Connor Brooks was brought into the world as a seemingly healthy baby to parents Kayla and Steven and three-year-old big brother Liam on April 7, 2021.
“He was a healthy baby, good pregnancy, healthy delivery,” said his mother, Kayla. “After he turned a month old, he started fighting me when taking the bottle.”
This went on for about a week when Brooks began to worry. It was Memorial Day weekend, meaning the office was closed, but Brooks rushed to the pediatrician as soon as she could the following Tuesday.
“I thought maybe he had an ear infection or something was hurting him in his throat,” said Brooks. “So, we went in because the next week he had his two month shots, and I didn’t want any infection or fever holding that up.”
They doctors noticed immediately that Connor’s muscle tone was very low for his age, and he was immediately admitted to PRISMA. Soon after, they narrowed their diagnosis down to SMA.
SMA stands for Spinal Muscular Atrophy. According to the Muscular Dystrophy Association, SMA is “a genetic disease affecting the central nervous system, peripheral nervous system, and voluntary muscle movement.” This disease is categorized based on the age in which a patient is diagnosed: with higher ages being subject to much less severe symptoms, and infantile symptoms being much more severe. Below is a brief description of symptoms caused SMA provided by the Muscular Dystrophy Association:
“The primary symptom of chromosome 5-related (SMN-related) SMA is weakness of the voluntary muscles. The muscles most affected are those closest to the center of the body, such as those of the shoulders, hips, thighs, and upper back. The lower limbs seem to be affected more than the upper limbs, and deep tendon reflexes are decreased.4
Special complications occur if the muscles used for breathing and swallowing are affected, resulting in abnormalities in these functions. If the muscles of the back weaken, spinal curvatures can develop.
There’s a great deal of variation in the age of onset and level of motor function achieved in chromosome 5-related SMA. These are roughly correlated with how much functional SMN protein is present in the motor neurons, which in turn correlates with how many copies of SMN2 genes a person has. Sensory, mental, and emotional functioning are entirely normal in chromosome-5 SMA.
Some forms of SMA are not linked to chromosome 5 or SMN deficiency. These forms vary greatly in severity and in the muscles most affected. While most forms, like the chromosome 5-related form, affect mostly the proximal muscles, other forms exist that affect mostly the distal muscles (those farther away from the body’s center) — at least in the beginning.”
“We had to wait a few days to get the blood work back, so we got the official diagnosis on June 9,” said Brooks. “It took almost a month to then get the treatment drug that he needed.”
The treatment drug that Connor needed was Zolgensma, which is a gene-altering drug. Zolgensma was approved by the FDA in 2019, and is the first gene-altering therapy for neuromuscular disease. It can only be used on patients under the age of two, and is administered only once intravenously.
However, before they could get that drug, they had to go through a lengthy and tedious insurance process. Put frankly, Zolgensma is not cheap. In fact, when Zolgensma was approved by the FDA in 2019, it immediately took the top spot as the most expensive drug in the world, and has remained their since with a one-time price tag of $2.125 million dollars.
The young couple spent almost a month waiting on the phone to ring and running back and forth between their insurance company and medicaid, trying to find a way to attain this drug for their child. After that period of time, however, Connor received the treatment on July 2.
“It stops the progression of the disease by replacing that missing gene, and basically saves his life,” said Brooks. “Without that, or any kind of treatment, babies with this disease don’t live to see their second birthday.”
Only a few days after receiving the treatment, the couple has definitely noticed some major improvement.
“He’s been doing well so far,” said Brooks. “We are currently back in the hospital, but that is mainly to help him get stronger and eat more so that we can hopefully see even better effects of the medicine. Since he’s gotten the infusion, we have noticed him moving his arms significantly more, so we are hopeful.”
The road still won’t be easy Connor, however. He will likely require expensive therapy and equipment well into his adult life, and he may never be able to walk, but Brooks has found hope despite this. Hope in helping the next family.
In South Carolina, newborn testing for SMA is not currently mandated, Brooks wants to change this.
“We had no idea what this was,” said Brooks. “Our state is one of the fourteen states where they do not test for this on the newborn screen. So, if this state were to mandate it, we would have found out within two weeks of him being born, and we would have been way ahead of the ball game.”
Without this test, parents have to just wait for symptoms to appear, and by that point the disease has already began to grow. Shortly after diagnosis, Brooks got in touch with a mother from Mississippi, a state that does mandate testing for SMA.
“We know a couple in Mississippi who’s son was born shortly after ours, and they do newborn screen, which is how they found out,” said Brooks. “They received the treatment almost immediately, and they haven’t seen a single symptom yet. He is lifting his head, eating fine, and meeting major milestones on the timeline like he should.”
The next step in this families journey? Contact local representatives and fight for change. And you, reader, can help them with this, and any other medical fees that Connor will face. The couple has found community support via a Facebook page titled “Connor’s Army.” They are currently accepting donations via PayPal and venmo, at firstname.lastname@example.org and @kdbrooks0724, respectively.
“We do want to express our appreciation for all the donations, prayers, support, and love shown towards us during this time,” said Brooks.
For more information, and to follow along with with Connor’s Journey, make sure to visit “Connor’s Army” on Facebook.