Pompe Disease awareness

Did You Know…

Pompe Disease does not occur in adults. What?!?! That is what a neurologist recently told a patient. Again….what?!?!

A few weeks ago I was contacted by one of my cruise buddies. She has a friend whose husband is suffering from a mystery disease and has been trying to get properly diagnosed for a couple of years. My cruise buddy listened to the symptoms and asked if the woman’s husband had been tested for Pompe Disease as some of the symptoms sounded like mine. My cruise buddy directed her friend to my blog. After the woman had sifted through my ramblings about everything from headaches to accessible travel she decided it was worth considering Pompe as a possible culprit.

Armed with her new knowledge of Pompe Disease, the woman and her husband asked his neurologist if he would test for Pompe. The doctor, a neurologist, told them that Pompe does not occur in adults, nor does any other form of Muscular Dystrophy.

And this is where we pause so you can take a moment and really let that last sentence sink in.

Pause over. WHAT?!?!

The woman and her husband immediately decided they needed a new doctor. Good call. Even if this patient does not have Pompe, a new doctor who is up to date on current medical information is in order. Or at the very least a doctor who knows how to use Google.

The woman asked my cruise buddy to get in touch with me. Through a series of phone calls and emails I was able to help the woman connect with some experts in her area. I also suggested she contact the Mayo Clinic in case their diagnostic journey does not end with Pompe. The woman, armed with new information and contacts took to the phones with all guns blazing. Within a couple of days she had secured her husband an appointment with a new neurologist (one who has diagnosed and treated Pompe patients), sent his medical records off to the Mayo Clinic, and contacted Genzyme. Whatever the outcome is for this family, I have a feeling they are in good hands now. I hope their diagnostic journey comes to an end soon, so their next chapter can begin: Fighting Back!

In order to help this woman, I had to relay the situation to my contacts at Genzyme. The responses I received back ranged from “Wow” to “I gasped out loud when I read that.” There is still so much work to do regarding Pompe Disease awareness and education. I have come across several doctors, either through my own experience or through stories relayed to me by other patients, who have little information about Pompe Disease. This is the first time I have heard of a doctor giving patients really, really wrong information about Pompe Disease. Scary.

Lessons to be learned here? We can never assume our medical professionals are up to date about everything, especially something as rare as Pompe Disease. It is imperative to do your research, be your own advocate, and get a second opinion.

Media Update and More

  

 

Just chilling at Epcot with my pal Barry - Dr. Barry Bryne that is! We had to wear shades so he wouldn’t get mobbed by his fans!

A few months ago producers from Ivanhoe Broadcasting paid me a visit at Celebration Hospital‘s Fitness Centre and Day Spa (one of my main stomping grounds for battling Pompe). They also interviewed Dr. Byrne about his role in our rare disease world. In case you didn’t know, Dr. Bryne is one of the leading Pompe researchers in the world and I consider myself one of the luckiest rare disease patients in the world to be under his care. The segment is scheduled to air on over 200 television stations across the country in January. I don’t know when or where it will air, but if you see or hear an announcement for “Cracking the Code: Pompe Disease” then that’s the one.

You can view the segment online by CLICKING HERE. You’ll have to sit through the segment on Tai Chi first, so don‘t think you‘ve landed on the wrong page. And be sure to pass the link on so we can continue to raise awareness!

I’ve also updated the page “M.E.G. & the Media” with this link as well as a new article from UF.

I’m off to Boston next week to meet with the wonderful folks at Genzyme. I’m going to give a speech at their annual marketing meeting. I’m excited to see the facility and meet with all the dedicated people who are making our lives better. I’ll have photos and updates soon. Wish me luck and warm(er) weather!

Thank you everyone for your continued support and interest!

Busy Times – Quick Update & Photos

 

I know, I know – I have lots to update you on, but very little time to do it. I will get around to posting everything as soon as time permits.

In the meantime, here is a quick update about one event this past week:

On Tuesday, Ramin and Darryl from Ivanhoe Broadcast News met me at the fitness center to interview me and get some footage of my physical therapy work. They also interviewed Dr. Byrne because they are putting together a piece on Pompe that will be sent to their 250 affiliates nationwide in early October. I’ll keep you posted about when and where it will air, but for now – here are some photos from the shoot.

September already?

 

“Where did August go?” I ask myself as I sit here and stare at my schedule for September which makes me want to schedule naps that I won’t be able to take until October. I’m super excited about everything that is planned for September, but I honestly don’t know how I’m going to survive it.

Oh my dear sweet Lumizyme, I'm counting on you to keep me energized during all of this.

I have three infusions in September along with trying to squeeze in as many physical therapy sessions as possible. I also have a couple of Pompe awareness events scheduled.

One of my sorority sisters is visiting Walt Disney World for a week. The day she leaves I fly to Washington DC to visit my best friend. Together we will cheer on another friend who is participating in the DC Short Film Festival. A few days after I return from DC I will head to the airport again for my annual father daughter trip. So I’ll have lots to update you on – when I get a chance.

I was so bogged down with pain for so long, while at the same time visiting multiple doctors trying to find out what the heck was wrong with me, this will be the first time I have really had the opportunity to travel in a very long time. I’ve had to schedule my infusions carefully around departures because my Lumizyme treatment is not something I care to miss. I will have to stick to my diet which could be a challenge away from home, but I’ll pack protein bars to help keep me on track. My physical therapist has been designing an exercise program I can take with me so I don’t fall behind. As difficult as it will be, the most important part is that my medical needs will be taken care of because they always take top priority.

With all of this going on, I will do my best to keep you posted on everything!

Pompe Power

 

The wristband says Pompe Power on one side and http://www.amda-pompe.org on the other.

When I visited with the Crowley family last month, they were kind enough to give me my very own Pompe Power wristband. I have worn mine everyday since – even to my sorority’s formal banquet last week! Hey, it was the same color as my dress.

They also told me how to order more wristbands and I just placed an order so I can hand them out to my friends and family. I’m sure some of you are wondering how you can order them too. I spoke with Marsha Zimmerman at the Acid Maltase Deficiency Association (AMDA) who handles the orders and she gave me permission to post the ordering instructions here.

To order online you will need a Pay Pal account. If you don’t already have one, it is easy enough to set up. You can also mail a check if you don’t have a Pay Pal account.

To order online:

Go to the AMDA website at: http://www.amda-pompe.org/index.php/main/

Click on the “Make A Donation” button in the upper right of the screen to make a donation for the amount of Pompe Power wristbands you would like. They are $1 each.

The site does not offer a way to distinguish between a general donation to the AMDA and purchasing wristbands. After you make your payment, email Marsha Zimmerman at zimmermanm@uthscsa.edu to let her know you placed an order for wristbands and let her know how many you ordered.

Once your order has been confirmed by the site Marsha will mail the wristbands to you. It is that easy! Soon you too will have your very own Pompe Power wristband.

To order by check:

Send a check made out to the AMDA for the amount of wristbands you would like ($1 each) to:

AMDA

PO Box 700248

San Antonio, Texas 78270

Be sure to include a note in the memo indicating the donation is for Pompe Power wristbands and then email Marsha to let her know the check is on the way.

Pompe Power!