Betty Vertin worries that it won’t be long before she sees the progress earned by her three sons erased.
Her boys will soon get weaker as their muscles deteriorate from the effects of Duchenne muscular dystrophy, a progressive genetic disease that mainly afflicts males and will eventually rob Max, 11, Rowen, 7, and Charlie, 5, of the ability to walk, breathe and care for themselves.
The Food and Drug Administration decided last month to refuse to review clinical data from PTC Therapeutics, the company developing the clinical trial drug that had given the Vertin family hope.
“I’m angry and I’m scared,” says Betty, 36, a homemaker from Hastings, Nebraska, who has one other son unaffected by the disease, and two daughters. “I’m afraid that this is going to be the beginning of the end. It’s terrifying.”
The FDA denied the application because trial results were considered “incomplete,” and now the drug manfucturer is appealing the decision. While her boys have been taking Translarna, the only drug shown to slow Duchenne symptoms (it is widely available in Europe), Betty and her husband Jason, a truck salesman, saw remarkable improvement, especially in Max, who was able to run, bicycle and ride a scooter while on the drug for more than two years.
“Unless something drastic happens in the next year, he will likely be in a wheelchair by his next birthday,” Betty tells PEOPLE. “It’s devastating to lose the drug that was our only hope. It was the only thing giving me more time with my children.”
In response to PEOPLE’s request for comment, a spokesperson for the FDA says they are unable to “provide details about investigational drugs or pending new drug applications.”
“The FDA recognizes the unmet medical need in Duchenne muscular dystrophy, the devastating nature of the disease for patients and their families, and the urgency to make new treatments available,” the statement continued. “We will continue to work with companies and the patient community to facilitate development and approval of safe and effective treatments for DMD. The FDA is committed to carefully considering development plans for DMD drugs at the earliest stages.”
The Vertin family’s journey with Duchenne muscular dystrophy (DMD) — a disease striking about 1 in 5,000 males at birth — began more than a decade ago with Max, who was diagnosed at age 4 when he wasn’t meeting most of his developmental milestones in preschool.
A physical therapist suggested that the Vertins take Max to get a blood test because he showed many of the symptoms of DMD: large calf muscles, walking on his toes, frequent falls and difficulty getting up off the floor.
Hearing that their son had tested positive for the disease was devastating, but more bad news was to come. Betty noticed that Rowen, then 2, had difficulty climbing up and down from the stool he used to brush his teeth. Pregnant with Charlie at the time, Betty had him tested. The results again were positive.
Then when Charlie was born and had difficulty lifting his head, “I just knew that he also had it,” she says. “Within a one-year period, half of our family had Duchenne. It was crushing.”
“It was like the air was sucked out of me,” adds Jason, 37. “When the doctor says, ‘Our family will be praying for you,’ you know it isn’t good.”
For months, the Vertins grieved, knowing that their boys’ limbs, hearts and lungs would eventually weaken and that they would likely not live beyond their mid-20s. Then they realized that crying and worrying was not the answer. Instead, they would focus on doing whatever they could to slow down the disease’s symptoms and keep their sons as happy and comfortable as possible for the rest of their lives.
“I would call it surviving more than coping,” says Jason, “but as much as you want to be depressed and closed off to the world, you can’t. We decided to take it one day at a time and not take the little things for granted.”
When Betty learned about the Translarna clinical trial in 2014, she immediately got Max signed up. Later, when her other sons became eligible to participate, Rowen and Charlie received the medication, too.
“I knew it wasn’t a cure,” she tells PEOPLE, “but I thought that it would buy us more time. And it did. We saw some good progress.”
While in the trial, the brothers have made frequent trips to the hospital for blood draws, with the two oldest always offering encouragement to Charlie, telling him, “It’s okay — be brave, it’s not so bad.”
“They have each other, and that’s helped — they each know what the others are going through,” says Betty. “They don’t have to feel alone.”
“The family’s determination to fight this disease so that these three boys will have a brighter future and outcome is such a great inspiration,” adds the Vertins’ neuromuscular physician, Brenda Ly Wong. “Facing a death sentence for a life span of 20 years is unimaginable. Their smiles and positive spirit bring great joy to all.”
Although angry that the FDA refused to review Translarna, “We’re going to try and stay positive for our boys,” Betty says. “When I think about this rare disease, I want to picture my sweet boys growing into courageous young men. There is still hope and beauty in life and we’re going to find it.”