The identification of a variant of the TLR7 gene as a cause of lupus erythematosus opens the door to the search for more effective treatments for the disease.

Lupus is an autoimmune disease caused by the activation of the immune system against the body's own tissues, leading to inflammation and damage to joints and certain organs. Its causes include both environmental and genetic factors, which have not yet been characterized in detail.

Currently, lupus is an incurable disease. Although there are treatments aimed at alleviating its symptoms, some of them, which focus on reducing the action of the immune system, have the side effect of increasing patients' susceptibility to infections.

This is one of the main reasons why it is necessary to complete the puzzle of genetic factors that influence its development to a greater or lesser extent. Deciphering the genetic causes of the disease will allow us to better understand the biological mechanisms involved in it and identify points where therapeutic action could be taken.

A recent study led by researchers at the Australian National University, with Spanish direction and participation, has just taken a very important step towards better understanding lupus.

The researchers have identified a genetic cause of the disease that offers a new path for the development of treatments: the presence of gain-of-function variants in TLR7, a gene involved in protecting the immune system against viral infections. The results are published in Nature.

Identifying the connection between TLR7 and lupus

The TLR7 gene encodes a receptor, also called TLR7, that recognizes single-stranded RNA molecules derived from viruses and bacteria and activates the immune system in response. In addition, it can also be activated by the nucleoside guanosine and its endogenous derivatives, although this does not normally represent a threat to health because it occurs to a lesser extent.

Previous studies had already suggested that TLR7 function played a role in systemic lupus. Increased activity had been found in some B lymphocytes from patients and some common polymorphisms were associated with the disease. However, until now no genetic change had been identified in the TLR7 gene that had a determining effect on the onset of lupus.

The first direct link between the TLR7 gene and lupus was found when sequencing the genome of Gabriela, a young Spanish girl who had been diagnosed with a severe case of the disease at the age of 7. The severity and early onset of lupus led researchers to believe that it must be a case caused by a single genetic mutation.

By analysing Gabriela's entire genome, the researchers found a variant in the TLR7 gene that was likely to cause lupus: p.Tyr264His. Various elements pointed to the variant as being responsible for the young woman's disease: the variant caused an amino acid change, it was located in a region of the protein conserved between species, and the computer programs used to predict its effects indicated that it was a harmful variant.

As further evidence, the researchers found two more variants in TLR7 when analyzing the whole exome of other patients with systemic lupus, without detecting changes in any other known lupus-related genes in the implicated families.

Mutation causes lupus when introduced into mice

Based on functional studies in cells, the researchers found that the presence of the p.Tyr264His variant produces a TLR7 protein with greater affinity towards certain endogenous ligands with guanosine that, normally, would not activate the protein, which could explain the development of the autoimmune reaction characteristic of lupus.

To confirm the mutation's role in the development of lupus, the researchers introduced the mutation into mice, creating a strain they named kika, in reference to the name Gabriela had given to a stuffed animal she had been given during one of her hospital visits.

The team observed that the mutation (also called kika) was enough to cause lupus in the animals, which developed different autoimmune symptoms and experienced various organ damage.

The results explain why lupus is more common in women

The study also offers an explanation for why 9 out of 10 people with lupus are women. The TLR7 gene is located on the X chromosome, so that people with a male chromosomal sex have one copy, while those with a female sex have two.

As a biological mechanism of dosage compensation, in women one of the two X chromosomes is inactivated in their cells. However, TLR7 escapes inactivation in immune cells, which leads to the fact that in women there may be two active copies compared to the single copy present in male cells.

Thus, if there is an autoimmune response influenced by TLR7, the effect may be greater in women. And if, in addition, they are carriers of a variant that increases the affinity towards endogenous ligands such as the p.Tyr264His variant, its impact would be even greater.

The opposite example has been observed in the case of the response to SARS-CoV-2 infection, where the presence of genetic variants that produce a deficiency in TLR7 has been linked to a higher risk of developing COVID-19 in men.

Relevance for the development of therapies for lupus and other autoimmune diseases

The study shows that the identified TLR7 gain-of-function variant is sufficient to induce lupus, at least in mice. This result, together with previous data, offers an important step forward for the development of therapies for the disease.

“Even though there are only a small number of people with lupus who have variants in the TLR7 gene, we know that many patients have signs of overactivity in the TLR7 pathway,” said Nan Shen, co-director of the China-Australia Centre for Personalised Immunology, who was involved in the study. “By confirming a causal connection between the gene mutation and the disease, we can begin to look for more effective treatments.”

The team is currently working with pharmaceutical companies to develop or adapt treatments targeting the TLR7 gene that could be beneficial for lupus patients.

These treatments could also be relevant for other autoimmune diseases. “There are other systemic autoimmune diseases such as rheumatoid arthritis and dermatomyositis that fit into the same family as lupus,” says Carola Vinuesa, a researcher at the Australian Centre for Personalised Immunology, co-director of the China-Australia Centre for Personalised Immunology and director of the work.

“TLR7 could also play a role in these conditions,” says the researcher, who has formed a new research team at the Francis Crick Institute focused on identifying the mechanisms that contribute to the development of autoimmunity.

Another question that researchers point out as pending resolution is whether certain environmental stimuli such as the presence of viruses that can activate TLR7 (as is the case with SARS-CoV-2, responsible for COVID-19) can exacerbate the effect of the variant.

Reference: Brown, GJ, Cañete, PF, Wang, H. et al. TLR7 gain-of-function genetic variation causes human lupus. Nature. 2022. DOI: https://doi.org/10.1038/s41586-022-04642-z

 Hey there! If you’re reading this, chances are you or someone you love is navigating the complex world of diabetes. I want to share my journey with you—my highs and lows, my triumphs and challenges. Hopefully, my story can offer some comfort, understanding, and maybe even some helpful tips along the way.

The Diagnosis: A Life-Changing Moment

I still remember the day I was diagnosed with diabetes like it was yesterday. I was feeling unusually thirsty, tired, and had to go to the bathroom all the time. After a routine check-up and some blood tests, my doctor gave me the news: I had diabetes. My world turned upside down.

Q: What are the common symptoms of diabetes?

A: Common symptoms include excessive thirst, frequent urination, extreme fatigue, and blurred vision. If you’re experiencing any of these, it’s important to see a doctor.

The Early Days: Adjusting to a New Normal

The first few weeks after my diagnosis were the toughest. I had to learn how to monitor my blood sugar levels, take my medication, and drastically change my diet. It felt overwhelming, and I often wondered, “Why me?”

Q: How do you manage blood sugar levels?

A: Managing blood sugar involves regular monitoring, taking prescribed medications or insulin, and maintaining a healthy diet and exercise routine. It’s crucial to work with your healthcare team to find the right balance.

Finding My Rhythm: Embracing the Changes

Over time, I found my rhythm. I discovered that a balanced diet and regular exercise made a huge difference in how I felt. I started cooking more at home, focusing on fresh, whole foods. Exercise became my friend—not just for my body, but for my mind too.

Q: What kind of diet is best for managing diabetes?

A: A diet rich in vegetables, whole grains, lean proteins, and healthy fats is generally recommended. Avoiding processed foods and sugary snacks helps keep blood sugar levels stable. Consulting with a nutritionist can provide personalized guidance.

The Support System: Leaning on Others

One of the most important things I learned is that I couldn’t do it alone. My family and friends became my biggest supporters, and I joined a local diabetes support group. Sharing my experiences and hearing from others who understood my struggles made a world of difference.

Q: How can you find support when dealing with diabetes?

A: Support can come from many places—family, friends, healthcare providers, and support groups. Online communities can also be a great resource. Don’t be afraid to reach out and ask for help when you need it.

Living Well with Diabetes: A Continuous Journey

Living with diabetes is a continuous journey. There are good days and bad days, but I’ve learned that it’s okay to have setbacks. What’s important is to keep moving forward, stay informed, and take care of yourself.

Q: What can you do to stay positive while managing diabetes?

A: Staying positive involves maintaining a balanced lifestyle, setting realistic goals, and celebrating small victories. Mindfulness practices, such as meditation and yoga, can also help reduce stress and improve your outlook.

A Message to You: You’re Not Alone

If you’re dealing with diabetes, remember—you’re not alone. It’s a challenging road, but with the right tools, support, and mindset, you can live a full, healthy life. Don’t be afraid to reach out, ask questions, and take it one day at a time.

Q: What’s the most important thing to remember about managing diabetes?

A: The most important thing is to stay proactive and informed. Regular check-ups, monitoring your health, and making lifestyle adjustments are key. Remember, managing diabetes is a marathon, not a sprint.

The Best Foods for People with Diabetes

As someone living with diabetes, I've learned firsthand the impact that diet can have on managing blood sugar levels and overall health. Finding the right foods to eat can sometimes feel like a daunting task, but I've discovered that making smart, informed choices can make a big difference. Here, I'd like to share some of the best foods I've incorporated into my diet to help manage my diabetes effectively.

1. Leafy Greens

Leafy greens like spinach, kale, and Swiss chard are incredibly nutrient-dense and low in carbohydrates, making them an excellent choice for managing blood sugar levels. They're rich in vitamins, minerals, and antioxidants.

Q: Why are leafy greens beneficial for diabetes management?

A: Leafy greens are low in calories and carbohydrates but high in fiber, which helps regulate blood sugar levels. They also provide essential nutrients that support overall health.

2. Berries

Berries such as blueberries, strawberries, and raspberries are packed with antioxidants, vitamins, and fiber. They satisfy my sweet tooth without causing a spike in my blood sugar levels.

Q: Can people with diabetes eat fruits like berries?

A: Yes, berries are a great option because they have a lower glycemic index compared to other fruits, meaning they have a smaller impact on blood sugar levels.

3. Whole Grains

Whole grains like quinoa, brown rice, oats, and barley are much better for blood sugar control compared to refined grains. They provide steady energy and are high in fiber.

Q: What makes whole grains better than refined grains for diabetes?

A: Whole grains are less processed and retain more nutrients and fiber, which slows the digestion and absorption of carbohydrates, helping to prevent blood sugar spikes.

4. Lean Proteins

Including lean proteins such as chicken, turkey, fish, tofu, and legumes in my diet has been essential. They help keep me full and provide the necessary nutrients for muscle maintenance without adding excess fat.

Q: Why is lean protein important for people with diabetes?

A: Lean proteins help stabilize blood sugar levels by slowing the absorption of carbohydrates and promoting satiety, which can prevent overeating.

5. Nuts and Seeds

Nuts and seeds, such as almonds, walnuts, chia seeds, and flaxseeds, are excellent sources of healthy fats, protein, and fiber. They make for great snacks and can be easily added to meals.

Q: How do nuts and seeds benefit blood sugar control?

A: The healthy fats, protein, and fiber in nuts and seeds help slow down the absorption of sugar into the bloodstream, which helps maintain stable blood sugar levels.

6. Non-Starchy Vegetables

Non-starchy vegetables like broccoli, cauliflower, bell peppers, and zucchini are low in calories and carbohydrates but high in essential nutrients. They're versatile and can be included in many dishes.

Q: What is the advantage of eating non-starchy vegetables for diabetes?

A: Non-starchy vegetables have a minimal impact on blood sugar levels and provide vital vitamins, minerals, and fiber that support overall health.

7. Greek Yogurt

Greek yogurt is a great source of protein and probiotics. I enjoy it as a snack or breakfast option, often adding a handful of berries or a sprinkle of nuts for added flavor and nutrition.

Q: Is Greek yogurt a good choice for people with diabetes?

A: Yes, Greek yogurt is higher in protein and lower in carbohydrates compared to regular yogurt, which helps keep blood sugar levels stable. Just be sure to choose plain, unsweetened varieties.

8. Avocados

Avocados are rich in healthy monounsaturated fats, fiber, and a variety of vitamins and minerals. They add a creamy texture to meals and help keep me feeling full longer.

Q: How do avocados help manage diabetes?

A: The healthy fats and fiber in avocados help slow digestion and improve blood sugar control, making them a great addition to a diabetes-friendly diet.

9. Fish High in Omega-3 Fatty Acids

Fish like salmon, mackerel, sardines, and trout are high in omega-3 fatty acids, which are beneficial for heart health—a key consideration for people with diabetes.

Q: Why are omega-3 fatty acids important for people with diabetes?

A: Omega-3 fatty acids reduce inflammation, improve heart health, and may help improve insulin sensitivity, which is crucial for managing diabetes.

10. Beans and Legumes

Beans and legumes such as lentils, chickpeas, and black beans are excellent sources of plant-based protein, fiber, and complex carbohydrates. They provide sustained energy and help keep blood sugar levels stable.

Q: Are beans and legumes good for blood sugar control?

A: Yes, their high fiber content slows the digestion and absorption of carbohydrates, which helps maintain steady blood sugar levels.

Incorporating these foods into your diet can make a significant difference in managing diabetes. Remember, it's all about balance and making informed choices. If you have any questions or need more personalized advice, don't hesitate to reach out to a nutritionist or your healthcare provider. Together, we can navigate the journey of diabetes management and live healthier, happier lives.

Thank you for reading my story. I hope it resonates with you and maybe even helps you on your own journey. If you have any questions or just need someone to talk to, don’t hesitate to reach out. We’re all in this together.

Yesterday: Saturday, beautiful day, not too much sun, a little wind, the perfect day for shopping, for the young lupus completely broken that I am. Direction the Four Times Shopping Center in La Defense, in addition there was not a lot of people, it's top shopping without jostling, except perhaps at the H & M swimwear department: 9 € a top and a bottom! But I have not cracked.

A few purchases and 2h later, Claudia was no more!!! I exceeded my "daily market quota", the famous 2h. Pain in the feet, calves, thighs, lower back, back, arms, forearm, shoulders, in short nothing escaped. But I wanted to persevere, or rather abuse, and I stayed 1h more: 1h of self torture. Where I really regretted not being back? When leaving the Castorama of the Four Times, the vigils prevented me from going out, because according to them I opened and stole a pack of screwdrivers. Oh my god I wonder how I did to stay calm, because that kind of accusations to the con, I usually get carried away quickly. Finally? No pursuit and of course I did not steal screwdrivers that people can be stupid sometimes.

The quota of 2h was largely exceeded with all these events: the time lost in Casto, the return time to go home. Finally on the way back, I spent one of my worst nights of 2010, with this shoulder pain in-su-por-ta-ble!!! I have often had this pain, it's a dog's pain, it's persistent, and the inspiration is even worse. I almost want to tear it away and it stayed until this morning.

This is the pain that I'm always afraid to have, so the feeling is not liveable! Nooo I do not abuse, we do not hold in place, we just want to close our eyes and hope that it goes back by reopening, but it's not so simple!

Plaquenil? It does not really affect me... A radio? We see nothing! A massage? It relieves the time of the massage, but when it stops, it comes back.

So where was I wrong? To have wanted to go out, to make my Saturday a banal day as for so many other people? Where I was wrong from the moment I exceeded my quota? Because if that's it, so stay at home, because going out for 2 hours of pseudo fun: so much nothing to do with his day, and stay at home. 

I just wanted to make me happy , it's not often that I go out, shopping is rare, and now 3h have completely broken me in 15! And after? We must lie to ourselves with these kind of little phrases that are supposed to cheer us up, like: "we do with!", Or, "we make go!"

I want to do "with", provided that this pain con fuse peace to my shoulder :(

And passions then? The hobbies?

At the end, we have the right to have what passion for having an LED? Well yes, because sport is a little dead, with our heart problems, asthma, joint problems and / or muscle, the less we do, the better we go! So what? Drawing and painting? I drew a lot at one time, but today I have very (very) badly the arm, fingers and wrists for.

So, writing? Same, as typing on a PC keyboard by the way, it hurts, it is tiring force. And like any activity that hurts, fatigue etc., it puts me in a state of atrocious rage, because things I want to do, but I can not! One of my biggest obsessions is to drop something on the floor , because it's quite an art of bending down without getting tired! lol ahlala Sad tragic world!!!

So, I found the picture. Reflex, and presto photos! It's not too tiring in itself, it's nice, and it's beautiful. But hey, it's mostly a solitary activity, outdoor, to practice in good weather.

Me: I would like to do a sport, any one, and go home without having the back fart and aches that will not leave me so soon. I wish I could write, by hand or on pc without hurting hands at the goal of a quarter of an hour.

I would like to do a lot of activities, and be in shape, at least a little more vitality, be able to get up from my seat without having the head spinning, a thigh that is "crack", a neck that hangs, a foot cramp etc. One of the hardest things, I think it's when I'm alone at home, with no activity to take care of: I start thinking about everything I could do, that I do not not.

The friends? lol let's talk! At the time "60mg cortisone / day", I had to make a cubic meter something like that! When you are fat and ugly, you represent no danger for girls of your age, we are nice full with you, ah yes :D

But when you go to 2mg / day because you have a cool hemato but crazy enough around the edges, and you lose in 3 months all the weight in excess, and you end up with a size 36 and 55kg for 1m65, and you can eat without getting fat, there is a problem for "girlfriends".

Because they have all grown, and I, minci... So it is based on criticism: "you are anorexic, you eat a lot that before us, at home you must make you vomit etc". Why do they think that? Surely because my dark circles disturb them ohlala! rings that many lupus have also lol and they know my dirty eating habits, and are perhaps jealous who knows. But there's nothing to be jealous of, I would still prefer with weight problems for life, and no LED.

And after, the disease? I could talk to them every day for hours, they are way too stupid or stupid I do not know, to keep 1 / 10th of the definition of "Lupus". Nah I'm not really surrounded, our reports is mostly based on bad reviews, but do not think that I let myself do, when it goes too far, I know open!

To summarize, I feel damn when it is ugly like today, that there is not much to do, or at least I can not do much. And this cold that hurts, which brings a lot of pain: it's not great. It's even downright depressing :-(

So: ideas of hobbies, for a lupus pseudo anorexic, according to these dear friends? (And no, I'm not anorexic lol I just found my body and metabolism before the cortisone)

I am a student, I work at night for the town hall of my city, with kids in "school failure". In 2 weeks, Saturday, May 29, we have a party, a kind of carnival, where we are supposed to parade, dance, walk in the streets of the city, from 12h to 19h.

Big problem: how am I going to do? How can I keep more than 1 hour to walk? From experience, I know it's useless to talk to my boss, because I work with one of my friends, who was supposed to know since 2002, when I told him about it, that I suffer from an LED. However, she "forgot" it, and when it was about a month ago she asked me what I had in the face (mask of the wolf), and that I replied that it was a lupus, she looked surprised that I did not speak to her before. Thank you for being my friend, it's great (pseudo) yupi friends!

So talk to the superior, even if I get along well, so that he understands nothing: no thank you.

People in general react to me as my father: According to him, I am in good health because: I get up in the morning, I shower, I feed myself, I have a social life. He does not understand anything, although he has been aware of my state of health since 1996. For him and for many people, since I found a normal platelet count following my removal of the spleen : all is fine But we know that no. The purpura was just one problem among many others, the e having platelet today, does not make me a miracle lupus.

May 29, I'm going to be broken, KO, crumbling, this fucking shit Saturday that's already getting on my nerves, because I know I'm not going to hold more than 1h, will sign my death sentence, oh yes it's going to be unsustainable, I can already see the back farting, limping, with my bones that will crack everywhere, ohlala...!

I have a cane, I use it from time to time, but I have never used it before them. I am afraid that my position and my skills will be challenged with respect to my health, especially that in June, we will have a meeting to find out who is left, and who will leave next year. I would be in my last year of BTS, a job of 2h / evening would be top, just to make me money but move a little too, but if they realize how much I can be limited in my movements, they may not want me anymore :(

It is unfair that the disease is so misunderstood. I do not even mention the fact that no one knows it, but those who know it, like my father for example, or some of my friends, ignore it. They have nothing to wank! (It's not vulgar! It's totally realistic, and therefore justified.

News and a sport to practice, even for us!

It is said that money is not happiness and it is true! Nothing would make me happier than spending a whole day in good health: by that I mean without pain or fatigue. It happens to me from time to time, but it's so rare! Once or twice a year...

Ahh when I hear some people say: "I'm tired, I spent the day to move in all directions, I'm exhausted", how I would like to be tired too for the same reasons and tired for doing things, and not dead "for nothing"! 

I have no friends, no one to talk to, talk about futile things like most girls of my age, no girlfriends with whom to talk to dudes etc. I'm not bad, I'm not so bad that nobody wants me. So what? The girls I was hanging out with do not want to go to school anymore because I have become too much of a watcher for the guys on the street, since I went from a 44 to a 36 (and 60mg of corticoids / day, at 2mg). I've "melted", and it bothers them: "Do you think you're at the beach to put on a tank top?", "Do you believe where to put a dress?". Frankly, if it is to hear such comments completely derogatory and useless, I still prefer to stay alone. I would say that it's people to whom I explained my health problems six years ago, and that except "and that's it, it's nothing like that!", I'm entitled to nothing other. Today, they do not even remember it.

You do not find that a little bit abused? lol it's stupid and foolish to be rejected because we're 55kg, whereas when I was 75kg, everyone liked me. My character has not changed so far, I am even more friendly and open today.

I'm ready to "lie", basically not to shout, to walk "properly" in public, people are stupid and suddenly are embarrassed by some attitudes that I could have , I never complained to my friends. But it does not happen! I must believe that I am not made to befriend people!

If I can not have friends, I must find myself a new occupation, something: cool, not tiring, which is an interesting minimum (at least for me). And I found! Fast no!

Did you see the ad for this new style of golf, the street golf, made in Decathlon? I cracked for 2 things: it's colorful lol, and: no need to bend down, nor farting back : just take golf ball with the club: there's a place provided for this purpose, nickel for people like us lol.

It's called "Ygolf". I tested, and I honestly found it fun, fun, and there are two clubs (to play 2), 4 balls, and a target / hole. It is light lol other good point, it is transported without being burst so far. Play this, in a large park with hills, in the early evening when it is always a bit warm, but the sun starts to leave: it is super nice and relaxing. It is a style of golf made to relax and laugh, very far from the classic golf! 

No need for superhuman strength, the balls are not rigid, the clubs are light, the carrying bag is practical. In short, I am happy, I will be able to practice a funny sport: street golf, within the limits of my state of health of course! 

I who complained a while ago of not having an occupation, I found one, which replaces a lot of useless things, and which fills my free time. If you have other ideas, just as tiring, I listen to you :-)

How beautiful and magical these holidays! No problem, no confusion, and a pretty destination! Departure in the evening by car from the Paris region, for an arrival on Toulon early morning, to take the ferry that was to take me to Corsica: Everything went absolutely well, the road is long (+/- 800 KM) but arrived at km 400 problem! problem!

The speeds of my car have begun to let go. The 5th is in neutral, the 4th, does not want to engage lol and speeds are "wedged" without being fully engaged. Super hard of them pass, had to do both hands while trying not to break the box! It would have been more than tragic there.

I arrive somehow on the boat after having traveled 350kms like that. Leaving the boat it took me 15 minutes to put the 1st and so good! 

On Ajaccio, once installed, I call my assistance that sends me a tow truck right away. Super bad guy, who tries to make me believe that it's my clutch that has let go, and there, the bums start! We take my car to Volkswagen, who tell me the same thing. Except that I insisted on checking the oil of the box. 3 days to ride in a replacement car, 3 days to learn that it was "just" box oil! The emptying, the car rolled like clockwork and from there, that happiness in this holiday!

I love the beach! I was spoiled there : the beaches are beautiful there , the water is transparent / turquoise blue, it's superb! The sea is warm (warmer than cold!), And the beaches are for some very difficult to access by car (crevasses enermous ground, no tar etc) and suddenly, they are almost deserted! 

The views of the mountains are superb too. The fans of gastronomy will be disappointed by cons: the restaurants are 80% pizza and paws... bof we find all year round on Paris paws and pizzas lol. The rest of the holidays went well and I found Paris (too depressing) on September 4th, sniff! To speak health, no problem of the mask style of the wolf or others. Just the same huge fatigue and pain, except that, nothing to report, and it's pretty cool! I was able to tan, not to change the sun LOL, I have a hard time avoiding it oddly: p

What an absence!

I have been away for a long time from my blog, but there is an explanation for everything. First, my BTS (1st year), he was in danger lol I had about 5 months to complete 2 semesters of courses and homework because of my late registration. So, I was less often present behind the pc, hence my absence from the blog and its Facebook page.

The school year is over, I am pleased to announce that I have validated , with the small average of 13.5. Could not do better in 5 months lol I had too little time! But I'm already asking a lot of questions for next year! Still courses via the CNED, or alternation? Who says alternation, says school / work, and I'm afraid of the fatigue that it can cause, because after 2 weeks I know that I will be OK!

If you have any opinions or suggestions: I'm listening! Working with the kids took me a lot of time too with the extra hours , and end of year meetings, but all that is over too: Long live the holidays but, I still do not know where to pass them mine mdr ^^ (again, if you have suggestions.....!)

I had a few moments of tiredness, fever, re-tired, fed up sometimes too (if so!: O) but now I intend to take advantage of the 2 months of vacation to re-po-ser! Then, I would like to make a small reminder of Saturday: Lupine lunch , in a creperie in Montparnasse. It was nice like everything, I met in "real", great people and very nice! We put that back?

Hello everyone! Today I am going to talk to you about a topic that is very interesting for lupus in general, since about 9 out of 10 people with lupus are women. If I was so far away from my blog, it was not because I was fed up or more time. Simply, many events were chained, and not the happiest, this last year.

At the end of 2011, I learned about my pregnancy. Obviously it was wanted, no push in sight. I have just had ultrasounds every 2 weeks up to 22 / 23SA, because my anti SSA body being positive, it can affect the heart of the baby. After 22SA, it's every month until the end. At 24SA, I had a routine ultrasound. I have been told that since the last ultrasound (which had taken place 2 weeks ago) the baby had not grown at all, and that there was no longer a drop of amniotic fluid.

They send me home, just saying that it would not move, no improvement to hope for such a small term, and should consider the IMG. But 2 days later, I am taking violent epigastric pains. There I go to the maternity ward where I was being followed, and they send me home, telling me it's nothing. I had a tension at 14/9, beyond we act, until 14/9 we do nothing!

I stayed for almost a week with this pain that prevented me from living properly: I could not even press the accelerator pedal of the car for example.

I go back to maternity emergencies at 11am, and I do not go out any more. At 22h I'm told: that I'm having a pre-eclampsia, hence the 21/9 of tension, and that I'm also doing a HELLP Syndrome:

my kidneys were not working anymore (I was not urinating anymore), the liver either (I was yellow from head to toe), I was doing trombopenia (platelets had dropped to 15,000) My motherhood can not do anything for me (level 3 anyway and one of the most famous in passing), they transferred me elsewhere, around midnight. 

At 7 am I was an emergency caesarized for maternal rescue. Our daughter, my partner and I decided not to intubate at birth, because she had absolutely no chance, her stunting was extremely severe.

Over time, I learned that my pregnancy had caused the appearance of anti-phospholipid anti body, which I had never had before. This caused multiple micro thromboses of the placenta, which caused him to grow, so the baby could no longer develop. 

Following this, these antibodies are negativés. I was warned: no pregnancy for 1 to 2 years, and there. I fall pregnant 3 months later a contraceptive accident. The doctor who gave me a Cesarisée saw absolutely no incognito in the continuation of this pregnancy. However, more follow-up was put in place, including day hospitals every month, and shock treatment, since the antiphospholipid antibodies are still back during pregnancy!

I still had hypertension 3 weeks before the planned cesarean, but it never went as far as the first time (16/9 maximum).

So my balance sheet:

I do not want to scare anyone, but I'm quite fatalistic in general, not especially because of my health, it's my character. I would say to conclude this article, that even in being in remission, a pregnancy with lupus is not without risks.

Obviously, we are more likely to have a pregnancy that ends, being in remission. But in my case, I was absolutely not in thrust, and yet, the fate was hard. Well, for the moment, I am formally forbidden to fall pregnant in the next 2 to 3 years, especially for my body / health! So caution is needed  

The professor who has césarisé for the two pregnancies, has always been of extreme sympathy. He even came to visit us one morning, at the maternity ward. I would not hesitate a second to follow me again, if future pregnancy there is. 

PS: I did not write this article to scare or pity. Basically, this blog was a crazyness, where I told my life, my daily life with lupus, even if the subject is not very happy, it's not taboo either to the point of not talking about it. I am neither the first nor the last to whom it happened, and if the end of this story can comfort many, I would be more than happy! Image credit by: mymeenalife.com

The Lupus is a chronic disease in which, for some unexplained reason, the immune system defense cells attack the patient's body. The symptoms vary according to the individual and are multiple: fever, tiredness, pains, disturbances of the vision, nephropathy, swelling of the joints, cutaneous plates with crusts.

This week Claudia, a member of the Lupus community, is giving us a hand and telling us about her daily struggle with the disease. She is also the editor of a  blog on Lupus, entitled "Lupus sucks", on which she testifies of her experience.  Here is an interview with me with the Carenity Blog. Good reading!

Your daily life with lupus

Carenity: Hello! Can you introduce yourself in a few words?

Lupus interview: My name is Claudia, I'm 26 years old. In a relationship for 8 years, I am today the happy mother of a 3 months old baby boy. I am currently looking for a job in the field of Communication.

Carenity: When have you been diagnosed with lupus? How did it go?

Lupus interview: I was diagnosed with my Lupus at the age of 9 in 1996. I was young, which was surprising at the time. It was at the Children's Hospital of Lisbon. At that time, there was a lot of talk about Lupus in Portugal: Spots TV, Lupus Association, and even a TV series typified "Emergencies" that dealt with patients with Lupus, often episodes were based on cases of real patients. So when at 9 years old I became aware of my illness, I already knew her a little bit. My mother took me to our doctor, following the appearance of petechiae (small red to purplish skin spot) on my face. neck and ears. Neither my mother nor I suspected that it would be a PTT (thrombotic thrombocytopenic purpura). This purpura dropped my platelet count extremely low, and soon after I was diagnosed with Lupus. (Besides, the doctor who diagnosed me at the time, was herself lupus!).

Carenity: How does your illness affect your daily life (social life, work, personality)?

Lupus interview: Tiredness and the pains, for my part, continuously are extremely disabling for two reasons: - Even when I'm not in Lupus, I feel constantly deprived of all my energy. It is difficult to get up in the morning, to prepare, to go out, to go to work, to walk, etc. Difficult to have a normal life in these conditions. Whether I sleep 3h or 15h at night, the result will be the same on my physical state. - Fatigue and pain are not seen, but are felt. So I'm not very credible to people in general, when I refuse an outing or an activity, or that arrived in the middle of the day, I'm already flat, etc. People have a hard time believing in something they do not see, and tend to downplay (according to my experience) the feelings of the sick.At the level of family life / friends, I am often confronted with an "oblivion" of my health problems, or misunderstanding. And at the work level, for me, it's very hard to follow physically. I would move in the future towards a post with arranged schedules.

Carenity: What are your priorities / goals right now?

Lupus interview: For now, one of my priorities is my son. My pregnancy was very hard with the disease, very monitored, stressful, etc. Now that all this is over, and my little boy is here, I intend to spend a lot of time with him! But I'm also thinking of returning to a professional activity, towards the end of the year!

Carenity: What makes you happy in life?

Lupus interview: Feel good, fit, just be happy! I like going out in general, and I love especially the summer and the beaches! The sun is not my "enemy" , unlike the majority of patients with lupus, so with the agreement of my doctor, I take advantage of this summer period.I like cars, motor sports in general! I also like animals: dogs, ducks, turtles: I love them all haha! But I only have a little poodle called Liquorice! 

> Your blog and your vision of the patient 2.0

Carenity: Why did you create your blog "Lupus sucks"? To whom it is addressed ?

Lupus interview: One day I fell on the blog of a lupus, and I began to read (The dialysis and Lupus of Mary, in my links). She seemed happy, and seemed to be able to combine sickness / everyday life. I contacted her, talked to her and she advised me to create a blog to "empty my bag". But very quickly, I realized that many people newly diagnosed for the vast majority, with very different attacks, read me, and wrote to me. From a crazyness, my blog is then passed to information, or support to other patients. Today my blog is intended especially for lupus and their relatives, who seek to better understand, by the remarks that I make about my experience. I receive a lot of messages from relatives. Some,

Carenity: What is your vision of the patient "actor of his health" and the evolution of his relationship with the doctor?

Lupus interview: I am lucky to be followed by a very good hematologist who understands me and listens to me. He makes every effort to improve my health, and always explains things to me without taboos. In addition, he is nice, smiling, and that, it is also pleasure! Being an actor of his health, it is above all to be aware of his health, and to make every effort to keep himself in good health. It is not feeling submissive, crushed by illness, but on the contrary to appropriate his health, establish a dialogue and make decisions with his doctor. It's getting involved in your illness, at least finding strength and courage to improve your daily life.

> You and Carenity

Carenity: What made you join the Lupus Community on Carenity?

Lupus interview: I knew Carenity only by name, and it was after a contact with a Carenity interlocutor that I started. I did not think there would be so many lupus patients! So initially, it was curiosity, seeing how it was done, etc. In the end, I find the concept well thought out!

Carenity: What makes you want to come back to Carenity?

Lupus interview: The forum is a real place of exchange and sharing. We can all help each other by sharing their experience with each other, despite our attacks, which are often very diverse and varied. When I was younger, I would have liked to meet people suffering from the same pathology to exchange. Today, it seems logical to share my experience, and if he can reassure, inform, or simply answer the questions that patients ask, I am delighted!

Carenity: The final word ?

Lupus interview: I thank Carenity for giving me the opportunity to write these lines. Thank you also for this site that allows us to feel less alone, less misunderstood, and to meet people in the same situation as us. 

Thank you very much Claudia for this beautiful testimony! He brings a lot of support and hope to this chronic Lupus disease. If you also want to exchange, reassure or simply find information on Lupus, do not hesitate to join the Lupus community on Carenity.

The beautiful stories always begin with "Once upon a time...". The history of Lupus does not derogate from this tradition! When I was young intern in medicine, I was immediately fascinated by this so bizarre disease with the enigmatic name. This fascination was transmitted to me by Maxime Seligman, father of the French clinical immunology when I had the chance to work in his service at the St Louis Hospital in 1988. This passion for immunology and this fascination for the Lupus had allowed him thanks to his curiosity and his perseverance and this rigor so important in the medical art.

Lupus was already a famous disease, the subject of many fetish researches. On the other hand, the disease was unknown to the general public, but also to most doctors. What progress has been made since then in so many areas! The knowledge of the disease, its care and its recognition in the medical world and the general public!

The understanding of lupus has been considerably "sophisticated" for 20 years. This disease still seems a little complex, but today we have a fairly consistent picture of what could cause and maintain lupus. Everything is more coherent, but it is not (yet) possible to determine individually what specific mechanisms are involved. The combination of original immunological and genetic data gives us, at the discretion of the discoveries, new "pieces" of this great puzzle that is lupus. Thus, "coin searchers" must also become "coin depositors" in order to give overall coherence to all these advances.

The mystery of lupus rises slowly because we know now triggering factors (ultraviolet, toxic) capable of stimulating innate immunity (ie our archaic immunity) to make it produce interferon that participates in the amplification and runaway of the immune response. there will be so much progress that I am sure that within a few years we may be able to predict the onset of the disease or its outbreaks and certainly better manage it. 

The management of the disease has progressed considerably! The diagnosis is facilitated by a good knowledge of the clinical signs of the disease and especially thanks to excellent biological tests that detect the "famous" autoantibodies (antinuclear antibodies) that are so characteristic of this disease. Today, any laboratory can have these tests that greatly facilitate the diagnosis of this disease provided of course to prescribe! Thus, in my first years as an "immunorheumatologist", I still remember thinking about subtle interpretations of antinuclear antibodies on layers of rat liver prepared by Françoise Danon! And what heated discussions all these years for the interpretation of these tests with Joëlle Goetz, my "faithful accomplice" Strasbourg auto-immunity! These diagnostic advances would not have been important without the tremendous therapeutic advances. Twenty years ago, the daily life of a "lupologue" was a subtle hesitation between corticosteroids, Plaquenil and possibly a powerful immunosuppressant (Azathioprine or Cyclophosphamide).

Nevertheless, in the service of Maxime Seligman, since the early 1990s, we had already used the first anti-B lymphocyte biomedicines that were therapeutic monoclonal antibodies of murine origin, very effective, but so poorly tolerated! Since then there has been major therapeutic progress, with studies to better use conventional drugs such as Cyclophosphamide, but also new drugs such as mycophenolic acid and now the first biomedicines to block lymphocyte B or possibly other important molecules in lupus. Twenty molecules are being evaluated and we will see in the coming years those that can really change the lives of our patients. The hope is great and we can even hope to apply the concept of "personalized medicine" in lupus. Thus, the ideal will be to use "the right medicine, at the right dose, at the right time in the right patient" even if it does not cure the disease, it will be a guarantee of efficiency and effectiveness. good tolerance.

Thanks to the fantastic work of everyone and first of all the patient associations, lupus is today a known and recognized disease. Who could have imagined 20 years ago that there would be a world lupus day? This recognition is of major importance for patients who need to know that their disease is known to the medical profession and recognized by the general public and health authorities. This recognition has helped to create information and educational tools such as "Lupus in 100 questions", and to involve patients in therapeutic education projects so appreciated.

Thank you all for helping to "get the wolf out of the shadows" and "fly the butterfly in the light"! You will recognize the symbols of this disease that remains for us the subject of so many discussions, projects and exciting work. I hope, in 20 years, may be able to write the rest of this story with the inspiration of Alexandre Dumas, in all humility, of course (20 years later)!