Mother Finds Diagnosis for Son – Doctors had not been able to Determine after a Battery of Tests

This is an example of being the informed patient or I should say the informed mother of the patient. Video at the link. The physician from the Cleveland Clinic gives Mom all the credit as he had never seen the disorder. We are all overloaded today with so much information that it really helps to have researched some of your own information. She did the right thing in discussing with a physician after she had done some pretty extensive research, and I would guess some of the tests that her son had gone through may have also help direct her too.

Good story on how her son is out of the wheelchair and back to living like a normal boy with the doctor giving the go ahead to try the medication for his condition, dopa responsive dystonia. Dystonia is a dominantly inherited condition and is difficult to diagnose and sometimes symptoms can resemble those of other neurological disorders. There has also been some success with using Deep Brain Stimulation for those who suffer. BD

The first signs that something was wrong with 11-year-old Connor Teare came when he was a toddler. His muscles were growing increasingly rigid and becoming more difficult to move. He went from leg braces to a walker and, finally, a wheelchair by the time he was 5.

"I tried to walk like the other kids ... I just couldn't do it," said Connor, who lives with his family in Burton, Ohio.

His mother, Cynthia Teare, brought him to a dozen different doctors but none could figure out what was wrong.

"I'm scared," she said. "I'm frightened and trying not to let him see that I'm frightened. But inside, the biggest thing was we didn't know what it -- what diagnosis it was. Nobody knew what he had.

Teare spent months scouring the Internet for answers and, finally, came across an exceptionally rare disorder she thought might explain Connor's condition. She wrote to a prominent pediatric neurologist, Dr. Irwin Jacobs at the Cleveland Clinic.

Jacobs said Teare's letter left him stunned. "I mean, here's somebody suggesting a disorder, and I've never seen this disorder," he said.