Texas mother's gut instinct and persistence leads to rare diagnosis for toddler son


© Reid Strauss

Reid Strauss was diagnosed with creatine transporter deficiency, but it took visits with 20 doctors before he was diagnosed



A Texas mother suspected something was wrong with her toddler son when she saw him stumbling around the backyard. Instead of ignoring this and other symptoms, Whitnie Strauss reportedly brought her two-and-a-half-year-old son Reid to a doctor - and then to 19 more doctors - until he was finally diagnosed with a rare disorder.

Strauss says she refused to believe her son's problem was an allergy, autism, a seizure disorder, a gastrointestinal problem or an immunodeficiency, reports Yahoo! News. Instead of accepting doctors' suggestions, the mother of three reportedly drove two hours with Reid, from outside of Austin to Houston, to get him to an emergency room.


After spending two days at Texas Children's Hospital, a pediatric neurologist named Dr. Michell Holick said she wanted to work with the family to figure out what was making Reid sick.


Holick ran a series of tests and confirmed that Reid was suffering from a rare disorder: creatine transporter deficiency. Creatine reportedly provides the body with energy, but Reid's disorder prevents his brain from receiving creatine - and there's no cure for it.


"You're hearing this terrible news, the worst news of my life," Strauss said. "But this weight is lifted because finally that burden of looking and trying to understand what's going on has been lifted."


Reid is now 4 and, while he has "limited speech," his mother says he is happy and "feisty." His condition is not expected to get worse and he is "leveling out," according to Holick.


Strauss says she hopes her story serves as an inspiration to other parents dealing with similar health scares.


"Listen to your instincts and that gut feeling," Strauss said. "Parents know. For us, it took 20 different doctors before we stumbled upon the one at Texas Children's, who for whatever reason dug deeper than all the others ... You never know when you're going to open the door and your Dr. Holick will be standing there."


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