It’s A Marathon, Not A Sprint – Why Is This Ultra Rare Disease So Difficult to Diagnose?

We Talk to Doctor and GNEM Patient Suleyman Kus, about His Journey to Diagnosis, and What the Medical Community Can Do Better.

Doctor Suleyman Kus of Antakya, Turkey, endured twelve years of searching and misdiagnoses, before receiving an accurate diagnosis of GNE Myopathy, an ultra-rare genetic disease that progressively deteriorates the body’s muscle tissue. Kus was symptomatic of GNE Myopathy during all twelve years that he sought a diagnosis. His experience is not uncommon among patients of the condition. Many people living with GNEM tolerate years of uncertainty, before they receive a clear diagnosis.

In today’s world of modern medicine and the internet, this seems incomprehensible. How has the medical community remained unfamiliar with rare diseases, despite the growing numbers of patients, and ever-increasing research published?

GNEM is a progressive condition which typically makes itself known in a patient’s twenties. Like others, Suleyman grew up blissfully unaware of the mutation in the gene that would later wreak havoc on his day-to-day activities. It wasn’t until he was working as a Physician’s Assistant, that he noticed his movements slowing. Kus, a medical professional, had privileged access to other Doctors and amenities at the hospital where he worked. Yet, his condition was initially misunderstood. “I decided to see a neurologist friend of mine,” he recalls. After many tests, he received a tentative diagnosis of Peripheral Neuropathy.

Kus now understands that the difficulty to diagnose his GNEM was due to the nature of the disease itself. “On an average of every six months, I would suddenly have difficulty doing some activity that I had been comfortable doing before”. GNEM progresses gradually. When you compound the emotional toll of GNEM, with patients suffering the uncertainty of its cause, you start to understand what GNEM patients are up against.

It was twelve years after Suleyman first recognized early indicators, that he finally received answers, after his sister was tested at a different hospital for symptoms he’d been living with for years. “I clearly remember the moment when I first saw my genetic test results,” he says.

For Suleyman, his diagnosis was a starting point. It was the point at which he could take the reins, and start learning about his condition. He followed scientific experts. He was encouraged by many experts who were working to find a treatment for GNEM.

In 2017, Suleyman attended the NDF Symposium in Los Angeles, where he heard renowned experts speak. “At an NDF patient ceremony, I became a Certified Patient Advocate. I decided to organize the first GNE Myopathy Patient Day in Istanbul, Turkey in May 2018”. Suleyman also started a Facebook group, helping GNEM patients to connect, and learn about their condition. Today, Suleyman continues to work as a doctor, with the full support of his wife Meral. “GNE Myopathy has taught me to be more patient and to live with empathy. I am reminded of the urgency of the choice to be happy and to be happy now, and in each moment as I go through this process”.

Recently, we asked Suleyman about what changes the medical community can make to benefit patients of rare diseases like GNEM.

As a doctor, what do you think can/should be done to support better and quicker diagnosis of rare diseases such as GNEM?

There should be specific neuromuscular disease clinics and experienced health staff in every city.A patient shouldn’t need to travel for medical care,with the added challenge of a physical disability.

If the doctor is treating a patient who’s presenting with neuromuscular disease, and suspects that the condition is genetic, they should request WES (Whole exome sequencing) right away. With ultra-rare diseases like GNEM, time is wasted by running partial genetic testing panels. The initial testing should be comprehensive.

If you could speak to the global medical community, as a GNEM patient (not as a doctor), what would you like to tell them?

Please raise your empathy. A Myopathy patient deserves to know the name of his/her exact type of Myopathy. That knowledge will empower them to learn more about their specific condition, without getting buried under all of the research on the other 600+ types of Myopathy.

A lot of patient organizations nowadays are producing events that have great value to patients. While I do understand the need for patient privacy, I also believe that patients need to be able to findandconnectwitheachother.Andtheseorganizationalevents,liketheonesthatNDFhosts, can be an ideal tool for making useful connections. I encourage doctors to share any information about supportive patient organizations like NDF with their patients. In the online patient meetings that host, we share knowledge, experiences, and we allow time for patients to ask questions, so that they can become better informed.

Is there something that really supports you in your life as a GNEM patient? A person, a tool, a program,etc.?

Of course, first of all, my wife Meral, my family, and my friends. I appreciate them all. Even beyond immediate family, there are very good people in the world. After I’d learnt of my GNEM diagnosis, I connected with Tara Voogel, a GNEM patient who lives in California. Tara has had an important effect on my life. Because of the ways that Tara helped me cope with my own GNEM diagnosis, I truly understand how patients can be of help and support to one another.

The internet is also a critical tool. In my own city, I only know of my own sister as another local GNEM patient [besides myself]. Online, I can meet people and connect with other patients from around the world. I can’t imagine what it must have been like for GNEM patients before the introduction of the web, to spend their lives with an ultra-rare disease, but never even know its name, or communicate with other patients.

The Neuromuscular Disease Foundation (NDF) in Los Angeles, California is a global non-profit organization, and world’s largest fundraiser for research, education, and patient programs in service of GNEM patients worldwide. Patients like Suleyman speak around the world to raise public awareness about GNEM. In 2021, the NDF announced its International Gene Therapy Development Program (IGTDP), a collaborative effort bringing experts from around the world together, to contribute to an NDF-led submission of a pre-IND (Investigational New Drug) package, to the FDA. The NDF hosts its largest fundraiser, an annual Gala, each Spring in Los Angeles. This year, funds raised by the Gala will benefit GNEM patients through support of the IGTDP and patient programming. If you would like to donate to the NDF to support programs like those attended by Suleyman Kus, or to fund the research that will put an end to GNEM, please visit: https://curegnem.org.

By Dana Corddry