Unraveling the Rare Genetic Disease That Haunts a Family

 

Hogan Teem was a healthy seventeen year old. He had a girlfriend and he spent his summers mowing lawns in his North Carolina hometown. Hogan played football, baseball, and golf. He took mission trips and had never even missed a day of school, so the events that caused his death were completely unforeseeable and unexpected.

At baseball practice on December 13th, Hogan was practicing when he stumbled over to his coach telling him, “I don’t feel right,” just before slumping to the ground. The ambulance quickly arrived on scene as well as his parents who rode in the ambulance with him. His heartbeat was faint and was even lost once on the ride to the ER but was recovered.

After 45 minutes at the emergency room however, there was nothing the staff could do for him and he passed away. Hogan had died from an acute cardiac event, which was caused by a previously undiagnosed rare genetic condition, which is called arrhythmogenic right ventricular cardiomyopathy or ARVC. No one knew that he had this rare disease and it is not commonly tested for. Hogan’s death was truly unpredictable and a complete shock to everyone.

The story does not end here however because Hogan was actually adopted and had three full siblings by his biological parents. After his death, Hogan’s mother reached out to this birth mother to warn her of the rare genetic disease. After nine months, Hogan’s two brothers and one sister had cardiac imaging to check for signs of ARVC.

The tests were negative for any disease. Everyone was relieved.

Four years after this, the youngest brother, Ethan White, suddenly started having chest pain while playing basketball. After being rushed to the hospital with a heart rate of 263 beats per minute, he was able to be stabilized. Doctors realized that his cardiac event was related to the ARVC even though all tests has been normal. Ethan’s brother Austin also had an MRI scan that revealed a positive diagnosis for ARVC.

How could all three brothers have the same condition even when tests had previously come back normal?

When local medical personnel were completely stumped, they sent the two brothers to the Undiagnosed Disease Network (UDN) location in North Carolina Duke. UDN is made of 12 research hubs that are specifically made to identify undiagnosed and misdiagnosed conditions and rare diseases. The organization consists of experts in the fields of cardiology, immunology, neurology, genetics, endocrinology and more and their mission is to help patients find answers. Rare diseases are classified as those that less than 200,000 people in the US have; an ultra-rare disease is less than 2,000 people. These diseases are hard to diagnose due to their rarity but the UDN has been able to find and release publications on several new disease genes like NACCI and IRF2BPL.

Patients who come to the UDN come mostly from the US and the diagnosis rate is 30 percent. The team thus far have been busy monitoring the brothers’ hearts, conducting tests, and narrowing down the genes that may be responsible for the brother’s cardiac issues. They are using animal testing and conducting trials and tests on zebrafish models. They are confident they are going to be able to provide a genetic diagnosis and are narrowing down their final answer. Researchers at the UDN hope to publish research on this gene in early 2020, but until then the specific gene is confidential. They hope to find others like these brothers who have the rare disease and create medicine for it. Although these accomplishments may not happen in time to drastically change the lives of the brothers, they are happy to be an integral part of the process for saving others.

Read more about the brothers’ experiences and others who have struggled with undiagnosed conditions here.


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