Can you imagine your toddler son having to get a lumbar puncture in order to be diagnosed with a condition that, despite the fact that you’ve never heard of it, he’ll have to live with for the rest of his life? Yikes!
That is exactly what happened to this young mother.
Shortly after the lumbar puncture, her son Brennan, was diagnosed with Glut1 Deficiency Syndrome (DS), which means Brennan’s brain wasn’t getting enough glucose, leading to delays in development and seizures.
Brennan’s diagnosis is thanks in part to his mother’s keen intuition. She had known something was wrong with her son, and she wasn’t going to walk away without answers.
Not every child is fortunate enough to get a diagnosis so fast, specifically for a rare disease like Glut1 DS.
The fact is… Your child can only speak up for themselves so much. As their parent, you hold the cards in terms of their health, so use that authority!
If you notice changes in your child’s health, no matter how small, let your pediatrician know. If he/she doesn’t seem concerned, get a second opinion just in case.
Misdiagnoses happen far too often. But because Brennan avoided a misdiagnosis (thanks, Mom!), he’s now thriving, enjoying all the things little boys do.
Here are some of the signs and symptoms of Glut1 DS:
- slow speech
- trouble learning
- mental disorientation
- fatigue
- spasticity
- hypotonia
- paralysis
- trouble being social
- short attention span
