F E A T U R E
Hope in Pill Form For patients like Michelle and Melissa, who suffer from extreme chronic pain due to NF1, hope for relief has been limited to surgery and pain management. Now, there’s a new hope on the horizon in the form of an oral medication called Koselugo (selumetinib), which was approved by the FDA in April 2020 for the treatment of NF1 in patients age 2 and up. “This is the first medication for the treatment of patients with NF1, a disabling and uncomfortable condition that until now has only been treated with surgery or radiation,” explains James Mason, MD, a hematologist and oncologist with Scripps MD Anderson Cancer Center and Scripps Clinic. “It interferes with the cellular pathway and inhibits cellular growth.” Dr. Mason explains that until now, the medical community did not know exactly how to approach NF1. Now, however, thanks to cancer research, there’s a greater understanding about how to treat neurofibromas. “It wasn’t reasonable to treat noncancerous neurofibromas with chemotherapy when they could be approached with surgical precision,” he says. “But this is an exciting new therapy. It has been shown to have a response rate in two-thirds of patients, in whom the tumors either get smaller or stop growing altogether.” Dr. Mason cautions that clinical studies of this new medication have been done only on pediatric patients, and that it’s not without side effects. An oral medication taken twice daily, it can cause vision problems as well as gastrointestinal and cardiac issues. Still, he says, for people like Michelle, who is taking the medication, “it represents a step toward the medical treatment of this very difficult inherited condition. It’s exciting to have something to give folks with NF1 other than surgery—you can’t operate on the dozens, hundreds or thousands of tumors they have. For patients who don’t have a lot of side effects, it’s an easy medication, and it will hopefully stop the progression of the disease and greatly improve the quality of their life.” Dr. Barnett is also hopeful that this new medication will be a beacon of light for her patients like Melissa, Michelle and all others with NF1. “For the treatment of NF1, we have surgery and sometimes radiation, which is the mainstay; watchful waiting; and now this third category—the new medication that Dr. Mason has taken on to try to treat these patients. They all work in concert with each other,” she says. “It’s really important that we work as a team, because we do want to avoid surgery when we can. Sometimes, surgery
“ere is hope, andwe can do it. at’s just howwe are. We’re ghters.” — ME L I S S A
Surgery, Rehab, Repeat
e twins’ full lives can largely be credited to the multiple complex surgeries they’ve had performed by both Dr. Barnett and Christopher Uchiyama, MD, a Scripps Clinic neurosurgeon 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 rst major surgery with both doctors in 2006 to remove multiple tumors from her high cervical spinal cord and nerves. ough she recalls that surgery being dicult, 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 onmy spinal cord,” she says. “Aer 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. e 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 dicult 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 Rehabilitation Services, Melissa used an exoskeleton robot for three weeks to train her muscles to work properly. en she was ready for her next goal: to wear her favorite high-heeled shoes again.
is the easiest; other times you have to spend a year recovering from it. This opens up a new treatment modality, which is a really wonderful thing to offer these patients.”
18 SAN DIEGO HEALTH | FALL 2021
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