nuclear results and false negatives

In ALL, FAMILY MATTERS, ILLNESS by Stephanie Klein30 Comments

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I’m picking Phil’s parents up at the airport today. I’m really excited to have them here, and I’m looking forward to taking more photos of the tater tots with their grandparents. I hope to explore a bit more of Austin with them, get the kids to some gym where they can bounce off the walls. Mostly, I’m looking forward to some family moments, the ones you cannot come by through planning.

We’re still waiting on Phil’s "nuclear results." Regardless of whether they indicate anything, it doesn’t end here. There will be regular monitoring, not just from the cardiac electrophysiologist but from a cardiomyopathy specialist, someone who can detect the subtleties I suppose. It’s alarming to me that with all the doctors with whom Phil met before he was cardioverted, not one of them (Natale, Horton, Whitehill, Blois) realized he was in complete heart block. Maybe he wasn’t? Maybe once Phil was shocked out of atrial fibrillation he went into complete heart block? I don’t really know, and no one has really said. Normally I’d argue that it doesn’t really matter, what’s done is done. But with medicine and medical care, it actually does. I’m also aware that medicine isn’t exacting, and neither are lab results:

Phil needs genetic testing and a CPK blood test. It is not, I assure you, to see how much California Pizza Kitchen he’s been eating. It’s a simple blood test where they check his total CPK for elevated levels, which might indicate LAMIN A/C Disease, but if they’re not elevated it doesn’t rule LAMIN A/C Disease out. The catch is that HALF of patients with this condition do NOT have positive genetic testing.

According to one extraordinarily helpful doctor, "the chance of finding a lamin a/c mutation in an individual with this range of cardiac problems/family history is decent–over 50% but definitely not nearing 100%. That, of course, means that a negative test will not prove that you don’t have this type of heart problem."

Oooh, so it’s like when I was pregnant with twins and all the pregnancy pee sticks refused to acknowledge it–total bitches that they are. I showed them. And I must say that Lamin A/C disease sounds like a foot fungal problem that’s rectified with extreme doses of air conditioning. In the meantime, I’m making "dessert caviar" with passion fruit sorbet and cilantro syrup so I think about anything but this.

*** As an aside, for those wondering, Lamin A/C Disease is damn hard to learn about via google. Here’s what I know, thanks to a friend of mine: This condition is associated highly with sinus node problems (check), AV node and atrial fibrillation (check), and cardiomyopathy (which is probably what Phil’s dad had, considering that it’s EXTREMELY unusual for a patient to die in his thirties from a weak heart unless there’s a cardiomyopathy at play). Lamin A/C Disease is also theoretically associated with sudden death. Given all that, I kinda want to know what we’re dealing with here, sooner rather than later.

Comments

  1. SO GLAD to hear Phil's parents are coming. So glad.

    But sheesh. What's with all these tests that don't tell you anything definitive? Dessert caviar sounds like the best answer given the circumstances.

  2. That all sounds like heaviness on your shoulders and I too am SO happy Phil's parents are coming in. You need someone there that loves Phil just as much as you so you can fully share the weight of all you've been burdend (hate that word) with lately. I've only met Phil a few time but that man has fight and decades of life in him.
    XXX

  3. I'm so glad that Phil's parents will be here to help you and comfort you during this stressful time.

    Hugs and prayers to all of you!!!!

  4. I'm sure it will be great to have the parents coming in. It's always nice to have some outside distraction during times like this. Plus I think that taking care of other people often helps us figure out how to take care of ourselves.

  5. Can I just, that as a foodie, I am impressed that you are able to make sorbet and dessert caviar when you have so much on your mind? I get that it serves as a distraction, but I am still impressed. Now suddenly I am reminded of the movie "Like Water for Chocolate"…

    Through reading this blog, I am learning more than I ever hope to know about cardiac problems. Thanks again for sharing.

    So glad to hear that Phil's parents are arriving.

    Lastly, what kind of ice cream maker do you have?

    FROM STEPHANIE: I have an ice cream attachment for my KitchenAid Mixer. It does the job fine, and doesn't take up extra counter space. Bought stainless storage with lids (restaurant supply store), the way you see them do with gelato, so it gets nice and hard once it's in the freezer.

  6. Those sort of conditions and tests suck the biggest donkey balls of all. My daughter is being watched for Neurofibromotosis. That's something you don't want to have, by the way. The genetic testing has a slew of false positives and is very expensive. "So what do we do?," I asked the geneticist. "Just wait." "How long?" "For the rest of her life. One patient didn't know she had it until her late 30s." *slaps head* Daughter is currently 3 years old and holding steady with 3 cafe au lait spots. You don't want to get to 5 or more.

  7. want something to take your mind off this….i think you would look FABULOUS with bangs…while his parents are here go pamper yourself and go for bangs!

    FROM STEPHANIE: I might have a forehead so wide it's a fivehead, but I promise you curly bangs is not a good look. I'll prove it. Scans will be posted soon.

  8. That's on ething I hate about the medical establishment- tests always seem to beget more tests. I'm glad you and Phil will have family around to distract from all the hospital worries and give the beans some extra lovin'. I hope you're giving yourself some extra lovin' too- you've earned it caring for everyone else.

  9. Stephanie,
    As always thanks for sharing. I have to tell you that I am teary after reading your latest entry. You have written what is happening so beautifully. You are handling Phil's health problems with such grace and are being so incredibly brave. I really, really admire you. I am so glad that Phil's parents will be there for a visit. I hope that you will be able to take a little bit of a break. I second the pampering. What ever pampering you need…a 90 minute massage? Thinking about you and your family and sending positive thoughts your way.

  10. Not that it is any of my business, but who watches your children while you're at the hospital?

    After having had some recent blood work done, I was advised that "even if some negative results come back, that doesn't mean anything is going to go wrong." I was like "Uh, WTF?! does it mean then?"

    I hope you get some kinda answers that bring you a bit of peace. Prayers & good vibes.

    FROM SK: When I stayed over in the hospital with Phil, Norma (greatest caregiver on earth) who normally watches the taters from 7am-3pm while we work, stayed over. And I hope everything turns out well for you.

  11. Totally off the subject, or at least I feel like it is, but depending on where you are in town the Little Gym, is fantastic and SUPER fun for tots! I was a nanny just out of college and it was the best place for loveable giggles and silly bouncing. More importantly, I loved that as an adult I was able to have just as much fun with my munchkins as they did…it's not just made for totters.

    *Prayers & Giggles for the Klein Kiddos*

  12. That's why it's called a medical "practice." Gives them a lot of leeway when it comes to not knowing what the hell is going on. Sometimes, though, there's just no way to know things. Talk about scary.

    Glad to see that everything is going well so far!

  13. Stephanie,

    You are in an Oreo commercial! …just kidding. It's actually a very cute 7-8 year old girl who looks JUST LIKE YOU!!

    Watch it and tell me that doesn't look like you!

    xoxo
    jocelyn

  14. Hey Stephanie – if you don't mind, and it isn't too personal or taxing, could you post how you all found out about Phil's issues and how all this came about? Or can you direct me to a post if I missed it? I only ask because my great grandfather died very suddenly in his 30's. They didn't do autopsies back then, but they think it was a heart attack. Although my father has passed his 30's, I still worry about him. I was just wondering what made you guys want to check it out? Where there symptoms? Did a Doctor tell him he should? But if you can't/don't explain for whatever reason, I understand.

    FROM SK: He had no symptoms at all. He did know that he had a slow heart rate. Lance Armstrong slow. Back in 2002, they did a bunch of tests on him, and just said to keep an eye on it if he felt dizzy or anything. Point is, this time, no, there were no symptoms. He went in for a standard physical, and the doc said, "In all my years as a doctor, I've never seen a heart this slow, where the person wasn't dying." She sent him to a specialist. And the rest is history. Still no damn results in!!!

  15. One of my 3 cardiologists is one of the top cardiomyopathy geneticists in the world. She's absolutely wonderful and she's on the forefront of genetic testing for every known mutation that causes cardiomyopathy. If you would like to get in touch with her, just let me know and I'll pass on her contact info. I'm seeing her next week and I'm happy to ask her any questions you guys might have.

    I'm glad that Phil is feeling better, but do make sure he's following doctor's orders. I didn't when I first was diagnosed and it caused a whole lot of hell later on.

  16. bangs can look great on someone with a huge forehead, and not as tight a curl as others' curly hair. Stephanie you really ought to try it. Just get yourself one of the mini tourmaline chi/ or whomever's mini irons to just do your bangs every morning. it would be fabulous on you. you have the perfect curl consistency, trust me.

  17. Normally I come here for far simpler relationship woes but I just read everything about Phil. I'm so sorry, Stephanie. My thoughts and prayers go out to you both. You really have a wonderful husband there. Phil wearing a rubber band as a makeshift wedding band was so touching it made me cry. May you find all your answers soon and this be a short chapter in a long, healthy life together.

  18. It's amazing how soothing the act of cooking can be. Unfortunately I find the act of shopping for ingredients less soothing, so I often don't make it to the cooking part.

  19. Good to hear you have family coming over. Your explanation on the tests remind me of an exercise we had to make in my math statistics class in college: "if an aids test is only x percent accurate, how many people who tested negative walk around being actually positive?" it was pretty discouraging, and very "what's the f*ing point of these tests". Hang in there.

    Also, I hear you on the bangs. I'd love some myself, but curly/frizzy bangs are awful.

  20. Thanks for the response, Stephanie. My fingers are crossed for you guys – that you get good news soon that's actually good news and not a false negative!

  21. Re: the Oreo commercial comments…
    Stephanie, that is you!! You should save that for when the beans are older-I'll bet they'd say
    the same thing.

  22. Glad to hear that you're having help coming soon! I'm sure that will be fun for the kids and a great relief for you!

    God Bless.

  23. I read your blog often, but don't take the time to comment because I a suppose to be working!!! All you have gone through seems so overwhelming, but you still have the ability to see the humor. When you said it sounded like a foot disease etc. it reminded me of a similiar funny story. Years ago my husband was having trouble with his eye (redness, irritation, sensitivity to light), he went to the eye doctor and was diagnosed with iritis (which also required some gene typing). When he came home and told me of the diagnosis, all I could do was laugh … it sounded so "made up" then he started laughing & life went on. I guess that is the lesson I learned from it all. Do what you can do, but don't forget how to laugh. Good luck!!!!!

  24. oh the mysteries and what ifs and "does he or doesn't he" and doctors not saying either way…oh the agony of it all. I feel for you in the most real and empathetic way; I feel like we were just there this morning in our most recent doc visit. It's like – doesn't ANYONE have an answer? We'd just like to know. either way. I hear you, loud and clear. Here's hoping we both get some answers.

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