I have spent hours going over my genes. Some people I have talked to or shared my reports with have asked me, “weren’t you afraid to know?” The answer is no, not really. I already know my family medical history. I know that my paternal grandmother died of Cordoma (cancer of the spine). I know my maternal grandmother had a stroke. I know my paternal grandfather had his first of five heart attacks at age 48 and my sister passed from hers at 43. I know my uncle died of cirrhosis and my other uncle brain cancer. I know my paternal grandfather also had osteoporosis and Alzheimer’s, which is what finally took him. My mother and daughter have peanut allergies and asthma. I even have an uncle with adult onset ADHD. Alcoholism is rampant in my family. None of those genes surprised me in the least. Based on what I have been through these last two years and meeting new distant relatives found in my family tree, I wasn’t even surprised I have many genes related to Crohn’s. The part that surprised me was all of the genes related to MS. No one in my family has ever had that, as far as I know.
Because I have an insatiable appetite for knowledge, I extensively researched that disease. It is often misdiagnosed as Lupus (which is what my doctor thought I had) and Fibromyalgia, which is what my rheumatologist diagnosed me with. Besides genetic risk factors, other risks are smoking and living in the northern hemisphere – due to vitamin D deficiency – which I also have. It not only causes chronic pain, but also stomach problems, brain fog, eye problems, headaches, sleep disturbances and menstrual problems – all of which I have. I couldn’t believe that I never looked at that disease before.
Before my last rheumatology appointment, I contacted the office and told them that I had had my DNA done and asked if my doctor would like my results. They said yes, bring them to your appointment. I have never been impressed with this clinic before and the doctor is underwhelming at best. He had a new nurse this visit. She was young. She comes in and tells me that the doctor has an intern. Then she tells me the guy is creepy and like 70, but good for him for going back to school. She told me not to worry, he was just following the doctor around and not meeting alone with patients. I thought that was a bit unprofessional for her to say, but whatever.
People talk to me differently than they would talk to most people. I remember one time when I was working at my father’s gas station a woman came in to pay and told me she had just been diagnosed with cancer and that her daughter, who was outside washing the car windows, didn’t know yet. Sometimes I wonder, what in the world am I supposed to do with that information?! But I guess my young, cherub face must bring out some kind of confessional in people. At 42, nothing people say to me surprises me anymore. At 20, that news was tough on me – and I didn’t even know the woman!
The nurse was completely fascinated with my genetic report and told me she and her husband were considering having it done. She asked where I got it and how much it costs and asked if she could look at it. I told her, “of course.” She flipped through the 16 pages of bad genes that had a magnitude of 1.5 or greater – that was the report I printed. Every once in a while she would read one out loud in surprise, “You have a gene for a peanut allergy!?!” I shared my mother and daughter are both allergic. There are actually two of those genes in there.
When she left, the door opened and it was the intern – alone. I chuckled because he was clearly in his late 40’s or early 50’s. When you are young, everyone older than you looks old. He asked how I was doing and I told him, great! I haven’t had a flare since March. This is the longest I have gone in 2 years. I have even been able to begin walking 5 miles a day and even took a belly dance class with my mother and daughter. I wouldn’t have been able to do that a year ago. No stomach problems, no pain. I feel like my old self! I am even socializing again.
He left and the doctor came in. He said, “my intern tells me you feel better?” I told him the same thing I told the other guy. He leans in and says, “That is great that you are walking now, but we need a plan in place for what you will do in the winter.” I told him we have a gym at work. He follows up with, “Now that we have you exercising again, we need to work on the weight.” He makes a circling motion in the air with his hand towards my stomach area. This guy irritates me to no end!! He basically listed a bunch of fad diets I could try. He goes on to pretty much say that my “Fibromyalgia” is doing better, not because of the handful of pills he has me taking everyday, but solely due to the exercise. What a creep! He didn’t even mention the Vitamin D – which was clearly the key to it all! I had my blood drawn before the appointment and he went over the results. My GFR (kidney function test) has now fallen to 58. Chronic kidney disease – which my aunt now has – begins at less than 60. I have now dropped 40 points since all this began two years ago. He told me he isn’t concerned at this point because the Meloxicam that I am taking is hard on the kidneys and liver. He said to make sure I drink plenty of water – dude, I am waterlogged daily, that is not an issue! How many times in a day can you pee? Obviously a lot!
When he came in, he had laid my genetic report back on the desk. He turns to it and condescendingly patted it. He said, “this is all Greek to me. We didn’t study this in school.” Um, even my chiropractor had to take a class in genetics! He said, “I’m not going to put this in your medical file. I think the best place for this report is in your file at home.” OH MY GOD! THIS GUY IS SUCH A DICK!! He went on to explain, like I am some kind of idiot, that genetics is just one piece of the puzzle. Environmental and other risk factors are needed to set them off. Sometimes I seriously think I must be smarter than the doctors. I don’t know what kind of Cracker Jack Box this guy got his degree in, but I am so done with him!
Worse, as he was saying all of this, a nurse burst into the room. “I’m sorry doctor but that patient who broke out in hives over the Remicade is now coding.” He says, “let’s take this out in the hall.” WHAT?!? He comes back in the room as if that didn’t just happen. He continues talking to me, refilling my prescriptions. At that point I wasn’t even paying attention to him. There is a woman down the hall CODING from the medication HE gave her and he is in here with me??? If I were coding I would want that damn doctor at my side, holding my hand, resuscitating me or whatever! Then as an after thought he said, “I guess I better give you an exam.”
He had me get on the table. He looked in my mouth. Then he ran his finger down my spine and finally he bent down and squeezed my ankles. He said, “ok, see you in January.” That was your exam? I am so done with this guy!!! I left the clinic walking past the ambulance and fire trucks that were obviously there for his poor victim. I wondered if it were any of the sweet little old ladies I had chatted with in the waiting area of the blood center. I left my original clinic because I thought the doctors were incompetent. They cannot be worse than this guy. At least they wouldn’t be an hour drive each way and a half day off work. I may switch back to them after this. Just give me my Meloxicam and Gabapentin and I will be on my way!! Last time I had begged my primary doctor not to make me go back there. She can prescribe those things! She can monitor my blood work. But she said no, I have to keep going.
I drove back to work, completely IRATE after this visit. I decided I needed to contact my primary doctor. Maybe she will take a look at my genes! My primary doctor is in a small clinic in a neighboring town. They have a patient portal, but I have never registered for it. I called the clinic and the only way you can register is if you come in. I decided if I have to go there anyway, I would just write my doctor a letter and hand deliver it – the US Postal Service has gone so far downhill that I wouldn’t trust them to deliver something so important.
The letter began with giving her an update on how I am feeling and the things I have now been able to do without the pain or stomach problems. I explained the medications I am now on. I rehashed a little of the visit with my rheumatologist. I told her my GFR score, which he wasn’t concerned with and how the doctor said I have improved my “Fibromyalgia” solely based on the exercise with no mention of the Vitamin D. I don’t even know if he retested it! Then I told her of my genetic report and that I have 115 out of 129 known genes linked to MS. I explained that it is often misdiagnosed as Lupus or Fibromyalgia based on the symptoms and that I have all the environmental and lifestyle risk factors. I told her at this point the medications are working, but we are treating the symptoms, not any specific disease and that my good health is solely based on taking those medications. I told her that I am uncomfortable with that situation, even though I feel better. I told her that I have been to the eye doctor 4 times in 2 years and they keep coming up with nothing. “Oh, you have ocular migraines. Oh, I wouldn’t worry about that giant vein that popped out in your eye. It may go away, it may not. Oh, you can’t see anything because you have eye strain from needing bifocals…” In the last several months, whether it is because of my new medications or the disease, I now get nystagmus when I am tired – scary when you are fighting to stay awake and driving! I ended my letter with, “We have ruled everything else out, at this point I would feel better if we could rule this out as well.”
I hand delivered the letter and signed up for the patient portal while I was there. Then I waited. When I hadn’t heard anything in almost a week, I initiated contact again. I decided not to let her decipher all 16 pages of my bad genes. Obviously it was too confusing for the rheumatologist. So I made a report of just the MS related genes. I sent an email on the patient portal and luckily this one allows attachments. Most do not. By lunch I already had a message to call her. We are swamped at work and working overtime so it took me a couple days to get back to her. We usually play phone tag, as I think most offices do. It almost feels like the doctors want to be the ones to initiate the call (control freaks, or maybe egotistic), but shockingly she got right on the phone.
She asked me a whole bunch of questions about my symptoms. She asked if I ever have tingling in my limbs. I asked, you mean like falling asleep? Yeah, my feet fall asleep all the time when I am sitting weird. She asked what about when you sit normal? I said I don’t sit normal. I have short legs, furniture doesn’t fit me. She laughed. She asked if I would rather have an MRI or be referred to a neurologist? I said I would rather do an MRI. If I don’t have any spots on my brain or spinal cord, we will just stick with Fibromyalgia. Just the idea of having spots on your brain is scary, but on the other hand, it sure would explain a lot! She had me make an appointment. I told her it will be a couple of weeks because we are working overtime right now and can’t take time off. Really, it’s been two years so I don’t feel super rushed at this point, plus I do feel better. I guess we will see.