Art Estopinan: A Child With A Rare Disease

Rare Disease TK2
Rare Disease
A rare disease changed the lives of Art Estopinan and his wife Olga when they welcomed a baby boy into their world. Arturo, Jr. looked like any other sweet infant. He laughed, he cried, he grew. But it soon became apparent that something wasn’t right.

After much trial and error, Art Jr. would be diagnosed with TK2 or mitochondrial DNA depletion syndrome, an exceedingly rare disease, which causes progressive muscle weakness. Motor skills such as standing, walking, eating, talking, vision and breathing can be effected. Research at Columbia University MedicalCenter was the first glimmer of hope for the family.


Estopinan at the aquarium

Raising A Child With A Rare Disease


The impact of this rare disease diagnosis has changed their lives. Olga stopped working to become a full time mom and caregiver to her son. The family sold their home to move closer to doctors at Johns Hopkins who, in coordination with Columbia in New York, provided medical care to Art Jr. And both parents dedicated their time and resources to finding treatment and perhaps a cure for their son.

In their quest for answers, the Estopinans found that they were not alone. Other cases of TK2 were being diagnosed around the world. Global connections were formed with families here and abroad, looking for answers to an incurable childhood disease.

This podcast was originally recorded in 2020. Since then, Auturo has celebrated another birthday, and in spite of living with a rare disease, is thriving. 

Bump In The Road:  Art Estopinan on Life, Hope and Living With Rare Disease

Bump in the Road

Everyone hits a bump in the road. The question becomes: What do you do with it?

I share stories about how people experience, manage and navigate life's bumps, hopefully using them as a pivot into a more conscious and meaningful life.