Tim-&-Chris-Marathon-Fundraiser
Tim-&-Chris-Marathon-Fundraiser-2

Dear Friends:

On Sunday 9 October 2022, we (Chris & Tim) will be running the Chicago Marathon to raise research funds for the NR2F1 Foundation, and we need your help!

We have been friends since meeting the first week of freshman year at Trinity College in Hartford, CT. A mere 20 years later, we’ve remained steadfast and close through life’s inevitable ups and downs. Tim is lucky enough to call himself godfather to Chris’s eldest daughter, Mia – and Chris is godfather to Tim’s youngest daughter, Edith.

In March of 2022, Edith was diagnosed with a very rare genetic neurodevelopmental condition, known as BBSOAS.

If you’ve never heard of BBSOAS, count yourself in the healthy majority (>99.99999….%) of the world! BBSOAS, also known as Bosch-Boonstra-Schaaf Optic Atrophy Syndrome, is an ultra-rare (ie. lottery winning odds) neurological disorder caused by a disruption in the NR2F1 gene, characterized sadly by a wide array of features, but the most common are vision impairment, developmental delay, physical and intellectual disability. There are currently only a few hundred known cases of BBSOAS worldwide.

As parents, walking out of the doctor’s office on that March morning with Edith’s diagnosis, and the terrifying unknowns such as to what extent she will talk and walk, Tim and Jennifer felt alone, helpless and lost. This is a common thread that connects all rare disease patients and families. Medical understanding, knowledge and research of rare diseases is limited. Patients and their families often are presented with an information vacuum, fall victim to misdiagnosis, delayed treatment, poor care coordination and a lack of support. Having a rare disease can be an isolating experience not only for the patient, but also his or her family.

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Gratefully we soon found the NR2F1 Foundation – a parent-patient led charitable foundation, established, run and largely funded by those directly impacted by BBSOAS. The NR2F1Foundation is dedicated to those living with BBSOAS and their mission is to empower the BBSOAS community through education, awareness, and research. We were immediately connected with a global network of families, carers, doctors, and scientists united around supporting patients and their families. We’ve learned that while exceptionally rare, we are not alone.

This is where we need your help. On Sunday 9 October, we will be running the Chicago Marathon to raise research funds for the NR2F1 Foundation, and we need sponsorship!

100% of proceeds raised will go to the NR2F1 Foundation. Specifically, into researching the mechanisms of how BBSOAS works and for studies to develop new medications.

Edith is a loving, sweet and cheeky little sister and we are so grateful to have her in our lives. As a family we have grappled with being open about this, and until this point we haven’t shared outside our immediate circle. However, just like all children, Edith deserves the best, and we need your help to give her that.

We thank you for your support for Edith and all those impacted by BBSOAS.

Sincerely,
Chris, Tim, and the entire BBSOAS community

PS – To those of you who are U.S. based, please consider any matching donations your employer may offer!! NR2F1 Foundation is a registered 501(c)(3) non-profit organization (Federal ID# 83-2659721)

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* We take privacy seriously. We do not sell, rent or otherwise disclose personal information collected by our site to third parties.