SLE is an autoimmune disease capable of causing severe tissue damage in many organs. The cause of SLE is unknown, but recent research has identified infection-fighting proteins called interferons (or IFNs) which are made and released by host cells in response to the presence of pathogens such as viruses, bacteria, parasites or tumor cells. IFNs allow for communication between cells to trigger the protective defenses of the immune system that eradicate pathogens or tumors.

In this video, Dr. Erik Peterson from the University of Minnesota describes the basis for his new study which will look at how PTPN22 (one lupus risk gene) affects the interferon-producing capacity of lupus patients.

LFM will be speaking live with Dr. Peterson on Tuesday, April 30 at 12 p.m. Join us to learn more about this research opportunity and find out how you can get involved. Register today at: https://attendee.gotowebinar.com/register/1804589201556293632.

Figuring out how lupus runs in families has been complicated. Lupus is not like some genetic diseases carrying a high profile in the popular press. The phrase “genetic disease” might bring to mind hemophilia among the royal families of Europe, or the “boy in the bubble” with immune deficiency, or cystic fibrosis. In each of these cases, mutation of one or a few genes is the illness driver.

In contrast, for most cases in which lupus runs in families, alteration in more than one gene is likely behind the increased disease risk. Lupus is thus said to be “polygenic.” In fact, if risk of being diagnosed with lupus could be represented by a jigsaw puzzle, it’s likely that dozens of individual genes serve as pieces in that puzzle. As with a puzzle, each lupus gene plays a minor, but required role, in generating the final lupus disease picture.

Despite the subtlety and complexity of lupus genetics, progress has been tremendous in the past decade. Lupus “gene hunter” researchers (Tim Behrens, Patrick Gaffney, Kathy Moser) at the University of Minnesota helped to form an international consortium called “Genetics in Systemic Lupus Erythematosus” or SLEGEN in 2004. SLEGEN members searched for new genes using pooled samples from collections of lupus patient DNA samples from all over the globe. This effort brought into the light of day, for the first time, the identity of real live “lupus genes.” The scale of the research is truly amazing.

One of the key SLEGEN scientific papers in 2008 utilized samples from 720 women with lupus and 2,337 controls (women not suffering from lupus). These numbers are impressive, in part, because SLE is an uncommon condition (~ 1 in 1,000 women are affected), and it is therefore hard for any one center or researcher to collect enough samples to make real headway. To be absolutely certain about the genes they found with those huge sample collections, the SLEGEN investigators studied DNA from an additional 1,846 SLE patients and a similar number of controls. This research thus identified, beyond the shadow of a doubt, 13 genes that increase risk of lupus.

The bottom line after a decade of high-powered genetic research: the gene hunt has been a smashing success. Many more lupus genes (a total of 47 as of October 2012) have been reported since 2008.

The next great goal in lupus research must be to connect lupus genes to the causes of inflammatory tissue injury in the disease. Intriguingly, more than half of the lupus genes have been implicated in the controls of the powerful natural chemical type 1 Interferon. In the next post, I will describe the relationship between lupus genes and the lupus “interferon signature,” discussed in a previous blog post.

One hears statements of this kind while playing the popular board game “Clue.” Players of Clue must travel around an imaginary old mansion while collecting hints. Based on hints, players make educated guesses about the “where, who, and with what weapon” facts of a murder mystery.

Pursuing better treatments and cures for Systemic Lupus Erythematosus (SLE) is a little like playing an exceedingly complicated game of Clue. Villainous SLE has done dastardly deeds, reducing quality and quantity of life for many of its victims. Researchers who would bring SLE to justice confront a daunting array of “weapons” (infections, hormones, drugs, lifestyle choices, host immune cells run amok) that could inflict injury within the “mansion” of a patient’s immune system. Like Clue players, researchers must use logic. As in Clue, they must also test proposals (called hypotheses, frequently based on observations in patients) with experiments in the laboratory. They must spend long months and years testing these proposals to track causes of SLE to their sources.

Fortunately, investigators hunting the causes of SLE in the past decade have been equipped with more powerful tools than a few dice and Clue game cards. In particular, researchers at the University of Minnesota, including Drs. Timothy Behrens and Emily Gillespie, made use of a powerful technique called gene expression profiling. The technique allows simultaneous analysis of the behavior of thousands of white blood cell genes in SLE patients. Nearly 10 years ago, these investigators were among the first to report that the majority of SLE patients show a distinctive pattern of blood gene expression (Baechler et al, Proceedings of the National Academy of Sciences, 2003). They dubbed the pattern the Type 1 Interferon “signature” because numerous active genes in the SLE-associated blood profile are controlled by a powerful natural chemical called type 1 Interferon. After observing the signature, they proposed that uncontrolled type 1 Interferon might serve as a major instigator of tissue damage in SLE.

In the ensuing 10 years, Drs. Behrens and Gillespie and many other researchers have been working to establish a cause-and-effect relationship between type 1 Interferon and tissue injury in SLE. Their follow-up work has resulted in numerous insights about the cells that produce type 1 Interferon and how those cells are excited by stimuli such as infection.

We will discuss further clues about whether type 1 Interferon is indeed a “weapon of interest” in the SLE “murder mystery” in the next post.

I sometimes use this cliché’ phrase as I counsel patients suffering with Systemic Lupus Erythematosus (SLE). Clinical research shows that diligence and persistence in use of immune system-modulating drugs is important for optimal disease control for many people with SLE. Some drugs need to be taken day in and day out, for months or years, to be most effective. Repeated clinic visits, blood monitoring requirements, pharmacy charges, and side effects all represent “hell and high water” barriers that threaten SLE patients’ good intentions. Months or years get to be a long time during the battle to maintain treatments. As a prescriber who has been around the block a few times, I know that it takes dedication and diligence to adhere to regimens involving multiple medications. Until we have cures, I consider it part of my job to be a cheerleader for long-term use of proven treatments.

This week, I was reminded that persistence is also a necessary trait for those who labor in SLE research. Workers in our research groups at the U of MN had to combat “high water”, literally, to keep doing the job of working for cures. On Sunday morning, February 17, a sprinkler system pipe ruptured in the Wallin Medical Biosciences (WMBB) Building on campus. 7000 gallons of water rushed out in about five minutes. Suddenly, the floors of 10 immunology laboratories, including several that conduct lupus-related research, were submerged to a depth of two inches.

The moisture and the sub-freezing temps did not deter Yaya Wang, Ph.D., Research Associate in the Division of Rheumatic and Autoimmune Diseases. Upon hearing of the flood, she threw on some rubber boots, hopped in her car, and drove straight to WMBB.

Yaya Wang, Ph.D.

After helping other researchers to ascertain that key lab equipment and supplies were shifted above the water line, Dr. Wang got down to scientific work. She had been laser-focused on the question of whether PTPn22, a SLE “risk” gene, is important for controlling joint inflammation, for many months. Indeed, a critical and complex, two-week-long experiment to address this question was in progress when the pipe burst.

Dr. Wang determined that “hell or high water” would not prevent her from finishing the study. She calmly sloshed to her workbench and made the necessary measurements amidst the waves and the clean-up chaos. I learned yesterday that the overall experiment has been a success. The data obtained will support a soon-to-be published paper about PTPn22 and inflammation, written by Dr. Wang and other waterlogged researchers at the U of MN.

Providers and patients are fortunate to have coworkers like Dr. Wang with us on the long “Road to a Cure” for SLE. We should not be surprised, however, if future grant proposals coming from U of MN SLE researchers contain budget requests for life preservers and rowboats.

However, because I have had so many years of medical testing, hospitalizations, surgeries, placental abruptions/miscarriages, bleeding disorders, neurological issues and other crazy symptoms that have systemically affected me, and because my only child, a young daughter, was having similar problems and was being watched for lupus, I felt it was important to say yes.

People with autoimmune diseases need better care, testing and treatments. Period. This is especially true when diagnosed with multiple conditions. In the past 10 years, I have been told I have Hashimoto’s, ITP, Raynaud’s, fibromyalgia, autoimmune autonomic neuropathy, unexplained pancreatitis, inflammatory arthritis, degenerative arthritis, mixed-connective tissue disease, immune deficiency, and now lupus. Whew! In the years prior to this, I had a over a decade of anemia that didn’t respond to medications, low platelets, bleeding and migraines. Yet through it all, no answers with minimal treatment.

The medical community, itself, needs to have a better understanding of lupus and other similar autoimmune diseases. Perhaps there should be more clinics, like the one my daughter and I now visit, that strictly specialize in immune/autoimmune conditions. (We should brainstorm on that, and other helpful changes we’d like to see in 2013!) Regardless, the lupus community needs assistance, our medical community, families and friends need more awareness of this disease and the research community needs funding to pull it all together.

As I began to volunteer and speak at a few gatherings, I found out how much this all bothered me. When faced with discussing my medical condition, as well as my daughter’s, I found I had to speak broadly or I’d be overcome with emotion. Every day we face choices, pain and fatigue. Some days we face a new symptom or crisis. Other days we feel strong enough to push through, perhaps then “overdoing” it. Added stress causes flares, having fun outdoors causes flares from the UV, viruses linger on and create more fatigue, pregnancies can be dangerous, social gatherings are tricky and dare we plan a vacation? It seems no matter what we do, lupus creates a challenging situation. But the most frustrating part comes from the lack of understanding and treatments for it. It feels like you’re going for ride, not knowing where, how or when you’ll get there – and having to accept it whether you like it or not.

I decided I wanted to do more than just speak and be a face at the Walks, I was going to attempt to make a difference, even if it was just towards a few individuals. Through the help of Gwen, I created a “lupus ambassador” facebook page that I would share current research findings, inspirational stories and lupus facts.

After that, I decided to host a fundraiser the evening before the Lupus Walk for Hope and 5K Run-Duluth. I made a handful of calls and in less than an hour had raised funds, sponsors, food and beverages to hold the first “This Train is Bound for Glory” event. I was deeply touched by the overwhelming response by everyone I called. My bank donated money, Green Mill donated all the food, Bernick’s Pepsi the beverages, my daughter’s orthodontist donated funds, as well as a friend from church to sponsor the band’s equipment rental -the band, MYNX, donated their time and talent, and my employer, the Lake Superior Railroad Museum & North Shore Scenic Railroad, donated the use of a multi-car train on a two and a half hour trip along the North Shore. KOOL 101.7 donated numerous radio spots and an interview. Volunteers were numerous, including the engineer, fireman, conductor, bartender, car host and the crews who put the train together and gave us heat on a cool October evening. Members of the local lupus support group jumped in and assisted with raffle prize tickets that evening too, and brought their families along for the ride. At the end of the night, we raised $3,000, had a wonderful time, gained television coverage and created relationships with sponsors who would like to participate next year if we do it again. Incredible support from all directions flowed in to benefit both myself, and the LFM event I was creating.

Reflecting on the year, I feel like I was the one who benefited the most, because I reconnected with some great friends from high school. Not only did one friend drive up here and support the walk, she brought a friend, her sister and brother in-law and has since asked me when next year’s walk will be, so she can recruit more people to make the four hour drive to Duluth from our hometown. Wow! Then on Christmas morning, my grade school/middle school best friend from many, many years ago wrote on my Facebook page that she gave me a Christmas present this year – a donation to the Lupus Foundation of Minnesota! Between research advancements, awareness efforts, and the love and support I felt from new and old friends and family – 2012, with LFM, was a commitment I’m glad I accepted.

Peace and blessings to you. Happy New Year!

Straight-up, lupus is cruel. It doesn’t distinguish between someone who has lived a full life to that of someone who is just beginning theirs. One day you can be moderately fine, the next you’re battling a flare that is raging out of control … and why? Why is there such discrepancy between individuals with this autoimmune disease and within their personal course of flare management? Why are we able to pull ourselves out of an attack on our bodies, only to go through it all over again?

In lupus, the immune system has several dysfunctional tendencies – one which is primarily related to the inflammatory response. The medical definition for this reads: “Inflammation: a protective tissue response to injury or destruction of tissues, which serves to destroy, dilute, or wall off both the injurious agent and the injured tissues. The classical signs of acute inflammation are pain, heat, redness, swelling, and loss of function.” With lupus being an autoimmune disease, our own bodies mistakenly create the attack response on both infected and healthy tissue. Depending upon which bodily system and organ involved, and to what degree, the disease can become life-threatening, rather quickly.

We leave the scientific theories and research to the doctors who are currently working steadfast at finding the exact cause and cure of lupus and its inflammatory response. Within our own reach, we need to look at things that contribute to inflammation and see if we can make some improvements to our health. It is thought that underlying food sensitivities create an allergic reaction, which in turn leads to chronic inflammation in the body. It is even believed that this process may directly lead to rheumatoid arthritis, an inflammatory disease, which sometimes overlaps in lupus patients. For me and my daughter, we can not eat gluten. There have also been times when dairy and red meat have caused GI issues for us. After doing a little research on this, I found that those three are among the top food allergen culprits – and most people aren’t aware of this food/allergy-autoimmune connection.

Dairy, red meat, nightshade plants, like tomatoes, white potatoes, and peppers, wheat, corn, sugar, eggs, nuts and coffee lead the list of inflammatory foods. Interestingly enough, pizza contains many of these ingredients and is listed as America’s favorite food, with 94 percent of the world having a piece of that pie. Cheeseburgers with ketchup, french fries and a shake contain several, also.

Whether you find that you are sensitive to one or more of these foods and attempt an elimination diet, or not, it certainly doesn’t hurt to cut back on them and incorporate more foods from the “good” list. Foods that make a difference and fight inflammation are: steamed broccoli, wild-caught salmon and tuna, walnuts, tart cherries, onions and garlic, pineapple, spinach, ginger and turmeric. The benefit to eating these foods, too, is in their high levels of vitamin content, especially vitamins D and C, which are extremely important in both lupus and connective tissue diseases.

Bromelain is an enzyme found in pineapple juice and in the pineapple stem. Although eating pineapple is a delicious way to receive this source, enzyme supplements can be purchased and taken to reduce arthritic pain and inflammation. It is even touted to reduce fluid buildup in the lungs and repairing of tissue after surgery. Please check with your doctor before taking this supplement, it may interact with your medications and can affect the way your blood clots. In fact, check with your doctor before making any major changes to your diet.

Okay, so now you know a little bit about inflammation and food connections … December is NOT the time to try eliminating a bunch of food from your diet! You will be miserable, resent the thought and feel deprived of all the goodness of traditional treats you would normally nibble on. Meanwhile, use these few weeks to prepare for a go at it. Read about elimination diets, start looking carefully at labels, create a game plan and give it a shot for the New Year. If there is a food item or two that is bothering you, within two to three weeks you will feel the difference in pain and energy. What a great way to start 2013, by eliminating sources of inflammation and increasing foods and spices that continue to decrease it.

Good luck and take care of your precious selves.

Hugs to the lupus community and warm, loving thoughts to the McHales.

For me, having lupus is an everyday adventure. It’s very hard to plan to do things because I don’t know how I’m going to feel on a daily basis. The consistent thing about my lupus is that I can count on being extremely fatigued most of the time. I’ve decided that if I’m going to be tired, I’m going to be doing things that I want to do.

I’ve also had to learn that I need to listen to my body. When I don’t, I can look forward to a week’s worth of struggle to get back to “my normal”. What’s also challenging about the chronic fatigue is that sometimes friends and family just don’t understand it. I have to explain it over and over to the people who mean the most to me. They don’t understand that enduring an entire work day sometimes feels like I’ve manual labored for three days straight. They don’t understand why I’d skip dinner and just go right to bed. It’s because I’m that tired. Sometimes I’m so tired after a shower I just have to lie down and rest for a bit. But then there are other instances when I’m able to do a full day on the job, clean the house, run my daughter where she needs to go and visit with friends and be just fine.

So I appreciate the confusion that some can have about how I’m living my life, but the difference is I’m refusing to do things that, in my opinion, waste my time and energy. I don’t want to be around people that don’t make me happy if I don’t have to; I don’t want to spend time in places that I don’t want to be.

Lupus has shown me that life is really precious and you have to make your own good times since they just don’t happen. By choosing how I want to use my energy for the day it makes it easier on the days when I do little or nothing but rest and recover. It makes me feel less upset about not being able to follow through the plans I had with friends because when I’m with them they know it’s truly a blessing.

When living with a life-threatening, chronic illness it is very (repeat VERY) easy to get ahead of yourself, to worry about the unknowns and to fear the future. Perhaps mingling in the knowledge of what lupus can do and has already done in your life, may have accelerated those thoughts for you. For me it has. I feel like the past ten years have been spent wondering how long it will be before something terrible happens again, which irregular heart rhythm should I take seriously, and are they damaging my heart?
How long will I have before my lungs require oxygen?

Will the continued muscle weakness and joint inflammation completely debilitate me?
Will the immunosuppressants lead to a life-threatening infection or cancer?
When and where is the next big hurdle … ?

On the other hand, I often wonder can this be turned around? Could I start having more good days than bad? What can I control in a disease that is so unpredictable? The answer is simple: my thoughts, reactions and attitude can be controlled and have completely shaped the way I feel each day.

This summer, after struggling with heart and lung inflammation and GI issues, I became aware of my destructive thoughts. Even though I thought I had my stress under control and was living in a neutral frame of mind, I realized that I wasn’t really “living”. My mind had trapped me into the belief that my lupus stood between me and the “go-getter” I used to be, and because I was caught in this riptide of “where is this all going?”, I couldn’t free myself of its hold. When I discovered how this internal dialogue was impacting my well-being, I stopped and acknowledged it. Okay, yes I know I am gradually getting weaker, and many days are very difficult and no, I can’t predict the future, but knowing that too allowed me the opportunity to take advantage of and appreciate today. That is the gift of which I speak.

I started this change by writing myself a message across our bedroom mirror, “RULE #1: Don’t get discouraged.” Flares and new health issues are frustrating, but strip the emotion out of the picture, control your reactions as best you can and accept that it is part of living with lupus. By its very nature, the disease can be scary, but dwelling on it doesn’t make it less so.

Staying right here, right now, is a gift that you are not only giving to yourself, but everyone around you. I now try to make the most of my days, accept the need for a nap instead of fighting it and embrace new possibilities – I’m actually seeking them out! Since this new awareness, I have been pursuing life-long dreams and taking control of what I can in life, while I can.

Shortly after this enlightenment, I wrote for and received a Legacy Grant from the State of Minnesota to research and create a room-size exhibit inside the original Immigrant Waiting Room of 1892, in Duluth’s Historic Union Depot. Tapping into my educational background, with double degrees in studio art and education and a minor in art history, along with the years I worked in galleries and museums, I was able to stumble upon the perfect fit – so perfect that I can work from home in my pajamas most days! Within a couple weeks, more opportunities were knocking on my door and I had to pick and choose which ones to tackle. Life is funny; when you open yourself up to its possibilities and trust in yourself, new doors simply open.

This holiday season, when looking for gifts for those you love, think about today – the present, how you use your time and talents and how your thoughts shape your beliefs. Perhaps the gift you are looking for is right in front of you.

Dr. Emily Gillespie, University of Minnesota researcher who will present at the Lupus Foundation of Minnesota’s Lupus Conference on December 15, recently sat down with MinnPost contributor Susan Perry to discuss lupus and its complications, current research and even mortality.  The Q & A-formatted interview can be viewed on the MinnPost website: http://www.minnpost.com/second-opinion/2012/11/sasha-mchales-death-brings-attention-little-understood-autoimmune-disease