Reporter for The Canyon Weekly
When Jordan Medeiros – a hospice nurse from Scio – was 20 weeks pregnant with her first child, an anatomy scan showed that the left side of her son’s brain was enlarged. Subsequently given the diagnosis of ventriculomegaly – a problem that occurs in an estimated one percent of pregnancies – Jordan and her husband, Cody, embarked on a round of testing.
“We did pretty much everything they recommended,” Jordan said, recalling the eventual prognosis – that the baby had approximately an eight percent chance of severe impairment but beyond that…doctors simply could not say.
“We expected he would be behind,” Jordan said of the months following their son Lincoln’s birth in January 2021, “which he was, but not overly.”
Then, at six months, Lincoln’s outlook began to change. His head growth began to slow, leading to a diagnosis of microcephaly – a condition that often affects brain development. An MRI scan at OHSU revealed more and deeper crevices in his brain and doctors began looking further afield for a cause.
“They said, maybe we should do genetic testing,” Jordan remembered.
What they discovered came as a shock to everyone – including Lincoln’s doctor.
“The neurologist was like, ‘I’ve never heard of this,’” Cody recalled. “He said, before you came in, ‘I Googled it.’ And we were talking to the lead neurologist at OHSU!”
But it didn’t take long for the couple to find out why the test results had given the doctor pause. Diagnosed with spastic paraplegia 50 (SPG50) – a slowly progressing neurologic disorder that affects speech, head size, motor control and muscle tone – Lincoln became only the one hundredth person ever known to inherit the disease.
“It’s a degenerative condition and it’s not just physical, it affects mental [capabilities] as well,” Jordan said. “It starts with low [muscle] tone in infancy – Lincoln had really low core tone – and progresses to tightness and paraplegia,” usually by age 10.
“We’ve been fortunate with Lincoln, his symptoms are mild,” Jordan continued. But at the age of three, Lincoln is already being fitted for the braces that might one day be necessary for him to continue walking.
“You don’t think about genetics,” Jordan said, referring to the enormous improbability that both she and Cody would be carriers of gene mutation that causes SPG50, and that Lincoln would inherit both copies of the gene.
“It’s extremely rare odds,” she said. “He had a 25 percent chance of inheriting the same mutation.”
It’s the same chance his sister, Kennedy – only a few months old when Lincoln received his diagnosis – had. But, fortunately, testing has since shown that she is only a carrier.
“But how many other families are going through something similar…?” Jordan wondered.
It’s a question that is difficult to answer with only three other children – two of them siblings – currently diagnosed with the disorder in the United States.
“The advice was to get on Facebook and get on groups,” Cody said, recalling the guidance they received after receiving Lincoln’s diagnosis. “But they’re small groups.”
And they all led to one person, Terry Pirovolakis, a Canadian systems engineer who, when his son, Michael, was diagnosed with SPG50 on April 2, 2019, quit his job, raised $3 million and began searching for a cure.
“He went to a convention for orphan diseases – conditions so rare they can’t get pharmaceuticals to research it,” Jordan said. “Then he made a ‘wanted’ sign and found the world’s top researchers.”
With the help of an international team of doctors and scientists, Pirovolakis created Elpida Therapeutics – a nonprofit whose name means “hope.” In a matter of months the team accomplished what had previously seemed impossible, they developed a gene therapy drug for SPG50 – which they coined Melpida in honor of Michael. On March 24, 2022, he became the first person ever to receive the treatment.
“It’s mind-blowing, what he’s done,” Jordan said. “Because so far, the results are promising. They notice less spasticity and his muscles are relaxing.”
Still in the clinical trial stage, Melpida is just one of five Elpida therapies the company hopes to roll out in the next five years.
“The concept is you get a good copy [of the AP4M1 gene] to slow it down,” Jordan explained. Because there are 80 subtypes of the disease, the development of therapy could potentially help much more than just the current SPG50 diagnosed population.
“There’s a whole gamut of conditions related,” Cody confirmed.
But for now, the focus is on SPG50, with two additional children receiving treatment thus far and Lincoln hoping to be the third.
“Time is not on our side,” Jordan said.
Which is why the couple created a website, www.lincolnslight.org, with information about SPG50 and ways to help.
“Research and drug development is an expensive, lengthy process,” Jordan wrote on the website. “It is difficult to obtain funding and support from large pharmaceutical companies as ultra-rare diseases are seen as a market that is not financially beneficial. For perspective, one dose of Melpida costs $250,000 to $300,000 to manufacture.”
With the company hoping to roll out eight to 12 doses of the drug in the next trial, the need for funding is high.
“We want to keep this trajectory moving forward,” Jordan wrote. “We don’t want Lincoln, or any other child with SPG50, to get left behind.”
To donate or find out more information about SPG50 and related disorders, visit www.lincolnslight.com, email [email protected] or call 509- 557-2235.
