Does lack of copper trigger CJD?

For someone like me with a family full of dead fCJD victims, I wonder every day what the trigger is. Does something trigger CJD? Or does a lack of something trigger CJD? Here’s a great new study out of North Carolina State University that says a lack of copper can contribute to the misfolding of prions. This is just the kind of stuff that makes my day!

From the Science Blog link above:

“We believe that a prion protein’s normal function is to serve as a copper buffer in the human body, binding with copper ions and keeping those ions from damaging human tissue,” Hodak says. “We wanted to determine whether this was the normal function of the prion, and then look at how that binding affected the prion’s structure.”

To me, the prion’s normal function is to kill my family members. Brilliant scientific minds have the power to change this.

I so look forward to this being solved in my lifetime. To all the great researchers, please keep up the good work. You are ALL my rock stars.

Thank you.

My old blog has moved here (CJDTalk.blogspot.com)

I just received a comment today on a two-year-old post on my former CJD blog, CJDTalk.blogspot.com. I just want to put it out in cyberspace that I have moved from that Blogger blog to this Word Press one. It’s great to still have the blog up just for this reason. It’s always great to be in touch with other CJD families, no matter how and when they find me!

You can also follow me on Twitter, of course, at @curecjd.

Roundup of interesting CJD-related news

I find CJD families often like to cut beef out of their diet. I could write a book about the million different reasons why–but then again, many of these books have already been written. If you choose to take beef out of your diet, especially anything rendered, you’ll want to read this about KFC grilled “chicken.”

Congratulations to Dr. Valerie Sim and her colleagues at the University of Alberta for gaining $1.6 million in research money. Sim is trying to answer the age-old question of how prions change their shape. Follow Dr. Sim on twitter. She’s @PrionGirl. Trust me when I say the world cannot wait to hear her answers to this!

What I’m Looking For

While I really do (oddly enough) enjoy sharing with you my innermost feelings about accepting my mortality and analyzing Fox’s 24, I started my CJD blogs and website with actual goals in mind.

I want to educate the public and raise awareness.

I guess this is my way of fighting for the mother who never quite understood what was killing her. Believe me, if it had killed me instead, she’d be the one sitting here blogging about CJD. This is my way of fighting for the woman who could never fight for herself. This is how I fight for my own and all subsequent generations of my family.

Charity.

I’d love to create my own charitable foundation, but I don’t have time this year. (I am not kidding; I have to graduate BU). I’d like to find a way to see that money gets to this cause I believe in so deeply–finding the cure for CJD. I think the CJD Foundation is great for all they do. They work directly with families who are new to this disease. I’m not new to it. In fact, I’m stuck with it more than the iCJD & sCJD families are. There’s no escape when fCJD runs in your family. If there were a “CJD Research Foundation,” I’d be all over it. I have heard some CJD Families have sent money to a Dr. Bastian…I suppose there are several independent researchers I could send cash to. I just have to find out who they are.

Facts.

Short of finding the cure for CJD, I’d at least like to find what triggers the disease. My mother’s uncle died of it at age 69; she and her brother died of it at 56. My mother and uncle’s father (my paternal grandfather, the brother of that dead uncle of theirs) is still alive! He has watched 2 out of 3 of his children die of CJD, lost one brother to it, but he is still alive. So while CJD was triggered in two of his kids at the same age, he is still alive. He is the only one (that we know of) who hasn’t triggered it. Not through accidents, stress, anesthesia, surgeries, etc. I want to know WHY. And then I want to make sure we all do whatever he did to avoid the trigger. Or does this skip a generation? Because then my cousins and I would be home-free! But their kids… See, there’s no escape from this.

Finding Others.

Having a blog and website up has really helped me to find others in my same or similar situations. Add in over the years the social networking of MySpace, Facebook, and Twitter, and the possibilities of being in touch with like minds are endless. I’ve found other E200K families. I will never forget the man with GSS running in his family who helped me with great advice about how to plan the rest of my life, hopes, dreams, and more. Others have walked this past path before us; we are not alone. I left the “past” in that sentence I accidentally wrote because I very much want all the questions to be answered and for this to be in the past.

It’s kind of like this.

Here’s a guy who, in his 20s, was faced with mortality. He had a heart attack and this meant the immediate implanting of an ICD to shock him back to life if/when his heart stops again. He’s in a punk rock band; he’s been shocked back to life a few times. He seems to be using it like a get out of jail free card. Instead of following doctors’ advice and retiring from his existence as a high-energy punk singer, he pushes his heart to its limits and the ICD kicks in to bring him back to life. The New York Magazine article about him mentions him smoking, so he obviously hasn’t quit. The article also talks about him re-evaluating his life by breaking up with a girlfriend of ten years, which is credited to how the mind changes after one has a near-death experience.

I can relate. The article struck a chord. Do you live within safe, doctor-prescribed parameters or do you go all out and live like you’re dying? Maybe I am one of those people who have had their mind changed by a near-death experience, although not in the traditional way. I think watching relatives drop like flies from a genetic condition I have a 50/50 chance of getting is akin to having a near-death experience. I think it qualifies.

I showed my best friend my last blog entry. I didn’t read it to her, just said, “Look at this extremely long blog post I wrote about trying to come to terms with my mortality…” Her response at seeing the mass of text on her computer screen was that I need to stop obsessing over it. Maybe so. Or maybe not.

I can sort of understand how this guy in the article, Aaron Lazar of The Giraffes, feels and his views on life. But with an ICD in his chest, he’s pretty much guaranteed to survive. I don’t know if that’s true or not, but it’s the way the article made it sound.

After my mother died, instead of breaking up a ten-year romantic relationship, I actually began dating like I was house shopping or something. This ultimately resulted in two disastrous relationships. I charged up my credit cards. I quit a job by walking out and never coming back and was punished karmically by enduring a three-month stint at an even worse job. I signed up with Boston University to finish my BLS online from Phoenix.

After my uncle died, I pretty much stayed the course of plans I had set. But I did make an attempt to conquer my fear of singing in front of others. It doesn’t sound like much, but for me it was huge. If my cousins have made similar reevaluations of their lives since their father’s death, I am unaware. We are not close. I wasn’t even on speaking terms with my uncle when he died. CJD had already torn my family apart when my mom died.

The mind and heart definitely change after a near-death experience. One decides what is important. What that is depends on the individual.

What’s important to me?

How I treat people and for my time to not be wasted. How I am remembered. What I leave behind. It’s important to spend time and be giving of myself and my time to others. But it’s also important to find a balance and make sure I take care of myself first. I think this is a hard thing for women to learn. Sometimes (like this very moment) I need to stay home and process some of the difficult emotions I have about past, present, and future. I think in some ways I am lucky because I can’t afford the time it takes to procrastinate anymore. I am actually lucky to have had this scare in my life so that I prioritize my time and endeavors in a way I can be at peace with no matter how long I live. I have learned it’s important to do what you love and to share your gifts with the world. It’s important to see yourself in a positive way and that you are deserving of great things in your life. For me lately, life is also about discovering things about myself and the world that I didn’t know. Life is about tasting every flavor and experiencing as much as can be experienced.

Maybe it’s time for genetic counseling: What it is like to be 29 in an E200K genetic mutation family…

Just thinking that I may finally need genetic counseling makes me mad. It’s been nearly five years since my mom died. I did some pretty stupid stuff right after she died but I got over it. I’ve only had one major anxiety attack/PTSD-type moment since, brought on by watching a way-too-realistic seizure scene in the film “Hillary & Jackie.” That hasn’t happened since. I really don’t think I need an overpaid shrink to help me deal with my (alleged) mortality–or at least that’s how I’ve operated for nearly five years. Why get the testing when there is no cure? Why get the testing anyway? I already know my chance is 50/50. If I come out positive, you can just hand me the nails and hammer for the coffin, right? And what if my test results get out somehow and I’m discriminated against despite the anti-genetic discrimination law Bush signed while he was still president? (The only thing he ever did that I believed in).

But lately, my fuse is short as I ponder how to spend what could be my final decade or two. With a mother and uncle who each died at age 56, and me sitting here counting down to my 30th birthday in August…I’m feeling a little pressure. I will also admit I am a complete “Type A” overachiever. So when I ask friends what they’d do with their final decade of life, I didn’t expect to hear the cliches like “I’d live life to the fullest.” I expected people to give me answers like, “I’d get precisely five tattoos, skydive, do two years in the Peace Corps after donating all my possessions to charity, and then I’d climb Everest.”

I’ve been disappointed in my friends’ answers on Facebook and Twitter when I ask my “WWYD” questions. Today, I asked what people would cut out if they had only so many years left. This totally confused people. No one could answer that one. I look at it like this: if my life is to be shorter than even I expected, maybe I cut out waiting in line or sitting in traffic as much as possible. Maybe I pay extra to order stuff online so I don’t have to run errands. Or maybe I figure out how to get by sans car so I never have to drive again. If my life is to be shorter than expected, maybe I cut out wasting it on being a people pleaser or being around people I just can’t stand, even if it’s a neighbor or coworker I don’t want to offend.

These are the kinds of things I think about. I watched a mother die who planned to live forever (her exact quote was, “I’m gonna outlive ‘em all!”) After her death I was prepared that the same may happen to my other relatives. I just didn’t think it would be my uncle a mere four years later. I was prepared to walk the road alone but my cousins ended up walking it too. I didn’t think lightning could strike twice like that, but here I am just like that guy in Caddyshack… Which of us will be the next one? Will we even make it to 50? I have noticed younger people are dying of CJD here in the U.S. Look at Eric Bjorkund–he’s only 40! A 54-year-old man in Wisconsin just died of CJD too.

These are some of the reasons for my renewed sense of urgency in confronting any and all mortality-related issues I have. These are issues like how I spend my time, who I spend it with, and do I eat that donut? Do I even bother getting married? Should I even have kids? Who will take care of my cat if/when I die?

Oh, I know what you’re saying. You’re saying, “But Heather, you can get hit by a bus tomorrow. What are you freaking out about?”

To that I say, I’d rather go by getting hit by a bus than by suffering from CJD. You have no idea the things I have seen. But if you follow this blog long enough, I’ll tell you about them. CJD is a horrific way to die. If I have a 50/50 shot of going that way, I want to live the most amazing life possible. Ideally, I wake up tomorrow a rock star opening up a summer music festival arena show with U2, Kings of Leon, Eminem, and Lady Gaga. Then when I’m done with the rock star schtick, I polish my Oscar and pack quickly so I don’t miss my plane to France because it’s time to lay on the beach in Nice. Then when I get back to the U.S., President Obama and the First Lady are inviting me to dinner so we can discuss how to eliminate TSEs from the nation’s food supply. Then we talk about how he can disperse the millions in research money I’ve asked for. In this perfect existence in which I am “living life to the fullest” I am also a size 6 because I really like working out.

Now that you got a laugh, let’s move on…

Think of how the Make A Wish Foundation works. You’re some poor kid who knows she’s going to die, so you tell them you want to meet Steve Carrell so you can die happy. You also want an autograph and cameo role opposite Rainn Wilson on The Office. Poof! Your wish is granted. What would YOU ask the genie for? (Do share, I’ve shared my own pretty silly scenario with you).

Have you read The Last Lecture by Randy Pausch? It’s like that. What would my last lecture be? What would I leave behind to you, besides this blog you’re reading right now? I have the audio book version of this and think all the time about this one story he tells in it. Pausch talks about how the grocery store overcharged him $16 and how he’d rather have the 15 minutes of time in which to go about his day than waste that 15 minutes to get a mere $16 back.

THIS IS HOW I THINK NOW.

Everything matters that doesn’t matter to normal people my age. Does it matter if I eat the Krispy Kreme? Do I waste 15 minutes cleaning or do I let it go for today so I can call a friend and say hello?

TIME MATTERS.

Whether you are Randy Pausch with a year left or me, time matters. I am just like you, really. I haven’t been told I have a terminal illness. I do not know whether I will live to be 40 or 100. But since I have this genetic time bomb ticking in my family, I am constantly thinking about what matters most. What are the top priorities in my life? Do I take risks or get comfy? One friend told me a story about a woman who knew she was going to die, so she made her life as “normal” and routine as possible. These are things I have always shied away from, so I’m not going to start that now.

Like you and everyone else, I have a “bucket list” that is around 2 pages long. I am in a place right now where I cannot deny who I really am or what I really want. If I am unhappy with a person or situation, I walk away. Life is too short! My many “walks away” began shortly after my mom died. But in each decision I have made about how to live my life with fCJD hanging over my head, I have learned a lesson or two. I have found meaning. I have found a better way, happiness, laughter, and sometimes a huge credit card bill.

This is what it’s all about. No matter how long my life may be, I want it to be meaningful. It can’t be wasted or squandered. Do I really have to sleep? Or can I stay up and watch this movie? People who are going to live to be 80 or 90 can go to bed, but maybe I need to stay up. Maybe I do need to take a dance class. Or not. Do I forsake the bucket list in order to just spend time with family, or will that last a week until they start driving me nuts and I go out to buy a jet ski?

It’s like a constant mid-life crisis. If I had the money for it, I’d own a Porsche by now.

Can genetic counseling help me or am I better served by a life coach at this point? I wrote this really long blog post today in hopes it would help give you some insight into what it’s like to be me. My family carries the E200K mutation for familial CJD. Some of us will die of it. Some won’t. Maybe none will–maybe my uncle’s death was the last. Then there’s that river in Africa…

I also wrote this to show you the deep, profound, and lasting effect CJD has had on my life. At age 25 with a dying mother, I did not know this was in my family. I had lived my life in blissful ignorance to that point and I wish I still could. But at age 25, I was also a pompous and selfish ass. I’d so much rather be the person I am today. I earned it.

While sometimes thinking about how CJD affects my life drives me nuts, it is also a hidden blessing. Some of you need the thought of your mortality to put life into perspective for you. In fact, I think some people never get their lives in order until they have a good scare or someone they love dies. There were long periods between my mother’s death and my uncle’s death in which I didn’t think about CJD at all. But what gets me is that I’ve been thinking about my mortality since age 25 in very unique and mature ways. Most people in their 20s don’t have to think like I do. So when I ask you “WWYD” about your final years of life, keep in mind the unique perspective the question comes from. Try for a second to put yourself in my place. Then give me on hell of an interesting answer. Think about it.

What if you only had 10-20 years left?

Welcome to my world. Since both my mother and uncle died at age 56, I think about this often. What would I do if I only lived 10 or 20 more years? What if I don’t get to see my niece get married? She and her mom were dancing to their favorite song last night and as her mother promised they’d dance to it at her wedding, I thought to myself “what if I don’t live to see that?”

Then I thought today I should just get tested and find out if I carry the gene, then I at least have a 50/50 chance of finding out I will live to see her graduate high school, get married, have a child of her own… But then again, I work in a newsroom, which is a great place to be around death all the time. A crazy white supremacist went into the National Holocaust Museum in Washington, DC today. He shot a security guard, who later died. Was that security guard counting down to his death? No. He went suddenly. He was never warned.

But I have been warned.

I’ve never believed in getting tested since there is still no treatment or cure. I plan my life for “just in case.” As in “just in case” I don’t live past age 56 like my mother and uncle, I will leave something behind for my family. And I think daily about what that will be.

But then each day I wonder how best to spend my final years, whether they are 10, 20, 30, or more. Live it up and travel, right? Someone told me today to keep a normal life going because those every day normal moments are the ones we remember of our loved ones.

All I can come up with is to not waste my time or that of others.

Please Support Eric Bjorklund

Eric Bjorklund is a 40 year old man “likely to be suffering from a rare genetic disease called Creutzfeldt-Jakob Disease (CJD)” according to a website set up by mothers of autistic kids he’s worked with as an ABA therapist. There’s a fundraiser for Eric and his family this Sunday, June 14 in Hauppauge, NY. If you’re anywhere near there, please attend and help out.

I am floored to see someone at age 40 dying of (suspected) CJD. This is beyond wrong. And I thought age 56 was young for my mother and uncle to die of it…