The Mayo Clinic

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.

Waiting

My diagnosis is still unconfirmed. The Mayo Clinic is currently trying to strong arm UCLA again. They are trying to get them to release a muscle tissue sample so they can run their own set of tests on a raw sample in order to confirm a Pompe diagnosis. So that is where we are as of today. Waiting, again, but I’d rather be waiting with Mayo than with UCLA.

I’ll keep you posted.

i HEART the mayo clinic

I have just returned from The Mayo Clinic in Rochester, Minnesota. Not only did I survive the blizzard, but the tests and exams too. Mayo puts the care back in health care and puts UCLA to shame. In one week Mayo did more for me than UCLA has been able to do in the 7 or 8 months they have been screwing around with my diagnosis – which I still don’t have from UCLA, two months after they did a muscle biopsy. I guess UCLA gave up on my case because they sent the biopsy slides to Mayo and they are reviewing them right now.

My aunt and I arrived at The Mayo Clinic bright and early for my first appointment on December 3. We didn’t know it at the time, but that would be the first of three visits with the neurologist who is heading up my case. It would also be the first of about a dozen exams and tests I would undergo over the next few days. Just to give a little perspective, the neurologist at UCLA has been working on my case since May and has seen me a grand total of 3 times.

I spent about 2 and half hours with the neurologist going over my medical history and the most debilitating issues I am having now with mobility and breathing. He examined my strength, mobility, balance, etc. and then ordered up a bunch of tests and consults. We were then told to go back out to the waiting area where we would receive out itinerary, yes, itinerary. It was like the first day of class, we had a schedule of procedures and locations along with instructions about what would happen at each appointment – wow, actual information about what they are going to do to you, that is a first! That first day, I was poked and prodded with very little discomfort, pain, or bruising. I’ve had a lot of these tests before and until my experience with Mayo I thought some of these tests were simply designed to torture patients. Here’s a hint, never let a med fellow at UCLA perform an EMG. My first appointment with the neurologist was at 6:45 am and we wouldn’t be done with appointments until 5pm that night. My appointment schedule for the week included: electrocardiogram, chest x-ray, blood test, electromyography exam (EMG), echocardiogram, (the next day) more blood tests, MRI exam, another appointment with neurologist, just to check in. Then on Monday a pulmonary function test and a cardiovascular consult before meeting one final time with the neurologist to discuss the findings and a plan of action.

Let’s start with the good news: my mystery muscle disease has not damaged my heart. My heart is in perfect working order, my pulse can run a little high at times, but my blood pressure is completely normal. I’m to see a cardiologist once a year from now on to keep an eye on things, but since the condition has not attacked my heart at this point they doubt and hope it never will. Yeah me!

Now the bad news: as suspected the disease has attacked the muscles around my lungs making it difficult to breathe at times. We are going to have to keep a real close eye on that and I’ll need to see a respiratory specialist on a regular basis. But I kind of already knew that, so no big surprise there.

With some apparent arm twisting Mayo was able to obtain my muscle biopsy slides from UCLA and they are currently reviewing them with the hope they won’t have to submit me to a fourth muscle biopsy. Mayo was able to rule out all the usual suspects and has trimmed the list down of possible conditions to just a few with Pompe Disease being the front runner. After they review the biopsy slides I may have to go for a blood test to double confirm the diagnosis of Pompe Disease before treatment can begin. The best news I can hope for is that it is indeed Pompe Disease because it is the only condition left on the list that is treatable, not curable (at least not yet), but treatable. So fingers crossed that I have an extremely rare genetic muscle disorder! All I want for Christmas is a diagnosis of a treatable disease!

The neurologist is referring me to a colleague at the Jacksonville Clinic who specializes in muscle diseases and who will work with a team of specialists like cardiologists, respiratory therapists, physical therapists, and nutritionists to improve my quality of life. What a concept – communication and team work to best serve the patient. I never knew health care could be like this. UCLA can go pound sand!

So again I find myself waiting, but I feel I won’t be waiting for months or even weeks like I have in the past. I hope that they can confirm Pompe Disease so we can start treatment soon. It is really hard to believe that I may finally have a name for this monster that has been eating away at me and that I may be given the tools, support, and expert medical team I need to fight it. Then I will just have to convince my insurance company that Mayo is the place for me to entrust my life to and not UCLA – should I just send them a link to this blog?