Everything Changes

 

The leaves changing colors during a recent trip to Washington DC - see change can be beautiful!

The weather changes with the seasons (in most places), children grow up, Bath and Body Works discontinues your favorite line, and the word Pompe Disease enters your vernacular essentially changing your life forever. When Pompe enters your world, whether you are the patient or a friend or family member who has agreed to brave the journey with one of us – everything changes.

Suddenly, (for many who have this option available) every other week finds you hooked up to an IV for most of the day receiving a live saving drug – Myozyme or Lumizyme. For some it means having a port surgically inserting into your chest. And for other is means relying on a machine to help you breathe. For me, it means a adhering to a strict high protein diet and physical therapy regime. It also means sharing my story here and in the media and to whoever will listen – even if it means beating down doors, holding people down and forcing them to listen.

Change can be scary – in any situation. Fortunately, I usually adjust well to change as it is all I’ve ever really known. I’ve learned to roll with the punches and pick myself up (literally and figuratively), dust myself off, and try again. I’m not as strong and as fearless and I may sound. I have moments where I do want to give up, where it just seems too hard and incredibly unfair, but luckily they are just moments and they pass. These moments are important because they help me realize that this battle is hard, and it is ok to become frustrated. Just as long as I don’t stall out in a moment of despair, but instead regroup and focus on what is really important. Often these moments of frustration come when I’ve lost focus of the goal – with Pompe, I’ve found that you can never take your eye off the ball.

They say what doesn’t kill us only makes us stronger. Well Pompe is trying to kill me, so does the fact that I’m not going to let it and that I choose to fight back make me stronger? So, is this a battle worth fighting? Is it a battle that any of us can win? I think so and believe it is worth fighting. Fighting to regain as much strength and independence as I can. Fighting to raise awareness. Fighting to develop new treatments and even a cure.

Did I mention that I’m incredibly stubborn? That helps A LOT!

Some people go through life not knowing where to focus their efforts or what is really important – it is a no-brainer for me. I fight against Pompe, for myself and for others. No matter how hard it gets or how the battle changes, there will always be warriors and heroes out there fighting the good fight. Whether it is a parent working a second job to help pay the medical expenses, or the sleep deprived scientist working in the lab developing a better treatment, or the Pompe patient working through the pain and weakness in physical therapy – there will always be resistance to this horrible disease that seeks to destroy us. The fight may at times seem lonesome, but there are people all over the world fighting their own personal battle against Pompe and from one another we can draw strength, especially during those moments of doubt that we all have.

Like I said, change can be hard. It can be frustrating. But we need to adjust to new things otherwise we’ll lose the battle. For example, I have to change insurance plans in a matter of days. This is more than just a hassle with paperwork, it is going to cost more – a lot more. My premiums will be almost double, my co-payments will be double, and my deductible is increasing considerably. Technically my insurance company should allow me to stay on their plan for 11 more months, but due to a nightmare of paperwork bureaucracy and misinformation they have decided to drop me. Now we all know they could do the “right thing” and allow me to stay on their plan for another 11 months, but insurance companies hardly ever do the right thing for patients, they do the right thing for the bottom line. And having someone with Pompe disease on the plan is terrible for the bottom line. Did I want to tell them to have a Merry Christmas and a Happy Go To Hell? Of course! But that wouldn’t have solved my problem. Luckily I have a wonderful Genzyme Case Manager who is helping work through all the nightmarish paperwork that comes along with signing up for a new plan with a pre-existing condition. She assured me I had nothing to worry about. So, while this change – in a word: sucks, there is hope out there for me. Somehow it will all work out and I’ll continue to receive Lumizyme which will allow me to fight the good fight.

Everything changes, and with Pompe as part of the equation things can change quickly and dramatically. Life with Pompe is never dull, and no matter how it may feel at times – you’re never alone. There is a wonderful support community out there between the other patients and families, the folks at Genzyme, and the dedicated doctors and nurses – there is always someone you can reach out to, you just have to be willing to reach out. And please remember to pay it forward to another lost soul when the opportunity presents itself, and it will present itself.

We can’t always control the things that change in our lives and there is no sense it stressing out about the things we can’t. Instead focus that energy and passion towards the things you can do something about.

And in the spirit of change… I decided it was time for a change – a change in my hair style! Hey, I said we need to focus on what we can change and didn’t say it couldn’t be (at least every once and awhile) superficial! Wink! Wink!

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62 comments

  1. Change is all around us! Thanks you for sharing and making me smile.
    Keep up the awesome fight Monique!
    Donna
    P.S . Planning our trip to see Dr.Byrne, early summer. Will keep you posted on dates so we can have another dinner date with you!

    1. Thanks! I noticed your latest blog entry is along the similar theme – great minds!

      Can’t wait to see you guys this summer! Yeah!

      Monique

  2. You? Stubborn? Who told you that? Couldn’t possibly be from the Griffin side of the family.

    Okay. If you don’t want to share online, at least send me a photo by e-mail of your “new do”.

    Keep warm. We finally got some snow. Maybe about 6″. Keep up the good fight and we’ll talk soon.

    Aunti Jan

    1. Doesn’t Griffin mean stubborn using the original Irish translation?

      I’ll work on a photo – I actually don’t have any with the new look.

  3. The more things change, the more they stay the same. I’m sorry to hear about your insurance hassle. Can we not get a break, even just once? The one good thing that this disease does is bring good people into our worlds. Keep up the fight and there’s a lot of us that fight it with you!
    Brad

  4. Hi Monique,

    I love your blog! It is very inspirational. I just wanted to ask a question. I read that most Pompe’s patients have elevated (sometimes mildly) CPK levels. My CPK levels have always been normal. Does this pretty much rule out Pompe’s disease? Or have you ever heard of any cases that had normal CPK levels?

    I’m so confused. Whatever is wrong with me is progressing, and I hope so much that it is Pompe’s because I know it’s treatable. I will see my geneticist on January 5th. You are so lucky to have finally gotten a definite diagnosis and that it’s something treatable that you can fight. I hope so much that I will also turn out to have Pompe’s so that I can fight it with Lumizyme. I’m so afraid that it might turn out to be something else that is not treatable. I’m trying not to worry, but it’s very difficult.

    Thanks so much! And have a wonderful new year! Donna Blackwood

    1. Donna:

      While CPK levels can be a clue to Pompe they can also indicate other muscle problems as well as liver problems, so I’m not sure if normal levels mean that you don’t have Pompe. Everyone is different and everyone’s body reacts differently to Pompe and there just isn’t enough information out there to make any good guesses. Try not to fixate on the “what ifs” and just take it one day at a time. Stress will only cause you to lose focus and could end up making you sicker, but please do not give up. Stay on these doctors, tell them to test you for Pompe and anything else they think it might be. This is your life and you have to be your own advocate. Make follow up calls and if these doctors can’t or won’t help you the get yourself to Mayo or Duke. I know how frustrating and scary it can be to not know. I wish you the best of luck and really hope your illness does not remain a mystery for much longer. Just hang in there and keeping fighting for the answers.

      Happy New Year!

      Monique

      1. Hi Monique,

        Thanks for your encouraging words! I wish so much that I could go to Mayo or Duke, but it’s impossible because my mother and I just don’t have the money. Plus, I am on disability, and my QMB does not cover all doctors. But a man from Genzyme named Raymond Garza is trying very hard to help me get tested for Pompe. He said that he will be in Corpus Christi this coming Monday and that he is going to go and talk with my geneticist Dr. Lewandowski and explain the testing options to him. I’m so thankful for all of his help! I hope so much that Dr. Lewandowski will agree to let me be tested, but I’m pretty sure that he will. He’s a very kind and compassionate doctor. Raymond told me that there are several Pompe’s patients in Corpus Christi and that they are receiving Lumizyme. He said that if I do turn out to have Pompe that I could receive the Lumizyme at a hospital in Corpus Christi. I was so relieved to hear that because Corpus Christi is just twenty minutes from Portland where I live. Last night, I did find some information about CPK levels and Pompe on the internet. It said that in some mild Pompe cases the CPK can be normal. I was so glad that I found this information. I’ll try not to stress so much about all of this. You are right when you said that stress could make me sicker. I know that it can make any degenerative disease worse. Thanks again for your encouraging words! I wish you much happiness in 2011! Donna Blackwood

    2. Hi Donna. I just wanted to reiterate what Monique has said. I have high CPK levels. My understanding is that it is generally caused by either liver problems or muscle damage. I also have high liver enzymes so, hmmm, could be related. If they haven’t, make sure they check yours. I believe CPK can also be high after having a heart problem (heart attack, etc.). It’s a muscle, right? The onset of Pompe varies widely and it progresses at different rates for everyone. If the progression is causing muscle damage then it does make some sense that CPK would be high but there are a lot of factors involved.

      CPK level is just one of the easy tests that they would use together with other info to decide if Pompe is a possibility or not. There are a lot of other factors. I was tested for absolutely everything before they determined I have Pompe. It’s empowering to know the diagnosis. Don’t give up pushing until you have one. We are fortunate that there is an easy test for Pompe now.

      I know it’s really easy to say this but I speak from experience… Don’t let this control you, you control it. As Monique says, be your own advocate, because nobody can do it better than you can. You are the only person that knows how you feel and don’t give up finding an answer. I hope it comes very soon and that you have a happy and healthy 2011!

      Brad

      1. Hi Brad,

        Thanks for your encouraging words! I will try harder not to let my fears control me. I guess I’m just very nervous and worried because ever since I was 15 no one could ever explain what is wrong with me. I became so used to never getting a definite diagnosis that I kind of gave up hope and thought I would be a medical mystery forever. It’s a fear that has haunted me over the years and caused a lot of depression. When I was 15 and first became sick, one doctor told my mother, “I don’t know what is wrong with your daughter. I’m not God. I strongly suspect that she has some rare inborn error of metabolism, but I have no idea which one.” I never forgot those words. They have always haunted me, and over the years I kept asking myself, which “rare inborn error of metabolism” do I have? The doctors would often find abnormalities, but they could not explain them. They couldn’t fully explain the abnormalities in the muscle biopsy I had in 1998. One neurologist said that he thought my diabetic neuropathy was causing the mild muscle atrophy. But when he was talking with me he had a puzzled look on his face. He said that he did not think my diabetes alone was responsible for the atrophy. He said he strongly suspected that something else was going on but that he could not pinpoint it. I am now wondering if that “something else” might be Pompe’s. My current doctor said that I will probably need to soon have another muscle biopsy, since I’m much worse now. This proximal weakness and pain in my upper arms and legs began when I was 15, and I was not a diabetic at all then. So I’m certain that diabetes was not the cause then. I did not become a diabetic until age 34 after gaining a lot of weight. I’m 55 now. Whatever is wrong with me now seems to be the same thing that began when I was 15 and has gradually progressed. I read that Pompe can act like that. I did a lot of searching last night on the internet, and I found one article that said that the CPK can be normal in some mild Pompe cases. I was so glad to have found that article.

        I now have more hope since I found Monique’s blog and am able to communicate with such nice people like you and her. And a man named Raymond Garza from Genzyme has been in contact with me and is trying to help me get tested. He is going be in Corpus Christi this Monday and is going to talk with my geneticist Dr. Lewandowski. All of this helps me to not feel so alone. Thanks again for your encouraging words, and I also wish you a happy and healthy 2011! Donna Blackwood

        1. I’m glad you have someone from Genzyme working with you, they can work miracles. You’re in good hands!

          Monique

        2. Donna:

          Just s couple more things… Well, some unsolicited advice really…Don’t let them do another biopsy until after they test for Pompe because we no longer need a biopsy to test for it, just a simple blood test. I have had three muscle biopsies, all painful and none of them diagnosed me, plus they leave scars. Good luck to you!

          Monique

          1. Hi Monique,

            Thanks for your wise advice! I don’t want another biopsy unless it’s absolutely necessary. I had my first muscle biopsy in 1992. It was normal. But the muscle biopsy I had in 1998 was abnormal. It showed mild atrophy, which they thought might be caused by my diabetic neuropathy, but they also thought that something else was going on that they could not pinpoint. There were no glycogen deposits, but I read several internet articles that said that an absense of glycogen does not rule out Pompe. If they recommend another biopsy, I will tell them that I would rather wait and see what my blood test shows.

            I will see my geneticist, Dr. Lewandowski, this Wednesday on the 5th. I’m so nervous! I hope so much that he will agree to let me have the testing. When I walk even short distances in my walker, the outer area of my upper legs burn like fire, and the feeling of weakness and fatigability are so profound that it’s impossible to describe. It makes me feel like I’m going to collapse. Do your legs also feel this way when you walk more than short distances?

            Even when I hold my cell phone or the regular phone receiver up to my ear, my upper arm will start to burn like fire and feel very weak. It’s so strange.

            Thanks again for your advice! I’ll let you know what Dr. Lewandowski says.

          2. Donna:

            I think it is fairly common to only have one 1 MDA doctor in each area, at least that is what I’ve encountered. The one in my area is a sports medicine doctor, so they do come in all flavors. It sounds like it would be worth it to visit the oncologist who knows about Pompe. Because Pompe is so very rare, the doctors who know about it come from many different disicplines. Dr. Bryne at UF is a pediatric cardiologist. So when it comes to Pompe, don’t fear the specialist’s defined area.

            As far as pain, a lot of it is gone since starting Lumizyme and physical therapy. But the pain I feel I would describe as achey, but I guess if it was bad enough it would feel like burning. But again, everyone is different and the pain is different for everyone. I do find that Aleve is the best OTC med for that type of pain.

            I’m so sorry to hear that you’ve been in your medical mystery for so very long. I was misdiagnosed for 10 years and was a medical mystery for one year and that felt like forever, I can’t even imagine what it is like for you! Please promise me that no matter what happens with the Pompe test you won’t give up your quest for the truth. Once they know what it is they can really help you fight it. Please hang in there, never give up!

            Monique

        3. Donna, ditto again about what Monique says. I had a muscle biopsy too and I’d have to have a lot of convincing to have another one. I’m not saying I wouldn’t do it if it’s important, but if it is they’d be able to convince me, right?

          You’re totally doing the right thing by reaching out to people that fight through the same things that you are. It really does make a big difference. Has your doctor actually said that it’s some kind of undiagnosed muscular dystrophy? Have you talked to anyone at the MDA, or you local chapter? It’s a big step. It was a really big step for me, but it’s a very good thing to do. Lots of good people.

          Years ago, well before being diagnosed, I had a kidney stone and the pain lingered afterward so we did more diagnostics. The radiologist noticed right away in the pics that my proximal muscles weren’t normal and was even surprised that I was able to stand. At that time I was very active and really had no idea I had a problem. It was many years later that I was diagnosed. I just mention this to illustrate that we’re all different and we all take different routes of progression. However, we’re all “normal”! (just had to add that little tidbit)

          I’m so sorry that it has been such a long process for you. It sounds like you have some good people that can help; your doctor and the Genzyme rep. Pompe is so rare that doctors generally don’t know much about it. Raymond may be able to help with that. I can’t tell you how many doctors who’ve looked at me with a blank stare while I explain Pompe to them! That doctor that used those words years ago with you sure didn’t realize the impact that they would have. I wish people would think sometimes. Words that might have made sense to him can have a much different meaning to us. Do your best to let it go Donna. File his comments where they deserve to be filed! You’re doing all the right things. Keep believing that you’ll figure this out, because you will.

          Brad

          1. Hi Brad,

            I always feel so much better after talking with you and Monique! I’m sorry to hear that you once had a kidney stone. I’ve had two–my first when I was 15 and a much larger one when I was 36. The second one was so huge that it got stuck in my left ureter. My brother has also had two stones, and so I guess maybe they are genetic in my family. I was told they were calcium oxalate, which are the most common kind. After the second stone, I started taking magnesium 400 mg. and a B-50 Complex vitamin, which I was told can help to prevent further stones. So far, I have not had anymore, thank goodness!

            Raymond from Genzyme told me the name of the local MDA doctor in my area. He is the only MDA doctor in my area. I don’t mean to say anything bad about a doctor, but I’m afraid to see this doctor because there were terrible patient reviews about him on the internet. In the past (before I was as weak as I am now) I had a few doctors who were very cold and cruel and treated me like my weakness was all in my head. And I can’t bear the thought of encountering another doctor like that! I told Raymond about the bad reviews I had read, and he recommended that I stick with my geneticist Dr. Lewandowski. He said that if I do turn out to have Pompe that there is another doctor in Corpus Christ that would be able to help me. She’s not an MDA doctor, but she is an oncologist who knows a lot about Pompe. I don’t have cancer, but he said that she would be the one who would supervise things when I get my Lumizyme infusion. I was so relieved that there is another doctor in my area who knows about Pompe. I just did not get a good feeling about seeing the MDA doctor, due to the terrible reviews I read. There were a few positive reviews, but most of them were very bad. It said that one of his patients was told that she had MS by another doctor and that he told her she did not. She went to another neurologist who said that she did have it and that her MRI proved it. And it said that another patient saw him for shaky legs, but he told her it was all in her head. When I read these things, huge red flags went off, and I did not want to see him.

            I was never told that I have an undiagnosed muscular dystrophy. My muscle biopsy in 1998 showed a mild neurogenic atrophy, which they thought might have been caused by my diabetic neuropathy. But the neurologist thought there was also something else going on that he could not pinpoint. He considered me a mystery case, just like all of my other doctors have ever since I was 15.

            I’m so glad that you finally got diagnosed. I hope so much that I will soon. I’m hoping that it will turn out to be Pompe because it’s treatable. I’m terrified that I might again not get an answer. But I’m trying not to dwell on the fear. I’m trying to be positive, but it’s very difficult because of all of the years I’ve gone without a diagnosis. I’m praying to God for a definite answer and trying to be positive. That’s all I can do. Thanks again for your encouraging words! You and Monique are the best! Donna Blackwood

          2. Donna, it sounds like you’re doing the right things. Let it play out and then decide what to do from there. Pompe is like a lot of rare diseases that vary so much between people. It makes it hard to know one way or the other without getting tested. Your geneticist might have other things to test you for as well. The important thing is to know what it is, right?

            We don’t necessarily have to like our doctor, but we have to trust them and believe they are able to help us. I’ve had a couple doctors that simply wouldn’t listen so I dropped them and never turned back. I’d be doing exactly what you are. Let your geneticist do their thing and then take the next step. If it does turn out to be Pompe, you have someone that you can go to that sounds experienced, which is awesome.

            You’ve certainly had more than your fair share of all of this. Please keep us posted on what happens on Wed. It’s so much easier to test for Pompe now so you won’t have to wait long for an answer. Stay optimistic. Keep believing that this is the start of a very good year!
            Brad

  5. I need to book mark this post and come back to it often. Change is often hard for me to manage because I lose all sense of control and this post is great as it puts things into perspective. Like I just emailed you; you never cease to amaze me. :)genie

    1. Thanks Genie!

      We just have to learn which things we can change and which things we can’t. But I think it is a life-long learning process.

      Monique

  6. Hi Monique and Brad,

    I saw Dr. Lewandowski this morning, and it did not go very well. I’m so confused and very depressed. He told me that I do not fit the profile for Pompe. He said that the proximal muscle weakness I developed at age 15 and that is worsening fits the criteria for Pompe, but not the central nervous system (CNS) problems I developed at age 36 with the mild ataxia and the slight jerkiness in my legs and hands. I told him that Marsha Zimmerman, who is the head of the Acid Maltase Deficiency Association (AMDA) said that I could have two different things going on. He said that is possible, but extremely remote. I told him that I still want to be tested for Pompe, even if the chances of me having it are remote. If I don’t have it, well then I will know for certain. He also told me that the blood tests for Pompe are not very accurate. I was shocked to hear this because Raymond Garza from Genzyme had told me that they are very accurate, and I also read this. But Dr. Lewandowski did not agree. I forgot to ask Dr. Lewandowski if the skin fibroblast testing is the most accurate testing method for Pompe. Monique, you said that at Mayo you had a blood test to confirm your Pompe. Do you know if it was the blood spot test of the lymphocyte test? I know that if Mayo did a blood test on you that it must be highly accurate. Dr. Lewandowski told me that I need to stop trying to put a name on what is wrong with me! Can you believe that?! He said that I just need to see a neurologist so that they can “help me to get better.” But how can they help me get better if they don’t have a name for what is wrong? This just doesn’t make any sense to me.

    He also told me that my QMB will not cover any of the testing–not the blood testing or the DNA testing that Raymond recommended. I can pay for the blood testing, but I will have to save up for the DNA testing. He told me that his genetics counselor will do research on the best tests for Pompe and the costs and will mail me this information. He said he would help me to get tested, even though I could tell that he thought I most likely do not have Pompe. But I’m just so shocked by what he said about the blood tests not being very accurate.

    How I wish I lived in Florida so that I could see Dr. Barry Byrne, the neuromuscular specialist that you saw! Unfortunately, there are not any doctors like him in my area. But I’m thinking about maybe e-mailing him and asking his opinion about the blood tests. I just find it very hard to believe that the blood tests for Pompe are not that accurate.

    I’m trying not to sink too deep into depression over this. It just seems like there will never be an end to it and that I will never get a diagnosis. I feel like giving up because I’m so exhausted to keep trying and trying and never getting anywhere. But something inside keeps telling me not to give up. If I never have the testing, I will never know for certain whether or not I have Pompe. A few weeks ago, when my rheumatologist told me to raise my arms up straight over my head, I could not do it. I could only raise them part way, and they were bent at the elbows and not straight. I struggled and struggled to raise them straight, but I couldn’t do it. I’ve always been this way since 15. I am still in shock that Dr. Lewandowski told me that I need to stop trying to put a name on what is wrong with me.

    Well, I better go now. I’m so sorry this is so long! I feel pretty hopeless right now, but I’m trying to fight it. Thanks for all of your support! Donna Blackwood

    1. Donna, I’m so sorry that you aren’t getting the information that you’re hoping for. It’s incredibly stressful and there are a lot of us that have had to deal with these things too, not just Pompe patients. You can’t give up fighting for an answer. You just can’t. Even if you’ve been unable to be diagnosed in the past, that doesn’t mean you are now. They learn more about everything all the time.

      From what you wrote, your doctor contradicts what your Genzyme rep said about test accuracy, but then has to refer it to someone else to determine the best tests. That’s odd. From what I’ve read, the blood tests are now very accurate. Your doctor might not know of recent improvements. When I had genetic testing done, I was told that it’s not always possible to detect the genetic mutation, even when they know it’s there. We do know from some of your results that you don’t fit the obvious profile. Your CK isn’t elevated and your last muscle biopsy wasn’t typical Pompe. There is so much variability in Pompe that those things aren’t conclusive.

      It is true, of course, that we all want you to get better in the sense that your symptoms can be managed and, hopefully, improve. It’s a bit confusing that he doesn’t think a diagnosis is part of that. Of course it’s possible that there is more than one thing happening. Unless, he can tell you what’s wrong, that could be an answer, even if it’s unlikely. Try not to get too upset. It’s unfortunate that your insurance won’t cover the costs, but they are pursuing those tests and that’s what you really want at this point, right? Talk to your Genzyme rep and see if he knows of any assistance available to help in getting the test done. If there is anything, he would know.

      You have probably read these pages on the pompe.com website. This is a website run by Genzyme so keep that in mind when you read it. There is very good information there though. I’m adding two pages in particular. The first one lists some diseases that are often diagnosed when it’s actually Pompe. The second talks of tests used to confirm diagnosis and specifically says there have been improvements to the blood tests and that they are now very accurate. If you do have the blood test done, it might be good to touch base with your Genzyme rep to make sure it’s being done somewhere that uses the new methods (if that’s actually a concern).

      http://www.pompe.com/en/patients/getting-diagnosed/shared-symptoms.aspx
      http://www.pompe.com/en/patients/getting-diagnosed/confirming-diagnosis.aspx

      By far the most important thing is what Monique said previously. You are your best advocate. Nobody knows how you feel like you do. Doctors are all very busy and have a lot of patients. They often aren’t able to think outside the norm. That’s why so many people get misdiagnosed. Keep pushing. Make sure they get on with having those tests done and keep copies of the results. Be confident that you’re doing the right things and keep pushing for an answer. Don’t feel like you’re in this alone Donna. There are many of us that struggled to get diagnosed and many that still are. When I mentioned the MDA earlier, I wasn’t meaning to look to them for medical help. I meant that you might find a local chapter filled with good people like you that you could lean on for support and they on you. I have a great chapter here. And then, there’s us too!

      I’m happy that you’re getting that test done. It won’t take long to get the results.
      Brad

      1. Hi Brad,

        Thanks so much for your reply and the information you sent me. I read it, and it was very informative. Today, Raymond from Genzyme called me and said that I could have the blood spot testing for free. I had been going to save up money for the testing, but he said I could have it for free. He said that if I make an appointment with my regular doctor that he will come down to Corpus Christi and discuss everything with her about the blood spot test. He said that he would bring a kit for the testing and make certain that everything is done correctly. I told him that I would not be able to get enough blood out of my finger to cover the circles, but he said that’s okay and that the lab tech in my doctor’s office can draw my blood and put it on the circles on the card. He said that there are several places the blood spot test can be sent. He said it could be done at Genzyme, The Children’s Hospital in Seattle, Washington, or several other places. The Seattle children’s hospital is one of the places listed on the Genzyme information of labs that do Pompe testing. Duke University is also on this list. Monique said that my blood should be sent to Duke, and I’m going to ask Raymond if it can be sent there. I’m pretty sure that he will say yes. I forgot to ask him that when he called. I’ve been so worried lately and have had so much on my mind that I forgot to ask him that. But I will definitely remember when I talk with him again next week. Raymond said that if my blood spot test is positive for Pompe that I will require a second confirmatory blood spot test. But if it is negative, this will mean that I do not have Pompe. He said that he talked with some people concerning my case (I’m not sure if they were doctors, but I think they may have been), and they told him that they felt it would be best if I had the enzyme testing, even though some of my symptoms do not fit the Pompe criteria. But Raymond said that the proximal muscle weakness I’ve had since age 15 is very characteristic of Pompe. He agrees with me that I could have two different things going on. He said they told him that I need to get tested so that I can know for certain and also because if the test is negative, my doctors will know to suspect something else.

        Yesterday, before I had heard from Raymond today, I e-mailed Dr. Barry Byrne at the University of Florida, and he said that I could have the blood testing done free through his MDA clinic. He said that a nurse will soon be calling to talk with me about arranging this. I forgot to ask him where my blood would be sent. Since Raymond said he would come down to Corpus Christi and personally talk with my doctor and supervise everything to make certain that it’s done correctly, I think I will go ahead and do this. I would feel so much better having him there to explain everything to my regular doctor and to the lab tech who will be drawing the blood and putting in on the circles on the card. I just want to make sure that everything is done correctly.

        I didn’t mean for it to sound like I had critisized Dr. Lewandowski. He is a very kind and compassionate doctor, and I could tell that he really does care. I’ve had some very cold and callous doctors in the past, but Dr. Lewandowski is not one of those. He is a very kind person. But for some reason, he just did not think that the blood testing was very accurate. But he is a nice doctor, and I didn’t mean to say anything against him. A friend of mine said that when he told me that I need to stop trying to put a name on what is wrong with me, he probably meant for me to wait and let a neurologist decide what is wrong. He meant well when he said this, and he did not say it in an angry way at all. I think he was just worried because he could tell that I was very stressed out from endlessly researching on the internet and trying to figure out what is wrong with me. I’m not trying to diagnose myself, but I am glad that I did this research and learned about Pompe. I had heard about it in the past when that neurologist I saw in 1992 suspected I might have it. But when he said I did not, I really didn’t know that much about Pompe. But now, thanks to the internet and also because of Monique’s blog, I know much more about this genetic disorder. And I learned that a normal muscle biopsy does not rule out Pompe, which is something that they did not know back when I saw that neurologist. I also learned that some of the abnormalities that my 1998 muscle biopsy showed are sometimes seen in Pompe patients (the scattered, angular and atrophic fibers). I still may turn out not to have Pompe, but even if I don’t I’m still glad that I learned a lot about it. I know that something is terribly wrong with me, and I hope it is Pompe because it is treatable with Lumizyme. If I have Pompe, I feel that I might get better like you, Monique, and so many other people have. That would be so wonderful! I will be very upset if I turn out to have something else that is not treatable. But I will just have to wait and see what happens and try not to worry too much. That’s very difficult for me! I think I was born a worrier!

        Whatever is wrong, whether it is Pompe or something else, it’s getting very scary. I now can’t stand up for more than one minute at the kitchen sink, even with my wheelchair right behind me. Sometimes, I can’t even stand for one minute. And just going to stand at the chest of drawers in my room to look through a drawer exhausts my upper legs and make them ache. Just raising my arms to wash or comb my hair exhausts them. But I’m trying to hang in there the best I can. I read the story about you on Monique’s blog. It was very inspirational, and I’m so glad that you got a definite diagnosis and that your respiratory function has improved some.

        Thanks again for your support and the information you sent. I’ll let you and Monique know what happens. Donna

        1. Donna, I’m so happy to hear that you’re getting so much support. That’s awesome. Raymond is being amazing, isn’t he? I would have faith in wherever he says the test can be analyzed. He’ll know, and the info that he has will be current. And you’re getting support from Dr Byrne too. That’s excellent if the analysis can be done there. You will get good guidance from both of them. For sure this has to be stressful but it’s a lot better to know, isn’t it? Things are rolling now so you can just go on autopilot and let it all play out.

          You know, it’s kind of funny, but a lot of us that go through this think in terms of ‘our team’. You’ve got some good people on your team; Dr Lewandowski, Raymond and Genzyme’s resources. Dr Byrne has offered to help. You have some very good people in your corner!
          Brad

          1. Hi Brad,

            I accidentally overlooked your reply to me on the 7th. Sorry! I just saw it after I posted a comment for both you and Monique a few moments ago. Before Dr. Bryne had offered to help me, Raymond had been going to come and talk with my regular doctor and show her lab tech how to do the blood spot testing. But my doctor’s receptionist said that my doctor was too booked up for weeks and could not make time to see Raymond. I was so disappointed. And so that’s when Dr. Bryne offered to help me. I’ll let you and Monique know what my tests show.

            I forgot to mention in the post I just sent that Dr. Bryne told me that in some people Pompe can manifest with both proximal muscle weakness and central nervous system problems. He thought that this was even more of a reason for me to get tested. He is so nice and very understanding. I feel that I am in very good hands.

            Well, bye for now. I hope you are doing well. Donna

    2. Donna:

      Brad is right, the tests are very accurate today. I didn’t do the blood spot test as they already suspected Pompe, they just took a regular vile and sent it to Duke-which is where you want your blood test sent, if they give you a say.

      MDA has been known to help with the cost of testing for Pompe. Talk to Raymond about this. MDA is a good community to be part of, I highly suggest you reach out to your local office.

      While your doctor feels it is not probable that you have Pompe and another condition, I have to side with Marsha and feel that it is possible. It may. Ot be Pompe, but your doctors need to diagnose you, that is their job! Once you know what it is you can manage your health so much better. Even if it turns out to be something other than Pompe, there are still things you can do like diet and exercise to help improve your condition but you HAVE to know what it is in order to do that. I was misdiagnosed for 10 years and the approach I now take with diet ad exercise is very different than when I was working with the wrong diagnosis. Knowledge is key. Please don’t give up.

      Monique

      1. Hi Monique,

        You can read in the reply I sent to Brad about how Raymond from Genzyme said he would come down to talk with my regular doctor. He said that if I make an appointment with her that he will come down and explain everything to her and that he will also bring a blood spot test kit and supervise everything to make certain it’s done correctly. He said I could have the blood spot testing for free. I hope that it is as accurate as the lymphocyte testing. I’m not sure, but it probably is. I forgot to ask him if my blood can be sent to Duke, as you strongly suggested. I will definitely ask him this when I talk with him again next week. I really want it to be sent to Duke like yours was.

        Maybe now I will finally get an answer and know if I have Pompe or not. I hope so much that I do because it is treatable. When I first read the internet article about you, your symptoms sounded very similar to mine. And when I read how you improved after receiving the Lumizyme, I felt tremendously happy for you. I actually got tears in my eyes. I told my mother and a close friend of mine (Terry who lives in Whitesboro Texas), and they were also very happy for you. I sent Terry the article about you, and I also sent her that video about when you went to get your Lumizyme infusion. I kept thinking, “Wow! She is so fortunate to have something that is treatable. I hope that I will be as fortunate.” I’m also very happy for Brad that the Lumizyme is helping him.

        Well, that’s about all for now. I’ll let you and Brad know what happens and what my blood spot testing shows. I’m more nervous than I can say! It’s all in God’s hands. Bye for now, and thanks for your support! Donna

  7. Hi Monique and Brad,

    I just wanted you to know that Dr. Barry Byrne is going to help me get tested. Raymond Garza from Genzyme had been going to come to Corpus Christi and show a lab tech how to do the blood spot testing. But then Dr. Byrne’s nurse practitioner e-mailed me and said that they will be sending me a box with a tube for the lab tech to draw my blood, which will be sent to The Children’s Hospital in Seattle. She said that my blood will be placed on a blood spot card when it reaches the Seattle hospital. This way, they will have some of my blood left over in the tube that can be used if further testing has to be done. This way, Raymond won’t have to come to Corpus Christi and show the lab tech how to do the blood spot test. But I was told that he will still continue to help me if I do turn out to have Pompe. He is very nice. I will be getting the box with the blood tube soon from Dr. Byrne’s office. And so it shouldn’t be long before I will know for certain whether or not I really do have Pompe.

    I know it that I could turn out not to have Pompe, but I’ll never know unless I’m tested. If it’s not Pompe, I don’t know what else could be wrong, unless it’s something autoimmune, as has been suspected for many years but never proven. In 1996, one blood test showed that I had very high antibodies to peripheral nerve myelin and central nervous system myelin. The doctor back then thought that this might explain my weakness and peripheral neuropathy, but he wasn’t certain. I was a medical mystery to him also. I’m just trying to be patient and hope that the Pompe testing will give me a definite answer. I know that Pompe typically doesn’t cause myelin antibodies, but perhaps I have two things going on, as I have suspected for a long time.

    Thanks again for your support! I will let you know what my blood testing shows in a few weeks. Donna

    1. Donna:

      That is great news! Things are moving along and you’ve got some great people on your side. I’m glad to hear you’re being tested properly for Pompe. No matter what the test says, it always better to know I these cases.

      I look forward to hearing the outcome and no matter what, I’ll be here for you to help you through this journey.

      Monique

      1. Hi Monique,

        Thanks for your support and kind words. I have a feeling that I will probably receive the box with the blood tube this week. I’m so grateful that Dr. Byrne is helping me to get tested. I wish I lived in Florida so that I could see him in person.

        I’m more nervous than I can say about what my test will show! I’m so afraid that it will be negative and that I will be right back at square one, not knowing what is wrong. I can’t bear the thought off never getting an answer. But despite these fears, I’m trying to remain positive.

        Before starting the Lumizyme, did you ever have severe leg cramps? I was just wondering because I have read that Pompe and the other glycogen storage diseases can cause muscle cramps. I have severe cramps in my calves almost every night. They are so severe that it will actually twist my foot to the side. And these cramps don’t disappear within a few minutes. I have to wait about twenty minutes for them to fully subside. Since 15, I’ve had intermittent muscle twitching. I can actually see the muscles moving up and down beneath the skin at times. I read that the glycogen storage diseases can also cause this. If I turn out to have Pompe, I guess this could explain the cramps and twitching.

        Thanks again for all of your support! I’ll let you and Brad know what my test shows. I wish you the best always! Donna

    2. Excellent. You’ll know one way or another soon. Interesting about what Dr Byrne said about how it manifests differently in different people. I guess that’s one reason why it’s so often mistaken for something else. However this turns out, you know you’re special!
      Brad

      1. Hi Brad,

        Thanks for your kind words. I don’t know for certain yet when I will receive the box with the blood tube from Dr. Byrne’s office, but I’m sure it will be soon. I have a feeling that I might get it this coming week. I am so grateful that Dr. Byrne is helping me to get tested. When I called his office to ask a question about Pompe, he answered the phone. And so I was able to talk with him and ask him some questions. He was very nice. And Lee Ann and Sarah at his office are also very nice. I hope so much that it is Pompe so that I can get the Lumizyme and have a fighting chance to get better, like you and Monique did. I’m so weak now that I’m hardly able to do anything. Just standing to wash my hair at the kitchen sink feels like climbing Mount Everest. It’s mostly my upper (proximal) leg muscles and my upper arm muscles that get extremely fatigued and weak, even from doing simple things. And doing simple things like this also makes me feel very breathless, like I’ve been running, but I haven’t. And I have noticed that my sleep apnea is getting worse. I have to sleep with the head of my bed raised straight up to a sitting position. Otherwise, I will stop breathing just when I’m about to fall asleep. I also have noticed that I often feel breathless even while I’m awake. I often feel air hunger and have to take in a few deep breaths. All of this seems like it could be Pompe, but I just don’t know for certain yet.

        I’ll let you and Monique know what my tests show. Thanks for all of your kind words and support! I wish you the best always! Donna

        1. Dr. Byrne really is the best! I’m glad you are working with him and had the opportunity to speak with him. Do you use a bi-pap or c-pap machine at night? Sounds like you would really benefit from one. It would keep you breathing and allow you to sleep better and getting enough rest can help anyone in any situation.

          Monique

          1. Hi Monique,

            No, I have never used a bi-pap or c-pap machine before. I will ask my doctor about getting one. Thanks! Donna

        2. Ha! I was going to ask about using a bipap at night too. From your description, it sounds like you aren’t. I’ve been using one for a bit over a year now. Basically, it sucks to need it, but it’s not too bad once you get used to it. My breathing was very much like yours before I got the bipap. I was quite worried about how I was breathing at night and my sleep was very poor. That resulted in significant fatigue during the day. It all kind of snowballs. Even if it proves to be something other than Pompe, it sounds like you need some help with your sleep. It’s really important to get good sleep, especially for us because we’re so special! Seriously, we need as much strength as we can get.

          What you really need is to have a sleep study done so that they can determine if you need assistance at all and, if so, what kind. There are different machines and various settings that have to be determined. You also need to have a mask that fits right and is as comfortable as possible. To be totally honest, I believe my improvement is at least 30% due to using a bipap now. There’s no reason to wait on the Pompe diagnosis to pursue this.

          For those of us with muscle weakness, it’s important to recognize that we may not have typical sleep apnea. That’s why cpap often isn’t enough and we have to go to bipap. When I had my first sleep study and they tried cpap it made no difference at all.

          Don’t let this feel like “oh no, not that too”! This is something that you can definitely pursue and deal with. It kinda freaked me out but you’ll find out that it’s not a big deal. Can you reply and let us know if you’ve looked into this already?
          Brad

          1. Hi Brad,

            I haven’t been to the computer in a few days because I’ve been feeling so weak and wiped out. I’m barely functional, and I’m so weak and exhausted that I just sit in my wheelchair for most of the day. I often fall asleep watching TV. I just can’t stay awake. I only walk very short distances in my room by holding onto the railing at the foot of my bed. My upper legs shake and feel like they are going to collapse. My upper arms are also very weak. But I’m hanging in there the best I can. I’m so thankful that I have my mother and brother to help me. My brother puts my wheelchair in the trunk of the car and drives me to my doctors’ appointments. I miss being able to drive myself like I used to before I worsened. I used to be able to use a regular walker without the seat and could drive myself places. But when I worsened in 2006, I had to get the huge Merry Walker with the seat that is right behind my legs. My brother had to start driving me places then because I could not lift the heavy Merry Walker. But now I’m too weak for the Merry Walker, and I just use the wheelchair instead. But it gives me hope, knowing that Dr. Bryne is trying to help me. And knowing that you and Monique also care also makes me feel so much better.

            Thanks so much for telling me about the c-pap and bi-pap. What is the difference between the two? I don’t know much about these things.

            Today, I talked with Lee Ann from Dr. Bryne’s office, and she said that they will probably be mailing my blood tube on the week of the 24th. If I get it that week, I can get my blood drawn and shipped to Seattle on the 31st. She said it usually takes two to three weeks for the testing results to be available. She said that Dr. Byrne will call me with the results.

            I’m so glad that the bi-pap machine is helping you. It would be difficult for me to get used to wearing a mask over my face, but I would do it if it would help me to breathe better at night.

            Thanks again for for your advice! I’ll let you and Monique know when I get my blood drawn and shipped to Seattle. I will probably know the results of the test sometime in February. Donna

  8. Hi Monique,

    Today, I talked with Lee Ann from Dr. Byrne’s office. She said that my blood tube will probably be mailed to me on the week of the 24th. If I get it that week, I will have my blood drawn on the 31st. They told me that it’s best to ship the blood on a Monday or Tuesday. She said it takes two to three weeks to get the results of the testing. Dr. Byrne will call me with the results.

    As I told Brad, I’m barely functional. Just standing at the kitchen sink for a few minutes totally exhausts me. My muscle weakness is getting worse, and now I become very breathless just from doing simple things. My mother has also noticed this and is very alarmed and worried. I hope so much that it is Pompe so that I can get the Lumizyme and hopefully get better. I hope so much that I won’t turn out to have something that is not treatable. My mother looks near tears at times because she is so worried about the worsening weakness and breathless I’m having, just from doing simple things. I feel very guilty that I’m causing her all of this stress, but she knows that I can’t help it. She and I have always been extremely close. She is an angel. I don’t know what I would do without her.

    I will definitely ask my doctor about getting a c-pap or bi-pap. I don’t know what the difference is between the two. I will also ask my doctor if I can go to a sleep clinic so that they can find out if I really do have sleep apnea. It’s seems like I do, but I know I can’t diagnose myself.

    I’m so thankful that Dr. Bryne is trying to help me. He is a wonderful person. My doctors is Corpus Christi are also wonderful people, but I’m glad I found out about Dr. Bryne because he is a Pompe expert.

    Well, bye for now, and thanks again for all of your support! It shouldn’t be long now until I get the results of my test. It should be sometime in February. Donna

    1. Hey Donna,

      I think looking into a sleep study could really help you feel a lot better, regardless of what your ultimate diagnosis is. Lack of sleep just really makes everything worse. Brad really knows more about that and the differences of the machines so I’ll let him fill you on that. I don’t use one, I was actually borderline for needing one but started Lumizyme and the nighttime breathing issues got better. I feel so much better in general for getting a good night’s sleep.

      I can totally understand your stress and frustration. The whole not knowing mystery diagnosis period was thhe worst for me. I tried to focus on other things and I would allow myself to really get upset for just moments. I would just yell and scream and let it all out and then I would move on. I had several of these moments during my medical mystery days. I would just let it all out for a couple of minuets and then I would feel a whole lot better. Ive also learned how to go into a deep meditation which helps me to manage stress as well as pain. I hope this helps you.

      I’m thrilled you’re working with BB at the crew at UF, you’ll know soon if it is Pompe or not and that is progess, no matter what happens.

      I think it is ok to say this….???? But I hope you have Pompe?????

      Hang I there!

      Monique

      1. Hi Monique,

        Yes, I do hope I have Pompe. That might sound crazy to other people, but I know that you and Brad can understand why I feel that way. It’s just that I already know that something is terribly wrong with me, and so since it is some type of disorder I hope it will turn out to be Pompe because it’s treatable. I would much rather have Pompe than some other type of neuromuscular disorder that is not treatable.

        I will receive my blood tube sooner than I had thought. I should get it this coming Monday, and I will have my blood drawn and shipped on Tuesday, the 25th. It will be shipped Fed Ex overnight delivery.

        I’m more nervous than I can say! I’m so used to never getting a definite answer, and I’m afraid to get my hopes up too high. If it’s not Pompe, I seriously doubt that I will ever find out what is wrong. My doctor said that it’s possible I might have some very rare mitochondrial disorder. But they are very difficult to diagnose, and I would never have the money to have that kind of expensive DNA testing. It it’s a mitochondrial defect, I will probably never know and will just have to learn to live with it. I would much rather have Pompe than a mitochondrial disorder. I’m not certain, but I don’t think that there are any treatments for most mitochrondrial disorders.

        Well, bye for now, and thanks again for all of your help! Donna

        1. Donna,

          I am the last person who would think you’re crazy for wanting to have Pompe. I’ve totally been there.

          I’m glad you’re getting testing, because it always better to know. I’m also glad that you’re talking to your doctor about sleep studies, it really sounds like that will help you out no matter what, no need to wait on the Pompe diagnosis to start getting answers about how well you’re sleeping or not.

          Have you ever seen a physical therapist for your mobility issues? Again, not matter what your condition, some general and basic PT could be beneficial. Just don’t try to do too much too fast because you could risk doing more damage and a good physical therapist will work hard to ensure you don’t injure yourself.

          The answer are out there – never give up, and never stop searching. I was misdiagnosed and didn’t know it and lost 10 years to the wrong diagnosis. Had I gone back to the doctor sooner, maybe I would have gotten my Pompe diagnosis sooner. I’ll never know.

          Monique

          1. Hi Monique,

            I’m so glad that you finally got a correct diagnosis. I’m sorry that you had to wait ten years to get diagnosed. That must have been very difficult.

            Yes, I have had physical therapy a few times before, but not for this worsening weakness. I had physical therapy in 2006 after I had surgery for a ruptured right achille’s tendon. It spontaneously ruptured just when I was standing in line at the grocery store. My podiatrist and rheumatologist said that the huge bone spur at the back of my heel is what caused the tendon to rupture. I had been having bad pain in that heel for years before the tendon ruptured. During the surgery, the huge bone spur was shaved off, and the tendon was repaired. It’s doing fine now. I also have a much smaller spur on my left heel, but fortunately it’s not nearly as large as the other one was. My rheumatologist thinks that these heel bone spurs are being caused by the same thing that has caused all of the large bone spurs in my neck and down my spine. Some of the spurs in my spine are fusing together. My regular doctor thought I had the autoimmune disorder called Ankylosing Spondylitis, but my rheumatologist disagree and said that I do not. She hasn’t yet put a name on it. I’m a medical mystery because of this also! My geneticist mailed all of my spine MRI’s and x-rays to some doctors at Cedars Mt. Sinai Hospital in California to get their opinion. But it will take about six months to hear back from them. I still don’t know what is degenerating my heels and spine, but I hope I soon find out. It could be something autoimmune, but they aren’t certain yet. But whatever it is, I doubt that it is connected to my muscle weakness. This is why I strongly suspect that I probably have two different disorders going on. I’m just a mess!

            In May of 2010, I was hospitalized for severe pain in my right sacroiliac joint (S.I. joint). It’s a joint near the spine. The pain was so excruciating that I could hardly move at all. I’ve never had pain that severe in my entire life. X-rays showed that my right S.I. joint is degenerated with bone spurs, just like my spine and heels. I had two cortisone injections in the right sacroiliac joint, but they didn’t help that much. But then, when a friend told me about acupuncture, I tried it. I was doubtful that it would work for severe pain, but it did! After about four treatments, the pain almost totally disappeared. I now only have occasional twinges of pain when it rains. It has been like a miracle, and I’m so thankful that the unbearable pain is finally gone.

            When I had the P.T. for the sacroiliac pain, they mainly just did ultrasound and electrical stimulation (TENS) treatments. They also made me do simple exercises while sitting down in a chair, such as lifting my legs and arms. Just doing these simple exercises exhausted my upper legs and arms, and I often was unable to finish doing them. It was very difficult. This is when the weakness was starting to progress, and it’s even worse now. If I do have Pompe, I’m sure that my doctor will want me to have regular physical therapy. I will do it, even though it will be very difficult. It’s mainly my upper arms and legs that get exhausted just from doing simple things. But despite the exhaustion, I guess doing the exercises will be good for me. Even if I turn out not to have Pompe, I have a feeling that the neurologist I was referred to will probably want to me have P.T. I have not seen this neurologist yet, but I will soon. I wish I had only one thing wrong with me instead of a thousand! I guess I must have inherited a lot of very bad genes. But I’m hanging in there and doing the best I can.

            Thanks again for all of your support! Bye for now, and take care! Donna

          2. Donna:

            I do not envy the situation you are in, it is no fun to be in pain and not even know why. Do speak up at your appointments and be part of the discovery team. Because you are such a medical mystery you might have to be the one to ask the doctors to consider things like bi-pap machines, sleep tests, even physical therapy. I know I had to speak up and have give and take conversations with my doctors – the trick is finding doctors who are willing to have these conversations with you. Take things one day at a time to keep from geting overwhelmed and take time for yourself away from your medical stuff to refocus and refresh yourself for the battle ahead.

            I look forward to hearing about your next update.

            Monique

    2. Hi Donna,
      I’m sorry to hear that you haven’t been feeling well. I hope that turns around.

      When I started using a bipap, it made a huge difference. I can’t overemphasize that. When you can’t sleep properly, it’s hard to function at all. Please pursue this. From what you describe, I bet it would be just as significant for you as it was for me. Regardless of whether it turns out to be Pompe, this is really really important.

      There are a few types of respirators. I’m not a doctor, but I’ll tell you what I know and certainly yield to the pros. I’ll list the options, that I know of, in order of complexity (=cost!):

      1. CPAP – This is Continuous Positive Air Pressure. This is commonly used for people with sleep apnea, who may have a problem with the soft pallet closing off their airway when they are sleeping. This happens more frequently when they are sleeping. It causes then to choke and wake, resulting in broken sleep and oxygen desaturation. The positive air pressure holds the soft pallet open. It makes a very big difference.

      2. BiPAP – This is Bi-level Positive Air Pressure. The is similar to CPAP, except that the air pressure when you are inhaling can be set higher than the air pressure when you are exhaling. For those of use with weakened breathing muscles, it can be hard to overcome the air pressure when exhaling. When I used the CPAP, it didn’t help me at all. BiPAP has made a huge difference. It’s a trick to determine the best pressure settings because there is more than just the two pressures. There’s the time each is one, the ramping up rate, etc. It really is important to have these things determined by doing a sleep study.

      3. APAP – This is Auto-titrating Positive Airway Pressure. I haven’t needed to go to this type so don’t know too much about it, but it is quite sophisticated. I believe it monitors your tidal volume (amount of air going in and out) and tries to regulate it within pressure limits. It does a lot more than just that though.

      The cost of the machines certainly goes up as they get more complex. That just makes sense. There are other features that are important too. If you live somewhere that the air gets dry at all, you need one with a humidifier attached. I live in a dry place and that’s critical here. Some units also have the ability to record downloadable data that your doctor can use to determine the best settings for you. If your case is complex at all, this is a good feature. I would say yours is, as is mine!

      When we say “mask” don’t think of it as a halloween mask! Some of the masks are quite small, even just having two small outlets that rest against your nostrils. That is the kind that I use. Everyone is different and that type might not work for you. Some cover the nose and others cover the nose and mouth. In all cases, there are straps that go over your head that hold the mask in place. Believe me, if you benefit from one of these respirators (and I think you would), wearing the mask will not be a big price to pay. You’ll have to get used to the whole thing, but you will and you’ll be very happy that you have.

      There is tons of info on the internet about this. Here is a video about the machines. The one that I use is a ResMed VPAP III. You’ll see it here with the clear plastic humidifier.

      This is the mask that I use. You’ll see that it’s misleading to call it a mask. It must be one of the most comfortable ones but once you get into this your doctor or respiratory specialist will probably have more info for you.

      http://www.shermanoaksmedical.com/Swift_FX_p/65-709.htm

      I’m so happy for you that you have some good people on your team. It’s great that you’ll have an answer soon. Please keep us up-to-date, and look into this respirator thing!

      Brad

      1. Thanks Brad, I really don’t know much about these machines except that they can really improve things for people. You rock!

        Monique

      2. Hi Brad,

        Thanks so much for the information you sent about the different types of breathing machines. I looked at the video and the other information, and it was very interesting and informative. If I turn out not to have Pompe, I guess I could have inherited sleep apnea from my father. He died from prostate cancer in 2000. My mother and I are almost certain that he had sleep apnea. He was never tested for it, but my mother said she could often hear him stop breathing during his sleep. He also snored, which is another sign of sleep apnea. My mother said that when he would stop breathing, he would wake up gasping and would have difficulty falling back asleep. I have read that sleep apnea can sometimes be inherited. And so if I turn out not to have Pompe, I guess I could have inherited it from him.

        I will definitely ask my doctor is I can have a sleep study. My blood tube will be sent sooner than I had thought. I should get it this coming Monday, and I will have my blood drawn on Tuesday the 25th. I’ll let you know what the test shows.

        Thanks again for the information you sent! I really appreciated it! Donna

      3. Donna, I completely understand how you feel. I can’t tell you how many vials of blood I’ve filled the past almost-ten years. It’s very stressful.

        When you talk about having a family history of sleep apnea, that illustrates that there might be more than one thing going on, right? When you have weak breathing muscles, its not typical sleep apnea, though you could have that too! If you do use a respirator, it should help with both though.

        Brad

        1. Hi Brad,

          I found out that the neurologist I was referred to also specializes in sleep disorders. I had not known this. And so maybe she will be able to tell if I have sleep apnea or problems breathing deeply enough when I sleep. I will ask her about the breathing machines you mentioned.

          I told Monique that I wish I had only one thing wrong with me instead of multiple disorders. In addition to my weakness, I also have some type of degenerative disorder in my spine that my rheumatologist hasn’t yet put a name on. But if I were to be diagnosed with Pompe, I would have an answer for the weakness, and I might improve with the Lumizyme. Even if they never find out what is degenerating my spine, I hope that I will soon find out what is causing this profound muscle weakness and fatigability. The weakness is worse and more disabling than the back pain and stiffness. But I should know soon whether it’s Pompe because my blood will be drawn and sent off this Tuesday.

          Well, bye for now. Thanks for everything, and take care! Donna

        2. Well Donna, I wish you had zero things wrong with you, but there must be something that explains all of this. That’s interesting that your neurologist specializes in sleep disorders too. That’s great. She should understand the contribution that muscle weakness is making to your breathing difficulty. One thing that I’ve learned is that doctors, like everyone else, look at things from their own perspective. Like we’ve said before, you are your best advocate and that’s important to remember. Don’t leave a question unasked. Don’t be shy about questioning what you’re told because you are the only one that knows how you feel. Quite often we’re told something because it’s unlikely to be something else. You know your case is complex though. I sure hope you get some answers soon.

          Before I got my respirator, I spent so many nights having difficulty breathing. I could really only lay in one position. I woke frequently and napped often. Now that I have the right respirator, I can get some real sleep. I still wake during the night, but it makes such a difference. With better sleep, I know I have more strength too. I bet fixing your quality of sleep would help in ways that you wouldn’t expect.

          Brad

          1. Hi Brad,

            Well, my blood was finally sent off to Seattle Children’s Hospital yesterday on the 25th. I called to make certain that they had received it, and they said yes. I can’t explain how tremendously relieved I was! Lee Ann from Dr. Byrne’s office said it will take two to three weeks for me to get the results. Or it could take even longer if further testing has to be done.

            All I can do now is wait and hope I will get a definite answer. Even if I turn out not to have Pompe, I will still ask the neurologist about the breathing machines you mentioned.

            I’m so glad that the breathing machines are helping you to sleep better and have more energy. I read about Monique’s visit to Genzyme. That must have been so exciting!

            Well, bye for now, and thanks again for everything! Donna

          2. That’s awesome Donna. Keep yourself busy and the time will go fast. I hope this is the beginning of some answers for you. Keep us posted!
            Brad

  9. Hi Monique,

    Before you started the Lumizyme and were having the very bad muscle pain, did the pain worsen with rain or other weather changes? My pain is there all the time, but it worsens whenever it rains or gets cold. I was just wondering if this also happened to you. My blood was sent to the Seattle Children’s Hospital last week. They told me that it should take two to three weeks to get the results, or even longer if further testing has to be done. I’m more nervous than I can describe! I desperately hope I get some answers. My mother keeps saying that when a person can hardly stand up at the kitchen sink or at my chest of drawers for one minute there has just got to be a reason. I agree, but I’m so used to not getting any answers. This fear is sort of ingrained in me because for so many years I’ve been told that they aren’t certain what is wrong. They say that it “might” be this or it “might” be that, but nothing is ever definite. A few years ago, when my regular doctor diagnosed me with the autoimmune disease called Polymyalgia Rheumatica, I thought that I had finally found an answer. But then my rheumatologist disagreed and said that I did not have Polymyalgia Rheumatica and that it never manifests at age 15 like my symptoms did. She said t only occurs in people over 50. I’m 55 now, but my proximal weakness began at 15, and so this is why she says I can’t have this disorder. Over the years, they have found abnormalities, such as my abnormal muscle biopsy at Baylor in 1998, elevated sed rate, elevated white count, abnormal reflexes, and peripheral neuropathy, but they can’t pinpoint the cause. I know there has got to be a reason for these problems that are worsening. I can’t bear the thought that I may be a medical mystery for the rest of my life and may never get any answers. One of my friends told me today that he hopes the Pompe testing is negative and that nothing else is found wrong with me either. He hasn’t a clue what it’s like to be so sick like this and not know what’s wrong! My regular doctor referred me to a neurologist, but I’m not going to see her until after I get the results of my Pompe testing.

    I read about your visit to Genzyme. That must have been so exciting! I’m happy for you that you got to go there. Well, bye for now. I’ll let you know what my test results show. If they are negative, I have a feeling that I will probably never know what is wrong. I’m trying not to worry, but it’s very difficult. I’m trying to stay positive and hope that I will get a definite answer. I don’t mean to sound so depressed, but it’s very difficult because I can’t get rid of the fear of never getting a diagnosis. Donna

    1. Hey Donna!

      The weather does not, and has not in the past, made my pain worse. However, you are not the first person to ask me that question so I think other people do experience changes with the weather. I think it has something to do with the change in the air pressure which can abdicate any number of conditions. As far as this type of flare up going away wi Lumizyme, I really don’t know, but I would imagine that if the condition improves, say with Lumizyme than the changes and pain that come on with weather might lessen too.

      I’ll be counting down the days to your tests results too! 🙂

      Monique

  10. Hi Monique and Brad,

    I haven’t yet gotten the results of my testing, but it should be soon. Monique, I just wanted to ask you a question. I know that before you started the Lumizyme you used to have bad headaches, due to impaired breathing at night when you were sleeping. I don’t have headaches, but for many years I have had ocular migraines without the headache. My eye doctor said they are sometimes also called retinal migraines without the headache. I never feel any pain, but I just get the temporary visual disturbances that come and go. I will see dark purple splotches on white walls at times. I sometimes also see flashing lights at the sides of my head and foggy areas that come and go. I was wondering if the sleep impaired breathing that Pompe often causes can cause this? I couldn’t find anything on the internet about this, but I just thought you might know.

    I will let you know when I get my test results. I hope you both are doing well! Donna

    1. Hey Donna!

      I have never heard of Pompe causing those kind of headaches, but it is such a rare disease there is a lot we still don’t know. The most common headaches are feel like a lot of pressure is being put on your head, which is what I had. The lower oxygen levels could tigger other types of symptoms, I would imagine, including the headaches you are getting – I just don’t know, but it seems that just about any type of variation on the most common symptoms is possible.

      When are your test results due?

      Monique

      1. Hi Monique,

        Lee Ann at Dr. Byrne’s office said that it could take two to three weeks for the test results to be in. My blood was received at the Seattle children’s hospital on January 26th. It will have been three weeks this coming Wednesday. Lee Ann said that either she or Sarah will call me when they get the results. I’m so nervous! I just hope I get an answer. If I don’t have Pompe, then it must be something that causes the same symptoms. My doctor said that some mitochondrial disorders share some of the same symptoms as Pompe. But mitochondrial disorders are extremely difficult to test for. And I don’t think there are treatments for most of them. But I’ll just have to wait and see what my test results show.

        Thanks again for all of your support! I hope you are doing well. I read about how you and your father took the Disney cruise. That must have been so much fun! Well, bye for now, and take care! Donna

    2. I haven’t heard of Pompe being related to those problems either, but we are all different and there’s a lot of variability between patients. My understanding is that the breathing problems, though they can certainly cause low blood oxygen, also cause higher than normal carbon dioxide. That’s what is usually responsible for the headaches that many of us have when we wake in the morning. It’s also the reason why it’s not always a good choice to put us on oxygen as that does nothing to help clear the CO2. I was asked many times about morning headaches and now I know why. They were indirectly checking that I was breathing okay at night.

      During the period when they were trying to diagnose me, I remember them talking about mitochondrial disorders. I was tested extensively, so I assume I was tested for those things as well, but I don’t really know. When they finally tested me for Pompe, it was pretty much the last thing to check for!

      I’ve been thinking about you Donna. This could be the week that you get an answer! Take care.
      Brad

      1. Hi Brad,

        Tonight, when I went to the computer, I saw an e-mail from Lee Ann at Dr. Byrne’s office. She said that my test results showed that I do not have Pompe. She sent me a copy of the test report. It said that the normal range for the enzyme is between 24 and 94. Mine was 111. I’m devastated and more depressed than I can describe because I still don’t have an answer, and since it’s not Pompe I would not be a candidate for the Lumizyme. I guess all I can do now is to see the neurologist I was referred to and show her the test results. I was told that she will probably do a muscle biopsy on me. If so, it will be my third since 1992. The biopsy in 1998 was abnormal and showed neurogenic atrophy, but they weren’t certain what was causing it. I’m so afraid that if I have another biopsy it will show the same thing, but they still won’t know what is causing it. But I will have to at least see the neurologist and see what she says. If she doesn’t know what is wrong, then I will just have to give up hope of ever getting a diagnosis.

        Thanks for thinking of me. It’s really been nice having you and Monique to talk with. I’m so glad that you both got a diagnosis. I hope I will some day, but right now it doesn’t look like it. I’m trying not to be too depressed over this,l but I am. I have not been able to stop crying, and my mother is also very upset. We had hoped so much that it was Pompe so that I could get better with the Lumizyme. I guess whatever is wrong with me is all in God’s hands. I will see the neurologist and see what she says. Thanks again for your kindness and support. I’ll let you and Monique know what the neurologist says. Bye for now, and I wish you the best always! Donna

  11. Hi Monique,

    Tonight I read the e-mail from Lee Ann at Dr. Bryne’s office. She said that my enzyme levels were normal and that I do not have Pompe. My levels were 111, and it said that the normal range for the enzyme is between 24 and 94. I’m trying not to be too depressed, but I can’t help it because I had desperately been hoping for an answer. My mother is also very upset. Since it’s not Pompe, I would not be a candidate for the Lumizyme. I had such high hopes that it could have caused me to improve. All I can do now is to see the local neurologist I was referred to and show her the test results. I will probably have to have another muscle biopsy, which will be my third since 1992. I fear it may be a waste of time because they didn’t know how to explain the atrophy in my 1998 muscle biopsy. But I will see the neurologist anyway because I don’t know what else to do.

    I’ll let you and Brad know what the neurologist says. Even though I don’t have Pompe, I will still continue to read you blog. It’s very interesting. It’s been really nice having you and Brad to talk with. You are both so nice, and I really appreciate all the support you both have given me. Well, bye for now. Take care, and I wish you the best always! Donna

    1. Wow. My heart sank when I read that and I can’t even imagine how you are feeling. I do appreciate you taking the time to update Brad and I. This news is understandable upsetting, but you cannot give up. Promise me that you won’t. Your Pompe test results just might help the doctors with their detective work. Let me know what your local doc says, and I will not be surprised if he/she suggests you are seen at the Mayo Clinic. That would actually be a good thing, more minds working together to solve your case all in one place who have seen some of then rarest comnditions.

      I wish you all the best in your quest for answers, and please keep me posted and let me know if there is anything I can help you with.

      Thinking of you,

      Monique

      1. Hi Monique,

        I promise I won’t give up. I wish I could go to Mayo, but my mother and I just don’t have the money, and I doubt that they would accept my QMB (Medicare and Medicaid). I went to Baylor University in Houston in 1998, but the neurologist I saw there could not give me a definite diagnosis. I was using a walker then and was not in a wheelchair like I am now. He diagnosed me with mild ataxia (no balance), peripheral neuropathy, and neurogenic muscle atrophy, but he could not pinpoint the cause for these problems. Since I’m much worse now, maybe someone there might be able to diagnose me. I was told that there is an excellent doctor there who specializes in neuromuscular diseases. He is a different doctor from the one I saw in 1998. I’m going to ask Dr. Bryne is he might know of someone at Baylor who might be able to help me. If they accept QMB, then I could go there. It would be very difficult for me to get to Houston, due to being so sick. Plus, my mother is elderly. But we could somehow make it if we had to.

        I promise I won’t give up. Thanks again for your kindness and concern. I’ll let you know if I ever find out anything. I wish you much happiness always! Donna

    2. I’ve been anxiously waiting to hear from you Donna, but I was hoping that this was going to give you answers. It took me a few years to get diagnosed and that’s nothing compared to what you’ve gone through. It’s okay to be upset and to have a good cry. But then you have to muster your strength and fight. Pompe would have been an answer, but it’s not good to have. This doesn’t mean you give up. You can’t. You just can’t. Make sure your doctor knows you aren’t giving up. Turn this into motivation to fight even harder. There is an answer out there.

      Remember to talk to her about the respirator. You will be surprised how much it will help. Please do that right away so that you can get some good sleep. It’s so important. Don’t underestimate how much of a difference this can make.

      Thank you for updating us. Please keep doing that and never give up.

      Hugs, Brad

      1. Hi Brad,

        Thanks so much for thinking of me. I promise I won’t give up. Today I will make the appointment with the local neurologist I was referred to. I will be sure to ask her about the respirator you told me about. Even though I don’t have Pompe, I still could have sleep apnea. Or it could be something else that causes me not to breathe normally when I’m asleep. I’m still extremely depressed, but I’m hanging in there. I just so exhausted from trying to find a definite answer and getting nowhere. But I promise I won’t give up.

        I talked with Lee Ann at Dr. Byrne’s office this morning, and she said that in March I can have a phone conference with him. She is going to set up the date and the time. She said that Dr. Byrne would be able to advise me as to what else might be making me so sick. And I also talked with Raymond Garza from Genzyme. He is the one who had been helping me to get the Pompe testing. He said that he knows a good doctor in Austin who might be able to help me. He is going to e-mail their office and ask if this doctor might be able to help me. Due to me being so sick, it would be very difficult to go to Austin, but I might be able to do it.

        I know that Pompe is not a good thing to have. But I thought it would be better to have than many other neuromuscular disorders that are not treatable. I was just hoping for something treatable. But at least now I know that I don’t have Pompe. That’s one disorder that can be ruled out. Although I knew that Pompe could not explain all of my complex medical problems, including the balance problems, autonomic dysfunction, and my spinal degeneration and intermittent joint pain, I had though it might at least explain the proximal weakness I’ve had since age 15 and maybe also the sleep apnea and the way I get out of breath from doing little things. But apparently something else is causing all of these problems. Dr. Byrne told me that Pompe does not cause autonomic dysfunction or ataxia. Since age 15, I’ve had to take a beta blocker drug to control my severe postural hypotension where I feel like I will faint when I stand up. This drug also keeps my heart from racing. No one has ever been able to explain this autonomic dysfunction. I’m not sure if it is related to my other medical problems, but I guess it’s possible. I’m just a medical trainwreck! I feel like I’m a giant medical jigsaw puzzle with a million pieces and that someone threw it to the floor and scattered the pieces everywhere and that they will never be put back together again. But maybe Dr. Bryne will have some ideas as to what could be causing these multisystemic problems. He told me that Pompe does not cause autonomic dysfunction or ataxia (my lack of balance).

        Thanks again for thinking of me! I will keep in touch with you and Monique and let you know if I ever get any definite answers. Bye for now, and I wish you the best always! Donna

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