Takayasu’s Arteritis vs Chiara – 0:1

by Erica Fiorini

In this article you will read about Chiara’s rare condition, the Takayasu’s arteritis. You will discover how difficult it is to get a conclusive diagnosis when there is a rare disease at stake.

Takayasu’s arteritis (TA) is a rare disease consisting in a form of large vessel granulomatous vasculitis, an inflammation of the blood vessels. It’s also called “pulseless disease” because it causes blockages of large arteries of the neck and arm, leading to pulses that cannot be felt, a normal condition in people who suffer from low blood pressure. TA has a preference for the aorta and its branches (see Figure). 

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Figure: Aortogramm of a 15-years-old girl with TA. Note the large aneurysms of descending aorta and dilatation of innominate artery. Adapted from an image of Christine Hom, MD.

Phagocytes are a type of cell in the immune system that protect the body, engulf, and destroy harmful foreign particles, bacteria, and dead or dying cells, and with the case of TA, they are unable to perform their normal function. In patients affected by TA, the phagocytes also attack the body itself because they wrongly recognize it as foreign.

Due to its symptoms, which can range from fever to ischemic symptoms (absence of blood flux to tissues), this disease is often misdiagnosed. In addition most of the subjects start to show signs indicating TA between the 15-30 years old.

“For me it was a tragedy. It was like a doom.” – Chiara

I had the chance to interview a young woman affected by this disease. Chiara is 38 years old and discovered only at the end of 2014 to be affected by TA. “I had two months of physical exhaustion, cough, night fever, joint pain, fatigue. But this is not sufficiently exhaustive to explain the physical fatigue that I had.” Her doctors said that she should consider herself very fortunate to have received such a fast diagnosis. TA is very difficult to detect and cure and meanwhile the disease continues to damage the body.

Unfortunately she didn’t receive any information from the doctor about TA and “in the following months I fell into the trap of reading on the internet about the disease. I did read about extreme negative cases. For me it was a tragedy. Literally a tragedy. It was like a doom. Then I actually realized that having a diagnosis and a house are two big advantages.”

Mostly women are affected by this condition and its origin is still unknown. Moreover, it is most prevalent in Far East Asia, India, and Mexico. Scientists are working to discover the genetic origin of TA which will lead to a better understand of the illness mechanism and to develop therapies to more effectively treat it. Until now, genetic variants have been found in the HLA (human leukocyte antigen) region.

Chiara lives in Reggio Nell’Emilia (Italy), where the Rheumatology Department of the Santa Maria Hospital is specialized in this field and a reference point in Italy for vasculitis thanks to Professor Carlo Salvarani. More informations on http://www.vasculitisfoundation.org/.

The Italian health system covers “a very expensive biological drug, Humira: 4 shots for 2.000€ ($2,200). I need 2 shots per month.” Adalimumab, sold with the name Humira (human monoclonal antibody in rheumatoid arthritis), is a medication used for rheumatoid arthritispsoriatic arthritisCrohn’s disease, and many other autoimmune diseases. Humira binds to a receptor known as TNFα which thus blocks the inflammatory response of some autoimmune diseases.

Chiara’s life changed a lot even if the doctors told her to have a “normal” existence. She feels more tired compared to other 38 year old woman and often she is not able to play sports. She pays attention to her diet, but nevertheless she did gain 6/7 kg due to the cortisone shots that she also receives in addition to Humira.

“What I really care about is the possibility to have another child, but as long the disease is not in remission I can’t as it would be a pregnancy with many risks.”

Every two months Chiara has to undergo a series of tests and once a year she has to stay a whole day at the hospital for a complete check-up. “It’s hard to work full-time, but I do it anyway. I won’t give up! I try to live with less anxiety. Stress influences the immune system negatively, and is it true?!”

While surfing the Internet, I stumbled upon the history of Elain. On her Facebook page she describes the history, development, and achievements in the treatment of her TA. She wrote me a brief summary of her condition.

“It has been a life changing disease,” and she has not been able to work for a year now. Moreover the steroids gave her diabetes mellitus type 2, so she has to take insulin too. “I am pleased to help if I can because I have not spoken to anyone else with this as its very rare over here”

In September 2016, the FDA approved Amjevita (Adalimumab-atto), a biosimilar to Humira as the patent life for Humira has expired. Biosimilar is the term given to generic versions of biological products. Biological products consist of proteins, antibodies, and peptides. Amjevita is produced by another company and its competition to Humira should lower the cost of treatment.

 

About me – I’m from Italy and I moved to Zurich at the end of 2011 in order to do a PhD at the University of Zurich. I’m currently collaborating with CheckOrphan since November 2016.

If you would like to tell me your experience, help other people, or to enter in contact with Chiara please write me at rare.diseases@checkorphan.org.

5 Reasons You Should Give to CheckOrphan on Giving Tuesday

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Have you ever heard of Giving Tuesday? I hadn’t either until this year. It’s a day devoted to giving to charities, which is something we should all think about. Of course, there are literally thousands of charities out there that are worthy of your support, but I’d like to give you five reasons to consider CheckOrphan.

1. Rare diseases aren’t that rare.

Of course, every rare disease is rare, otherwise, it wouldn’t be on the list of rare diseases, but there are literally thousands of rare diseases — more than 7,000 rare diseases. That means that while you have a terribly small chance of having any one of these diseases when you add them all up, there may be 30 million people in Europe alone, who suffer from one of these diseases.

2. You or someone in your family probably has a rare or orphan disease. 

Giving to an organization which can help your family probably seems a little less than altruistic, but you’re not only helping your family, you’re helping everyone else who suffers from one of these orphaned diseases. For instance, I have three friends with children who suffer from mitochondrial diseases. One child has normal brain function but is fed through a tube, the second has physical and mental limitations but can walk and talk and learn, and the third will never progress beyond the mental capabilities of an infant. Scroll through the list of diseases—you might be surprised what you see.

3. Orphan diseases affect us in many ways.

When there are only a few people with any given rare disease, doctors aren’t great at identifying, diagnosing, and treating the disease. There isn’t the research to back it up and no pharmaceutical sales rep is knocking at their door, begging to share the latest treatment. Which means that if you have one of these diseases, the trips to doctors can be endless—trying to figure out what can possibly be done. One friend, who suffers from a rare autoimmune disorder, has a doctor who is more than willing to help, but limited in what he can do. It affects the amount of time she has to take off work. It affects how she can parent her children. It affects every aspect of her life—which means it affects her whole community. A solution would make many people’s lives easier.

4. Drug development is expensive.

People love to bash pharma for the amount of money they spend on marketing, but there are real costs in research and development. If a company can’t make back that investment, they aren’t as motivated to work on a treatment for that particular disease. That’s how diseases end up orphaned—there’s nobody really focusing on it and developing treatment options. CheckOrphan brings attention to these orphan diseases and hope to the rare disease community. That’s worth it.

5. People need support.

There won’t be magical cures overnight, but there can be hope. When research into rare diseases has funding, the victims of these diseases are given hope that there might one day be a cure. We should never underestimate the value of hope. Additionally, CheckOrphan can help people connect with others who are going through the same problems. That not only helps people emotionally—it can actually help them cope with the disease. If a person from Switzerland and a person from Australia with the same rare disease communicate with one another, they can also share how their doctors are treating them and their particular symptoms. Additionally, if the Swiss patient learns of new clinical trials with improved medication, they can share their information with their Australian counterpart, who can then try and find out if a similar trial exists in their country. Not all doctors are aware of every new or ongoing clinical trial and what hospitals are a part of it.

On Giving Tuesday, take the time to think about sharing a bit of your wealth with those who are helping out so many people with so many different problems. You’ll find it worth it.

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Photo credit: Wikimedia Commons. Barbara McClintock (1902-1992), Department of Genetics, Carnegie Institution at Cold Spring Harbor, New York, shown in her laboratory.

Help Make the World #ITPaware

September is national ITP Awareness Month in the US. Learn more from the Platelet Disorder Support Association and join us in Sporting Purple to raise awareness of ITP and other platelet disorders.

Idiopathic thrombocytopenic purpura is a rare disease that causes blood clots (thrombi) to form in small blood vessels throughout the body. These clots can cause serious medical problems if they block vessels and restrict blood flow to organs such as the brain, kidneys, and heart. Resulting complications can include neurological problems (such as personality changes, headaches, confusion, and slurred speech), fever, abnormal kidney function, abdominal pain, and heart problems. Learn more about ITP at CheckOrphan.org.

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Global PF Awareness Month

September is Global PF Awareness Month! The Pulmonary Fibrosis Foundation (PFF) has designated September as Global Pulmonary Fibrosis Awareness Month. Part of their awareness efforts include a #BlueUp4PF campaign.

CheckOrphan staffers were happy to go blue to help raise awareness of this rare disease.

Learn more about idiopathic pulmonary fibrosis.

Living in Spite of the Damocles’s Sword

by Stefano Torti

I was able to learn a lot about Huntington’s disease… but that woman’s dignified sadness still haunted me, so to speak. I kept thinking about her and her sons, especially the pre-symptomatic one… how could he find the motivation to get up every day, knowing what was in store for him? How could he work, live and love in spite of such a Damocles’s sword?

The question grew important to me as the days went by: how can someone find new possibilities and motivation as their share of healthy lifetime was to be cut in such a cruel way?

Eventually, I decided to devote my M.A. thesis to answering that question. How it happened to be and how I made it will be the topic of this post. Continue reading