International ALS Day: Knowing is strength

It’s time for the EU to rethink its strategy on Lou Gehrig's disease and promote better Europe-wide harmonisation on genetic testing, argues Cyrus Engerer.
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By Cyrus Engerer

Cyrus Engerer (MT, S&D) is a member of the European Parliament’s Environment, Public Health and Food Safety Committee and the Special Committee on Beating Cancer

21 Jun 2021

In May 1939, after a record-setting 2,130 consecutive games, New York Yankees baseball legend Lou Gehrig informed his manager Joe McCarthy that he would have to sit sat out that day's game.

No one knew that the legendary baseball player's physical weakness and clumsiness were not a sign of premature physical deterioration but the early symptoms of a disease that will later be named after him.

Lou Gehrig's disease, also known as Amyotrophic lateral sclerosis (ALS), is a rare, progressive and fatal neurodegenerative disease for which there is currently no cure and only limited treatment possibilities.

More than 15,000 Europeans are diagnosed with ALS each year and the disease is classified into two groups: familial ALS (fALS), which is inherited from a family member and sporadic ALS (sALS), where the person diagnosed has no known family history of the disease.

Recent scientific discoveries have identified more than 25 genes linked to ALS and between 5-10 percent of all cases are associated with a genetic mutation.

"For people living with ALS, and for others with rare diseases, obtaining an accurate and timely diagnosis is fundamental to ensuring access to care, as well as essential social support"

Cases that have a genetic component are referred to as ‘genetic ALS’ and have been identified both in those with a family history of the disease as well as in those without a known family history.

Despite the seriousness of the disease, the lack of awareness of the condition often results in early symptoms being unrecognised and ignored.

Patients often need to consult several clinicians and endure multiple referrals before receiving an accurate diagnosis. This marks a long, complex, and stressful time span in ALS patients' lives.

As the science of ALS advances and hope is given to patients, timely and accurate diagnosis becomes even more essential.

In this context, genetic testing helps reveal gene mutations that can cause ALS, and can provide important information for diagnosis, treatment and prevention.

Genetic testing for all ALS patients may also enable them to enrol in clinical trials or access treatments when they become available, as well as assisting patients with long-term life choices.

Currently, European healthcare systems take very different approaches to genetic testing, and barriers continue to exist for patients to access genetic testing in a timely way.

On International ALS Day (21 June), I believe it is time to rethink our policy strategy for ALS patients and foster harmonisation in Europe on genetic testing.

We can start by ensuring best-practice and information exchange in genetic testing for ALS and other rare diseases across laboratories and Member States, including via the European Reference Networks.

For people living with ALS, and for others with rare diseases, obtaining an accurate and timely diagnosis is fundamental to ensuring access to care, as well as essential social support.

This can impact survival rates and quality of life, especially at a time when new transformative therapies are being approved and potentially bringing new hope for ALS patients.

To mark International ALS Day, let us build on Lou Gehrig's example and advocate with bravery and boldness for people living with the disease. 

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