M.E.G.'s Confessional

My Mystery Disease is Pompe

About M.E.G.’s Confessional

 
I was diagnosed with Pompe Disease in January 2010, after having been misdiagnosed with Inflammatory Myopathy for years. The blog begun as a way to keep my friends and family informed of my medical “adventures” along with providing me a creative outlet.It has evolved into a place where others who have been touched by Pompe can go to seek information and reassurance they are not alone in this fight, and to raise awareness about this condition. And it is a fight – I am fighting Pompe, I am not suffering from it.

Keep Fighting!

When I was first diagnosed, I found there was very little information out there for patients. It is my hope that this blog will provide information and hope for those with Pompe and their families. While the main focus of this blog will be about Pompe, others with mobility issues may benefit from my entries on accessible travel.

You can follow me on Twitter @MElizabethGr.


28 responses to “About M.E.G.’s Confessional

  1. Amy says:

    Greetings! Just wanted to stop by your blog to show my support before sending out a notecard! Excited about becoming penpals.

  2. Ismael says:

    Hi, MEG (please don’t mind me calling you MEG)

    I just became a reader, and I’ll be one more that keeps around and show support.

    I wanna say how awesome you page is and how moving it can be to pompe patients and families. Keep it up! :)

  3. Brad says:

    It’s pretty amazing how a situation that, quite honestly sucks, brings out the best in people. Your honesty and attitude are inspiring.

    From one twisted gene to another, thanks for confessing!

  4. Kent Hilton says:

    I am trying to get infusions for the winter, but can’t find a hospital who carries the drug and will bill under Medicare Part B. Any suggestions? I am in the Ocala area.
    Thanks.

  5. i not get it that what mean of “keep fighting”?? please say me anyone who know that and can do explain it..!

    • purplelv93 says:

      Hi Vishal:

      I say Keep Fighting because everything with Pompe (or any medical condition, really) seems to involve a fight. It could be for a diganosis, for treatment, to regain strength, to be released from the hospital, to fin specialists who understand and who have heard of Pompe, or even to raise awareness. I encourage people to keep fighting so they don’t given up because it can get really hard to keep going sometimes. Keep fighting is just another way to say never give up. I hope that makes sense.

      Monique

  6. Stacey Hunt says:

    I just wanted to know what type of pain you were having when you were diagnosed with Pompe. I have MD and am just starting the testing process for Pompe. I was diagnosed over 11 years ago, so you can imagine my frustration in not knowing exactly what I have for all these years! Just curious what pain you were having and if it’s similar to mine. Thanks and God bless you!

    • purplelv93 says:

      Hi Stacey!

      The pain I had was achy, dull but strong achy pains in the muscles in my upper legs, upper arms, and back. The of course the headaches from the lack of oxygen I was getting at night. What is your pain like?

      So, were you misdiagnosed 11 years ago and now they are testing you for Pompe? What was you original misdiagnosis?

      Please keep me posted on your progress and let me know if I can help in any way.

      Monique

      • Stacey Hunt says:

        I was told I had scapuloperoneal syndrome. I had my one and only daughter by natural childbirth because I didn’t know anything was wrong with me. I couldn’t lift my arms for weeks afterwards. It was scary. Then the difficulty climbing stairs started. Pretty much downhill from there! I have occasional headaches and severe pain in my left ribcage due to the scoliosis.

        Do you have the respiratory and/or cardiac problems as well? I don’t so far. Hoping I don’t!

        I just happen to come across the clinical trial info in the Quest magazine. I emailed someone in New York and he sounded like it may be Pompe. I seem to have all the symptoms except the respiratory and heart. Have developed a nighttime cough that may be something to worry about though.

        Have you gained strength on the enzyme therapy or has it halted the progression in any way? Sorry to be so nosy! I’m very curious what I may be in for.Thanks and God bless!

        • Stacey Hunt says:

          P.S. You live in Florida? Isn’t it wonderful here?! I live in Port Saint Lucie Florida so maybe we can meet sometime. We are actually planning a second trip to Universal in a couple weeks for our daughter’s 12th birthday. Went last year before they finished the Harry Potter part. Excited to see it!

        • purplelv93 says:

          Hey Stacy!

          I don’t have any cardiac problems, those issues usually only show up in the really young patients. I have had respiratory issues, but they are much better since starting Lumizyme. I’ve also been able to slowly regain some strength with diet and excise as part of my treatment plan. I’m not gonna lie, it is tough, but with the Lumizyme it makes it possible to fight back.

          Are they currently testing your blood for Pompe?

          Monique

  7. Antoinette Davi says:

    I saw your article in Quest, I recently did the blood work for Pompe’s disease and am waiting for the results. I have had three biopsies so far with no diagnoses. I was wondering if you could describe your symptoms and how the treatment has been working for you.

    Thanks,
    Toni

    • purplelv93 says:

      Hi Toni!

      I would be happy to share that with you, but please keep in mind that everyone is different and symptoms can manifest themselves differently and the treatment outcomes also vary from person to person.

      I had severe daily headaches that like there was a lot of pressure on my head. I was having trouble breathing, it felt like my chest was bound and I had developed a cough. I had massive muscle aches in my arms, legs, and back. I have trouble with stairs and getting up from a seated position. A few months after I started Lumizyme the headaches and pain pretty much went away. Through diet and exercise I have been able to slowly regain strength. I still struggle with stairs and chairs and get fatigued easily, but I am doing a lot better since starting treatment. Hope this helps.

      Let me know if you need anything else and please keep me posted about your diagnosis.

      Monique

      • karen bragg says:

        Hi Monique! I hope you are doing well, and that you have a very Merry Christmas!!! I was diagnosed with Pompe in March 2011. I also receive Lumizyme treatments every 2 weeks. So far, they are doing the job, in that the disease does not seem to have progressed any further. I also have difficulty with climbing stairs, and cannot get up from a seated position without assistance. I use a bipap machine and oxygen concentrator at night to sleep. I have a weak diaphragm and get out of breath easily, as well as getting tired while doing things during waking hours. I read in one of your blogs that you are on a strict low carb diet, and that you are doing exercises. If, possible, please share as to what your strict low carb diet consists of, and what type of exercises are helping you regain some of your strength, especially any that are helping your breathing to improve. Thank you so much for your help! I am so glad you started this blog site! It truly is a source of encouragement!!! Sincerely, and may God bless you! – Karen

        • purplelv93 says:

          Hi Karen!

          As far as diet, I try to limit my carb I take to about 5-10% of my daily food intake. However, most studies show 30% is appropriate. I limit mine so much so that when I travel, I can indulge a little bit. For exercise, I work with a very talented physical therapist who was familiar with Muscular Dystrophy but not Pompe. She did some research on it and worked out several routines that I can do on my own including when I travel. I was so weak when I first started they put me in the pool to begin with. I know have exercises I can do in the gym, the pool, at home, and when I travel. As far as my breathing, mine improved after several months of ERT. My breathing is actually not that bad, for a Pompe patient that is. I don’t use bi-pap. I do however, now use a repriatory trainer as part of a clinical trial/study. And I have a couple of breathing exercises I can do in the pool.

          It is best to talk to your doctor about starting any kind of excise program. Don’t be afraid to ask for a referral to a physical therapist, many doctors don’t automatically suggest it to Pompe patients as most know very little about the condition.

          Monique

  8. Ken Munroe says:

    Hello Monique:

    I had the pleasure of working on the recombinant enzyme replacement therapy that became known as Myozyme. Even though my role was small, I worked on finding a method to reduce neutralizing antiobodies against Myozyme which eventually ended up being used in the clinic. Seeing videos of children, who were once intubated now able to walk, play and climb stairs literally brought tears to my eyes. When working in the lab it can sometimes be easy to forget what we are working for, the patients. Thank you for being an advocate for Pompe patients and I wish you the best.

    Ken

    • purplelv93 says:

      Hi Ken!

      Thank you for your kind words. And thank you for the work you did on what for me has been a miracle treatment. The progress that has been made to help Pompe patients has been amazing and there is so much hope of more to come. Please don’t ever belittle the contribution you made to this important breakthrough. Everyone who plays a part in the process is important. I appreciate and admire the work you do more than I can possibly express. I have toured the labs and bioreactor facilities and can totally understand how those environments can create a disconnect. But I for one, hope to never feel disconnected from the many people who worked so long and so hard to create something that allows me to live with and fight Pompe. Thank you!

      Monique

  9. This is very inspirational that you share your stories on your blog. Keep fighting!

  10. Heather says:

    Hi Monique,
    I have been having Muscle weakness for about a year now, it started to really show after I had my daughter in December, but when I was pregnant I was having problems falling alot and a little weakness. My neurologist here in York, PA diagnosed me with myositis but also refferred me to Hopkins for a second opinion. The first doc at Hopkins said he thought it was ALS but my EMG was normal so he sent me to see an ALS specialist who repeated the EMG. He tested me for many things, Pompe being one of them. The DBS was positive. When he called me with the result, he said he wanted the DBS repeated and then sent to gene sequencing. He also said that my EMG indicated some nerve damage and that didnt quite fit the Pompe’s diagnosis. So now Im waiting. . .again! Any idea how long the gene sequencing takes? I assume its pretty long! And how reliable is the DBS, I havent really seen too much about it? Im just trying to keep myself sane through all of this and thought you might know some more! Thanks!
    Heather

    • purplelv93 says:

      Hi Heather! I’m not sure how long the gene sequencing takes, it depends on how backed up the lab is. Do you now where they sent your blood? Duke? I don’t remember mine taking very long – a couple of weeks. They should have given you a copy of the lab order and there should be a number on there, you can call the lab and ask for a time frame. The DBS is fairly reliable as far as I have heard,(if it is done right) it is not a definitive diagnosis as you know. If you are looking for even more information on patient support and Pompe, I suggest you visit the Genzyme website for patients (http://pompe.com) as well as the United Pompe Foundation (http://www.unitedpompe.com) site and the AMDA (http://www.amda-pompe.org) site. I hope this helps, please let me know if there is anything else I can do for you.

      Monique

      • Heather says:

        Thank you! I didnt even think to look for a number on the lab slip! They are sending it to Duke. The first DBS was done at Emory Genetics Lab. After all this waiting without a diagnosis, a couple weeks should be nothing, but it seems like forever! Thanks for all the info, Im sure once I get a diagnosis, I’ll have a lot more questions!
        Heather

  11. Brandon says:

    I have just been diagnosed with Pompe disease and now I have some choices to make. Right now I work full time but physically I am the worst I have ever been and I fear that work is no longer a possibility. I have not started my treatments yet but am hoping to soon. Do you work or is work to demanding even with the infusions? I do have insurance right now and im kind of worried if I stop working and loose my insurance finding coverage for the treatments will be difficult. If there is any advice you have it would be greatly appreciated.

    Thank you, Brandon

    • purplelv93 says:

      Hi Brandon,
      Welcome to the weird world of Pompe. Everyone is different in regards to their journey and their struggles with work and insurance and balancing life, but you are not alone. I suggest you take to Facebook and join some of the support pages there as the question about how long to keep working is often discussed there. Worries about insurance coverage are common also, for that issue, I suggest you reach out to your Genzyme Case Manager. If you are in the process of setting up infusions you should have been assigned a Case Manager who can help navigate you through the complicated world of insurance. Please utilize this resource, I would be lost without my Case Manager. Good luck, I hope to see you on Facebook!

      Monique

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