CLEVELAND — There are few things worse than being a physician who can offer no hope to a patient or their family.
But not long ago, when faced with a diagnosis of Spinal Muscular Atrophy, or SMA, parents were sent home with children who would often die before the age of two.
But medical miracles and advancing science happens and now there's a new therapy that seems to have flipped the switch on a once destined diagnosis.
For the first time, Jessica Burchett of Akron and Rebecca Mulhall of Cleveland are meeting face to face, but they've supported each other for more than a year.
Both have a set of twins, born a month apart. A state newborn screening test discovered all four have SMA type 1.
"We were actually about to get discharged when the doctors came in and said that they both came back for SMA on their newborn screening and had to be transferred to Akron Children's Hospital immediately. I know a friend I went to school with has a child with SMA and so I knew what that was and all I could think was my children, they're probably going to die," Jessica said.
SMA type 1 is considered the most severe and in the natural history of that disease, most children die by the age of two. If they do survive past that, they are very, very weak and typically dependent on a ventilator.
That's why Akron Children's Hospital pediatric physiatrist, Kathryn Mosher is in awe of these twins.
"Everybody, remembers the time when there was nothing we could do, we would tell the family the diagnosis and send them home with supportive care to love their child until they passed away," Dr. Mosher said.
SMA is a genetic muscle destroying disease. These children are missing a protein required for the survival of cells in the spinal cord responsible for movement. But a new gene therapy may have saved their lives.
"So this is the actual gene we're replacing what is missing and we're replacing the gene that creates the full length protein all of the time. So it's not a cure, but it's as close to a cure as we can have. And the reason that it's not a cure is because firstly, it doesn't integrate into your own DNA," Dr. Mosher said.
The game changing therapy is called Zolgensma and it's a one time infusion in children under age two. Akron Children's Hospital Neuromuscular Clinic is one of few places offering the therapy that carries a price tag of $2.1 million. It's critical to get these children diagnosed as soon as possible which is why the newborn screenings have been so valuable, but the road hasn't been easy. Because getting the children tested to see if they qualify for the drug and then insurance approval takes precious time these babies don't have. Because when the cells die, they're gone forever. But at least now there's hope.
Jessica's twins, Kali and Kaiden got the infusion at a month old. But Rebecca was terrified at first when it was time for Estella and Antonio, who also has Down Syndrome.
"Dr. Mosher's like, we only have one shot at this, like, that's it. That's all she said. And I swear that carries through. And it's not even just with the treatment, it's like if you only have one shot at this and it gives me chills just thinking about it because she saved my kids and, you know, all the team here, they did like wonderfully, but I wouldn't have been able to do it without them," Rebecca said.
Jessica says all they're trying to do now is live day by day and treat them as they would any other kid.
"And hopefully, you know, with this treatment, it really did stop any deterioration and they can live a full life from here," Jessica said.
The two sets of twins are four of ten kids treated with the gene therapy at Akron Children's. Both moms, and Kali and Kaiden's dad, William Ivery, get great joy watching their kids toddle around like any other fifteen month old would.
"Estella, she's feisty, she definitely has a voice in this world. She's walking, she's sitting up, I've heard her say Mama," Rebecca said.
Dr. Mosher and social worker Noelle Boso have watched these children thrive since the beginning too.
"It's amazing. when I think about the newborn screening being added, I remember we had those discussions about it getting ready to roll out, I don't think we ever had any idea of what that impact was going to be like, that we were going to be identifying babies in the NICU before they ever even went home, before they ever even showed their first signs of symptoms like we ever thought that was possible, and then be able to have a treatment to offer them. It's something I think in my almost 30 years of being in medical, social work, it's the most amazing thing that I've been a part of," Noelle said.
Zolgensma is the second therapy approved for SMA. The first was approved in 2016 but is a life long treatment. This therapy was FDA approved in 2019.
"It's absolutely miraculous. It's something that I think most of us in this space we have always dreamed of seeing, but we really didn't know for sure that we would ever get the opportunity to. The therapy has been transformational because this gene is relatively small. It was a great candidate for gene therapy because it can be delivered in its entirety and it can be delivered safely. And since we've had gene therapy, we've seen kids doing things that we never dreamed they would be able to do," Dr. Mosher said.
This Wednesday Akron Children's Hospital will celebrate the 15th anniversary of the Neuromuscular clinic.
The providers treat children with various forms of muscular dystrophy (Duchenne’s, Limb-Girdle, congenital), spinal muscular atrophy, Charcot-Marie-Tooth disease, myotonic dystrophy, congenital myasthenic syndromes, Pompe disease, and McArdle disease.
The roots of the program began in 2006 when Dr. Kathryn Mosher joined Akron Children’s as one of two pediatric physiatrists in what was then called the Neurodevelopmental Center (NDC).
“In our 15 years we have literally watched history being rewritten on some of these diseases and we look forward with enthusiasm to the further progress to come,” she said.