A courageous tale comes to an end: Baby with rare genetic disorder passes away close to Christmas
Most people don’t contribute to the world over a lifetime what Charlotte Joy Norris did in just two short years.
Born with a rare genetic disorder, it was assumed her life would be cut way short, but she underwent an experimental therapy that not only prolonged her life, but it also paved the way for further research into treating the disorder.
Her parents, Kyle Norris and Kelsea McColley, were thrilled when they found out Kelsea was pregnant. Both are Tuscola High School graduates. Kyle served in the Marine Corps from 2007 to 2015; Kelsea got her degree in psychology and is working on a master’s degree. But while other young couples may be mapping out the future, passionately pursuing careers and growing a family, Kyle and Kelsea were almost entirely focused on caring for their daughter for two years.
Charlotte was born on Oct. 29, 2021. For the first few months, everything seemed normal, but one day, Kyle and Kelsea began noticing abnormal behavior, and a visit to the doctor revealed that her liver and spleen seemed enlarged. A follow-up appointment revealed that she had a high white blood cell count. They thought perhaps she had cancer, but genome testing revealed she had ASMD. Kyle and Kelsea were told their daughter had a year at the most to live.
The specific diagnosis is Neimann-Pick disease type A, the most severe.
There are enzymes known as lysosomes in cells that process lipids, including one called sphingomyelin. Those enzymes are called acid sphingomyelin, or ASM. In rare cases, both parents carry a genetic abnormality that can be passed onto a child and cause any number of unique complications. For Charlotte, that has led to a complete deficiency of ASM in her cells, which is why the condition is also known as ASMD. The buildup of lipids in those cells can cause organs to become distended, including the liver, kidneys, spleen and lungs. Eventually, a vital organ fails.
About a year and a half ago, the FDA approved the use of Xenpozyme from Genzyme for both adult and pediatric patients with ASMD. After first trying another experimental compound in September, Charlotte began receiving that therapy last December. A press release from the FDA noted that Xenpozyme received fast-track, breakthrough therapy and priority review designations. It also received orphan drug designation, which provides incentives to assist and encourage the development of drugs for rare diseases.
The treatment was designed to not only prolong Charlotte’s life, but to also improve its quality. It worked well until last year around September, when she began suffering allergic reactions. At first, she began to show some light discoloration on her face. Before long, she suffered a reaction bad enough that it required an epi pen. On the doctor’s recommendation, they discontinued the infusions. At that point, it was only a matter of time before she developed a fatal illness or suffered organ failure.
Charlotte Joy was a happy child, but fate dealt her a seemingly cruel hand. Although she initially responded well to her treatment, she was eventually taken off the infusions and became sick. Helen Pace, CCP photo
As predicted, in early December, she got sick. Initially, Kyle and Kelsea didn’t think it was too bad.
“We knew she was sick, but she wasn’t screaming and crying like before if it was bad,” Kyle said. “She just slept a lot more, and they told us that was probably normal.”
But eventually, a complication arose, and she developed pneumonia.
“She looked fine,” Kyle said, “but in those final days she was breathing less.”
They knew the time was quickly coming when they would have to say goodbye. When it arrived, Charlotte had been unconscious for a week. They brought in a music therapist to play some Christmas songs, something Kyle said meant a lot to the family, and probably Charlotte.
“Charlotte always responded well to music,” he said. “She used to love it when I’d sing to her.”
Charlotte passed away on Sunday, Dec. 17, at 12:46 a.m. Up to that point, family members took turns holding her for the last time. She died in her mother’s arms.
While the grieving process will be long and may perhaps never end, Kyle said there’s also been plenty to be thankful for. His and Kelsea’s lives have revolved around Charlotte, but they’ve had plenty of help from family and friends. Kelsea’s mother, Melanie Hollifield, her grandma, Joyce McColley, and her sister, Cam Hollifield, have given up a tremendous amount of their own time to shoulder some of the caregiving burden. In addition, Kelsea’s grandma has helped alleviate the financial burden by paying for their lodging on trips to Chapel Hill.
“Our families have been everything,” Kelsea said in an interview early last year. “Literally, we couldn’t do this without them.”
Kyle said his 12-year-old son, Carson, has also shown tremendous maturity in taking care of Charlotte and pitching in wherever he can. Although they try to let Carson enjoy the things a kid his age normally would, there’s still added responsibility. Norris said there were times his son was up with his sister late into the night but would still set his own alarm and was up to catch the bus for school the next morning. Carson had always looked forward to being an older brother, and the two had a special relationship. Kyle said he was proud of how much maturity his young son showed throughout his younger sister’s short life.
“She never even talked, but they had a special bond,” he said. “Toward the end, it got where she wouldn’t even smile for us, but he could always get her to smile.”
There are parents who lose children, sometimes in a sudden traumatic incident, sometimes over the course of a long illness, like was the case with Charlotte. Kyle said that he and Kelsea felt as though they, in a sense, mourned for her from the time they received the terminal diagnosis. “Perpetual grief,” he called it.
And now, Kyle said he is beginning to feel at peace in a sense, considering his daughter is no longer in pain, but he and Kelsea are also trying to consider how to get through the day-to-day without their daughter.
“It’s going to be a new normal for us,” he said. “It’s hard to get up in the morning, because the first thing we would do is see Charlotte and give her her medicine and spend some time with her. The morning hours were some of our best hours because she would be more alert.”
Charlotte went to University of North Carolina for her treatments. Donated photo
Something that has proven cathartic has been the process of creating a hand-woven basket called a burial vessel in which Charlotte will return to the earth. Working with Moss and Thistle out of Rutherford County, Kyle and Kelsea put in a sort of sweat equity and have worked with the company to help create the vessel, from harvesting the willow by hand to helping weave it.
“The vessel is so beautiful, and I don’t think they’ve actually done one for a child before,” Kyle said.
“Exerting the energy to harvest the willow to create something for Charlotte, and it was a lot of work, was important,” he added.
The family is holding a private funeral Friday, Jan. 5, and afterward, from 4-7 p.m. there will be a celebration of life at Wells Event and Reception Center in Waynesville. Special speakers will begin taking at 5 p.m. Finger food and refreshments will be served. Kyle said any and all are welcome, considering how many strangers’ lives Charlotte touched with her courageous story. Guests are encouraged to wear pink, along with pastels, to honor Charlotte’s memory.
Whatever grief Charlotte’s family feels, they can take some degree of solace in knowing that her life served to develop research that will one day save many lives. There are other kids out fighting the same fight she had, and what she went through moves the ball forward, pushes the research closer to the point that treatment will improve and maybe even yield a cure.
“We really have big hopes that maybe we can help other families down the road,” Kyle said. “Her doing the experimental treatments is now setting protocols for future children. I was already getting calls that other children are getting diagnosed, and they’re following Charlotte’s case. So now, any child that comes along, they’re going to be taking the same course of action Charlotte did because they felt like that was the best. And there might be somebody who will come along later that improves that even more, but Charlotte has definitely set up a precedent. We take a lot from that. Yeah. We want you know she’s going to live on through these other kids. And hopefully, one day, I really believe that in my lifetime we’ll be able to celebrate a cure.”
Kyle and Kelsea are still dealing with expenses, including funeral costs. To donate, visit their GoFundMe at gofund.me/0cc186d7.