The Short of It
Whitnie Strauss knew something was wrong with her young son, Reid, but she couldn't get any answers. Thankfully, this mother kept asking. After visiting 20 doctors, she finally got a diagnosis for Reid's rare condition.
"I just think it's so important not to give up, not to stop looking just because you've had door after door slamming in your face," is this brave mom's advice to other parents who are trying to find out what is ailing their children.
Reid was 2 years old when Strauss began her quest to find out what was causing his bizarre set of symptoms. He stumbled a lot when he walked. He wasn't developing like he should.
Countless doctors misdiagnosed Reid, saying he was suffering from autism, an immunodeficiency or assorted other common afflictions. But then Strauss met Dr. Michelle Holick, a pediatric neurologist at Texas Children's Hospital in Houston, who she says took the time to examine her son fully, running test after test.
The scary diagnosis? Reid had creatine transporter deficiency, which means creatine is not able to reach his brain, depriving it of essential energy. Sadly, there's no cure for the now 4-year-old's condition. But this tireless mother is relieved to know what is really wrong with her little boy.
"You're hearing this terrible news, the worst news of my life. But this weight is lifted because finally that burden of looking and trying to understand what's going on has been lifted," she says.
Despite the crushing blow of learning Reid will not improve and knowing that little is understood about creatine transporter deficiency, Strauss says he's not declining in health, for which she feels grateful. He has trouble communicating and can be stubborn about cooperating. Still, he is a happy little boy. And his mother wants to use their experience to inspire other families in their situation.
"Listen to your instincts and that gut feeling. Parents know," she says.
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