Light brown birthmarks can be found on anyone, but for some they are a sign of something more. When more than six of these café au lait spots are present on an infant, it could mean they have a form of neurofibromatosis.
These genetic disorders cause tumors to grow on nerve tissue. Although symptoms can be mild, the tumors can become cancerous or cause serious complications, according to the Mayo Clinic. In 2020, the U.S. Food and Drug administration approved Koselugo, the first specific treatment for the condition, and research continues.
“People don’t ask me what is wrong with my neck anymore,” said Phillip Moss, a child patient who was treated with Koselugo, according to the Children’s Tumor Foundation. “The drug does make me fatigued, which is tough since most kids my age are active in sports or physical activities that are challenging for me.”
Sam Mohideen – a 3-year-old from suburban Chicago – has a plexiform tumor on his left arm and was diagnosed with neurofibromatosis, also known as NF, when he was three months old. His family is currently collecting donations for the Shine a Light NF Walk Chicagoland next month.
“The unknown that lies ahead can cause fear and anxiety, but frankly his smile and his contagious laugh make us feel like everything is going to be okay,” they said. “This fighter has our hearts, and we’re so lucky he’s ours.”
By Tuesday afternoon, donors had raised $9,320 towards the Mohideens’ $20,000 funding goal. Proceeds will go to NF research efforts.
As of Tuesday, there were 314 studies related to the condition listed at the U.S. National Library of Medicine. Some study results have been released in recent weeks.
There are three different types of neurofibromatosis: NF1, NF2 and schwannomatosis.
According to the American Association of Neurological Surgeons, NF1 is caused by mutations in the gene that controls production of a protein called neurofibromin and it manifests at birth or early childhood. NF2 results from mutations of a different tumor-suppressing gene and can appear in childhood, adolescence or early adulthood. Schwannomatosis is not as well understood as the other conditions and is more often diagnosed in adulthood.
NF1 occurs in approximately one out of every 3,500 births, according to the AANS, NF2 occurs in approximately one out of every 40,000 births and schwannomatosis occurs an estimated one out of every 40,000 births.
According to Variety, actor Sebastian Stan – known for playing Bucky Barnes/Winter Soldier in the Marvel Cinematic Universe – will play a character with neurofibromatosis in the upcoming film “A Different Man”.
Neurofibromatosis-related tumors can develop anywhere in the nervous system, including the brain, spinal cord and nerves, said the Mayo Clinic. Complications include hearing loss, learning impairment, heart and blood vessel problems, loss of vision, and severe pain.
Apart from café au lait spots, symptoms of NF1 include: freckling in the armpits or groin area that appears from ages 3 to 5, tiny bumps on the iris of the eye, soft pea-sized bumps on or under the skin), bone deformities, tumors on the optic nerve, learning disabilities, a larger than average head size and short stature.
NF2 generally manifests as slow-growing tumors in both ears that can cause hearing loss and schwannomatosis can cause chronic pain.
In addition to Koselugo, some treatments for the condition include surgery and chemotherapy. For patients such as Mohideen, tumors are regularly monitored.
Last month, the Children’s Tumor Foundation announced a partnership with the Focused Ultrasound Foundation to co-fund an early-stage laboratory study to investigate how focused ultrasound could help address NF2.
“Treatment options for NF2 patients are limited to high-risk surgery, chemotherapy, or radiation therapy, which carry high risks of morbidity,” said Tracy Galloway, Children’s Tumor Foundation Board of Directors Chair. “The development of more nonsurgical treatments, like focused ultrasound, offer much promise in more effectively and safely helping patients.”
More research is also expected to come out of the foundation’s partnership with Deep Science Ventures (DSV), a London-based venture creator announced July 26.
“People with NF can play a critical role in the development of new treatments and the search for a cure by participating in clinical trials,” said the Neurofibromatosis Network organization. The network stresses that anyone who wishes to participate in a clinical trial should first consult their physician.
More information about research and donation opportunities related to neurofibromatosis are available through the Children’s Tumor Foundation.
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