30 years for a diagnosis

Today is Rare Disease Day. Rare Disease Day was first celebrated in Europe and Canada on 29 February 2008 in order to raise public awareness of the needs of those affected by rare diseases. In occasion of this event, I will tell you the story of Marco…

What is probably the most frustrating of all the difficulties of being affected by a rare disease? Get the right diagnosis.
Common diseases are easily recognized because their symptoms are often well known and well documented. For a rare disease the situation is quite different. Often very little is known about their symptoms and even less about treatments.

For Marco it was literally an odyssey before understanding the real cause of his right arm´s mobility difficulties, “No one had pictured it properly and thus the treatment I was going through was not the right one.”

After 30 years, in 2013, the doctors discovered what the problem was: chronic inflammatory demyelinating polyneuropathy (CIDP).

It is sounds a very complicated name. In order to understand the disease, we need to comprehend the meaning of every word:

  • Chronic: persistent, constant;
  • Inflammatory: involving the activation of the immune system;
  • Demyelinating: the myelin layers, covering the nerves of the neuronal system, are damaged (see Figure);
  • Polyneuropathy: the peripheral nerves, outside the central nervous system (CNS), are injured.

Figure: Difference between a normal neuron (top) and a neuron affected by demyelination (bottom).

This condition can start at any age and is more frequent among men than women. The prevalence of CIDP is considered to be around 5-7 cases per 100,000 individuals.

CIDP appeared in Marco (59 years old) about 30 years ago with both neurologic problems in his right arm and walking difficulties. In particular he had a problem in his left arm with difficulty extending the fingers with loss of strength in the whole arm.

Electromyography is an electrodiagnostic technique which allows evaluating and recording the electrical activity produced by skeletal muscles, and it’s used to detect the electric potential generated by muscle cells when are electrically or neurologically activated. Marco said that “the rudimentary electromyographic examination that could be done at the time showed a slowing of conduction in left elbow.”

Thus he underwent a surgery to “unzip” the ulnar nerve, the nerve which runs along one of the long bones in the forearm. After surgery the symptoms were strongly reduced but the interosseous muscles of his left hand shrunk.

“The diagnosis was the “least bad” among those I expected. I saw it as a ‘positive’ news.”

Patients affected by CIPD progressively become weaker and manifest other symptoms such as: sensory dysfunction of the legs and arms, tingling in toes and fingers, loss of reflexes (areflexia), and fatigue.

The underlying cause of these symptoms is the loss and/or damage of the myelin which wraps around the nerve axon (the long, wire-like part of a nerve cell) like insulation around an electrical wire (see Figure). The nerves extend from the spinal cord to the rest of the body, stimulating muscle contraction and transmitting sensory information back to the nervous system from receptors in the skin and joints. Myelin allows electrical impulses to efficiently travel along the nerve axon.

Damage or removal of myelin causes the loss or deceleration of these electrical impulses, and messages transmitted from the brain are distorted and may never make it to their final destination, the brain. CIDP causes the demyelination as a consequence of the reaction of the immune system against its own myelin of the peripheral nerves (autoantibodies) (see Figure, bottom).  

More recently, 10-12 years ago, the same problems that Marco had at to the left arm, appared on his right one, with identical consequences, and leading to the same surgery. But in 2013, the most extended and significant neurologic episode occurred. As a result, he took a series of exams which highlighted a number of problems in the cervical spinal canal suggesting the compression of the nerves of the arm.

It seemed there was only one thing to do: a major surgical procedure to remove multiple cervical hernias. However  “despite 3 surgeons having confirmed the evaluation and the need for intervention, at the last visit, one of the surgeons recognized a different etiology” said Marco.

The surgery was thus cancelled and Marco was sent to a neurologist specialized in this area. “The neurologist gave me the diagnosis: chronic inflammatory demyelinating polyneuropathy (CIDP). I started the treatment that currently requires infusion of immunoglobulin every 8 weeks.”

Intravenous immunoglobulin, or IVIg, involves administration of immunoglobulin (antibodies) obtained from the plasma of a thousand or more blood donors. The mechanism of IVIg is not yet precisely known but is thought to be related to modulation of pathogenic autoantibodies.

Given that Marco has a scientific background and works for a large pharmaceutical company based in Parma, Italy, for him it was actually easier to understand the diagnosis, the prescribed drugs, and the cures.

“The diagnosis was the “least bad” among those I expected: heavy surgery, SLA, etc. I saw it as a ‘positive’ news.” However, he realized that living with CIDP could also be very challenging, “but I’ve been quite lucky because seeing others with the same disease, I realized that mine is a rather mild form, slowly evolving, maybe stopping with the therapy, and without significantly disabling impairments.”

If untreated, 30% of patients affected by CIDP will progress to wheelchair dependence. Early recognition and appropriate treatment can avoid a significant impact on the body and thus disability.

“The therapy fortunately is reimbursable, otherwise I do not think I could pay for it with my resources.”

Only after the diagnosis, Marco finally managed to start targeted searches. “I have a very critical attitude towards the doctors, but I recognized that they were moving in line with my assessments of treatment opportunities. I stopped studying and researching and I’m confident about what the doctors are doing, especially because, all in all, I do live a normal life, without significant limitations, and I do not need to change the situation”.

Apart from the acute period and some minor functional limitation, Marco’s life has not changed much. He can also do physical activity that requires significant physical effort without major problems.

The only thought of Marco is that “there is always the fear of a relapse”.

Erica F.

Figure adapted from: <a href=’http://www.123rf.com/profile_hfsimaging’>hfsimaging / 123RF Stock Photo</a>

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. Since November 2017 I live and owrk in Munich. Since November 2016, I collaborate with CheckOrphan .

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



I don’t need a diet, I need a cure.

by Erica Fiorini

People look at you in a weird way thinking probably “why she doesn’t go on a diet? Why  doesn’t she go to the gym?”… But they’re wrong.

Obesity and lipedema, or lipoedema, are often confused. Obesity is caused by overweight: excessive food energy intake and a lack of physical activity; however lipedema is unresponsive to weight loss through diet and sport. Very similar is another condition, called lymphedema, which, instead, is characterized by localized swelling caused by the dysfunction of the lymphatic system, and is a more common condition than lipedema.

I interviewed Luna, who just discovered to be affected by lipedema. She was 32 years old when everything started with pain in the legs. After some exams, the doctor diagnosed lipedema. Since “there is no concrete therapy there is not much that I can do. I just get sympathy from my friends and family”.

“Rare is an excuse to dismiss it.”Tatjana

Lipedema is a rare disease characterized by bilateral enlargements of legs and ankles due to unusual accumulation of subcutaneous fat (see Figure). This condition is also associated with hematoma and pain and for this reason is also been called “painful fat syndrome.”

“Women are not aware of it. It is usually diagnosed as obesity.”,  Luna said. She is right.

This condition, is often characterized by family history and mostly women are affected: 11% of the post-pubertal female population, circa 17 million women in the US, and 370 million women worldwide. Cases of men lipedema are extremely rare; only: 7 known cases from literature.


Figure: The four stages of lipedema (image from lipedemaproject.org)

The doctor supported Luna by giving her some literature. However, information is limited because the origin of the disease is unknown. What is clear is the influence of hormones and the connection between estrogen and progesterone hormonal influence.

Lipedema has a propensity to be triggered and worsen during hormonal shifts (puberty, pregnancy, postpartum, and menopause). Increased levels of cortisol, which cause an inflammatory cascade, are also consequences to a very stressful situation (death in the family or divorce) which might initiate, thus, the onset of the disease. Lipedema is also misdiagnosed as a simple weight gain.

Also the few reported cases of male lipedema were characterized by hormonal shifts and in particular, by low testosterone level.

Lipedema can be very frustrating from a psychological point of view. People with this condition often undergo different problems ranging from lack of self-confidence to real depression and anxiety because of their appearance and lack of understanding of the disease.

Unfortunately there is not a definitive treatment for lipedema, but a number of existing therapies may be useful in managing symptoms: healthy diet, activity and compression therapy.

“I reduced drinking alcohol because that makes me eat much more and in uncontrollable matter” Luna said. Furthermore she wears compression stockings every day.

While surfing the internet looking for information about lipedema, I found Tatjana, who wrote a book about lipedema (Help Hope Healing). She also has a blog where four women with lipedema contribute to the blog describing this condition both from a personal and scientific perspective, also citing scientific literature.

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 have been collaborating with CheckOrphan since November 2016.

If you would like to tell me your experience and help other people, please write me at rare.diseases@checkorphan.org.


Disorder: The Rare Film Festival

“You May Never Be More Moved at the Movies”

Disorder: The Rare Disease Film Festival is to be held in Boston in October. The festival is a new event with films from around the world that will feature the challenges of daily life while living with a rare disease. Many, though not all, of the films are documentaries. The filmmakers in attendance will have a question and answer session with the audience following the presentation of their films. In addition, rare disease researchers and patient advocates will also share their experiences.

Rare diseases pose a significant medical and economic burden for patients, their caregivers, their communities, and their healthcare systems. Although there are  an estimated 7,000 known rare diseases, that number does not reflect the countless number of family members, caregivers, and friends who watch a loved one struggle with health challenges. The challenges arise from lack of effective, or known, medication, lack of knowledge, lack of funding, lack of research. Disorder: The Rare Disease Film Festival hopes to change that by providing awareness of the challenges that the sufferers of rare diseases face.

The total number of Americans living with a rare disease is estimated to be between 25 and 30 million. This estimate shows that while an individual disease may be rare, the total number of people dealing with a rare disease is actually quite considerable. They are your friends, neighbors, family members, and co-workers and you might not know the daily obstacles they must manage.

Disorder: the Rare Disease Film Festival hopes to personalize the struggles of sufferers rare diseases by showing real people who face real adversity. It is the brainchild of two dads who have  children who face their own challenges and obstacles because of a rare disease. Bo Bigelow is the founder of MaineRare, and took to social media to help find a diagnosis for his daughter’s rare genetic disorder. Daniel Defabio has written about and has produced a documentary on Menkes Syndrome. Together, they aspire to bring awareness to rare disease by showcasing those who are faced with difficulties.

Disorder: the Rare Disease Film Festival hopes to increase awareness and provide a face for rare diseases. As we move together into the future, it is this awareness that will help spur new research and finding new medicines and new treatments. For more information on the festival, visit their website at:



What You Can Do For Rare Disease Day


February 28 is Rare Disease Day. This year’s theme is With research, possibilities are limitless.” This is true, but, unfortunately, research is also expensive and difficult. What can we do to help cure rare diseases?

Consider the Possibility

Imagine if you or a loved one had a disease where information about it was rare and hard to come by. Where your doctor was just as bewildered as you are. It’s a frustrating position to be in, but most people don’t think it will happen to them—after all, rare diseases are (by definition) rare.

While you have a minuscule chance of contracting any single rare disease, there are so many rare diseases that your chances of being affected by at least one is pretty high. 30 million people in Europe have at least one rare disease.

If you have been diagnosed with a rare disease, you know how frustrating getting information can be. If you just have an undiagnosed problem, that is stumping your physicians, it can be even worse. You understand that the unthinkable can and does happen to you and people you love. So, what can you do to help fight rare diseases?

Share Information

If you have a rare disease diagnosis, share what information you have about your disease and its treatment. For many rare diseases, a standard treatment protocol doesn’t exist. So, let people know what works for you and, importantly, what doesn’t work for you. People often are happy to share successes but not failures. However, the failures are just as important—they allow other people to skip the steps you went through.

Encourage (and Allow) Your Doctor to Share Information

Privacy laws vary from country to country and your doctors won’t violate those laws by talking about you specifically, unless you give them permission to do so. Why is this important? Because while they can talk about Patient X, a 35-year-old female with Sabinas Brittle Hair Syndrom, it’s a lot more influential if your doctor can give a presentation and talk about your specifics. Why? Because then you are a real person. A human being with feelings and a family and struggles related to real life and your disease.

Donate Money and Time

Most of us aren’t sitting on piles of cash, but if you are, consider giving some of that cash to help with rare disease research. Because each disease is rare, there isn’t enough money to go around to research each one. If you aren’t sitting on a pile of cash, you can still contribute what you can, or contribute something else valuable—your time.

How can you help if you’re not a doctor or a scientist? Well, you can help raise funds. You can share your experiences with your disease.You can help a friend who is suffering from a difficult condition. Something as simple as offering someone a ride to the doctor, or sitting in and taking notes while your friend talks with her doctor can be an invaluable help.

Contact Your Elected Officials

Politicians are all about being re-elected. They care about what their constituents care about. So, make sure they know about rare diseases. Pharmaceutical companies are happy to spend money researching treatments for common ailments because they know that if they find a successful drug they will earn back their investment, and more. But a rare disease treatment costs just as much to research without the added benefit of a high return on investment. Therefore, rare disease research often needs help from governments and charities.Let your government know that your disease affects someone in her area. It might help.

Rare diseases touch just about everyone’s lives.  Let the search for cures touch everyone’s lives as well.


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). 


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


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.


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.