When a doctor says it’s necessary to do a lumbar puncture on your two-year-old son, momma bear instincts kick in.
Health News Digest reports that’s what doctors recommended when Lisa Moore’s young son, Brennan, wasn’t developing in the ways that other children were. When Brennan was 15 months old, he wasn’t taking his first steps or meeting other developmental milestones.
Calling it one of the most difficult things she’s had to endure as a mother, Moore knew she needed to accept that something was causing Brennan to act differently than other kids.
But it was his slow progression and a new symptom (an awkwardly hanging arm), that encouraged Brennan’s parents to find a doctor and neurologist. And within two minutes of meeting the neurologist, he was able to determine an issue.
Health News Digest describes the somber news from the doctor, “Your child has dystonia,” the neurologist said. “We need to do a lumbar puncture.”
Mayo Clinic describes a lumbar puncture, or spinal tap test, as a procedure which the operator sticks a needle in the gap between two lumbar bones to extract cerebrospinal fluid. The test confirmed the news that his parents tried to resist hearing, Brennan’s diagnosis of Glut 1 Deficiency Syndrome (GLUT1 DS), a low-glucose disease that only affects 1 in 90,000 births.
Now diagnosed, the Moore’s were ready to do anything they could to help Brennan reach his full potential, including taking time to be thankful for the diagnosis. The Moore’s discovered that many Glut 1 patients suffer because their condition is misdiagnosed or goes undiagnosed. Why? Because many children with Glut 1 experience seizures, so doctors commonly diagnose them with epilepsy.
But thanks to Brennan’s swift diagnosis, his symptoms are manageable.
We urge that all mothers show the same sense of urgency as Lisa did as they search for their child’s rare disease diagnosis.
If you’ve heard stories like Lisa and Brennan’s occur far too often, share this article to spread the importance of seeking a diagnosis. Doctor’s are very smart, but sometimes you have to go above and beyond to find answers for yourself.