Faces of Rare Disease: Neurofibromatosis Type 1

Faces of Rare Disease: Neurofibromatosis Type 1

A Lake Area toddler is living with a disease that is just starting to show itself on and inside his tiny body.

Zachary Paul has neurofibromatosis type 1. This genetic mutation is already causing his skin to change colors, but it is the threat of tumor growth that is the scariest for his parents.

Zach is a soon-to-be two-year-old who knows his way around a doctor's office. Between the pediatrician, physical, occupational and speech therapists, plus pediatric cardiologist, Dr. Mudar Kattash, Zach spends a lot of time with specialists.

Brittney Mouton is Zach's mother.  She says her pregnancy with her fifth child (all boys!), was a breeze.  "His pregnancy was picture perfect," she said, "no problems, no concerns."

Zach's first few months of life did not show any red flags until about the three month mark.  "He was considered failure to thrive," said Brittney, "he was shorter than most babies his age, his head also continued to grow larger."

At six months, Zach also had eight flat, discolored patches on his skin.

A geneticist tested Zach and the results showed he had a gene mutation affecting about one in 4,000 children.  "When he told us that he had neurofibromatosis type 1, I had never heard of it," said Brittney.

Neurofibromatosis type 1 is the result of a mutation in the NF1 gene on chromosome 17. It can be passed down from a parent or in Zach's case, be a spontaneous gene mutation.  "It took a while for me to come to terms with it," said Brittney, "it seems so surreal, especially since it's a genetic condition and neither me nor his father have it."

The eight café au lait patches on Zach's skin have now grown to 30, but the biggest threat is tumor growth externally and internally, which could affect his lungs and heart.  Dr. Kattash explains those tumors could block blood flow and trigger major heart issues.  "If they are big enough, we might have to go after them or if they're causing certain problems to the muscle, we'll go after them. If they are small, we watch them."

Out of Dr. Kattash's patient load of 20,000 children, only four others have NF1.  "For some patients, the disease might worsen fast," he said, "and for some patients, it might be slow. Even within the same family, it's a very tricky disease."

Brittney says it is scary to not know what may come next - if tumors will form - and if her child will live a normal life. But she says she has learned to soak in every moment, even if it is at another doctor's appointment.  "I respect life so much more," she said, "I just know that we don't know the time we have with him or my other children for that matter. I just cherish it."

Most people with NF1 have normal intelligence, but some will have learning disabilities and attention disorders.

Another big concern is with tumors growing around the optic nerve. Zach is checked regularly by an eye doctor to protect his vision.

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