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.
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.
If you’d like to support the Estopinan’s efforts to shed light on TK2, information on giving to Columbia Medical Center can be found here.
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
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