Last December

 

It was early December 2009, and my Aunt Jan and I were on one of my many medical adventures. We were in Rochester, Minnesota (during a blizzard) at the Mayo Clinic searching for answers. I have to give a shout out to my “Awesome Aunt” because she really came through for me. Not only did she battle a blizzard in our quest for answers, but she and my Uncle Gary battled horrible LA traffic and even a brush fire while ushering me back and forth to my UCLA appointments.
 
2009 was a really rough year, filled with pain, uncertainty, fear, and frustration. But as 2009 drew to a close the uncertainty eased up and led way to hope. The hope of a diagnosis and the hope of treatment. We left Minnesota hoping they could confirm the diagnosis of Pompe. I know that sounds strange to hope for a life-threatening neuromuscular condition, but at that point I was in so much pain and was going downhill so fast I needed something to hang on to, something to fight and Pompe was something I could fight.
 
As I look back on the past year, I can’t believe how different 2010 was from 2009 for me. In 2009, I was pretty much house bound because of the unbelievable pain and weakness I was experiencing. I only left the house for endless doctors appointments which always seemed to bring more questions than answers. I had to go on medical leave from my job. My deadbeat landlord stopped paying the rent on my condo, so I was forced to move in the middle of my ongoing medical mystery nightmare. Luckily, my dear friends helped me pack up, because there was no way I could do it myself in my weakened condition. Oh, and did I mention the air conditioning went out in the condo while we were trying to pack up my stuff – in the Las Vegas heat! Really? Yes, really. It is almost funny now – almost.
 
Early in 2010 my diagnosis was officially confirmed – the same week the movie Extraordinary Measures was released in theaters! I finally had the information I needed to fight back – to start rebuilding what Pompe had destroyed: my health, my independence, my optimism, my life.
 
Flash forward to present day and I’ve received 19 life saving infusions of Lumizyme. I have an amazing medical team who actually listen to me and work together to help me achieve each goal we set. I’ve met a wonderful online community of other Pompe warriors all over the world. I’ve been going to physical therapy and sticking to a high protein diet which combined with my infusion have resulted in regained strength and mobility. I’ve worked with both the MDA and Genzyme to help spread awareness about Pompe Disease. I’ve begun to travel again, making up for lost time.
 
As 2010 winds down, I have to wonder what 2011 will bring. There are new opportunities on the horizon for me to “educate” the community, which I will share with you in time. There are new drug trials and new therapies being developed. More attention is being paid to rare/orphan diseases which will result in more funding for research leading to new ideas and treatments…. And hopefully one day… a cure.
 

 

7 comments

  1. I feel very fortunate that the past year has gone well too. I can see the optimism in your words and it’s very nice to see!! With it comes responsibility, right? Everyone deserves the chance that we’ve been given. I remember you wrote three words once that still ring true… fight, fight, fight!
    … Brad

  2. Monique,

    What a year indeed! So many of us have followed this journey of sadness and pain to hope and obligation. Last Christmas was a bad one at the Crowley house, but this one will be cheerful. Not because of Pompe, but because of new friends, new found power, and a little bit of Lumizyme. We are lucky to have you in our lives. There are great things ahead. As Brad said, Fight, Fight, Fight!

    Best,
    Matt Crowley

  3. Hi Monique,

    I’m Donna Blackwood from Portland, Texas. I read the story about you on the internet, and I also read your blog. I was deeply moved by your story, and I’m so glad that you finally got a definite diagnosis. I can totally relate to your story because I have had Pompe’s symptoms since age 15. I’m 55 now, but I still don’t have a diagnosis. I’ve been considered a medical mystery ever since age 15. But I’m soon going to see my geneticist and ask if I can be tested for Pompe’s. I read about the Genzyme company, and I would like to have my blood sent there for the enzyme testing. I’m having progressive weakness, easy muscle fatigability, and severe pain in my upper legs when I walk even short distances in my enclosed Merry Walker with the seat in the back. The pain and weakness are so severe now that I no longer use the walker and use my wheelchair when I leave the house. I only walk short distances around my room while holding onto the bedrail. I have had ataxia and no balance since age 36, but I’m not sure if that is characteristic of Pompe’s. I am praying so hard that I will get a definite diagnosis. Perhaps I will turn out not to have Pompe’s, but a lot of my symptoms sure sound like it. I love your blog. I greatly admire your courage and strength! Well, bye for now, and

    1. Donna:

      I hope you find the answers you are looking for soon. Knowing really is half the battle, because once you know what kind of monster you are fighting you can use the proper weapons.

      Contact your local MDA because they might be able to help you with the testing for Pompe. There is a quick blood test that is usually sent to Duke for diagnosing Pompe. With your diagnosis in hand you can really start fighting back and the folks with Genzyme will help guide you through the process.

      Please keep in touch and let me know how you are doing. Never give up!

      Happy New Year!

      Monique

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s