Violet Fitzgerald, who is just 11 weeks old, has received an infusion of a gene therapy medication that costs $2.2 million for a single dose, which her family hopes will halt the potentially deadly condition she was born with.
The baby’s parents, Brooke and Dan Fitzgerald, were with her on Tuesday as medical staff at the Children’s Hospital of Philadelphia administered the gene therapy drug Zolgensma, which is considered the most expensive medication in the world.
Violet has type 1 spinal muscular atrophy, a genetic disorder characterised by weakness and wasting of muscles in young infants. If untreated, the life expectancy of a child with SMA is about 2 years.
Speaking after the family left the hospital Tuesday, mom Brooke told the Compass, “The infusion went well. … They had to put IV drips in both of her arms. And that was the hardest part, because obviously that’s needles in her little, little hands. … And then it was a 55-minute infusion attached to the IV. They had to check her vitals every 10 minutes to make sure her blood pressure was OK and her temperature was OK.”
While her mother and father watched and waited anxiously, Violet slept through the entire procedure, Brooke said.
The baby remained at the hospital for two hours after the drug was given, while medical staff monitored her vitals.
“But now we’re home with her,” Brooke said, adding that they’ll be keeping an eye on the baby to look out for reactions, like vomiting or fever. “She’ll probably be a little fussy for a while,” she said.
What’s next?
The family, who live in Prospect on Grand Cayman, are staying at accommodation in Philadelphia, where they will remain for the next three months, through follow-up hospital visits and physiotherapy sessions.
Now that she has received Zolgensma, Violet will need to take steroids every day for a month, and then be weaned off them over the following two months.
“We have to go in weekly for a month and then bi-weekly for two months after the first month for [lab tests], so they can monitor her liver enzymes and a couple other things. … So that’s why we have to get her blood drawn every week,” Brooke said.
One of the side-effects of Zolgensma is increased liver enzyme levels, so those must be carefully and constantly monitored.
Next week, Violet is due to see a pulmonologist, as well as a neurologist who specialises in spinal muscular atrophy, and this will be followed by weekly visits to a physiotherapist.
“We’ll stay here in Philadelphia for three months,” Brooke said, “and we do a lot of physio with her. We have to set up a little jungle gym so she can start to move her legs and arms more with straps.”
At this point, they don’t know when they will begin to see improvements in the little girl’s movements.
“The pediatrician told us sometimes you can see it within a week or two,” Brooke said.
So far, the baby’s breathing and feeding do not seem to be affected, as they can be in some newborns with SMA.
“It really just depends on the age of the baby and how the baby reacts, so we just have to wait and see, and make sure all her blood work is OK, make sure she keeps feeding well, make sure she keeps breathing well… Our worst fear is that something goes wrong with her breathing or her eating because that means she has to get hooked up to something.
“So we’re just hoping she improves from here and we start to see some kind of signs in the next week that it’s working. It should for $2.2 million.”
The earlier the condition can be diagnosed in babies and the earlier the drug can be administered, the more effective it is. In Violet’s case, as there is currently no requirement or standard practice in Cayman for newborn babies to be screened for SMA, she was not tested for the genetic anomaly until she was five weeks old. It took another two and a half weeks for the results to come through, and several more weeks before insurance could be sorted out to cover the astronomical cost of the medication she needed.
Eventually, CINICO and the Cayman Islands government agreed to cover the insurance cost.
“We lost a lot of time for her so we can’t really gain back what she’s lost,” Brooke said.
According to Novartis, the pharmaceutical company that manufactures Zolgensma, more than 1,600 babies worldwide have been given the drug since it was approved for children under the age of 2 by the US Food and Drug Administration in 2019.
Fundraising reaches more than $118,000
While Cayman’s national insurance company CINICO is covering the $2.2 million cost of the drug, it’s likely that Violet will face a lifetime of medical challenges and expenses. SMA severely impacts the development of muscles and nerves in babies. The drug can halt SMA, but it does not reverse the deterioration a baby may already have undergone.
To help cover expenses not covered by CINICO or the family’s private health insurance provider, a GoFundMe page has been set up to assist the Fitzgeralds with the costs they will face.
As of Tuesday evening, the total raised stood at £104,858, equivalent to $118,000.
“We are so thankful,” Brooke said. “And I can’t believe how many messages and words of support I receive daily. It’s so hard, I want to respond to everyone but it’s almost impossible. It is all so nice.”
She added, “It’s been absolutely incredible the amount of support we have received from the community and friends and family, and also people we don’t even know. We are so grateful and couldn’t have done this without the support we are receiving.”
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