FRESNO, CA (KMJ ) – A Fresno mother is fighting for her son’s health.
Since birth, Kerry Rivas’ son Donovan has been dealing with a very rare, life-threatening Connective Tissue disease.
“It’s called Shprintzen-Goldberg Syndrome, and there are less than 70 cases world wide, and I’ve become the voice for this disease.” – Kerry Rivas, Donovan’s Mother.
We are currently involved with Johns Hopkins Medical Center and National Institutes of Health (NIH) as they continue to research this disease. There are many complications that go along with this disease the most life threatening are the involvement of heart and upper cervical spine instability.
Shprintzen-Goldberg syndrome is often caused by defects or mutations in the SKI gene. This gene provides instructions for making a protein that cause too much TGFbeta activity, which alters its function in tissue development and maintenance.
It leaves Donovan without the ability to digest his food, so Rivas has to flush his intestines every other day -a process that takes hours.
Rivas hopes that an upcoming fecal transplant operation will help repopulate his good bacteria.
To spread awareness, Kerry (pictured above with daughter Rain) has started a non-profit and a web site: http://www.donovansdisease.com/index.html
A fundraiser will help her project gain more money to help other children and her own in the fight.
A benefit for Donovan’s disease – the 11th Annual Jurassic Park Jam takes place in Fresno, Saturday, January 28th at 7:00 at Fulton 55. Info: http://www.donovansdisease.com/fundraiser_info.html
Click below to hear the story by KMJ Reporter Liz Kern:
