Coming Soon…

 

With my “Pompe Peeps” in London, March 2011. From left to right, me, Sam, Ben, Ashley. We had authentic Dim Sum in Chinatown - including chicken feet that Ben ordered and actually ate!

That’s right, this is another quick update and preview of information to come because my schedule is jam packed right now. I just returned from a trip to Europe with my friends Lonnie and Traci so there will be some Accessible Travel postings. While on my European adventure, I had the pleasure of meeting up with fellow Pompe warriors Sam, Ben, and Ashley in London as well as visiting the hospital in Amsterdam where Dr. Johannes Pompe worked. I have my 27th infusion tomorrow and then I will attend a patient meeting in the evening. On Thursday I fly to Boston to meet with Genzyme’s Patient Advisory Board and I will spend a few extra days exploring Boston with my best friend.

Other than being extremely exhausted, I am doing well and still fighting the good fight.

8 comments

  1. Way to Go Monique!
    I am glad you had a great trip and were able to meet up with some POMPE PEEPS! I think that is the best! I know how much that means to my girls!
    Can’t wait to hear more about the marriage proposals…too funny!
    Donna

  2. Monique,

    Glad to see you are doing well and had another adventure! I miss hearing about them!

    Ronda
    Your Former Nurse:)

  3. Hi Monique and Brad,

    I’ve been meaning to write sooner. I didn’t want you to think that I had forgotten you. That will never happen!. I hope you are both doing well. I was so happy to read that Brad Gibson and Alyson Locke are receiving the Pompe enzyme replacement therapy. How are they doing? I hope so much that their muscle weakness is improving. I can imagine how very difficult it must be for them to be separated from their families.

    I still don’t have a diagnosis. A while back, my rheumatologist referred me to a local neurologist. But this neurologist refused to see me because she said I was “too complicated.” This neurologist recommended that I see another neurologist who would be better able to diagnose complex cases like mine that involve muscle weakness and the other neurological problems I have. But I’m too afraid to see this other doctor because I have heard very negative things about him. I just do not feel comfortable seeing this doctor. I also heard that he is not friendly. I’m not trying to judge him, but I don’t want to see a doctor who might not take me seriously or might be sarcastic towards me. My rheumatologist then recommended that I go to Mayo. But that is impossible because my mother and I do not have the money, and I doubt that they would accept my QMB (Medicare and Medicaid). Plus, I’m too sick to travel. I barely even have the strength to get in and out of the car to go to the store or to my doctor’s appointments.

    My rheumatologist recently ordered some bloodwork on me that showed that my Aldolase muscle enzyme was elevated. It was supposed to be no higher than 7.5, and mine was nine point something. I can’t remember the exact number, but it was almost ten. She said that this was only a slight elevation but that it does indicate that I have some type of muscle damage going on. Strangely, my CPK has always been normal. But she said that this sometimes happens and that only the Aldolase will be elevated in certain disorders. This is why she wants me to see a neurologist. She said I will most likely have to have another muscle biopsy. My Sed Rate was elevated at 58. I think it’s supposed to be 10 or below. She said this indicates inflammation in my body. My Sed Rate has been elevated ever since my early 20’s, but they never could explain why.

    I have been doing tons and tons of research on the internet. I often stay up until five in the morning doing research. It is exhausting, but I feel that I have to do it. I’m not trying to diagnose myself, but a few months ago I looked up some lysosomal storage diseases. I know that Pompe is one lysosomal storage disease, but my Pompe enzyme testing was negative, and so I know I don’t have that disorder. I will forever be thankful to Dr. Byrne and his staff for helping me to get the Pompe testing. They are all so kind and compassionate. They are wonderful people. I promised Lee Ann Lawson (his nurse practitioner) that I would let them know if I ever get a definite diagnosis. While I was doing research, I came across Fabry’s disease, and I was shocked to see that I have so many of the symptoms. I have about all of the symptoms, except for kidney damage. As far as I know, I don’t have kidney damage, but I read that women who are Fabry carriers sometimes do not have kidney involvement. Or they may have mild kidney damage. The man at the Fabry Foundation also told me this. Sometimes women won’t develop kidney problems until many years later. Fabry, which is X-linked, is much more variable in women than it is in men because women have two X chromosomes, and the extra X will often compensate to make up for the defective X. But since men only have one X chromosome, they usually have more severe Fabry symptoms, including kidney damage. I read that some women Fabry carriers have no symptoms whatsoever, while others will have mild, moderate, or severe symptoms. It’s so variable in women. Fabry is caused by an enzyme deficiency (Alpha Galactosidase A). This deficiency causes a particular kind of lipid (I forget the name of it) to accumulate throughout the body. It’s a multisystemic disorder, and it can affect the peripheral, central, and autonomic nervous systems. And it often also affects the gastrointestinal tract. I was told in the past that I have malfunction in all of these systems. This lipid that is not being broken down can also accumulate in the muscles, causing muscle weakness. I read that it can even cause the proximal muscle weakness like I have! But I don’t think that Fabry damages the muscles quite as severely as Pompe does. The CPK is usually not elevated in Fabry. I did a search to find out if Aldolase is elevated in Fabry, but I couldn’t find anything. I guess only a Fabry expert would know this.

    When I was 15, I was diagnosed with autonomic dysfunction with severe postural hypotension, but they never knew the cause. I have to take a beta blocker drug for this problem, or I will almost faint when I stand up. Age 15 is also when the stabbing and stinging pains in my hands, arms, feet, legs, and trunk began, but no one could ever explain it. They just said I had peripheral neuropathy, cause unknown. No one could explain the proximal muscle weakness I developed at age 15 either. At 15, I also developed severe G.I. problems and would always feel very sick after eating. I’m still that way today, but it’s much worse now. I get sick no matter what I eat. Then at 36, I suddenly lost my balance, but the neurologist did not know why. He told me that although my MRI did not show a stroke that I still could have had a small stroke, which sometimes don’t show up on MRI’s. They are called Cryptogenic strokes. I read and was told that Fabry can cause these hidden strokes, as well as more severe strokes. This is because the unmetabolized lipid accumulates in the walls of the blood vessels all over the body, including the brain. These type of hidden strokes can cause the ataxia (lack of balance and coordination I developed at 36). Seven years ago, I was told I have mild left ventricular hypertrophy (enlargement of the left ventricle). I read that Fabry also causes this! I also have some small reddish bumps on my upper abdomen, which I read that Fabry can cause. And so does my mother, only hers are larger. I’m not certain yet, but these look like they might be the angiokeratomas that many Fabry patients develop. They are actually dilated blood vessels beneath the skin, due to the damaged capillaries that Fabry causes. Maybe they are not angiokeratomas, but they look very similar to the pictures I saw on the internet. My mother also has some Fabry symtoms, including autonomic dysfunction, chronic G.I. problems like me that she’s had for many years, and severe peripheral neuropathy in her feet and lower legs. She often feels intense stabbing pains in her toes and feet, and crawling sensations in her lower legs. Sometimes the stabbing pains are so severe that she has to use a cane to walk. Her doctor can’t explain this neuropathy. For many years, my mother and I have had intermittent vertigo attacks, which are also typical of Fabry. We both also have really bad tinnitis (ringing in the ears), which is also typical of Fabry. I’m thankful that my mother does not have ataxia like I do. And I read that Fabry can also cause the severe swelling in the feet, ankles, and lower legs like I have had for about seven years. It’s really severe, and my feet and legs look horrible now. I used to have slender feet, ankles, and legs, but no more! They are now so ugly looking that I always wear long dresses to cover them. I was told that it looks like I might now have Lymphedema, which is severe swelling, due to blocked lymph glands in the feet and legs. Fabry can cause this also! I read that the unmetabolized lipid accumulates in the lymph glands of the legs and blocks them, often causing Lymphedema. I also have very dry skin and itching all over. I was told that Fabry can cause dry skin like this because the unmetabolized lipid blocks the sweat glands, which causes dry skin. Since 2004, I have had intermittent attacks of severe pain in my hands during the cold winter months. About two months ago, during a cold spell, my left palm turned very red, and I had excruciating pain it. I could not use my hand at all for four days. But my tests for Lupus, RA, and Scleroderma are always negative. This has baffled my doctors for years. Cryoglobulinemia was ruled out. I read that Fabry can cause this type of joint pain that can worsen with cold temperatures. I read that it can cause “cystallopathic arthropathies.” My rheumatologist told me years ago that she suspects I may have some cyrstals in my joints that are causing this severe cold-induced pain. But she wasn’t certain what type of crystals. Gout was ruled out. Fabry can cause this cold sensitivity and joint pain like I have. It can also cause heat sensitivity, which I’ve had since age 15. I could never stand to be outside in the heat. I always felt like I was burning up. And now, whever I get hot, such as when our air conditioner is temporarily turned off, my palms will turn red, and I will feel a vibrating sensation in them. This will disappear after the A/C is turned back on. All of this is typical of Fabry. I was just floored when I read all of this, and I went and showed this information to my internal medicine doctor and to my rheumatologist. They said it seems very likely that my mother and I might have Fabry, and they urged me to get tested. My rheumatologist said, “Go for it! I would advise you to get tested as soon as possible.” It could turn out that I do not have Fabry. I’m not saying that I have it. But I think that I should get tested, since I have so many of the symptoms, and my mother’s has some. I will never know unless I get tested. If I never got tested, there would always be this nagging doubt at the back of my mind that would haunt me forever. I would always wonder, “Do I have Fabry or not?” I want to get tested not only for my sake, but also for my mother’s sake. She also needs to know if she has itt. I have far more symptoms for Fabry than I do for Pompe. For Pompe, I had the proximal weakness and possible sleep apnea. But Pompe does not usually cause the stabbing nerve pains and other problems I mentioned that Fabry can cause. I read that Fabry can also cause sleep apnea! I read that it can damage the part of the brain that controls breathing during sleep. One quote I read on the internet said “With Fabry, anything is possible.” It can cause just about anything be cause it’s so multisystemic.

    Fabry can also cause the abnormal brain MRI I had in 2007. I showed “possible ischemic small vessel disease.” This is also typical of Fabry.

    I read that Fabry can also cause autoimmune disease. I was told that the unmetabolized lipid accumulates all over the body, which causes severe inflammation. This can cause an immune response, which over time can result in autoimmune disease. I read that Fabry causes an elevated Sed Rate, which I have had since my early 20’s, and I also read that it causes an elevated C-Reactive Protein, which I developed about 15 years ago, but no one could ever explain why. Over the years I was told that I seem to have some type of autoimmune disease, but no one could ever pinpoint which one. All of my doctors have been baffled. One even told me years ago that I was the most complex and complicated case he ever had. I can’t help wondering if Fabry might explain this mysterious autoimmune problem? And my other symptoms as well.

    I read that Emory University in Atlanta has an excellent lysosomal storage disease lab. I called and talked with a very nice lady named Dawn Laney who works there, and she sent me a kit to have my blood tested for Fabry. I will have my blood drawn and sent to Emory this Wednesday. They will measure my enzyme levels and do the DNA testing. If the regular DNA testing is negative, they will do the deletion/duplication testing. Women Fabry carriers often have normal or near normal enzyme levels, and so DNA testing is often the only way to identify Fabry disease in women. Some women Fabry carriers will have low enzyme levels, but not very many from what I was told. I have talked to so many people about Fabry and all of the symptoms I have. Everyone I have spoken with agrees that I have many of the symptoms. Perhaps I will turn out not to have Fabry. I just don’t know yet. I would not want to have this horrible disease, but if I do have it I want to know. If I do have it, it sure would explain many of my health problems, and my mother’s also. I will just have to wait and see what the testing shows. It will take about six weeks. And if they have to also do the deletion/duplication testing, I’m guessing that it could take another six weeks. But I willing to wait for however long it takes. Fabry is treated with enzyme replacement therapy. It’s called Fabrazyme, and it’s an I.V. infusion. I talked with Raymond Garza from Genzyme, and he agreed that I have many of the symptoms. He said that he will help me to get the Fabrazyme if I do turn out to have Fabry. He is very nice and has been so helpful.

    I will wait until after I get the results of my Fabry testing before I see a neurologist. If I do have Fabry, this would give the neurologist a lot to go on.

    If I turn out not to have Fabry, then I think I will have to admit defeat and give up trying to find an answer. It’s too exhausting doing endless research night after night on the internet, and I will no longer have the money for further expensive testing. I’ll let you know if I do turn out to have Fabry. If I do, my mother will also be tested. Sorry this is so long! I just didn’t know how to explain everything I read about and was told in a few words. I will try very hard to make my next post much shorter. I hope you both are doing well. I do think of you often! Bye for now, and take care! Donna

    1. Wow! Donna – it is great to hear from you and I am glad you continue to search for answers. What a journey! I know it is frustrating and scary, but I can tell you that knowing what the name of the monster is better than not knowing. That way you know whether to fight it with silver bullets or sunlight and wooden stakes.

      I know there are medical professionals out there who read this blog and the comments – if anyone has any advice for Donna, please let me know and I can help you get in touch with her.

      Monique

      1. Hi Monique,

        Thanks so much for asking if any medical professionals who read your blog might have any advice for me. I will greatly appreciate any advice anyone can give me. I wish I wasn’t such a complex case. I love reading about your trips and adventures! Going to London must have been so much fun, and it’s great that you got to meet other Pompe people. My blood was delivered to Emory’s genetics lab this morning for the Fabry enzyme and DNA testing. It will take four to six weeks, and even longer if they have to also do the deletion/duplication testing. But I will wait for however long it takes. I have read very good things about Emory, and they have an excellent genetics lab and lysosomal storage diseases lab. I’m so relieved that my blood got there okay.

        Do you know how are Brad Gibson and Alyson Locke doing? I hope so much that they are improving with the enzyme replacement therapy. I had seen a video about Brad Gibson several months ago. I am praying for him, Alyson, and their families.

        If I do have Fabry, it would be the answer to most of the medical problems I’ve had since age 15 and perhaps even since age 4. I forgot to mention that when I was 4, I suddenly had an attack of excruciating pain in my legs. It was so severe that I could not walk, and my father had to carry me into the doctor’s office. The doctor wasn’t certain what was wrong. They gave me some injection, and I was fine a few days later. My mother said that I had not fallen or injured myself at all. This has been a medical mystery all of my life. I read that Fabry can sometimes manifest in early childhood with mysterious pains like this. Sometimes the person will have only one or two attacks and won’t have any further attacks until adolescence or adulthood. Around age 4 is also when my chronic G.I. problems began, which continued and are still going on today. I read that chronic G.I. problems are also typical of Fabry. If I turn out not to have Fabry, it must be something that has very similar symptoms.

        Well, bye for now, and thanks again for all of your support! Donna

    1. I did see that, and it is very tempting, I am just not sure I am ready. I am getting close. I have just, as usual, been so busy. I will keep you posted. Thanks!

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