Cheryl and David Porter have five children and live in Atlanta, GA. In 2009, their middle son David was finishing up his second year of college when he began to experience vision problems and dizziness. After visits to many doctors, a neurologist requested an MRI that showed lesions on David’s brainstem.
Within two months of his initial symptoms, David was diagnosed with Leigh syndrome, Surf 1 mutation and given no hope for a future. David worsened tremendously in a short time and was confined to a wheelchair. He could no longer walk, see or take care of his most basic needs. His parents’ world and his was turned upside down.
At the time, the only treatment available was the Mito cocktail, and David began the regime of CoQ-10, L-Carnitine and B vitamins. After further testing, it was discovered that David had a cerebral folate deficiency, and the drug Leucovorin was added.
After six months of Leucovorin and the Mito cocktail, David began to regain his eyesight and some mobility. He learned to walk again, although quite unsteadily, and could help take care of his basic needs.
While David was showing improvement, his family was told that a virus or stress to his system could cause the lesions to grow resulting in another Mito crash. Although they were very grateful for David’s progress, they felt like they were walking on eggshells waiting for the next crash.
They also struggled with grief for the person they lost. The lesions in David’s brain had affected his personality to the point that he was and is no longer the same person.
Although they were told in the beginning that nothing could be done, Cheryl began to hear about a new drug going through a Phase 1 Clinical Trial by Edison Pharmaceuticals called EPI-743. David did not fit the protocol for the trial because he was too old. However, in 2013, it was decided that David could receive the trial drug on a “Compassionate Use” basis. His family was elated! At last, a tiny degree of hope.
In March 2013, David received his first dose of EPI-743 at Stanford Medical Center in Palo Alto, California. His dose was doubled six months later and he continues on that same dose today. EPI-743 proposes to increase the glutathione uptake in the brain. After the first 13 weeks, his nuclear brain SPECT showed significantly increased uptake.
Today, David continues to take EPI-743, Leucovorin, L-Carnitine and B Vitamins. He is able to exercise, giving him increased strength and stamina. Additionally, he is able to endure longer periods of time walking and standing - things that he could hardly do a tall before.
The one skill that he desires the most, however, is the ability to drive. David is not able to drive due to his neurological condition and, without significant changes, will never be able to. This is the number one factor that affects his life. In an ideal world, he would love to be able to drive again.
David’s family continues to fight for better treatments and ultimately a cure.
“We always try to remember that David is doing better than any medical professional ever promised and we can see that where there was no hope for a future, there just maybe,” said Cheryl.