Sunday, July 31, 2011


I came across the article below on the news. It was very interesting to me, because the parents ended up using targeted therapy to treat their children.

While Gene-mapping is very expensive and I don't think it is necessary for people with DS (at least right now), it still made me think.

We already know what causes the symptoms of Down syndrome. An extra chromosome. And therefore all sorts of proteins, genes, etc are overexpressed and rearing their ugly head at times.

I wonder, if in the future, if Gene-mapping ever becomes a more routine thing (and therefore less costly), if it would be beneficial for people with Down syndrome? Because every person with Down syndrome is different, their 255+ extra genes on the 3rd chromosome are going to be affecting their body differently. And to get a targeted nutritional plan for them based on Gene-mapping may help a lot.

That is something which may never happen or may be years in the future. So, for now, I'm extremely thankful for what we can do and target with nutrition via all the research that is done. There is SO much that can be done. My brother, along with thousands of other children with Down Syndrome are living proof of that.

Will gene-mapping technology transform the lives of people suffering from serious illness? For one California family, it already has.

Alexis and Noah Beery of Encinitas, Calif. are now healthy, fun-loving teens, but that wasn't always the case. From birth the twins - now 14 - suffered from one illness after another. "It was a household, kind of, under chaos" their dad, Joe Beery, said in an interview on CBS' "The Early Show."

When the twins were two, their doctor diagnosed them with cerebral palsy. But their parents were skeptical.

"When you have cerebral palsy, you normally don't get any worse, and Alexis continued to get worse and worse," Joe said.

The kids were experiencing seizures, uncontrollable vomiting, and problems with balance and coordination. A family video shows young Alexis losing her balance, and her mother said during this time she wasn't even able to put on her own seatbelt. By age five, Alexis was regressing to the point where she lost motor abilities she had before. "At that point I knew something wasn't right," their mom Retta said.

Retta took to the internet and found an article about Segawa's dystonia. The rare movement disorder that mimics cerebral palsy, but can be treated with the Parkinson's drug, levodopa. A new doctor confirmed her suspicions, and once Alexis got treatment, she improved dramatically.

But two years ago Alexis suffered a serious setback experiencing breathing troubles that sent her to the emergency room. "We almost lost her a couple times," said Retta.

The same tenacity that led Retta to find the Segawa's disease diagnosis led her to find Baylor University's Human Genome Sequencing Center. She thought if her twins had their genomes mapped, doctors could pinpoint the defective gene and fix it.

And that's just what happened.

"We were able to zero in on the exact gene that was broken or wrong" the center's director Dr. Richard Gibbs, told CBS News. "These twins were immediately able to be offered a new treatment that could benefit them, and we're able to see that directly from the DNA information."

Today, Noah and Alexis are symptom-free on a personalized treatment of dopamine and serotonin supplements.

CBS Healthwatch medical correspondent Dr. Jennifer Ashton calls personalized medicine like this is the wave of the future, but says it's not for everyone.

"It's really most effective when you're talking about a disease or disorder where there's a single gene that's mutated," Ashton said. "That's where the targeted therapy becomes really effective." Gene mapping isn't cheap either - Ashton reported that Baylor's genome mapping costs $100,000.

But for the Beerys, it was all worth it. "The sequencing gave us answers, the sequencing gave us new life," Retta said. "To see our kids doing all the things that we only dreamed of, is truly a miracle."

Country Girl Designs


Unknown said...

I am fastinated by genomic testing and pharmacogenetics. I think it is the way of the future for medicine. Hopefully this type of research will help with some of the diease states that affect our children like leukemia.

Great post.

Be gentle.

Related Posts with Thumbnails