Sometimes a bit of skepticism is a good thing.
RareConnect.org reports this was definitely true for Tina and Fernando when their sweet little boy, Nico, was diagnosed with epilepsy. At nine months old, he had his first tonic-clonic seizure, which was terrifying for his parents. They had no idea what was going on. When the paramedics arrived, the seizure had already passed. But, based on their descriptions, the paramedics told them to take Nico to a neurologist.
That’s when they received the diagnosis of epilepsy and Nico started on the epilepsy pill carousel. The doctors had him trying pill after pill, and each one did nothing to help his seizures. If anything, they made them worse.
Nico’s parents were already skeptical about giving him medicine. Experience is a good teacher, and their own experiences with medications had not been good. That’s why they never hesitated to speak up to their doctors.
Tina and Fernando noticed a pattern in Nico’s seizures. They mostly happened in the morning after he woke up, usually having about 10-15 head-drop (atonic) seizures before breakfast. But then, after he ate, Nico’s seizures would stop, and as long as he ate regularly for the rest of the day, he’d remain seizure-free until the next morning.
But doctor after doctor wouldn’t listen. Their only solutions were different pills. Meanwhile, Nico fell farther behind his peers. He didn’t begin walking until he was three years old, and that was only after intensive therapy.
But as all caregiver parents know, what you need the most is perseverance. And Nico’s parents refused to give up. They kept trying new doctors, holding onto their skepticism and listening to the nagging feeling telling them that something was missing.
Finally they found a neuro muscular doctor who did listen. She made sure Nico had thorough genetic testing and the results showed Glucose Transporter Deficiency Syndrome (GLUT1 DS).
Sadly, many doctors misdiagnose kid’s GLUT1 deficiency syndrome symptoms for simply epilepsy. Possibly leaving thousands undiagnosed.
“Basically, Nico’s brain was being starved of glucose (which is the brain’s main fuel) for the past 6 years!” Tina said.
Parents go through many feelings when their child finally gets the right diagnosis. For Tina and Fernando, the main feelings were a juxtaposition of happiness and sadness: Sadness because early diagnosis is key to a good outcome, happiness because they finally were on the right path forward.
Currently, the only way to treat GLUT1 DS and GLUT1 deficiency syndrome symptoms is by following the ketogenic diet. The changes were immediate and incredible. Instead of spending his mornings have seizure after seizure with mom helping him through every task of getting ready, Nico is able to get up on his own and go about his day like any other boy. The difference at school has been night and day!
So parents, listen up! Listen to yourself and trust your gut. No one knows your child better than you. If something doesn’t feel right, chances are something isn’t right. Doctors don’t know everything, despite what they might want you to believe. So trust yourself just as much as your kids trust you.
To read the whole story, check out Rico’s happy ending on RareConnect.org.
Share Rico’s story to your social networks to alert parents to never give up in trying to find their child’s diagnosis!
