What is San Luis Valley Syndrome? - KOAA.com | Continuous News | Colorado Springs and Pueblo

What is San Luis Valley Syndrome?

A father from Peublo comforts his son during care at Memorial Hospital in Colorado Springs. (KOAA) A father from Peublo comforts his son during care at Memorial Hospital in Colorado Springs. (KOAA)

There's a rare genetic disorder similar to Down Syndrome that kids are born with causing abnormalities, birth defects, and mental delay.  It's called Recombinant 8 Syndrome, and also known as San Luis Valley Syndrome.  Doctors at UCHealth Memorial Hospital in Colorado Springs say it's a condition they are likely to see more than other hospitals in the nation, and they only see it two or three times a year.

The San Luis Valley includes a chunk of southern Colorado, and a small part of northern New Mexico.  The genetic condition has been traced back to a single person who settled in the area from Spain back in the 1800's.   

Doctor Stephen Wade, a Neonatologist at Memorial says, ”The original settlers had the inversion of the chromosomes which is the carrier of having the condition.  It's been known as  Recombinant 8, but it became known as San Luis Valley because of the area it where it was first recognized.”

Fabian and Sarah Lobato, and Bernadette Martinez and Ray Cordova, are two couples who live in Pueblo.  Both couples also have young sons about a year old that were born just 11 days apart.  Both boys, Sean Lobato and Grayson Martinez have San Luis Syndrome.

Fabian and Sarah thought they had a normal pregnancy says Fabian.  “When he was born, it was about five hours after he was born they noticed that he was having seizures and he would stop breathing.  So we got rushed to Memorial and a week later we found out Sean had the Recombinant 8 or San Luis Syndrome.”

Bernadette says she and Ray discovered Sean's condition while she was still pregnant.  ”They said he has this genetic disorder, but physically his heart looks ok. He doesn't have the cleft palate, he doesn't have a lot of the things that they normally they do when they're born with San Luis Syndrome.”

Fabian explains, “One of the doctors explained to us, that it's like autism.  You have a full spectrum where you can have a really severe case, or you can have just the minimal case.”

Babies with San Luis Syndrome on the severe end of the spectrum, don't have a long life expectancy while those on the lower end still face challenges and uncertain future.  Doctor Wade say’s “It affects them with abnormalities, generally in the heart and genitourinary systems.  It also can affect the intellect and there is a typical factual feature that the children have.”

These couples didn't know each other when their sons were born and it was a chance meeting at the hospital in Pueblo that eventually led to little Sean and Grayson meeting.  Sean’s father Fabian says, “Sean was really happy to finally see another baby because we were pretty secluded in the house during that time.  It's really nice to have someone that knows exactly what we're going through and we can do it day by day.”

Bernadette explains for her and Ray, “It's rare in itself to have two kids be born with the same rare genetic disorder in the same year.  It’s even more special to us, because we can look at both our kids and see that they have so many similarities.”

Ray is a Pueblo native and Fabian was born in Alamosa, but neither couple had ever heard of San Luis Syndrome.  Genetic testing can determine if someone is a carrier but that doesn't guarantee it will be passed onto their child says Dr. Wade.  “There are tests that can predict it.  There is an inversion of the carrier chromosome so only about 6% of those parents that have children, will ultimately have children who have the condition.”

Like parents of any special needs kids, daily life is a challenge for these couples.  Both Sean and Grayson have feeding tubes and Sean is on oxygen.  At the same time both Fabian and Sarah and Ray and Bernadette have hopes and dreams for their sons, and wouldn't trade them for anything.

Bernadette explains when it comes to Grayson, ”I just want him to be happy.  With the way medicine is today he might be delayed right now but in five years he can be one hundred percent I guess normal and you would never know that he was ever struggling before this.”

Sarah say’s about Sean, ”I see him as such a blessing.  He's taught me a lot and I think if we had known about it before we tried to get pregnant it would not have changed our minds.”  

Fabian completely agrees.  ”Absolutely, it wouldn't never have changed our minds.  He is a wonderful blessing, and every day we learn something new and it's amazing.”

Both Bernadette and Fabian have become stay at home parents and are certified Parent C.N.A.’s through Aim home health in Pueblo.  

While this genetic disorder has been traced to the San Luis Valley, while still very rare there are now cases outside of Colorado and outside the United States.

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