Why do I do this?

I had a patient meeting yesterday in Knoxville, Tennessee. It should have been a a fairly easy journey – famous last words. They loaded about 10 of us on the plane and the Captain makes the following announcement: “Well folks, I don’t have good news. (At least we were still on the ground – geez!). The mechanics have inspected the plane and have found a problem with our right engine. That is all I know, but it was fine all the way here. We have stopped boarding and if you feel like you want to get off the plane you are welcome to do so. I will know more in about 10 minutes, but please expect at least an hour delay.” 

Waiting.

“Folks, it is not looking good. This plane is grounded until at least 3pm.” (Which is about 6 hours after the scheduled departure.) I found out later that the engine had to be totally overhauled and that plane was expected to be grounded for 24-48 hours. Delta did live up to their name “Don’t Ever Leave The Airport.” Seriously, they did a good job in a stressful situation. 

I was supposed to arrive in Knoxville at 1:30pm for a 6pm meeting. Delta tried to reschedule me for a 6pm arrival. When I told them why that didn’t work for me they found room for me on a flight that arrived at 4pm. The meeting was not close to the airport so the driver took me from the airport, to hotel to pick up the folks from Genzyme, and we went directly to the meeting. I changed clothes at the conference center.

The flight home was much less eventful. Except for the guy next to me who kept dropping his phone on my foot. Ouch! And the lady behind me who kept digging around in the seat pocket behind me. Yes, lady, that is my butt. I was already groped by TSA, so I’m all set.

And oh yes, I had to change planes in Atlanta – which I also hate. Not so much changing planes, but changing planes in Atlanta. Ugh! 

All that travel drama turned out to be worth the trouble. There was a patient who was diagnosed in the 60’s with some sort of “glycogen storage disease.” This patient now has a Pompe blood spot test kit and is making an appointment with their doctor. There were other key moments of this meeting, but this was the highlight. I would not wish this disease on anyone, but if it is between Pompe and another cruel disease for which there is no treatment, I think Pompe is the lesser evil. 

I would have been gutted if the plane delays had caused me to miss this meeting. This could change the course of a person’s life. This is why I put up with air travel for one night away from home in 30 degree weather. 

I am now going to curl up in my own bed and sleep until I have to get up for my next presentation. Tomorrow. Gainesville. 

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3 comments

  1. Hi Monique,

    I really admire your dedication to spread awareness about Pompe Disease. I hope you are doing well. I’m not sure if you remember me, but I’m Donna Blackwood from Texas. I contacted you through your blog more than once several years ago. I contacted Dr. Barry Byrne in Florida, and his nurse sent a kit for me to have my blood tested for Pompe. After having my blood drawn, I sent this kit to Seattle Children’s Hospital, as Dr. Byrne’s nurse instructed me to do. The results came back negative for Pompe. I was very upset over still not getting a definite diagnosis, but at least Pompe was one illness that I could rule out. I will forever be grateful to you for mentioning Dr. Byrne to me and also to Dr. Byrne and his staff for their kindness and for helping me to get tested.

    I continued to search the internet in an attempt to find out what might be wrong with me. A few years ago, I read about Dr. Fran Kendall who is a famous biomolecular geneticist in Atlanta. She specializes in mitochondrial diseases and other genetic diseases. After reading about the symptoms of mitochondrial disease, I saw that I had many of them. These disorders are multisystemic and can affect the entire body. They can affect the muscles, brain, nerves, autonomic nervous system, gastrointestinal tract, heart, kidneys, and other organs. They can sometimes cause vision loss or blindness and hearing loss or deafness. They can sometimes cause dementia. They are usually progressive and can sometimes be fatal. Some people are only mildly affected, while others are severely affected.

    After realizing that I had many of the symptoms of mitochondrial disease, including gastrointrestinal problems since age 2, proximal muscle weakness since age 15, ataxia since age 36, intermittent myoclonic muscle jerks since my 30’s, autonomic dysfunction since age 15, and profound, debilitating fatigue, I contacted Dr. Kendall, and she agreed that my extremely complex medical history and multiple symptoms did sound suspicious for mitochondrial disease. My local doctor ordered some special genetic tests that Dr. Kendall recommended, and one test showed that I have a very rare mitochondrial mutation that I inherited from my mother. The mitochondrial DNA is always passed down from the mother to all of her children. Fathers cannot pass down any of their mitochondrial DNA. My mother shares some of my symptoms, but fortunately she is not as severely affected as I am. Because my mitochondrial mutation was a rare variant of unknown significance, Dr. Kendall could not say for certain that this mutation was causing my symptoms, and so she diagnosed me with “probable mitochondrial disease.” A lady I talked with over the phone who works for a mitochondrial disease support group told me that in mitochondrial medicine the word “probable” means “almost definite.” I wish I could have received a 100% definite diagnosis like you did, but having a probable diagnosis is better than no diagnosis at all. My rare mitochondrial gene mutation has also been found in several other symptomatic families and individuals, but I was told that the researchers have to find this particular mutation in many more families and people before they can say for certain that this mutation is deleterious. That could take years.

    My gene tests also revealed a mutation that can cause Central Core Disease of the muscles, which can sometimes cause the severe proximal muscle weakness like I have. But again, the mutation was a rare variant of unknown significance. The only way I could know for certain if I have Central Core Disease was to have a muscle biopsy, but the two doctors my doctor referred me to refused to do the biopsy. They said the risk of infection was too great. I don’t believe this, and my doctor and I were very upset that I wasn’t allowed to have the muscle biopsy. Now I will never know if I have Central Core Disease or not. I am too sick and don’t have the money to go to Baylor or anywhere else for a muscle biopsy. My gene tests also revealed that I am a heterozygous carrier for Spastic Paraplegia-7. My report says that my one defective gene for this disease could not cause any symptoms and that it takes two defective genes to cause the person to be affected. But I read on the internet that some carriers of this disease will sometimes show cerebellar and other neurological symptoms after age 50 (I’m 59), although they will never develop the full-blown disease like people with two defective genes will. Dr. Kendall thought that all of these mutations might be working together in synergy to make me so sick. I was extremely upset to learn that I have so many mutations! Dr. Kendall is an excellent doctor. She is brilliant, and she is also very kind and compassionate. She often sees patients that other doctors could not diagnose. I will be forever grateful to her.

    I’m much worse than when I last contacted you. My muscle weakness and the ataxia are worse, and I am now in a wheelchair all the time. I can only stand up for about one and a half minutes and only while holding on very tightly to the foot rail of my bed. On December 24th of 2014 I caught the Swine Flu which caused severe pneumonia that almost killed me. I stopped breathing and had to be resuscitated in the ambulance. At the hospital they had to put me in a drug-induced coma for over two weeks to get my lungs cleared out. When I awakened from the coma, my left arm and hand were partially paralyzed. A stroke was ruled out, thank God! The neurologist diagnosed me with Brachial Plexus Palsy, which he felt was secondary to the Swine Flu virus. I had to undergo extensive physical therapy, but now much of the strength in my arm has returned. My hand, however, has not improved that much. But I was told that it could continue to improve with time. I read that people with mitochondrial diseases are more likely to develop peripheral neuropathy from viruses than normal people are.

    I better close now. Sorry this is so long! I just wanted to say hi and to let you know what has happened to me since I last contacted you. I hope you are doing well. If you ever hear from Brad Crittenden (I’m not sure I spelled his name right), could you please tell him I said hi? Thanks! I contacted him through your blog several times in the past during the same time I was contacting you. I hope he is doing much better. Are you both still receiving the enzyme replacement therapy? I wish there was an enzyme replacement therapy for what is wrong with me, but unfortunately there isn’t. Bye for now, and I wish you much happiness now and always! Sincerely, Donna Blackwood

    1. Donna – I apologize for the delay in getting back to you. I have been neglecting my blog. I am glad you are starting to get answers. There are some indications or hints, no one will commit to it, that Pompe carriers can show symptoms too. So it doesn’t surprise me that they are basically telling you the same thing. Keep checking the Clinical Trials website (clinicaltrials.gov) for studies and utilize social media to connect to other patients who can help. Best of luck to you!

  2. Hi again, Monique,

    Sorry, but I made a mistake in my last post. I said that I almost died from the Swine Flu virus on December 24, 2014. But that is wrong. I meant to type that I almost died from the severe pneumonia the virus caused on December 24, 2013. Donna Blackwood

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