CLIFAHDD Research Fund (in honor of Cora)

One year ago (4/13/22), Cora was diagnosed with Contractures of the Limbs and Face, Hypotonia and Developmental Delay (CLIFAHDD Syndrome) due to a randomly acquired NALCN gene mutation. With less than 30 patients studied worldwide, CLIFAHDD is a nano-rare disease associated with limb deformities, impaired intellectual development, respiratory distress, seizures, and childhood mortality. Such rare diseases lack support and resources for discovering treatment.

We were devastated by the news that she may never walk, talk, or eat on her own. It remains a daily battle with therapies, orthopedic braces and doctor appointments, but over the last year, we have found hope through initiating collaborative engagement in research between friends, colleagues, Cora’s physicians, and international researchers committed to advancing care for NALCN-related diseases. The collaboration thus far has been achieved entirely on a volunteer basis but the next step involves funding research studies. Additionally, for such a rare disease, we know how important it is to support the careers and interests of early career research scientists. For these reasons, we wish to fundraise to be able to offer research awards to keep the momentum going.

We are working towards establishing a research foundation in the US to accelerate efforts between US and international researchers. In the meantime, to recognize the anniversary of Cora’s CLIFAHDD diagnosis, Shayanne will be competing in her first-ever triathlon to raise funds to support CLIFAHDD research ONE MONTH from now (5/13/23). With training starting today, every donation will be motivation to train and every donation will go directly to funding CLIFAHDD research.

If you would like to give a tax-deductible donation or donate via check/venmo, please reach out to Shayanne or Jeremy.