A mother knows best. In Kaitlyn Fryar’s case, her intuition about her son Hudson led her to pursue help from numerous doctors. According to CBS Pittsburgh, Hudson seemed to be a happy, healthy, and bubbly infant for the first few months of his life. But Kaitlyn was concerned when Hudson seemed unusually sleepy or fatigued, or when he wasn’t meeting expected milestones. Unfortunately, Hudson passed away at five months old. Doctors believed it to be sudden infant death syndrome (SIDS), but once again, Kaitlyn’s intuition told her otherwise. She continued pursuing genomic testing and eventually received an answer: TANGO2.

At the time of diagnosis, the Fryar family was expecting their third child, a son named Cole. Kaitlyn underwent genetic amniocentesis and learned that Cole would also be born with TANGo2. The family pursued care at UPMC, but UPMC had never before seen or cared for a child living with TANGO2.

UPMC took this as an opportunity to learn. They provided $10K in research funding. Although more research is needed in the future, UPMC’s research has offered more insight into this disease.

Moving forward, Kaitlyn and other parents, like Cesar Martinez, whose son John has TANGO2, feel hopeful that research will provide them with more answers: not just about the disease itself, but potential treatments and cures. Right now, some research suggests that vitamin supplementation can benefit patients. Additionally, frequent meals can prevent metabolic crises, one of the characteristic symptoms of this disease.

What is TANGO2?

TANGO2-related metabolic encephalopathy and arrhythmias (TANGO2 or TANGO2-related disease) was first identified in 2016, with an estimated 30 global cases reported since. This ultra-rare genetic condition results from TANGO2 gene mutations. Doctors and researchers understand that these gene mutations cause issues with the TANGO2 protein. However, they are not sure exactly what this protein does or why it leads to this condition. While there is still much to learn about TANGO2, we know that potential symptoms may vary significantly from person-to-person.

TANGO2 Symptoms

Metabolic crisis may be triggered by illness, stress, dehydration, or failure to eat for a long period of time. During metabolic crisis, those affected may experience:

• Muscle weakness
• Disorientation
• Developmental delays/regression
• Dark brown urine
• Fatigue
• Muscle pain and weakness
• Rhabdomyolysis (the breakdown of muscle tissue)
• Impaired coordination
• Hypothyroidism
• Low blood sugar
• Unconsciousness
• Kidney damage
• Cardiac arrhythmias that may lead to cardiomyopathy

Outside of metabolic crises, symptoms may include:

• Developmental delays and regression
• Seizures
• Speech and language difficulties
• Clumsiness
• Intellectual disability
• Dry skin
• Constipation
• Sporadic head tilting
• Hearing loss
• Unsteady gait
• Unintentional weight gain
• Muscle tightness and spasticity
• Issues with speech
• Difficulty swallowing

This is not an exhaustive list of symptoms. As we learn more about TANGO2, we will also develop a better understanding of its characteristics. There is no cure for TANGO2 and, currently, no standards-of-care. If your child has TANGO2, it is important to put together a multispecialty care team including cardiac and metabolic care.