Ariana Boswell

Ariana Boswell received her bachelor's degree in biochemistry from Vassar College and is currently pursuing her Master of Public Health in epidemiology at Columbia University Mailman School of Public Health. She has previously conducted research on rare and chronic diseases at Vassar College and Yale School of Medicine and hopes to remain involved in rare disease research and communications in the future. Ariana joined Rare Disease Advisor in 2024.

All articles by Ariana Boswell

PANTHERx Rare to exclusively distribute Kygevvi for TK2d

Global pharmaceutical company UCB has chosen PANTHERx Rare to distribute doxecitine and doxribtimine for the treatment of TK2d.
Finding a diagnosis: Diseases that mimic TK2d symptoms

Making sure your care team is aware of both TK2d and its differential diagnoses is key to proper care.
Case study: First reported case of TK2d with neuropsychiatric symptoms

A recent case report describes a 59-year-old woman treated for psychiatric symptoms for over 30 years before being diagnosed with TK2d.
Doxecitine and doxribtimine safe in patients with renal impairment

A study found that levels of doxecitine and doxribtimine were higher in those with renal impairment after dosing, but this was not tied to safety concerns.
Imaging study identifies seizure patterns in mitochondrial disease

A recent study evaluated EEG and MRI findings for signs of status epilepticus, a complication of mitochondrial diseases such as TK2d.
How to ‘Light Up for Rare’ on Rare Disease Day

Landmarks worldwide will light up on Rare Disease Day.
What is encephalopathy?

In infants with TK2d, encephalopathy can mean seizures, cognitive difficulties and impaired hearing.
Case report: Ketogenic diet beneficial in infant with mitochondrial disease

A preterm infant diagnosed with MTDPS13, a mitochondrial disease similar to TK2d, was found to tolerate a ketogenic diet well.
Mitochondrial DNA release may trigger inflammation in TK2d

In patients with primary mitochondrial diseases such as TK2d, mitochondrial DNA may be responsible for activating immune responses.
Case series highlights diagnostic challenges of mitochondrial diseases

A recent study describes four young patients with mitochondrial DNA maintenance defects who did not receive diagnoses until young adulthood.