Pompe's disease

It's been interesting today as I've been at work, I was able to take care of several patients that were outpatients. For those of you that aren't in the medical ring, these are patient that either have a minor surgery/procedure or infusion and then go home in the same day.

Well I had two infusion patients today that had enzyme replacements. One patient has Pompe's disease and has know since about 1997. This patient comes in every 2 weeks for about 5 hours of an infusion of an enzyme replacement therapy that is thought(still in research stages) to at least decrease the difficulties with Pompe's. (People with disease, have difficulty breathing and their muscle deteriorate and so it make them difficult to move around from place to place and some even have electric wheelchairs, if the disease isn't caught and treated.) But the patient still feels like his health is declining slightly, but doesn't dare stop the study because of how fast the decline
would be if he did. I didn't mention that the infusions cost about per infusion $30,000. And they get infused every 2 weeks, $60,000 a month, over $720,000 a year. Can you imagine!!! Crazy and the study doesn't pay for those infusion either!! Thank heaven for insurance!!

Well this patient helped me to learn all about this disease process, cause I haven't seen anyone with it and haven't studied about it since nursing school, but here at Pullman Regional, we are willing to participate with the study of the drug and the paperwork involved. People from several hours away will travel here to get the infusion, cause more local hospitals won't participate in the study and do the necessary work.

But it was interesting to hear from the patient about how there are lots of disease processes that have similar signs and symptoms that Pompe's does, So any of the muscular dystrophies, or even MS, have been found to be misdiagnosis at first. He even told me that infants that die of SIDS may have Pompe's too, cause of the difficulty breathing symptoms. Amazing! I had no idea, but after talking with the person, it make perfect possible sense. Not that I'm 100% convinced that all of these disease processes are really Pompe's. And all it takes to screen is a simple blood test. Now my friend Jade (HEY!!) just had an interesting post about what can possibly happen with blood draws from an experience with her husband. Sorry Ben!! But it's something to think about, and he asked me if I was going to have my baby tested. Gave me lots to think about, and for sure I'm going to ask the Dr. about it on Thursday!!