STOCKTON -- Lupe and Ricardo Buzo both grew up on Stockton's tough south side.

They met 15 years ago while students at Edison High School and have been a couple ever since. They worked hard and married six years ago with the intention of starting a family. When Ricardo Jr. was born the day before Thanksgiving 2008, it truly was a blessing.

Little did either parent know that each carried a recessive gene for an inherited metabolic disorder known as Hurler syndrome, which occurs in about one in 100,000 births. In their case, the chances are that one in four of their children will be born with the disorder.

Hurler syndrome is an enzyme deficiency that results in a build-up of storage material composed of sugars in the body's tissues. If left untreated, it leads to organ failure, mental retardation and death by age 8 to 10.

"They don't expect him to sit up on his own, but he is doing that now. He's kind of stiff-jointed, but he is turning book pages. He's very alert," said Lupe Buzo, 32.

"It's like he hasn't been affected by the disease, but you can tell. He's saying words, he's able to pick up a cookie and eat it - a Hurler's kid is not supposed to have all that ability. The doctors want to work with him before he loses all that."

There is a sense of urgency in Buzo's words. That's because with each passing day, little Ricardo is actually losing ground - and brain function - during a critical period that should be characterized by normal childhood development.

The Buzos got the diagnosis after repeated trips to their Kaiser pediatrician for Ricardo's persistent pneumonia, respiratory viruses and hernias in his lower abdomen. Ricardo was only 9 months old at the time. It was a lot to take in, that their perfect little boy was suffering from a rare disorder with a very long name: mucopolysaccharidosis, also known as MPS I.

"I was shocked when I checked it out on the Internet," said Ricardo Buzo Sr., noting that the doctor didn't want to overwhelm them with too much information on the first day. That would come when they met three weeks later with Dr. Kamer Tezcan, a Kaiser pediatrician who specializes in medical genetics in the Sacramento region. In 18 years, Ricardo is the third Hurler's case she has seen.

Tezcan admitted it can be overwhelming.

"They have never heard that this exists, and suddenly they are hit with this news - and they carry this gene? They think, there is no one in our family with this condition, but we all carry faulty genes - 10, 15, or maybe more, but we don't know this until we mate with someone," Tezcan said.

"There is no cure. But if you don't treat it, it will kill the child by age 10. We can maybe slow the progression of the disease," she said, explaining that the first step is to administer the man-made enzyme replacement.

"No. 2 is to do a transplant, whether it is bone marrow or human stem cell or cord blood. The sooner the better," Tezcan said.

Since no one in the Buzo family has tested as a compatible match for marrow or blood, the family is desperately appealing to the greater community - especially the Latino community, where a match is more likely to be found - to agree to provide a mouth swab for genetic testing.

One hundred people provided a sample Sunday at Presentation Church, and at least four more bone marrow drives are planned in Stockton where people can fill out a questionnaire and provide a mouth swab.

"Your goal is to find someone who is a perfect match. The likelihood of that is directly related to cell-surface proteins inherited along ethnic lines - the number of people of similar ethnicity. Hispanics are unfortunately underrepresented in the donor registry, so we historically have a harder time finding donors among our Hispanic patients," said Dr. Christopher Dvorak, the blood and bone marrow transplant specialist who is working with Ricardo at UCSF Children's Hospital, where he is scheduled to undergo a cord blood transplant at the end of the month.

Tuesday, Ricardo received his fourth weekly infusion of the replacement enzyme called Aldurazyme. The problem with the current enzyme-replacement therapy is that it doesn't prevent ongoing cell damage in the brain, because it cannot cross the blood-brain barrier.

But the expensive enzyme infusions are a positive step for Ricardo in the long term.

"It really does help get them in a very good place from a health standpoint before they embark upon the transplant," said Barbara Wedehase, executive director of The MPS Society, a national support and research organization based in Durham, N.C.

"One of the things we focus on is hope. We have seen changes and treatments where before there was no treatment. Now parents do have some options available to them. None of these treatments are cures, so we still have a long way to go," Wedehase said.

Because of his persistent breathing problems, Ricardo sleeps no more than two hours at a time, which places a burden on his parents. But you won't hear complaints. They get nothing but support from their extended family, their church - West Coast World Outreach - and their respective employers. Lupe works as an administrative assistant for Somerford Place, an Alzheimer's assisted living facility, while Ricardo Sr. is a receiver/clerk for C&S Wholesale Grocers. He's also a trustee on the executive board of Teamsters Local 439, which is hosting the next two bone marrow drives.

After the transplant, Ricardo Jr. will remain at UCSF Children's Hospital in San Francisco for at least 60 days, placing another burden on his parents.

"We feel that God is holding our hand," Lupe said, resisting any negative feelings. "You have to switch it off."

Lupe admitted that Ricardo Jr. is "a little spoiled," but perhaps that's understandable, because the first word she uses to describe him is "loving. He knows he's loved. He's full of joy."

Contact reporter Joe Goldeen at (209) 546-8278 or jgoldeen@recordnet.com.

Copyright © 2010 San Joaquin Media Group