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The coronavirus pandemic has unhinged life as we know it in nearly every aspect, including how women give birth. Welcoming twins in March, just at the start of nationwide lockdowns, was anxiety-riddled for Kathryn McBride, of Wellesley, Mass., to say the least. Then, just days later, one of McBride’s newborns, Conor, was diagnosed with a leading genetic cause of infant death: spinal muscular atrophy (SMA), a rare genetic neuromuscular disease.
“The same day my area started to shut everything down was the day I gave birth. Everything was in flux. Rules were not set in stone at the hospital. My husband was able to attend the birth itself, so that was a positive. I was able to spend one day with him after. But after that I was alone. Being so isolated was one of the hardest things I’ve ever done,” McBride, 43, recently recalled to Fox News.
“I’d just given birth, I’d just heard about Conor, and I could barely leave my hospital room because of COVID," the new mother said. "That was especially difficult because I couldn’t take my mind off all of this by going for a walk. I was also bedridden due to high blood pressure.”
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Twins Conor and Tierney. (Kathryn McBride)
McBride gave birth at 34 weeks to twins Conor and Tierney on March 10, just one day before the World Health Organization officially declared the novel coronavirus outbreak as a pandemic. McBride said she learned of Conor’s diagnosis following a newborn screening at Newton-Wellesley Hospital. Massachusetts is one of just 32 states that screen for SMA, which was added to the federal Recommended Uniform Screening Panel (RUSP) for newborn screening in 2018, according to the patient advocacy organization Cure SMA.
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Learning of her son’s diagnosis was “brutal,” said McBride.
“I didn’t even realize the impact that it could have. I knew that babies are tested for different things when they’re born, but you don’t think too much about it. In fact, Massachusetts only has a pilot program for testing SMA as part of its newborn screening program – it’s not fully implemented. You have to proactively opt-in for the newborn screening. I’m so lucky that I did,” she said.
“The more information you get, the scarier it is. They were afraid I would pass out— I had an anxiety attack and was shaking. They were prepared for that. I was physically knocked to the ground. I even needed a wheelchair to get back to my room. My husband wasn’t with me at the time. He had to find out over the phone,” she continued.
Conor was then transferred to Massachusetts General Hospital for Children, where he was put under the care of Dr. Kathryn Swoboda, a neurologist and geneticist who focuses on motor disorders with childhood-onset.
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Conor was diagnosed with SMA just days after his birth. (Kathryn McBride)
“SMA is a recessive genetic disorder that results in the degeneration of motor nerves. Affected babies develop progressive muscle weakness and trouble breathing and swallowing, with onset within the first few weeks after birth,” Swoboda explained to Fox News. Although rare — SMA occurs in about 1 out of every 10,000 births — it “remains a leading genetic cause of death in infants worldwide,” she said, noting the diagnosis is made with a simple blood test.
SMA is a recessive disorder, meaning if both parents are carriers, each child has a 25% of inheriting the disorder. For fraternal twins like Conor and Tierney, each twin has a 25% chance of being affected, explained Swoboda. (McBride said it was the “luck of the draw” that neither Tierney nor her older son Jack, 3, were diagnosed with the disease.)
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“Most infants who have SMA appear normal at birth, but more than half of all affected babies present with symptoms by 6 months of age. The sooner treatment is started after birth, the more likely that child is to develop normally. Untreated infants develop paralysis due to death of motor neurons, and recovery of function after symptom onset is less likely to result in normal development,” she added, noting there are currently three molecular or gene therapies for SMA, which are used to treat SMA patients “of all ages and disease severity.”
“However, the true power of these therapies are most evident in newborns treated before symptoms develop. This newest generation of SMA children are now indistinguishable from their peers as they grow into a healthy, happy toddler,” said Swoboda.
Thankfully, Conor was able to receive treatment for SMA and currently remains pre-symptomatic.
“Conor was pre-symptomatic at the time of his diagnosis and he still is. We hope he stays that way,” said McBride. “I think of Conor as a 'new breed' of a child with SMA. He was, at the time, one of the youngest pre-symptomatic babies with SMA Type 1 to receive one treatment and then another.”
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“I’m hopeful that he continues to thrive after treatment and it stays that way. We take things day by day. We have him going through occupational therapy, physical therapy, and are making sure he stays healthy and moving. We need to make sure his muscles stay strong. And we treat him like a normal child who doesn’t have a genetic condition,” she continued.
“Ever since Conor received treatment, he appears to be a ‘normal’ child. You would never know anything is wrong with him. He has no signs of muscle dysfunction. He keeps up with his sister. He hits his developmental milestones. He keeps his body straight up, looks up and down, reaches for things. He has no issues with eating. It’s amazing,” added McBride, noting that Conor’s doctors and physical therapists are “thrilled with how he’s doing.”
Still, questions remain for McBride and her husband, John, 42, like how long the treatment will remain effective and keep symptoms of SMA at bay.
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Thankfully, Conor was able to receive treatment for SMA and currently remains pre-symptomatic. (Kathryn McBride)
“I don’t know where we go from here. Will it be his whole life? For a few years? We cannot really know what his future will look like going forward, but we know it would have been a devastating outcome had he not been treated,” said McBride.
“That uncertainty is difficult as a parent. No one can tell me, ‘He is going to be OK until one set date and then we’ll give them something else,’ It’s almost like a science experiment. It’s scary, but these medical breakthroughs make it exciting as well.”
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The experience of giving birth during the onset of a global pandemic and learning of Conor’s SMA diagnosis was overwhelming, but McBride said she has learned more about her own strength and resiliency.
“Getting through something like this makes you stronger,” she said. “These experiences benefit you in the long run because they help you be a better person. But going through it is awful. You must try to remember that this will pass, and you will be better for it, and so will your family. That is what matters.”
The mom of three also offered advice to any parents who learn of an SMA diagnosis in their child.
“If you receive a diagnosis, do not Google anything until you talk to a specialist. Trust your specialist and the medical community to do what’s best for your child,” she said, stressing that “time is of the essence with SMA.”
“Let your medical team help you. As a parent, you’re in shock and disbelief, but this is so serious and the timing is so critical for these babies, that if your doctors have a recommendation, trust that they’ll do the right thing,” she added, encouraging parents to “be an advocate for your child.”
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“Parents and doctors need to hear Conor’s story. People need to get screened and every state needs to pass these newborn screening laws and then implement them immediately. To me, it’s a no-brainer. Not having the screening, and then finding out that your child has SMA six months in, is devastating. People should also know about what it means to be a carrier. It’s not just the parents — their siblings and families need genetic testing too,” she recommended.
Finally, McBride advised mindfulness in the wake of an unsettling diagnosis.
“It’s as easy as taking one minute to look at something with complete objectivity, without judging it. There are two sides to everything. Your child with SMA will be so much more empathetic to people because of what they’ve been through. They’ll be so much stronger, physically, and mentally. They’ll be so appreciative of every day they live and won’t take it for granted,” she said. “There are so many perspectives they can bring to the world that are so positive.”