There is a photograph that Carolina and Jose Alfaro hold precious over many others. They treasure it not just because it is a reminder of a joyful Christmas or for the disarmingly cute faces of their three sons. It is held especially close to their heart because it is one of just a few photos of their entire family — taken at a time when all of their sons were alive.
The Turlock couple has gone through the nightmare and heartbreak of watching their two younger sons — Diego and Adrian — struggle with a rare genetic disorder with a progression towards death that the parents were unable to stop or slow.
It would be understandable if the grief they bared was too much to talk about, but Carolina and Jose have made it their mission to keep the memory of their sons alive by serving as a lighthouse for others.
The Alfaros were part of the driving forces that got the Global Foundation for Peroxisomal Disorders off the ground and continue their support with a biannual dinner dance to raise funds for the nonprofit.
Carolina and Jose already had one healthy son, Jose Jr., when they welcomed the arrival of their son Diego. But unlike his older brother, Diego was not healthy. From his birth he was plagued with digestive issues that required him to have surgery as a newborn. The surgery was a success and the doctors told the Alfaros he had gotten off to a “bad start” but should start improving. And there was improvement to be seen in the months that followed, but Diego had very little muscle tone, few motor skills, and continued to miss some of the key milestones.
“The doctors kept doing testing and we were on an emotional roller coaster of what ifs,” said Jose.
It happened to be that one of their doctors at UC San Francisco had recently written a paper on Peroxisomal Disorders and decided to test Diego for the genetic mutation.
“When it came back positive, it went from what ifs to reality,” Jose said.
Diego was diagnosed with Zellweger Syndrome, one of four related diseases called Peroxisomal Biogenesis Disorder. The National Institute of Neurological Disorders and Stroke explains peroxisomes as “cell structures that break down toxic substances and synthesize lipids (fatty acids, oils and waxes) that are necessary for cell function. Peroxisomes are required for normal brain development and function and the formation of myelin, the whitish substance that coats nerve fibers. They are also required for normal eye, liver, kidney and bone functions.” In Zellweger Syndrome, the mutation damages the genes and the peroxisome cannot function like it should. It often causes visual and hearing impairments, mobility issues, lack of muscle, digestive problems and neurological complications.
The diagnosis of a genetic disorder was a double hit for the Alfaros, because they had recently learned Carolina was pregnant with their third child.
Adrian came into the world in 2008 and was immediately tested for PBD, and like his brother before him, the test was positive.
PBD is a terminal disease with very few treatment options for the symptoms. The average life expectancy is about one year.
“When they told us about the life expectancy, we were reeling, because Diego already was 11 months,” Jose said.
Feeling lost, confused and apprehensive, the Alfaros reached out to find other families dealing with PBD, but their plea for help went unanswered. It is such a rare disorder that as far as the Alfaros could tell, their case was the only one in California and possibly the entirety of the west coast.
But their search was not completely fruitless. They were pointed to an online group on Yahoo and in that chat room they found they were not alone.
“There was comfort that came from knowing we were not alone in this,” said Carolina.
That community grew when the parents of children with PBD formed the GFPD and hosted their first conference in 2009. Sadly, by that time the Alfaros had already lost Diego, who died at two and a half years old.
“That first conference was hard because I could see other kids that looked like mine and got to hold them,” Carolina said.
“But it was also uplifting because even though we all came from different backgrounds and had different political views and religious beliefs, we had a bond,” Jose said. “We got each other and all spoke the same language.”
By January of 2011, the GFPD had a membership rank of more than 300 families that were finding new and creative ways to spread awareness and lend support to one another, which was something the Alfaros needed more than ever at that time. Their youngest son Adrian died from PBD just two weeks shy of his third birthday.
It was in that year that the Alfaros decided to turn some of their grief into a celebration of their boys’ lives and they started the GFPD Dinner Dance. The biannual event now in its third year, has raised more than $30,000 that has been donated to the GFPD. The nonprofit uses the funds to help with equipment exchanges, supporting families, their annual conference, and for research and grant projects.
“The rarity of the disease is good in that not too many families experience it, but it’s bad for funding research,” Jose said. “Pharmaceutical companies aren’t going to put money into developing a drug that doesn’t have the numbers behind it, so it is up to us to keep pushing for new research.
“Our goal is that our son Jose or any other family will never have to go through the loss of a child from PBD,” Jose said. “This is our way of keeping our boys’ memory alive.”
This year’s GFPD Dinner Dance will be on Saturday at the Modesto Centre Plaza. Doors open at 5 p.m., with dinner at 6 p.m. and dancing starting at 7:30 p.m. The event’s honored guest will be Ezra Burdick, a 4-year-old girl from Arizona living with PBD. Music will be provided by The Mike Torres Band. Tickets are $50 and are available at http://www.diegoandadrian.com under the upcoming events link. Tickets will also be available at the door. The web page also has a link for donations to GFPD.