In 2022, only around 63 cases of ECHS1, an ultra-rare metabolic disorder, were reported around the globe. A study published in the Annals of Clinical and Translational Neurology in 2015 reported on the features associated with ECHS1 deficiency: encephalopathy (any condition that alters brain function/structure), deafness, epilepsy, cardiomyopathy, and optic atrophy. Some research has found that ECHS1 presents in a similar way to Leigh syndrome, a rare mitochondrial disorder. 

Karigan and Kooper’s Story

So when Karigan Bastron (9) and her brother Kooper (8) were diagnosed with ECHS1, their mother Brooke was shocked. The disorder is not just under-researched at this point, but lacks any type of cure. Brooke didn’t know what this meant for her children or their future. But the family decided to jump into action. Brooke acquired a wheelchair to assist Kooper with mobility; because he has frequent episodes of dystonia, he sometimes needs additional help. Other times, Kooper just deals with arm or hand numbness. When he’s not walking or in a wheelchair, Kooper likes to ask for piggyback rides; he finds them comforting! Since both children also have hearing loss, with Karigan’s leaning towards deafness, the family also works to find appropriate hearing aids for the children. 

In part, having ECHS1 has made it more difficult for the children to live their daily lives. But Brooke keeps a positive attitude and encourages her children to do the same. Even though they may face more obstacles than some others, Brooke wants her children to know that they can achieve anything they set their minds to. For example, Kooper loves playing sports. While he sometimes has to sit out, especially when he’s feeling more fatigued or his symptoms are worse, he dives in whenever he can! He absolutely adores basketball but is also a member of a traveling baseball team. Go Kooper! 

Currently, the family is working to raise funds to travel from Iowa to Philadelphia, PA to visit a specialist and hopefully gain access to new or investigational treatments. Of course, as many families within the rare disease community know, this can come alongside undue financial burden. 

But in this case, the community has jumped in to help! A family friend named Brenda Jennings organized a fundraiser called “Ride for Hope.” Starting at RJ Performance, riders will travel to seven different participating bars. After a six hour journey, riders will come back to RJ Performance for a raffle drawing and auction.