Wednesday, August 9, 2023

Neurofibromatosis--mother and child

A Pennsylvania mother and her one-year-old son share an unusual bond. They are both living with the same rare genetic disease.

Lindsey Marson, 28, and her son, Bryson, were both born with Neurofibromatosis Type 1 (NF), "a genetic disorder that causes tumors to form throughout the body," according to Johns Hopkins Medicine.

The specific type of NF that Marson and her son have "is one of the most common inherited disorders and affects about one in every 3,000 people," the health care organization continued.

Even though the stay-at-home-mom and her baby have the same genetic disease, they are each impacted in different ways.

When Lindsey Marson was born, one of the hospital's nurses noticed several "light brown, flat patches" on her body — and indicated that this could be sign of NF, Marson told Fox News Digital.

As she continued to grow, her right leg started to curve into an "S" shape, called congenital pseudarthrosis of the tibia, another indicator of NF, she said. 

By the age of two, Marson was clinically diagnosed with NF Type 1.

Marson said that as a child, she had to have her leg lengthened and strengthened through an external fixation device, which ensures bones remain in an "optimal position during the healing process," according to the National Library of Medicine.

"I literally had 10 rods drilled through my bones. They came out through my skin, surrounded by a halo, and I had to turn pins each night that would separate the broken bone inside my leg," Marson said. 

"So that way new bone could grow, and my legs could catch up."

In spite of facing health challenges during her growing-up years, Marson was able to attend high school and even go on to beauty school before working at a hair salon for almost two years.

Being a hairdresser meant continuous standing. And even though Marson wears a brace full time, she found that long hours of sustained movement on her legs began to cause a great deal of pain, she said.

Marson left her salon and moved into a human resources position, which she said she loved because she calls herself a "people person."

"I wanted to change the dynamic of HR to employees or associates, because HR is always scary, and I never wanted to be the scary HR lady," Marson said.

"I wanted to be the one where people were like, ‘I can go to her for anything.'"

During her time in HR, Marson became pregnant with Bryson. Before that, she was doing research on genetic tests in the hope that he would not inherit the disease, she said.

"With NF, you have a 50% chance of passing along [the condition] to your child," Marson added.

Bryson was her "surprise blessing," as she likes to put it.

Marson said she chose to forgo any NF testing for her baby while she was pregnant, because she was planning on having the baby no matter the outcome.

One thing she learned along the way: NF presents itself differently for almost every person — even if people have the same type.

When Bryson was born, his eye was swollen and doctors at the time believed it was from birth trauma following her Caesarian section, Marson stated.

Shortly after giving birth, Marson took one-month-old Bryson to see an ophthalmologist, where he had an MRI.

"The MRI showed that he had a large plexiform tumor behind his eye, in his face and in part of his brain," Marson said.

By the time Bryson was three months old, the large tumor had grown — so he was taken to Children's Hospital of Philadelphia (CHOP) to start chemo.

He was put on MEK chemotherapy, an oral form of chemo that can administered at home.

While the chemo stabilized the tumor, side effects left Bryson with a severe rash — so Marson and Bryson's oncologist decided to stop administering the chemo, Marson said.

Surgery could not remove Bryson's tumor in its entirety because his particular tumor is "like a spider web throughout his face, his brain [and] his eye," Marson explained.

The tumor in Bryson's eye began compromising his vision, so a portion of the tumor was removed by his ophthalmologist.

Marson is now over a year old, but the tumors in his face and brain have only continued to grow, Marson said after her son had another MRI in May.

Marson and her son went through genetic testing, and it lined up perfectly. 

They "have the exact same variant," she stated — but they have completely different symptoms.

"I saw that NF could be severe, but I totally thought, 'I didn't have it severe, so Bryson is not going to have it severe,'" she added.

While seeing her son struggle with NF has been difficult, Marson said her own diagnosis of the same genetic disease has made it slightly easier because she has a level of understanding her own parents did not have when she was growing up.

"We are definitely closer because of this. I mean, he is my little baby."

"It was still really scary, and I still felt extremely guilty," Marson said.

She added, "It was still hard, but it wasn't as hard because I knew all the terminology and I knew what to expect."

Marson believes the best thing a parent can do for a child is be an advocate — and find moments of positivity.

She started a Facebook page to educate others on the condition, hoping to bring awareness to NF and help others know how to recognize it in a child.

"We are definitely closer because of this. I mean, he is my little baby," Marson said of herself and her son.

"I feel like we have a stronger bond because of it and I know what he is going through, and I will be there for him 100% of the time," she said. 

This year, the Children's Tumor Foundation featured Marson and Bryson in a photo series with other parents and their children who are fighting NF together.

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