The diagnostic odyssey of ultra-rare diseases: a patient’s perspective
Juulia Simonen · Jan 29, 2019 · Photo: Heidi Strengell

In 1998, Satu Salonen retired from her position as the head of an IT company and began her diagnostic odyssey. It took over five years to find a treatment that helps her cope with her own rare disease. She is now the president of the Finnish Association for Ultra Rare Diseases.

“Since 2007, I was diagnosed with Autoimmune Encephalitis. I was considered an ultra-rare, one in a million patient. But as diagnostic testing improves, more patients are identified. These diseases have always existed, now we just have a name for them as we understand more about them and their genetic cause,” Salonen said.

For Salonen, her diagnostic odyssey still continues, as her symptoms have taken a turn for the worse and the diagnosis is again unconfirmed.

A never-ending road of symptoms and misdiagnoses

The beginning of the diagnostic odyssey for a patient with a rare disease can be confusing and chaotic. For a clinician, selecting a treatment path for a patient with a complicated or non-specific presentation can be difficult or impossible. Most often, patients with an ultra-rare disease consult a number of doctors, often receiving many misdiagnoses and differing opinions, before the correct diagnosis is finally made.

“For 10 years, I was diagnosed with multiple sclerosis (MS) until it was changed to Autoimmune Encephalitis. I am still hoping to get genetic testing done to confirm my diagnosis,” Salonen said.

“It resembles a chaotic loop. When the symptoms begin, it can be hard to convince your doctor that there is something physically wrong with you. If you do get referred to a specialist, and they can’t find anything, all too often you go back to square one,” Salonen described.

At the doctor’s office: “Where you live might make a difference”

Salonen points out that while genetic testing might be readily accessible in bigger centres with university hospitals, genetic testing may be much harder to come by in remote cities and smaller towns.

“Geographically, the patients may be at a disadvantage depending on where they live. The ultra-rare diseases are such that the clinician in a remote city or small town might never have come across one before.”

The Finnish Association for Ultra Rare Diseases aims to raise awareness about genetic testing for ultra-rare diseases. According to Salonen, patients with ultra-rare diseases are often proactive and work tirelessly to speed up the diagnostic process by seeking access to genetic testing.

Salonen has been helping to empower patients and arm them with the questions they need to ask when meeting with their doctor. She recommends that patients with a rare disease come to appointments with their doctors fully prepared, especially if the doctor is new to them and their medical history.

“I have a list of my prescribed medication with me to save precious time during the appointment.”

She also comes prepared with a short speech where she describes her symptoms, which are often vague and non-specific, to her doctor. Like many patients with rare disease, she has become an expert in her own disease.

“Non-specific symptoms that are hard to quantify or aren’t outwardly visible can make it difficult for the patient to be taken seriously. For example, many patients presenting with neurological disorders are referred for psychiatric evaluation. Being well prepared for my doctors’ appointment reduces the risk of being misunderstood.”

Barriers along the way: When you don’t get referred for genetic testing

The path to diagnosis is often long and, at times, expensive.

“In Finland, a bottleneck from the patient’s perspective is getting referred to clinical genetics for a diagnosis and a discussion about genetic testing”, Salonen begins. Many patients who are not able to have genetic testing ordered by a healthcare professional instead turn to direct to consumer (DTC) genetic testing.

“Some people resort to Black Friday specials for getting (DTC) genetic testing done. This is an extremely worrisome trend. Patients who are desperate for a diagnosis are left alone with a complicated genetic report,” Salonen said.

For a patient, it may be difficult to adequately evaluate the testing laboratory’s qualifications and understand whether the test they are buying is in fact testing for their medical condition.

Many DTC genetic tests look only for the common genetic causes of disease and a normal result may leave the patient feeling falsely reassured if their test result is normal. Further, there is some evidence that a significant proportion of DTC genetic test results are false positives; when the patient has the test confirmed in a clinical laboratory, they learn that the DTC genetic test result was incorrect. It is therefore always recommended that if a DTC result is positive, that it be followed up with testing in a clinical, accredited laboratory.

According to Salonen, genetic counseling is a much-needed addition to help both patients and healthcare professionals understand genetic disorders, what the test results will mean for the patient and the patient’s family members, the limitations of genetic testing, what treatment options are available and possible peer support.

Getting the diagnosis – “A major relief even if treatment is not available”

“After years of uncertainty and a wide range of experiences from tests, evaluations, remissions, relapse, disbelief and anxiety, receiving a diagnosis can feel like winning the lottery. Even if a treatment is not available, finally getting your suspicions confirmed is a major relief. You finally have some answers and, importantly, access to peer support,” Salonen began.

When Salonen got in touch with another person with Autoimmune Encephalitis, she describes it as a life-changing experience.

“I could let go a lot of the loneliness I had been feeling for over a decade. Sharing my experiences from my own diagnostic odyssey made me feel understood.”

Peer support and staying up-to-date with your condition

“In a smaller country like Finland, the ultra-rare disease community is made up of a small group of people. In the United States, almost every disease has an advocacy group of its own. For that reason, the work and networking we do is often international,” Salonen described.

“When an interesting article is published in Lancet, a good summary often follows on the private Facebook ultra-rare patient groups within a week,” Salonen continued.

Salonen would like to see patient advocacies becoming a more collaborative part of the healthcare system.

“We are still seen as recreational and welfare activities. Our association’s goal is to bring improvement items to the public discussion. Working together with healthcare professionals is the ultimate goal.”

Satu Salonen is an active blogger, speaker and the author of four books, three of which focus on the patient perspective in healthcare. The books were published by The Finnish Medical Society Duodecim, a society providing reliable and easy-to-use medical information for health care professionals as well as for the general public.



Last modified: October 29, 2020