By RYOKO NAKAMURA, Rafu Japanese Staff Writer
Diane Kimi Akutagawa of Thousand Oaks had chickenpox and stomach flu like any other child. Other than having “birthmarks” scattered throughout her body, she had a healthy childhood.
She had no idea that 29 years later, she would learn the birthmarks were actually one of the symptoms of a progressive disorder called neurofibromatosis, also known as von Recklinghausen NF.
When she was in middle school, she started noticing tiny bumps like bug bites developing on her body. “Since they were painless, I didn’t pay much attention. I even thought they were a sort of acne,” Akutagawa recalled.
However, the bumps didn’t go away. Being a teenager, she was self-conscious about her appearance and tried to cover up those bumps and blemishes with clothing. She even had an initial consultation with a plastic surgeon to discuss removing some of the birthmarks.
Although she decided not to undergo this treatment due to the cost, neither the plastic surgeon nor the family doctors she visited for routine checkups seemed concerned about the bumps and birthmarks.
When she was 29 years old, she noticed that new bumps had started developing, and some were painful. She went to the doctor to ask if they were removable.
For the first time, she heard a medical term related to her skin condition. “When the doctor first told me, ‘You may have neurofibromatosis,’ I was thinking ‘neuro-what?’ I’d never heard of it. I had no idea what that was.”
As soon as she came home from the doctor’s office, she researched the new terminology on the Internet. She found out that neurofibromatosis, NF, is a progressive disorder that causes tumors to grow on nerves throughout the body.
It is a distinct genetic disorder. Half of all cases are inherited from a parent who has NF, but the other half result from spontaneous mutations in sperm or egg cells. If a parent has NF, there is a 50 percent chance that the child also has NF.
NF affects both sexes equally and is not more prevalent among any particular racial, ethnic, or geographic population. There are three distinct types: NF1, NF2, and Schwannomatosis.
NF 1 is the most common of the three, occurring in one in 3,000 births in the U.S. The primary symptoms are multiple café-au-lait spots and tumors on or under the skin. Tumors may grow in the brain, on cranial nerves, or on the spinal cord. About 50 percent have learning disabilities.
NF2 occurs in one in 25,000 births. Multiple tumors on the cranial and spinal nerves are the main symptoms. Because of the location of tumors developing, hearing loss is common.
Schawannomatosis is a rare form of NF and has recently been recognized. It can cause severe, chronic, and debilitating pain. It is believed to affect about one in 40,000 individuals.
At this point, there is no cure for NF. The only option is surgery to remove the tumors. Most patients must endure multiple surgeries throughout their lives. Depending on the location of the tumors, some patients become blind or experience difficulty walking.
As Akutagawa read the research on NF online, she became increasingly certain that she had NF1. Her “birthmarks” had a medical name, café-au-lait spots, and the bumps were actually tumors.
She also learned NF is a little-known disorder that only trained physicians can diagnose. It made sense that she was not diagnosed until adulthood.
“Then, I clicked on ‘images,’ which I probably shouldn’t have because that was a little frightening to see,” she said. “The images show the people completely disfigured due to tumors. It was scary to think that my condition could progress that way since NF is a progressive disorder.”
After seeing a specialist and undergoing a series of tests, Akutagawa was diagnosed with NF1. Since none of her parents and family members has NF, her case is believed to be spontaneous generation. Fortunately, her symptoms have been very mild, and there is no indication that she has a learning disability at this point.
However, she will require lifelong checkups and MRIs to monitor for tumors. If tumors return, surgery may be necessary. She has already had two surgeries to remove a total of ten tumors. Fortunately, none of them were cancerous.
She started looking to see if there were other people out there living with NF. And surprisingly, she found multiple support groups and forums on Facebook. She learned many people are suffering. Some are in constant pain, some are subjected to severe migraines, some are disabled, and some have died because their tumors were cancerous.
“There are far worse cases out there than what I have. I realized that I’m very fortunate. Hearing others’ stories only encourages me to do more to support those who suffer,” she said.
The Children’s Tumor Foundation, a nonprofit organization dedicated to ending NF through research and supporting people with NF, hosts an annual NF Walk at various locations throughout the U.S.
Akutagawa created her own team, “Team Twinkie,” last year and has participated in the walk ever since. “If they find a cure by the time I decide to have children, I won’t pass my NF on to them. We can break the cycle.”
She continues to support people with NF she met through Facebook as well. “We are here for one another by sharing experiences and helping each other,” she said.
Akutagawa posts information about NF on her own Facebook page as well. “If people click on the link, that’s one more person who has heard about NF. It’s not necessarily about raising money, although that’s great because it helps fund research. To me, it’s a lot more important that people know about NF. If someone out there has it and feels completely alone and isolated, we want them to know that we are here for them and for each other.”
To read more about her story and to learn more about NF, visit www.facebook.com/DianeKimi.
For more information about NF, visit the Children’s Tumors Foundation at www.ctf.org.