Panama City Beach Family Pursues Rare Genome Sequencing for Son

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PANAMA CITY BEACH- A Panama City Beach family is on a quest to find out what is causing rare seizures plaguing their son. Their exhaustive efforts have led them to pursue rare genome sequencing. Ten years ago the first human genome was sequenced at a cost of one billion dollars. Today the cost is a fraction of that, just $10,000. It is amazing how fast the research is advancing, making this previously unattainable avenue within reach for the Darvai family. Now one of the world's leading rare genomics researchers is on the case, he's hoping to identify the gene causing those seizures.

Seven-year-old Balazs Darvai started suffering terrifying seizures at 9 months old. Rare seizures that cause him to stop breathing, seizures that medications can't stop. "He is on 3 seizure medications all the time. And he just doesn't seem to find the right one which would help to make him seizure free," said his mom Zsuzsanna.

His complex condition includes a developmental delay and autistic like behavior. "I still have him in a high chair, he is still not potty trained, he still has to be watched 24-7, he is dangerous to himself," explained Zsuzsanna.

When local doctors told them to accept his condition, the family took their case to UF Health Shands Hospital in Gainesville. A physician and genetics professor there recommended genome sequencing. "There was a time when I was giving him 50 supplements a day. We have done so, so much that if we would be able to get information, that would help us tremendously either to know how to help him, how to treat him, what supplementation to give him. My biggest hope would be that we find a diagnosis of the cause of his troubles. He has a healthy sibling. Our family is healthy, so it's a big question mark," said Zsuzsanna.

Dr. Jimmy Lin is the founder of the Rare Genomics Institute at Washington University in St Louis, where Balazs' genome, or genetic blueprint, will be sequenced. "We will start out with maybe 30,000 or more differences in Balazs' genome and then take away parts that are present in other people in the population. Hopefully we are going to come down to a very small number of candidate genes that are potentially able to explain what is wrong," explained Dr. Lin, MD, PhD.

Those findings will help not only Balazs, but others struggling with rare genetic diseases. "We are at this sort of golden age where we are going to start finding out what a lot of these genetic disease sequences are and finding out for the first time the causes of these diseases. Really moving the needle in understanding and helping these children for the first time in history!" said Dr. Lin.

That is giving hope to those who so desperately need it. "I could mention several doctors who are saying "just accept the fact that he has all of these complex issues and we are not able to find an answer. I don't agree with that, I don't agree," said Zsuzsanna. "If you have hope you have everything."

Dr. Lin says it could be anywhere from 2 or 3 months to a year before the results of Balazs' sequencing are complete. Click on the link provided for more information about the Rare Genomics Institute.


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