Mission Max - DONATE HERE!

Our vision is to save Max's--and that of the 1,000 others diagnosed with Cohen Syndrome! Please consider supporting our Cohen Syndrome Champions team as part of the Million Dollar Bike Ride rare disease event on June 8!

Your donation will go directly towards Cohen Syndrome research, with grants issued in 2025. This research can make a major difference in the outcomes and possibilities for our children.

Max will be joining us again at this year's event, and walking the Million Dollar Mile! That he can do this is absolutely incredible, and a testament to the power of physical therapy, which he's had consistently since he was 6 months old. He continues to amaze us all with what he can accomplish.

Cohen Syndrome has impacted his development in so many ways, but he never gives up and brings his brilliant smile and sense of humor to face the challenges before him. He attends a special needs school and gets a wide range of therapies daily.

While he is still nonspeaking, Max's communication abilities have grown as he's continued to use his AAC device, his "talker". He's able to ask us to take him to his favorite places--including the beach--and much more. It is thrilling to learn more about his internal world and thoughts, and for him to be able to exchange ideas at last.

We deeply appreciate your donations, which are matched by U Penn up to $30,000 dollars to double your impact!

Thank you for supporting Mission Max and the Cohen Syndrome Champions!!

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About Cohen Syndrome and COH1/VPS13B

Cohen Syndrome is a rare genetic disease (approximately 1,000 people diagnosed worldwide). It is caused by mutations in chromosome 8 at gene COH1, or VPS13B.

PEOPLE WITH COHEN SYNDROME ROCK!

They generally love to smile, laugh, and be social. It is hard not to fall in love with these sweet individuals! However they face many challenges due to the broad spectrum of symptoms of Cohen Syndrome, including:

failure to thrive, developmental delays, intellectual disability, small head size (microcephaly), weak muscle tone (hypotonia), and overly flexible joints, which often result in orthopedic issues. Many have behavior that falls within the autism spectrum. Speech delays are common with many affected individuals being nonverbal. Independence is impacted as well - individuals typically require lifelong caregiver support.

This condition includes progressive myopia (nearsightedness) and severe retinal degeneration (dystrophy) beginning at an early age. This leads to peripheral vision loss, night blindness and typically legal blindness by adulthood. This is one of several issues limiting the potential for future independence, and impacts more than 90% of individuals.

Many people who have Cohen Syndrome also suffer from moderate to severe autoimmune neutropenia, an abnormally low number of white blood cells to fight against bacterial infections. Having this condition makes them extremely susceptible to life threatening infections and requires that fevers be managed as medical emergencies.

Research Plan

We are fundraising in partnership with the University of Pennsylvania's Orphan Disease Center (ODC) as part of their Million Dollar Bike Ride for Rare Disease Research program. Research priorities for Cohen Syndrome are (1) study of the function of the VPS13B gene and underlying pathways and (2) development of potential therapeutic interventions.

THANK YOU FOR JOINING US IN THIS MISSION!

EMPLOYER MATCHING? Check here: https://ww2.matchinggifts.com/uofpa. Organization you should input for matching is: University of Pennsylvania School of Medicine - TRUSTEES OF THE UNIVERSITY OF PENNSYLVANIA. Scheie Eye Institute, Philadelphia, PA, 19104-6021, United States, U.S. Tax ID/EIN: 23-1352685. Be sure you advise this is for MDBR - Cohen Syndrome Champions team when submitting!