Our History
On April 7, 2022, after 72 days of testing, co-founders Ashley and Mike Dion’s 7-month-old son Maximus was diagnosed with a rare, spontaneous genetic mutation: GNAS mutation with Osteoma Cutis.
Who We Are
They always believed that with a diagnosis came treatment. Sadly, in Maximus’s case, this disease has no treatment and no cure. With little to no research available, Ashley and Mike began contacting researchers and hospitals to find someone who would be willing to research. The Mighty Maximus Foundation was created with a mission to find a treatment for Maximus’s rare genetic mutation and help families affected by other rare genetic mutations.
Where We Are In Our Journey
From the moment The Mighty Maximus Foundation began to exist, Ashley began reaching out to research hospitals. With the help of CHOP, Maximus will be having extensive genetic testing (as well as his mom and dad) to see all that is going on. Genetic counselors at CHOP have connected the family to a doctor specializing in ossifications, similar to Maximus’s osteoma cutis (bone that grows in skin), to see if they have seen anything close to what Maximus has.
How To Help
Whether you choose to donate your time or money, both are invaluable to our cause! Currently, we are searching for virtual volunteers to help us research and get in touch with the right people to help baby Maximus.
Why It Matters
GNAS is short for guanine nucleotide-binding protein, alpha stimulating. These genetic mutations are typically inherited from either the mother or father, but in Maximus’s case, it was completely spontaneous. Therefore, our current team of doctors are unsure what this means for his future. They do believe it will most likely progress to something called progressive osseous heteroplasia and, at this point, will only be monitoring his case.
Maximus’s case is so rare, that there is little to no research out there giving a hint as to what may happen. He’s at an increased risk for developing other complications, including certain cancers, and becoming disfigured leading to multiple surgeries to correct. Being able to fix the GNAS mutation would decrease these risks and would allow us to treat his osteoma cutis instead of continuing to watch it spread and grow.
Maximus may just be one baby to help with this specific genetic mutation, but behind him are so many other babies with similar stories and circumstances. Helping Maximus will lead us into helping others.
