Marissa Bennett , Janaya Bennett and Janine Bennett

Our daughter and sister Daviana was born on November 3^rd, 1998. It was a terrifying time when she was born. Daviana was not breathing, and they thought she had hydrocephalus because her brain was full of fluid.  This was a shock because the results of testing and ultrasounds throughout the pregnancy all came back from the doctors as normal.   The doctors were at a loss, and she spent 8 weeks in the NICU at MGH.  The doctors finally had a genetic diagnosis, Prader-Willi Syndrome (“PWS”), a rare genetic disorder.    PWS was a challenge to manage throughout her life, constant food restrictions, stealing of food, spinal deformities and plenty more other issues that goes along with this syndrome, for which there is no cure.

In September of 2019, Daviana fell off of a special needs tricycle and broke her elbow.  She was recovering nicely from the surgery, then her arm stopped moving.  The orthopedic surgeon suggested a follow up with the Neurology Department, who in turn order an MRI on her brain.  Two days and one angiogram later, she was diagnosed with another rare disorder, Moyamoya Disease (“MMD”).  This is also a rare disorder, not correlated with her PWS, and required a surgery to try to stop the progression of the disease.   Since there was only ONE other patient diagnosed with both PWS and MMD they thought further genetic testing was required.  That is when she was diagnosed with a 3^rd rare disorder, NFIA – Related Disorder. More specifically a 1.p31.3 variant deletion of the first chromosome. This explained her low intellectual functionality and other symptoms that didn’t necessarily “fit” with PWS.  The geneticist told us, “I’m sorry there isn’t a support group or specialist that I can refer you to, there are only 26 other documented cases in the world.”

Unfortunately, the brain surgery she had to prevent the progression of the MMD, was not successful.  She passed away at home on February 17^th, 2022, at the age of 23 years old.

While Daviana suffered, she was always a happy go lucky person – and that is how we will always remember her.  As her mother and sisters who loved and cared for her throughout her life, we saw first-hand the need for greater support for those like Daviana suffering from such rare diseases.  And we are committed to advocating in her memory for increased research into extremely rare diseases, so no other families have to suffer like ours.