ENERGY IN ACTION – EPISODE 90
Jeremiah Gracen TK2D Warrior with Mom Aneesa
Aneesa is the mom to Jeremiah, a beautiful, wonderful and special boy within our mitochondrial community. Aneesa shares her and Jeremiah’s story to inspire others in the community.
Can you share about Jeremiah’s disease and diagnosis journey?
Jeremiah has thymidine kinase 2 deficiency (TK2D), categorized under the mitochondrial DNA depletion or deletion syndrome, further classified as a myopathic form because it affects all the muscles in the body due to a lack of energy to function properly. Jeremiah developed a fever and became weak and floppy. He wasn’t eating well and was struggling to breathe. We were referred for genetic testing and received a diagnosis really quickly.
What changed when you received a diagnosis?
Jeremiah was the youngest patient in the world to be diagnosed, and the earlier the onset, the more progressive the disease. We were notified that there was no treatment and no cure and provided with alternative resources. We reached out to UMDF and we were further connected to additional resources and other families.
What can you share about the clinical trial that Jeremiah is participating in?
There’s not much I can share, but it’s a clinical trial related to his disease and it will be historic. There are currently no treatments available, but I am noticing that Jeremiah is improving, hitting milestones, and I’m sure to document everything along the way. The clinical trial medication in partnership with his quality care seems to be working well.
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