Genetics research provides family the answer they’ve been searching years to discover – ABC15 Arizona

PHOENIX She may not be able to say much, but like any kid her age, her bright smile lights up even more when she thinks about Christmas.

You want to go see the Christmas lights on Friday?" asked sixth-grader Emmas mom Annette Medina.

Yeah, responded Emma with excitement.

Emma is just a ball of joy. Shes a happy little girl, everyone who meets Emma just falls in love with her, said Annette, sitting with her daughter at a park near their home.

At just 11 years old, Emma has spent more time in hospitals and doctors' offices than most will in their lives.

At about 6 months old, at regular standard pediatrician visits, we started noticing she was falling off the curve in growth, height, some of her developmental milestones, said Medina.

Born a healthy baby, the situation for Emma quickly turned. Soon after, she couldnt sit up without support. She wasnt crawling, walking, or talking.

We probably went on for about two and a half years of just seeing doctors and specialists and therapists, and everyone you can think of to figure out what was going on with her, said Medina.

Sadly, no one could provide an answer, which began to weigh on Medina who was filled with guilt.

There was so many days and nights that I had blamed myself, was there something I did in my pregnancy, was there anything we did wrong, was she exposed to something? said Medina.

They want to know will their child live a full life, and these types of questions are very difficult to answer if you dont know what the problem is, said Dr. Vinodh Narayanan.

Dr. Narayanan dedicates his life to providing families like Emmas with the answers that have long evaded them, leading the team of geneticists at TGen's Center for Rare Childhood Disorders.

They say the average time a family is searching for an answer is seven years before they come to us, said Dr. Narayanan.

He says the challenges posed by young patients at the center are among the most difficult in medicine, since families often arrive with just a collection of symptoms, looking for any clues about what is wrong with their children.

These cases are usually mysterious at first, but sequencing often allows us to provide these families with a diagnosis that can lead to therapies and a better life for their children, said Dr. Narayanan.

After hearing about the center on the news, Emma and her family had their genes sequenced and closely examined. The tests and research eventually discovered a genetic variant and a diagnosis of cerebellar facial dental syndrome a condition only found in about 20 people worldwide.

Seeing that there were kids older than her that had this I was able to say to myself, 'OK shes going to be able to get to at least this age,' said Medina.

Theres no treatment at the moment but if this experience has taught them anything its to never give up hope.

Today, there may not be an answer, tomorrow there could be an answer, said Medina.

Click here for more information on the center or to get help for a loved one.

Read more here:
Genetics research provides family the answer they've been searching years to discover - ABC15 Arizona