Quantcast

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)
COLORADO SPRINGS -

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.

Top Trending Videos

WEATHER
Drive the Doppler
  • Most Popular StoriesMost Popular StoriesMore>>

  • Credit Union manager charged with stealing $125K from client account

    Credit Union manager charged with stealing $125K from client account

    Saturday, December 16 2017 12:30 AM EST2017-12-16 05:30:14 GMT

    Federal agents have arrested a former credit union branch manager in Pueblo that they believe stole more than $125,000 from the savings accounts of a woman in her 90s. 

    Federal agents have arrested a former credit union branch manager in Pueblo that they believe stole more than $125,000 from the savings accounts of a woman in her 90s. 

  • CDC receives list of banned words

    CDC receives list of banned words

    Saturday, December 16 2017 3:11 PM EST2017-12-16 20:11:23 GMT

    According to multiple reports, the Trump administration has given the Center for Disease Control a list of seven words that are banned from use in any official documents being put together for next year's budget. 

    According to multiple reports, the Trump administration has given the Center for Disease Control a list of seven words that are banned from use in any official documents being put together for next year's budget. 

  • News 5 Investigates confronts squatters who invaded Pueblo woman's home

    News 5 Investigates confronts squatters who invaded Pueblo woman's home

    Friday, December 15 2017 1:06 AM EST2017-12-15 06:06:47 GMT

    Squatters take over a Pueblo woman's home and refuse to leave. Sound like a familiar case?   As News 5 Investigates has reported, police often can't do anything about these situations until homeowners evict the squatters. Lawmakers are hoping to change that next year with new legislation that will offer more protections for homeowners dealing with squatting situations. The final touches are being put on the bill this week. As soon as we have a copy of the bill, we'll s...

    Squatters take over a Pueblo woman's home and refuse to leave. Sound like a familiar case?   As News 5 Investigates has reported, police often can't do anything about these situations until homeowners evict the squatters. Lawmakers are hoping to change that next year with new legislation that will offer more protections for homeowners dealing with squatting situations. The final touches are being put on the bill this week. As soon as we have a copy of the bill, we'll s...

Powered by Frankly

© KOAA.com 2017, KOAA.com
A CORDILLERA COMMUNICATIONS Station
All rights reserved
Privacy Policy, | Terms of Service, and Ad Choices

Can't find something?