Throughout the last month or so, Chelsea’s Hope and Lafora disease have been in the news quite a few times. Keep reading to learn about and find links to each one!

Articles

Rare Classroom: Lafora Disease

Patient Worthy
James Moore
July 28, 2023

In Patient Worthy’s new series about rare disease education, James Moore details Lafora disease in easy-to-understand bullet points. Without a doubt, it is a wonderful resource for learning the basic information and impact of Lafora.

Childhood Dementia: Fighting The Rare Documentary – Lafora Disease

Dementia Alliance International
Niki Markou
July 20, 2023

Dementia Alliance International helps to spread the word of Fighting The Rare, including a brief summary of Niki Markou (A.K.A. our Director of Family Support) and Angelina’s experiences with Lafora.

Lafora Disease: The Stories of Robin and Angelina

Eurordis
July 2023

Featured in this article are two Lafora disease patients: Angelina and Robin. In essence, their mothers, Niki Markou and Veronique Gadomski (from France Lafora), tell their stories. While there are similarities between their experiences, it is evident that each Lafora patient and their family has their own unique stories – each and everyone worth learning about!

Fighting The Rare: Documentary Spotlights Lafora Disease Research

Patient Worthy
James Moore
August 4, 2023

Our partner, Patient Worthy, gives readers a list of the international scientists that took part in Fighting The Rare, accompanied by a brief explanation of Lafora Disease.

Videos

Fighting The Rare: Lafora Disease Documentary

CheckRare
June 22, 2023

With their spotlight on Fighting The Rare, CheckRare (a rare disease organization) gives an explanation in scientific terms of what causes Lafora disease. Additionally, this article includes a video of Niki Markou and Jordi Duran (Ph.D., Associate Professor at Institut Químic de Sarrià in Barcelona) talking through their roles and aspirations during the creation of Fighting The Rare.

Lafora Disease Explained

CheckRare
June 23, 2023

In CheckRare’s second Lafora disease-focused article in June, they delve into the common symptoms of Lafora, and hypothesize about a possible treatment. Also highlighted in this article is a Youtube video of Niki Markou and Jordi Duran discussing Lafora disease symptoms and pathophysiology.

Podcast

Lafora Disease Experts on Clinical Trials, Challenges Funding Rare Disease Research | VibeCast Ep 19

Vibe Bio
Hosted by Ray Dogum with guest Niki Markou
July 13, 2023

If you’re looking for something to listen to regarding news on Lafora disease, you can check out the latest VibeCast featuring Niki and Dr. Duran! Host Ray Dogum from Vibe Bio asks about Lafora disease, living with symptoms, research, hope for treatments, and the recent Fighting the Rare documentary. It is out now on Youtube and Spotify.

FAQs about Probably Genetic’s no-cost genetic testing program for pediatric epilepsy

Who is Probably Genetic?

Probably Genetic is a group of patients, geneticists, and engineers that seek to make genetic testing more accessible to rare disease patients. Their team partners with patient advocacy groups, such as Chelsea’s Hope, and biotech companies to launch no-cost genetic testing programs to end the diagnostic odyssey.

Probably Genetic allows caregivers of pediatric epilepsy patients to access a genetic testing option from the comfort of their homes. Their process eliminates the need to find the right specialist and is free of charge to the patient. Also, their approach empowers the individual and provides an easy way to get the answers you’ve been looking for.

What is Probably Genetic’s program?

Probably Genetic has launched a genetic testing program specifically for individuals experiencing seizure or developmental delay-related disorders. It was designed with a highly sensitive approach and was built in collaboration with communities of affected individuals and their care partners.

You will receive a saliva kit in the mail with a return label to send the equipment back or picked up from your home by USPS if you’re eligible. Once analyzed, all pathogenic, likely pathogenic, and variants of uncertain significance associated with the patient’s documented symptoms are reported, even if the mutations found aren’t related to a seizure disorder like Lafora disease. The entire process is free for families. We encourage caregivers to submit to the program for their loved one, too.

Please note: Testing is available only in the United States. 

How do patients apply?

Complete a brief, patient and family-friendly online symptom checker to see if you’re eligible. Individuals who qualify for no-cost testing based on their submission are notified via email. Afterward, a testing kit is sent to their home address. The test only requires a saliva sample, which is returned to the lab using a prepaid shipping box for convenience. Our support team can also schedule a USPS pick-up time for you. We encourage caregivers to submit and collect samples for their loved ones.

What happens to the results?

Probably Genetic is the custodian of all patient data submitted through their programs, meaning they never share identifiable patient information with third parties without consent. They follow strict HIPAA guidelines and their entire testing pipeline is CLIA and CAP accredited. They completely de-identify any data or learnings from the program before sharing them with any third party, meaning that it is impossible to identify the source of the submission. You can access all your information via a unique patient portal, where you can also opt for your sequencing results to be given to your physicians. Results are only shared with physicians if patients explicitly request for this to happen.

Is this a clinical trial?

The no-cost testing program is not a clinical trial. Probably Genetic does not test therapies or interventions. They also do not conduct research. However, de-identified information generated by the programs can help advocacy groups and biotech companies better understand the patient experience for those living with rare and ultra-rare conditions. Examples include insights on the average wait for a diagnosis or the average symptom profile for a given condition. Families can further rare disease knowledge and potentially discover the cause of their loved one’s symptoms by participating in this program.

“Receiving a confirmed diagnosis has been an immense help and has altered the entire trajectory of my medical care. Everything we do at Probably Genetic is in the hope of offering that opportunity to someone else,” shared Cheyanne, Probably Genetic’s Community Manager and a rare disease patient herself.

How can I determine my child’s eligibility?

Complete the Probably Genetic Symptom Checker for Pediatric Seizure Conditions!

You can also refer to our announcement about our partnership with Probably Genetic. Also, you might find answers on their FAQs page.