JACKSONVILLE, Fla. — The parents of a six-year-old Jacksonville boy are fighting to get their son an experimental medication that they say could give him several more years to live.
Timothy Donohue has a rare, neurological disorder called Leigh Syndrome. Without this medicine, his mother says his days are numbered.
“Timothy, he's a light wherever he goes," Jamie Donohue said. "He has a smile. He understands what we're saying, you know. "And he brings joy to everybody that he meets. He wins everybody over with that big grin and you know we would like to see it around as long as we possibly can. That's been our goal, to give him the best quality of life that we possibly could.”
Jamie Donohue didn't give birth to Timothy, but she has raised him since he was a baby. She fell in love with him when he was five-months-old. She and her husband were his foster parents and eventually adopted him and his two brothers. At the age of two, Timothy was diagnosed with Leigh Syndrome. Since then they've watched the progressive disease take away his ability to walk and weaken his muscles.
“His diaphragm is weakening, and we've experienced about five times in the past month and a half respiratory distress, and he's had to be taken to the hospital,” Jamie Donohue said.
Timothy is now getting hospice care. His mother is holding out hope a drug called EPI-743, which is showing promising results in clinical trials, can give him several more years to live so he can grow up with his brothers.
“Without it, he doesn't have the opportunity that he should have," Jamie said. "His brothers deserve for him to be able to have this medication and to make more memories and to prolong his life."
The drug is manufactured by a small, private company call BioElectron. It has not yet been approved by the FDA.
“There is a compassionate use bill that's been signed, and it is for people who are deemed terminally-ill and it's supposed to give them access to any drug that is currently in a drug trial and not FDA approved, but we're being told by this company that it's not available,” Jamie said.
BioElectron CEO Dr. Matthew Klein says his company is no longer enrolling children in its Compassionate Use Program because it's focused on clinical trials to help get the drug approved and available to all of the children who need it.
“I can tell you I get letters from hundreds of parents a year telling me the story very similar to Mrs.Donohue that their child is at the end of life," Klein said. "'There are no treatments available, and there are no options available' and can we 'please help.' This not only saddens us but actually invigorates us to continue working as hard as we are to try to get a drug to all of these families. The way we do that is doing the clinical trials that need to be done so we can get FDA approval of the drug.”
Right now he says all of the drug supply that exists is allocated for the patients currently getting the treatment, but Timothy's family is not giving up their fight.
“We feel like without it, you know, he might not be here much longer," Jamie said. " We're going to continue to petition whoever we need to petition until we get this medication for him. Not just for Timothy but for anybody else who is terminally ill and needs a medication that is in trial. We have a law and it needs to be to where it works because right now it's a law that means nothing and means nothing for Timothy because he can't get something out there that could potentially benefit him and save his life or prolong his life.”
Last year President Trump signed the Right to Try Act into Law giving terminally-ill patients access to drugs in clinical trials, but there is no funding set aside. Ultimately, it’s up to the drug manufacturer to decide whether patients can get the medicine, and in this case the company says it just does not have the supply to give Timothy the medication.
First Coast News reached out to Senator Marco Rubio and Senator Rick Scott along with Congressman John Rutherford and Congressman Al Lawson's Offices. They have all been in touch with Timothy’s family to see if they can help.
In the meantime, you can follow Timothy’s journey on his Facebook page Prayer Warriors for Timothy.