Identical twins share so much more than their birthday and their looks. They also share their complete genetic code — the DNA that is otherwise unique to every individual. For sisters Michelle Paixao and Melissa Romberg, age 46, that shared DNA also means they share a genetic condition called neurofibromatosis type 1 (NF1), a hereditary disorder that causes noncancerous tumors to grow on the nerves throughout the body.
Usually diagnosed in children due to signature “café au lait” — colored spots on the skin, NF1 is the most common form of neurofibromatosis and is often mild — sometimes so mild that people don’t even know they have it unless they go looking for it. For Michelle and Melissa, however, symptoms came on later in life — and once they did, they came with a vengeance, and the sisters had to go looking for answers.
“It wasn’t until my sister and I both had our first children — more than 26 years ago — that the chronic pain started,” Melissa recalls. “We went from doctor to doctor and kept hearing that there was nothing wrong with us.”
But both sisters knew something was terribly wrong.
“My symptoms started after I had my first daughter. That’s when I started having chronic lower back and abdominal pain,” Michelle says. “Doctors could not determine the cause. I had a colonoscopy and countless tests, and I was told there was nothing wrong. When I got pregnant with my son — my second pregnancy — I was in pain from day one. The bigger he got, the more pain I was in.”
Michelle and Melissa’s diagnosis finally came from an unlikely source: Melissa’s future mother-in-law, a retired pediatrician.
“I underwent laparoscopic surgery because doctors thought I had endometriosis,” Melissa explains. “All they found, though, were white cotton-ball-type growths in my abdomen. My now-mother-in-law asked me if I had café au lait spots on my skin. When I said I did, she told me I had to go to my doctor and ask if I had NF. He looked at me and asked, ‘What’s that?’ Because it’s a pediatric condition, it’s very rare to be diagnosed as an adult. But it was confirmed that I had NF.”
From there, Melissa told her sister, who had been struggling with chronic pain and unanswered questions for years, to confirm the diagnosis with her doctor as well.
“Once Melissa was diagnosed, she told me, ‘Go to your primary care doctor and tell them your identical twin was just diagnosed with NF and you need an MRI,’” Michelle says. “Finally, I got the diagnosis. I changed my insurance so I could be seen by Melissa’s doctor, and we could be monitored together.”
“Although I was not the doctor that diagnosed them, I have known Melissa and Michelle since they were in their 20s,” Dr. Barnett says. “They were in chronic pain for years, and people looked at these 4-foot- 10 dynamos and would never think anything was wrong with them. But finally, they had scans that showed thousands of tumors on their nerves — like clusters of grapes over all the nerves throughout their bodies. It’s a very painful condition, but they are forces of nature!”
Over the past 22 years since they’ve been in Dr. Barnett’s care, Melissa and Michelle have undergone radiotherapy, targeted radiation therapy to shrink the tumors, and have had countless surgeries at Scripps. Dr. Barnett continues to monitor the size of their tumors annually — and will do so for the rest of their lives.
“You can have a near-normal life expectancy with NF1,” she explains. “Treatment involves a lot of surveillance imaging, and the prognosis differs depending on the patient. Some patients’ tumors do not grow very much; others have a malignant transformation into cancer.”
“With Melissa and Michelle, because there are so many tumors, they have a lot of nerve pain. They get MRIs once a year on the brain, neck, cervical spine, lumbar spine, lungs, abdomen, pelvis, and legs. I will also alternate with a PET scan, which uses radioactive glucose to see if any of the tumors have an abnormal uptake of sugar, which would mean they were becoming malignant,” Dr. Barnett says. “They always let me know if anything is hurting, so I can monitor it.”
The pain, Dr. Barnett acknowledges, is constant.
“That’s what makes them particularly resilient,” she says. “It takes a lot of psychological strength, and despite their constant pain, Melissa and Michelle both live very full lives.” Prabhakar Tripuraneni, MD, radiation oncologist, Scripps MD Anderson Cancer Center and Scripps Clinic, agrees. “Melissa and Michelle are always impeccably dressed with a smile, in spite of all the pain.”
He adds, “Radiation therapy is very useful and dramatically improves the quality of life in many noncancerous conditions, such as neurofibroma, pituitary adenoma, meningioma, Dupuytren’s contracture, keloids, heterotopic ossification, and others that most people and doctors are not aware of.”
I told my team, ‘I’m walking out of here. I’m not going to live in a wheelchair.’ It was hard, but I beat all the odds.Michelle Paixao
The twins’ full lives can largely be credited to the multiple complex surgeries they’ve had performed by both Dr. Barnett and Christopher Uchiyama, MD, PhD, a neurosurgeon at Scripps Green Hospital and Scripps Clinic Rancho Bernardo who successfully completed spinal surgery on both Melissa and Michelle several years apart from each other.
Michelle, who says she’s had “countless” surgeries, had her first major surgery with both doctors in 2006 to remove multiple tumors from her high cervical spinal cord and nerves. Though she recalls that surgery being difficult, she says nothing compares to the second, in 2016, to remove multiple tumors in her cervical spine.
“Up until I had surgery, I was tripping and falling, my dexterity was bad, and I was dropping things. I had seven tumors compressing against each other on my spinal cord,” she says. “After I came out of surgery, I was told that if I’d waited any longer, my spinal cord would’ve snapped, and I would’ve been a paraplegic. The surgeons removed bone, and I’m now fused from C2 to C7. I had to have extensive rehabilitation, but I told my team, ‘I’m walking out of here. I’m not going to live in a wheelchair.’ It was hard, but I beat all the odds.”
Not only did she beat the odds, she crushed them. Michelle went back to her job as a hairdresser three months later.
“Dr. Uchiyama thought I was crazy, but I thought the best physical therapy would be for me to go back to work. My physicians allowed me, with restrictions, but it was my will. My will to live,” she says. “I just have to stay positive and get up and go. It’s hard. It’s really hard. But what else do I do? Stay in bed and cry? No. I’m a single mom who raised two kids. I have my kids and my granddaughter, and that keeps me happy.”
During Michelle’s complex surgery and difficult recovery, her sister Melissa watched anxiously, knowing she would likely walk that same path in the near future.
“It was expected that we would have the same progress and prognosis, so I knew at some point I’d need spinal surgery,” Melissa says. “I knew what my journey would be because I saw her go through it.”
While Michelle experienced dexterity issues and drop foot prior to her spinal surgery, Melissa’s symptoms manifested as burning hands. “When I started having more problems with my arm and burning in my hand, I knew it was time to start thinking about surgery,” she recalls. “It was scary because I saw what my twin went through, but Dr. Uchiyama didn’t want me to wait any longer.”
Melissa had her spinal surgery on June 2, 2020, during the pandemic. She remained in the hospital alone for 20 days before being transferred to rehab for another four weeks.
“I had to relearn to walk, to brush my teeth. Because of my hand, I wasn’t able to hold utensils properly,” she says. “Luckily, I have an awesome husband who was there for me every minute of every day. I needed help getting out of bed. I had to wear orthotics because I had problems with my ankles rolling.”
During her physical therapy at Scripps Encinitas Rehabilitation Services, Melissa used an exoskeleton robot for three weeks to train her muscles to work properly. Then she was ready for her next goal: to wear her favorite high-heeled shoes again.
“PT had me bring in heels to work with and see what would be suitable for me, because they knew wearing my high heels made me happy,” she laughs. “We started out with chunky ones, walking with them on the parallel bars. Then, when it was time for me to return to work in January of this year, I slowly graduated from platforms to finally getting into my real high heels, which I am so happy to be in.
“I really would like to thank all the inpatient and outpatient occupational and physical therapists who worked with me when I was in the hospital,” she continues. “They all really worked hard with me to make sure I was able to get to my high-heel goal. My next goal is to get back to playing soccer with my 40-plus women’s team, and I know I can do it. It was a long, hard road; a hard recovery. But I have to have a positive attitude about the whole thing. I can’t let it drag me down.”
This fighting spirit that both twins share is what got them through what Dr. Uchiyama explains are extremely high-risk surgeries.
“Both Michelle and Melissa had large, aggressive tumors invading their spinal canal,” he says. “They had similar, yet different, procedures — Michelle had a laminectomy and fusion, Melissa had a laminoplasty as part of cervical tumor resection procedures.
“Although they are identical twins, their anatomy is a little different, so that was part of the decision-making process, to tailor treatment to the short-term problem while considering the long-term needs.
“Both surgeries were dangerous, and they came out with significant impairments, even though we were meticulous, because the tumors were a part of their nerves,” he says.
Still, despite their complex surgeries and challenging recoveries, Dr. Uchiyama, like Dr. Barnett, marvels at the twins’ resilience in the face of such severe medical adversity.
“You would never know by seeing them that their bodies are filled with tumors,” he says. “They go about their daily lives and have a great sense of humor. Most people would have taken disability, but they are both chugging away.”
“They both had difficult recoveries, but can now walk without crutches or a walker, which represents a very dramatic recovery, considering the type of tumors they had,” he says. “That comes from them being positive and staying focused on their rehab. They’re really exceptional people, and we’ll continue to treat whatever issues come their way.”
I have had such a strong relationship with Dr. Barnett...She has always been there for me when it comes to my NF.Melissa Romberg
Only time will tell how the twins’ recovery will progress and how their tumors will grow, so Melissa and Michelle will continue to work with their team of doctors to monitor and treat this lifelong condition. Both are on pain-management regimens, including medications and injections. Michelle recently began a new medication to try to slow or stop tumor growth, while Melissa opted to see how her sister responds to the medication first. Both sisters are thankful to their Scripps team for the exceptional care they have received along their difficult journey.
“I could not ask for better physicians and surgeons. They all take such pride in and have so much dedication to their patients’ care,” Michelle says. “There need to be more doctors like the ones at Scripps — doctors who care and show so much empathy.
“From the surgeons to the aftercare to all the hard work I put into not wanting to have a caretaker for the rest of my life, if it were not for Scripps, I would not have gotten the care and treatment that I needed.”
Melissa adds, “I have had such a strong relationship with Dr. Barnett over the past 22 years. She has always been there for me when it comes to my NF and has always been protective of me. Any time I have increased pain or if something is not right, she always jumps in so we can try to figure out what is going on. Additionally, I had radiation with Dr. Tripuraneni and surgery with Dr. Uchiyama, and they are both so caring and awesome. That’s my team!”
But there is one more co-captain of Melissa’s team whom she absolutely could not live without — her twin, Michelle. “We’ve never done something like this together as twins. When we were young, we were always in twin contests,” she laughs. “Even though this disease has taken a big part of our lives, it’s been a great experience for us to go through it together. There is hope, and we can do it. That’s just how we are. We’re fighters.”