M.E.G.'s Confessional

My Mystery Disease is Pompe

Summer Rewind

on October 12, 2011

Pompe Peep Brad, my Uncle Gary, me, my Aunt Jan, Pompe Peep Allyson, and my Dad at Epcot

Life is never dull and the last few months have been crazy busy. So crazy busy, that I am ridiculously behind on updating my blog. I have been traveling and entertaining guests here in Florida as well. I will do my best to catch every one up on my comings and goings… but offer no guarantees. Hold on tight because here we go…..

Since I last blogged, I have attended a couple of patient meetings. One in Tampa for Genzyme, which was a nice relaxing dinner meeting. Just me a couple of the cool peeps from Genzyme and two other Pompe families. I also spent a couple of days in California. The United Pompe Foundation  invited me to speak at their meetings in Los Angeles and San Bernardino. This gave me the opportunity to meet with some new Pompe folks as well as get caught up on all the research that is being done by Genzyme, BioMarin, and Amicus Therapeutics. The United Pompe Foundation had a great line-up of presenters, including a representative from Medic Alert. We have been working on coming up with the ideal text to put on a Medic Alert bracelet that can be understood by EMTs and emergency room doctors….all in only 75 characters. There is a lot to tell a medical professional in just 75 character, especially taking in to account that many will have no idea what Pompe is. We are closing in on text that all involved can agree upon and when that is settled I will post the information here.

With my friends Robyn and Matt at Disneyland!

Since I was flying all the way to California, I decided to extend my stay by a couple of days to catch up with some friends and hit up my old stopping grounds – Disneyland. Disneyland was where I spent most of my childhood and teenage years, it was the location of my first job. I worked at the restaurants in Fantasyland when I was in high school. The weather was great, I made new friends at the meetings, met up with old friends, got to enjoy In-N-Out and Disneyland – all in all, a wonderful trip.

Back home in Florida, I have had lots of visitors….well, I kind of had to share them with Mickey. It was like a rotating door of visitors. Family, friends from the transatlantic cruise, friends I used to work with, Pompe friends, and of course my most frequent visitor Lonnie. It never gets old showing people around Walt Disney World. Everyone should visit at least once in their lifetime.

With my cruise buddies playing trivia. Our "Smarticle" hats helped us win!

Speaking of cruise friends…a bunch of us got together and decided the first transatlantic Disney cruise was so much fun that we needed to do it again! So me and 20 or so of my closest and craziest cruise buddies headed to Barcelona, Spain in September for another 2 week adventure at sea onboard the Disney Magic. It was wonderful! Another adventure I highly recommend….take a long cruise once in your life. With all the hustle and bustle of our daily lives, it is nice to get on a cruise ship for two weeks and just let someone else take care of all your needs. And for those of you playing the home game, yes, that means I have spent 35 days on a Disney cruise ship in one year.

And now we transition to my latest adventure. On Saturday I will board a plane for the longest plane flight of my life – yes, longer than when I was flying to China from Las Vegas. I will fly from Orlando, Florida to Wellington, New Zealand. I have been asked to help the Lysosmal Diseases New Zealand (LDNZ) patient group with their campaign to secure funding for enzyme replacement therapy. I don’t know yet, exactly what they have in store for me, but I know it will involve the media and they are trying to secure meetings with political leaders. I will meet up with 4 New Zealand Pompe patients and we will do our best to convince the powers that be that ERT is life saving and it does make a difference. How can they stare ME in the eye and tell me it doesn’t work?

How can you help?

If you or someone you know has benefited from ERT for Pompe Disease, please let me know. Leave a short, but detailed comment about how ERT has saved and improved your life. I will take all these with me and share them with whomever will listen. I will be arriving in New Zealand on Monday and we will be hitting the media circuit on Tuesday, so please try to submit your testimonials over the weekend – while I am enduring the longest flight of my life. But it will be worth it if we can get them to approve ERT for our Kiwi friends.

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One response to “Summer Rewind

  1. Donna Blackwood says:

    Hi Monique,

    I love reading about your travels and all that you are doing to help spread awareness about Pompe.

    I still don’t have a definite diagnosis, but my doctor strongly suspects that I have some type of inflammatory, autoimmune myopathy because of my very high Sed Rate and the way I had a dramatic improvement when she put me on low dose Prednisone three months ago. It caused a dramatic improvement in the weakness in my upper arms, and I was also able to breathe better. But, unfortunately, it did not cause much of an improvement in my leg weakness. I’m still in a wheelchair. She is afraid to put me on higher doses of Prednisone because of the side effects. Already, I’m having some side effects, and I’ve gained weight–exactly what I don’t need! The Prednisone also caused the severe pain in my right sacroiliac joint to improve. She and my rheumatologist diagnosed me with a spondyloarthropathy. They said I don’t have actual Ankylosing Spondylitis, but that it’s something similar in the same family. It is fusing parts of my spine together. They said it appears that my immune system has gone haywire and is attacking not only my spine, but my muscles as well. They said that there are some inflammatory myopathies that cause only the Aldolase to be high, like mine is, and not the CPK. My CPK has never been elevated. They are called Immune mediated myopathies with perimysial pathology (IMPP). I don’t know if I have this, but my doctor said that a muscle biopsy should tell whether or not I do. She ordered for me to have one. I know that Pompe is not a good thing to have, but I think I probably would have been better off having Pompe than an inflammatory myopathy (if I do turn out to have one) because Pompe is not treated with Prednisone. I am terrified of the Prednisone because it causes such horrible side effects, including cataracts, glaucoma, osteoporosis, weight gain, high blood pressure, ulcers and G. I. bleeding, thinning of the skin and bruising, and many others that it would take too long to mention. I was told that I will probably have to remain on the Prednisone for the rest of my life. It has also caused my hair to dramatically thin. I know that Pompe is very serious, but I feel that I would have been better off having something like Pompe that is treated with enzyme replacement therapy. I am so afraid of Prednisone, especially since I will probably have to take it for the rest of my life. It is already upsetting my stomach. But I’m hanging in there the best I can. I’ll let you know what the muscle biopsy shows.

    I also tested positive for Lyme antibodies, and my doctor thinks I could have late-stage Lyme disease that I could have gotten from a tick that bit me way back in 1981. She thinks that could explain my ataxia and lack of balance and perhaps also the spondyloarthropathy and my muscle weakness. She said that Lyme disease can trigger any autoimmune disease. But I could not tolerate the powerful antibiotics for Lyme. They made me extremely sick, and I was told that I would have to take them for the rest of my life. I was told that the Lyme can never be cured, since it was caught so late, but that it could perhaps be knocked down a notch or two. But the antibiotics just made me too sick. I felt like vomiting every day. I just could not tolerate them, especially not for the rest of my life. It’s just in God’s hands. I’m just doing the best I can and praying a lot.

    Well, I better go now. Sorry this letter is so long! I’m so glad that you are doing well and have a definite diagnosis. I saw the picture of you on your recent blog, and it looked like Brad Crittenden was also in the picture. Please tell him I said hi! Bye for now, and take care! Donna Blackwood. P.S I felt so bad that I was unable to buy any of the Scentsy products to help out Allyson Lock and Brad Gibson. I very much wanted to order some, but scented products like that have never agreed with me. I’m very sensitive to scented things, and they will give me a headache and make me feel a little dizzy. Is there some way that I could send some money to Allyson and Brad? I could send a check to them. I really want to help them out. I think about them often. Could you please tell me where I could send them a check to help out?Thanks so much!

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