Neena Nizar, PhD, founder of the Jansen’s Foundation, is the personification of the determination. Born with a rare disease that was not properly diagnosed until after her sons’ were also diagnosed with the condition (Jansen’s metaphyseal chondrodysplasia), Nizar moved from Dubai to the United States to be closer to experts in the field so that a treatment can be more quickly developed.
Since moving to the United States in 2015, Nizar has formed a non-profit organization and funded research to better understand this condition that will eventually lead to a treatment.
Nizar said, “one of the greatest takeaways from my journey so far has been never let anybody tell you
that it can’t be done. I think we have enough resources around us we just need to tap the right resource. we also need to arm ourselves without enough knowledge about our diseases as well as to never give up.”
Jansen’s metaphyseal chondrodysplasia is an extremely very rare autosomal dominant disease. It is a skeletal dysplasia characterized by short-limbed short stature, waddling gait, bowed legs, contracture deformities of the joints, short hands, clubbed fingers, clinodactyly, prominent upper face and small mandible features. Chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia are also common symptoms.
At present, there are only 30 people in the world known to have Jansen’s disease but recent research, largely funded by the Jansen’s Foundation, has led to amazing breakthroughs in the pathophysiology of this disease as well as possible treatment options.
For more information, visit https://www.thejansensfoundation.org
