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Video Digital Patient Journey Symptom Check Rare Diseases Partner

Rare diseases aren’t actually that rare. In fact, nearly 350 million people worldwide live with a rare disease. There are digital solutions that can help people get the right diagnosis and right treatment faster. With this initiative, we want to get people interested in digital health, raise awareness of those solutions, and improve health literacy globally.

How digital solutions can reduce time to diagnosis

Since rare diseases are hard to identify, it can be difficult to effectively interpret symptoms. Digital tools can help us reach the right diagnosis faster.

Check your symptoms

What is a rare disease?

Globally, there are around 5,000 to 8,000 conditions that are considered rare diseases. The EU defines a disease as rare if they affect fewer than 5 out of every 10,000 people. However, in the big picture, these rare diseases are not rare at all. An estimated four million people in Germany and 350 million people worldwide are living with a rare disease. These diseases are often incurable. Around 80% of them are inherited, meaning they are partly or fully genetically determined. First signs of a rare disease can show themselves during childhood.*

Support from digital solutions

One in three people suffering from a rare disease will initially be misdiagnosed. Even once a correct diagnosis is found, treatment options are limited. Digital solutions can help people understand their symptoms faster and play an important role in helping them access successful treatment.

Important information on rare diseases

350 Mio.

350 million people worldwide live with a rare disease*

4.8 years

It takes an average of 4.8 years to get the right diagnosis.

40%

40% of people suffering from rare diseases are misdiagnosed at first*

*Source: IQVIA

The benefits of digital patient journeys

People with rare diseases share a common experience: A yearlong search for the right diagnosis and limited treatment options.

Digital solutions help doctors and patients alike – before, during, and after an appointment.

They can be applied at any time throughout the patient journey: from booking a doctor’s appointment to treating a condition with a medical app.

Before a doctor’s appointment

Before visiting your doctor, you can use digital solutions to engage with your own health in a structured manner.

Do research on doctors in your area or book an appointment fast and easy over the internet. You can also have video consultation, if a practitioner offers that service.
Prepare everything you want to discuss in advance. Refrain from bringing printouts of your internet research on diagnoses and treatments. Your doctor will want to examine your symptoms on their own. Symptom assessment apps can provide specific questions to help you track your symptoms.

At the doctor’s

When talking to a doctor it is really important to properly communicate your symptoms. The result of a symptom assessment can help you more effectively articulate your symptoms and problems, but it is important to be upfront about using such solutions. Ideally, you should bring a copy of the symptom assessment report with you to the doctor. While it is not designed to provide a direct diagnosis, it can be a valuable source of information for your doctor. And remember, symptom assessment tools can be useful for a wide range of conditions, not just rare diseases.

Electronic patient records help facilitate the coordination of your treatment by giving doctors all the information and context they might need to make informed care decisions, like doctor’s letters or lab results. Consult your health insurer or provider for more information.

You should also explore the possibility of digital therapeutics with your healthcare provider, which could support and enhance your treatment in innovative ways.

For more information, visit https://dtxalliance.org/

After receiving a diagnosis from your physician

You can use a digital diary to record the effectiveness of your treatment and the progression of your condition, so you can communicate effectively and efficiently during your next doctor’s appointment.

Consistent communication with your doctor is important to fully benefit from your treatment. It can be good to book a follow-up appointment immediately after your initial appointment.

If there is a finding that does not require an urgent decision, take your time to consider all treatment options. Get a second opinion or discuss your situation with people you know.

You can access useful information from patient organizations and online communities. These also provide an opportunity to share your experiences and benefit from hearing about the experiences of others, who can offer helpful tips and give you emotional support.

Around 350 million people worldwide are living with a rare disease. These are often genetically determined and cannot be immediately or easily diagnosed. The RDI’s goal is to raise awareness and build trust around digital health solutions that can help people with rare diseases.

Symptom assessments with Ada

“Ada” is a symptom assessment tool that was developed by a team of scientists and doctors.

It asks you detailed questions about your symptoms and, based on your answers, will deduce the possible causes of those symptoms.

For rare diseases, Ada’s symptom assessment can provide patients and doctors with an early warning sign that a rare disease could be the underlying cause for the symptoms.

This web-based application is provided by Ada Health GmbH (“Ada”). Processing of personal data is performed exclusively by Ada in accordance with GDPR guidelines. (See Ada’s data privacy policy here)

“I have a rare disease called Fibrodysplasia Ossificans Progressiva (FOP) and wanted to test whether symptom assessment apps could identify it, and it worked! I, like so many others living with a rare condition, went on a long and complicated journey before I was finally given the correct diagnosis. Now, my hope is that with the help of digital solutions like Ada, undiagnosed patients can avoid misdiagnosis and get the right diagnosis, and the right treatment, quicker."

Nadine Grossman, FOP patient and board member FOP Germany and International Fibrodysplasia Ossificans Progressiva Association IFOPA

“By using artificial intelligence in medicine, we can accelerate and improve diagnoses - especially for rare diseases.”

Dr. Martin Krusche, Deputy Head of Rheumatology Department, University Medical Center Hamburg-Eppendorf, Germany

“With the help of symptom assessment tools, patients can engage with their health in a purposeful manner. Doctors can save time when patients come well-prepared and give specific responses to questions.”

Vanessa Lemarié, Chief Operating Officer at Ada Health

8 rare diseases you should be aware of

FMF

Familial Mediterranean fever, or FMF, is a hereditary, autoinflammatory condition. Typical symptoms include recurring fever spikes and acute inflammation of the stomach, joints, and lung linings. Uncomfortable erythema can also occur.

For more information, visit our partner (source in German): Novartis

Loiasis

Loiasis, also known as African eye worm, is a disease caused by the parasitic loa loa worm.

The worm is transmitted by infected deer fly, native to West and Central Africa, either through a bite or the laying of its larvae.

The condition can cause itchy swelling (known as Calabar swelling).

Adult-onset Still’s Disease (AOSD)

Adult-onset Still’s Disease, or AOSD, is a rare inflammatory condition. Typical symptoms include high fever spikes, salmon-colored rashes, and arthritis. In children and adolescents it is also called systemic juvenile idiopathic arthritis (Systemic JIA).

For more information, visit our partner’s site (source in German):
Novartis

Fabry disease

Fabry disease is a rare metabolic condition where an enzyme called alpha-galactosidase, which is important for catalysing chemical reactions in the human body, is missing, not properly functioning, or deficient.

The condition can cause a build-up of bodily waste and damage tissues and vital organs.

Precocious puberty

Precocious puberty is the premature development of sexual characteristics like testicular growth or mammary gland growth. Precocious puberty occurs in girls under the age of 8 and boys under the age of 9.

Amyloidosis

Amyloidoses are a group of conditions marked by the build-up of a specific proteins that impede the regular functions of organs and tissues in which it occurs.

Idiopathic nephrotic syndrome

Idiopathic nephrotic syndrome (INS) usually occurs in children between the ages of 1 and 10. The condition causes important proteins to be excreted through urine, leading to edemas. Darkly coloured or foamy urine is a common indicator of INS.

Other symptoms include nausea, tiredness, high blood pressure, and susceptibility to infection.