http://www.lifetechnologies.com
Life Technologies' CIO, Joe Beery, talks about the family's journey of discovering his twins' misdiagnosis of Cerebral Palsy to confirming through sequencing technology that what they had all along was Dystonia.
[Joe Beery] This is my family, they're beautiful. My 17 year old son Zach, 14 year old twins Alexis and Noah. They're healthy, happy, full of life. Life wasn't always like this though, life was a lot harder. 1996 we were ecstatic to learn we were having twins, Alexis and Noah were born.
[Retta Beery] Everything inside of me knew that there was something wrong. From the day that we brought Noah and Alexis home they were colicky, they were throwing up multiple times a day.
[Joe] Somebody in the Beery household was up literally 24 hours a day.
[Retta] It was extremely stressful.
[Joe] How could that happen? I mean our previous example with Zach was he was just perfect.
[Retta] I would say between the two of them over 80 tests within the first 4 years of their lives.
[Joe] This felt like a never-ending rollercoaster and no answers.
[Alexis Beery] I just felt terrible, like I didn't feel myself what-so-ever.
[Joe] Her eyes would roll back in her head, and her hands would crawl up to her chest.
[Noah Beery] Well for me the main thing was throwing up all the time and I would throw up 24/7.
[Zach Beery] As the big brother it was like I wish I could take it on instead of them, you don't want see them go through that kind of thing.
[Retta] At 2 years old both Noah and Alexis were both diagnosed with Cerebral Palsy. So we had them in therapies; they seemed to be getting better. We reached age 5 and a half and Alexis had definitely been regressing.
[Alexis] The biggest thing I remember is not being able to reach people.
[Joe] All of the normal activities that any family would be able to do, we couldn't.
[Retta] For years I would ask, why is it when she wakes up in the morning she can walk and she can talk, but by 10:30 or 11 o'clock in the morning she could not even sit up.
[Joe] Retta was just the mamma lion, I mean every day she was just out there doing all the things she needed to do.
[Retta] I came across an article that was titled, "Deft Diagnosis, Segawa's Dystonia Mimics Cerebral Palsy"
[Joe] She's the true heroine, what she found changed our lives.
[Retta] One of the common threads that separates this disorder from Cerebral Palsy is how the patients function at a higher level in the morning and then as the day goes on they become more debilitated; and that was Alexis.
[Joe] So in 2001 the doctors began to treat the twins with levodopa; from the time in which Alexis took her first dose she was literally transformed. She was walking with her hands down, she was doing things we didn't even know she could do. She was whistling; she buckled her own seatbelt. We became a normal family. In 2008 I took a job a Life Technologies and that was a significant event in the Beery family.
[Retta] Late 2009 is when this cough that Alexis had been dealing with for about 6 years had turned into a severe breathing problem. We almost lost her several times; and so we are back into this world of doctors and testing, and no one can come up with an answer. We had the opportunity with Life Technologies to have their genome sequenced. I couldn't help but believe that we were going to find something.
[Joe] We went to the Texas Children's Hospital and the Baylor College of Medicine and spent the day with the teams there. They drew blood, and that was the only thing that they did. We saw the SOLiD systems in place, so we saw them actually sequencing the samples.
60 days after genome sequencing
[Joe] They identified the gene that caused the twins problems the gene SPR was associated with production of both neural transmitters; dopamine and serotonin. We knew about the dopamine deficiency, but the information about serotonin was new. This research has allowed doctors to better understand the twin's disorder and the breathing attacks which Alexis experienced.
[Retta] The biggest thing is that we now have substantiating evidence.
Weeks after new treatment therapies
[Alexis] I feel very good and I'm just like really a happy child now.
[Noah] Yeah, I feel like I can function more, I can understand stuff better.
[Joe] This is about the millions of other families looking for answers.
[Retta] That's our hope, that kids with rare disease will have this opportunity so that they can be treated and that they can new lives and new hope. Our heart and our passion has always been in this journey to reach out to other people.
[Joe] This is a living example of what we do at Life Technologies, how this research allows doctors to better understand diseases, and it's personal to me.
To read the full paper in Science Translational Medicine covering this, please visit http://stm.sciencemag.org/content/3/87/87ps23.full
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The Answer is in the Sequenceby LifeTechnologiesCorp23,452 views
I watched this story on NBC Today's show this morning, such a great story. I will share this version on Daniel's YT channel and FB.
~Daniel's mom
walkingdan 4 months ago