In the last couple of years, Ted struggled to walk. His mom took him for physical therapy and had him diagnosed with tight hamstring muscles. He had a heart arrhythmia and spent the day as an outpatient receiving, at just 18 years old, a heart ablation. His eyes were troublesome and his visited two ophthalmologists who sent him for eye exercises. Then his speech started slurring and his mom realized that there were too many things happening. She saw two different neurologists who would send him for a battery of tests.
I sat with them as a doctor spoke about doing spinal and other invasive procedures. He wanted to “rule out” certain diseases – but why, I wondered, can’t someone just figure out what this is?
Ted’s mom, though exhausted from working full time and visiting doctor after doctor and bringing Ted for eye therapy, physical therapy and taking him out nightly for walks because of his fear that his legs would give out, wouldn’t give up. The final doctor, a neurologist did a blood test, and found that Ted has Mitochondrial Disease which results from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. When they fail, less and less energy is generated within the cell.
Ted’s mom and I talk about why it took so long for Ted to be diagnosed. Was he being “mis” diagnosed? Was there a breakdown in communication? Why couldn’t the ophthalmologist find the problem or the first or second neurologist? There is so little that can be done for Ted. He works hard to keep walking and is determined to stay out of a wheelchair. He is a brave young man who is fighting with every breath he takes. Ted wants to be independent but accepts help, and even seems to, at times, enjoy the attention. It makes it easy to love him. He allows us to love him. He has taken up a piece of my heart with every deep conversation about his future he allows me to look deeper into his soul as well as my own.
I keep thinking that it was his mom who pursued a diagnosis. He would have been dropped if not for the work she did to keep records together and compare notes. Ted’s pediatrician didn’t do that. It is up to us, the patient and the patient’s family or even friends to step up and help or we would all get lost in the system that would gobble us up and spit us out like another number we pull out of the machine at the deli counter.