Hello TANGO2 families! Our 27-year-old daughter, Hanna, was diagnosed with TANGO2, in February 2022 and we would like to share our experiences in case you are interested in learning about our 27 years of experience with this condition.
We live in Plymouth, Michigan USA, which is 15-minute drive east of Ann Arbor and 30 minutes west of Detroit.
Hanna is a proud participant in our community’s Special Olympics team, she is a graduate of the Plymouth-Canton community school’s vocational program for cognitively impaired young adults, and, she loves musicals, all things weddings and loves to shop for shoes and clothes.
Summary of Hanna’s symptoms that are consistent with TANGO2: episodes of ataxia/muscle weakness (mostly episodes of difficulty walking and talking) starting at age 20 months; speech/language impairment and cognitive impairment (recognized at age 3); amblyopia (age 4); seizures (age 17); hypothyroidism (age 24); and Whole Genome Sequencing confirmed TANGO2 at age 27 (February 2022).
We discovered her TANGO2 diagnosis finally - and unfortunately - when she was hospitalized with her first metabolic crisis in January 2022 at 27 years old. Although her providers initially did not recognize the metabolic crisis during the first 30 hours of inpatient care, when it escalated to ICU life-threatening level, Biochemical Geneticists became involved in her care and immediately suspected TANGO2. They cheek-swabbed my husband (Hanna’s father) and me (Mom) and took a vial of Hanna’s blood and two weeks later, thanks to whole genome sequencing, TANGO2 was confirmed. Hanna’s Dad and I (Mom) are both carriers – what a surprise!
Hanna has a 23-year old brother who does not have TANGO2 but may be a carrier (he will eventually have WGS to find out if he is a carrier).
So, while the symptoms of TANGO2 are not new to us, the diagnosis is enlightening! Hanna has now recovered from her metabolic crisis in January-February and is now using a mitochondrial cocktail and a slew of medicines (anti-seizure meds, beta blocker, blood thinner and hypothyroid meds). She is keeping well-hydrated, well-nourished and low-stressed. She is healthy for now!
We look forward to participating in the TANGO2 community, and learning and sharing experiences about this rare condition.