A Michigan family is hoping their infant son can beat the odds after being diagnosed with terminal mitochondrial disease.
Michelle Budnik-Nap and her husband have been looking for treatments to potentially help their 5-month-old infant son, Russell “Bubs” Cruzan III, after he was diagnosed with a form of mitochondrial disease.
The infant’s diagnosis is a variation of the same condition that affected Charlie Gard from the United Kingdom, who died last month after his parents led a protracted battle in court to get him experimental treatment.
Budnik-Nap said her son appeared to be healthy when he was born, but the infant exhibited troubling symptoms just days later when he wouldn’t feed properly and became sick. The parents took him to the hospital where he ended up with an infection and was connected to a feeding tube.
“We realized that there was more than just feeding problems going on,” Budnik-Nap told Healthline. “They couldn't extubate him... it just wasn't really happening.”
After weeks of being in and out of the hospital with multiple complications, doctors finally diagnosed the infant with a genetic disorder called FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome.
The syndrome is one form of mitochondrial disease, where the energy centers of cells, or mitochondria, don’t function properly. If the mitochondria don’t function properly, it affects the amount of energy available for cells. Without enough energy, children — especially fast-growing newborns — face a host of symptoms from low muscle tone, to seizures, to delayed cognitive development.
There is no cure for the disease, and most children with the condition only live into early childhood, according to the National Institutes of Health (NIH).
“We had done some research because they suspected a mitochondrial disease,” Budnik-Nap said. It was “definitely devastating. Before the doctors told us, we knew there were no treatments for it.”
Budnik-Nap said the doctors gave the family some supplements, but essentially advised them to take their son home and enjoy the time they had left with him.
The family initially tried, but within days Budnik-Nap said they felt that they had to do something to try and help their child.
Looking for a new option
“We came across Charlie Gard's story, and saw that the parents were fighting for experimental treatment,” Budnik-Nap said.
The Michigan parents thought, “We can fight for this.”
Gard’s story made international headlines after his parents petitioned the U.K. courts to allow them to go to the United States for further treatment. Both President Trump and the pope weighed in on the story.
Gard, who had a slightly different type of mitochondrial disease and more pronounced symptoms, died at just under a year old. He did not undergo experimental treatment because the court and medical officials in Britain thought his disease had progressed too far for it to have any effect.
Bubs has a different form of mitochondrial disease and does not have as much brain damage as Gard. Budnik-Nap said they were inspired by Gard’s parents to look for other options or researchers who were investigating possible treatments for this disease.
Budnik-Nap stressed that their doctors at Bronson Children’s Hospital have been receptive and helpful in their search to find experimental treatment for their son.
Ethics of experimental treatment
Art Caplan, PhD, a bioethicist at the NYU Langone Medical Center, said compared with the United Kingdom, families in the United States will usually be allowed to try out experimental treatments as long as they can pay for them.
“We're more willing to let parents control care as long as it’s not harmful,” Caplan told Healthline. “The British have more of a doctor-oriented standard.”
Caplan explained doctors will usually let patients pursue treatment as long as it’s been shown to not be dangerous in humans, and there is some biological underpinning to how it might work. For desperate parents, however, Caplan said doctors will often have to discuss the case with them to explain why they shouldn’t pursue just anything they find.
“Doctors who are experienced are used to desperation… They'll try to talk people out of it,” said Caplan.
He explained that for truly experimental cases doctors will often remind the parents that a supposed treatment could ultimately cause their children unnecessary pain.
To help her son, Budnik-Nap is now talking to officials at Boston Children’s Hospital to see if her son could be given an experimental treatment, where a drug called dichloroacetate (DCA) is used to help lower lactate levels that can build up in the blood and spinal fluid due to mitochondrial disease. The hope is that lowering these levels could stop some of the symptoms of the disease.
Officials at Boston Children’s Hospital declined to speak about the case to Healthline. Budnik-Nap said they’re waiting to hear back from the insurance company, but are hopeful about the future.
“He's such a sweet, happy, smiley boy,” Budnik-Nap said.
She said they’ve already been surprised and delighted that Bubs has hit a few developmental milestones, and hope he will continue to outperform expectations.
“We were told he would never walk or talk,” Budnik-Nap said. But “seeing him meet some of these milestones like cooing and babbling at us and trying to sit up... definitely gives us hope that he's going to prove the doctors wrong.”