80% of rare diseases are due to genetic causes, but previously effective diagnostic tools were lacking. However, new genomic technologies have revolutionized the genetic disease diagnostic approach.

However, there are still many undiagnosed patients that are still suffering their diagnostic odyssey. That is because they are unaware that these new analysis solutions for genetic variants exist and because they are not yet easily accessible.

Let us introduce real life stories of rare disease patients whose lives were greatly impacted thanks to Whole Exome Sequencing (WES) based genetic tests.

Mother and female child hugging on a purple couch

Successful Drug Development

A baby from Lebanon first developed symptoms at 18 months which continued to go undiagnosed until the age of two and half years old. They were suspected of having progressive ataxia through neurological examinations and was later diagnosed with cerebellar atrophy and peripheral polyneuropathy through MRI.

Then at the age of four and half scoliosis was found leading to multiple panel tests being conducted. Due to inaccurate diagnosis, the child’s body condition got worse and worse. Finally, at the age of nine years old, a WES based genetic test was performed leading to an accurate diagnosis ending the suffering of this child and their diagnostic odyssey; bringing a happy ending to their story.

The symptoms of the child were not typical, which led to their diagnostic odyssey. It was revealed that it was the first mutation for this disease in Lebanon. Thanks to the genetic tests results which lead to proper diagnoses, appropriate medication and treatment were given to the child improving their way of life. They are now 15 years old, healthy, and enjoying the typical life of a teenager being able to participate in various sports activities.

Quick Diagnosis is Key

A child just 12 months old was fortunate enough to take a genetic test called CES. Thanks to this test a diagnosis was possible before symptoms appear ending their diagnostic odyssey before it even started.

Effective Treatment

An 18-year-old girl had already been diagnosed with ALS. A CES test was performed to identify the genetic variation and mutation of her ALS. The analysis however revealed that she was suffering from AAAS, not ALS. If it had not been for WES, the true illness she was suffering from would never have been discovered preventing appropriate treatment.

Genetic Tests Provide More Than You Think

They provide emotional stability for both patients and their families; giving them the opportunity to connect with support groups of those affected by the rare disease, and also the opportunity to participate in clinical trials for new drugs.

Currently, treatment for only 5% of all rare diseases has been developed. However, even though there is no treatment available, there are countless positive effects on the patient’s life.

In one study, 97 people had a rare disease going through their diagnosis odyssey, thanks to WES testing, seven were correctly diagnosed and received proper treatment.

The other 90 were diagnosed and received better treatment to manage the disease. They also received more accurate information about what was truly causing their diagnostic odyssey, joining support groups for their disease improving their mental health as well.

Finally, they were then able to participate in further research for the rare disease that affected them resulting in receiving treatment to truly end their diagnostic odyssey.

WES-based genetic tests are one of the best ways to improve the lives of patients suffering from a rare disease as they can provide a quick and accurate diagnosis.

Do you want to keep up with the latest post of this series?