Like many parents, Aneesa’s introduction to mitochondrial disease was jarring.

After months of jumping from specialist to specialist who ran test after test searching for answers around the weakness in her then seven-month-old son, Jeremiah, she got a dreaded answer. Her son had Thymidine kinase 2 deficiency, better known as TK2d, an extremely rare inherited mitochondrial disease and enzyme deficiency that affects less than 200 people in the U.S.

 “They handed me a sheet with his diagnosis and some mito resources, said he had a few months to live and told me to get in touch with hospice,” said Aneesa.

At the time, Jeremiah was one of the youngest TK2d patients in the world – with early onset often leading to worse outcomes.

Aneesa said she cried for three solid days. On day four, she formulated a plan of attack.

She researched TK2d endlessly, reaching out to affected families and advocacy groups for answers. Amongst her first wave of emails was one to the United Mitochondrial Disease Foundation (UMDF).

“I remember being particularly heartbroken for Aneesa,” said UMDF’s Margaret Moore, who handles support and education, “especially the way she was given a diagnosis and sent on her way.”

Margaret connected Aneesa with a UMDF ambassador, a volunteer – often patient family members – who help mito families navigate the world of doctors, tests, clinical trials, and more.

Aneesa’s outreach would eventually lead her to Dr. Michio Hirano of Columbia University, who helped her chart a course for Jeremiah’s clinical care.

It has been over four years since Jeremiah’s diagnosis. Despite a grueling regiment of medication, tracheostomy tube clears, gastrointestinal distress, feeding tubes, and more, Aneesa describes Jeremiah

After a hospitalization scare left him with two collapsed lungs – an issue that keeps him on a ventilator most of his day even now, Aneesa decided the world should know about TK2d.

She now volunteers as a UMDF ambassador, helping support other mito families just like she was supported years before. In 2021, she became a Consumer Peer reviewer for the Congressionally Directed Medical Research Program which helps allocate and fund research programs – including mitochondrial disease – for the Department of Defense. She also joined the Patient and Family Advisory Council at the University of South Carolina.

In January of 2022, she participated in a UMDF-sponsored Patient Listening Session with the U.S. Food and Drug Administration (FDA) where she underscored the burden of TK2d and need for new treatments.

“When I talk to decision makers, I want to paint a picture,” said Aneesa. “We’re talking about the ability to eat, to breathe, to walk. I want them to see the human side of things — to appeal to the person under the uniform.”