not being able to walk for any distance"

I am having some eyesight problems--mostly very very dry eyes. Did an ophtalmologist diagnose your eye problems before you got your final diagnosis?

"Not being able to walk any distance." I myself have a lot of trouble walking, but I never stumble or fall. I got to the point where I cannot walk more than 2 blocks, that is extremely tiring and my legs feel as if of wood. I also have pain in my muscles and my back feels really strange.

Can you explain your statement about your walk? You must be able to do some walking otherwise you'd be disabled and you didn't mention this. How much can you walk at a time? What is the quality of your life? My life is a nightmare. When I wake up and need to stand on my feet is very painful.

Also suffer of severe insomnia.

We sound very much alike.

I woke up one morning about a year, before I really noticed my muscle problems, with an extremely painful left eye and it was very swollen. When I looked down, it was painful and I had double vision. I went to Opthamologist that sent me to NeuroOpthamologist…ended up having biopsy on my left eye muscle and they found an Orbital Pseudotumor. Basically, scarred muscle tissue that acts like a tumor but it is not. I still have double vision when I look down, but now I somethings have the double vision when I look from side to side. My eyes are always dry. I wake up with very red eyes and they get tired easily. I got one of those soft gel like eye packs…keep it in the freezer and put it on my eyes every night when I go to bed. It REALLY helps. Even if it’s temporary, it will make your eyes feel better. I now know that my eye problems are due to the MD. My eyes also get droopy as the day goes on. However, that is from the type of MD that I have. Not all dystrophys carry eye problems.

My geneticist told me that there are hundreds of dystrophys…most are not even identified yet. The biopsy will confirm if there is a muscle problem and what it is. Your symptoms will point to what type of dystrophy it is. If all of this is confirmed, you can then opt to have genetic testing; however, they only have testing for a few types. If they can’t identify the type, then it will be call ‘unspecified’. This does not mean you do not have MD. It only says that they don’t know the type. Like I said, there are hundreds out there that have never been identified. Your biopsy will point your doctors in the direction of the muscle abnormality and whether or not it is inflammatory.

I can walk to the mailbox and back and be tired and out of breath. I told my doctor that it feels like I’m trying to walk through peanut butter. I would say that I could make it OK for about one block, but then I’m spent. My legs just won’t go anymore. I have actually had my legs just collapse. Walking stairs is completely out of the question…can’t do it. I have learned that dystrophy is more about endurance than having that first off strength. I do OK starting but my endurance isn’t there. One of my first symptoms was a lot of pain on the bottom of my feet when I would get up and walk. It felt like I was walking on marbles. Yes, that is very painful! I feel like I need to stretch my legs a lot. They get very stiff. At times, they do get pain, but not all the time. I have problems with my shoulder blades. They get knots in them and it is very painful.

I also get insomnia. I don’t really know if it is the MD or not. You may have more of it because of what you are being subjected to mentally. Not knowing what you have can be extremely draining. I go to a Psychologist because this is hard to deal with…it’s depressing. My doctor told me that it’s very normal to have depression with all of this because it’s something that’s always on your mind and something you always have to deal with. Yes, it’s a nightmare. Your life gets robbed and you have to change every aspect of it. I use to have an immaculately clean house. Yeah, not anymore. But I’ve gotten OK with it.