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Solving Medical Mysteries: Bertolotti Syndrome

Anna started having back pain when she was 16. The diagnosis of Bertolotti Syndrome came quickly for her — by the age of 17. But treatment to address her debilitating pain took a lot longer to find.

Anna was a junior in high school when the pain flare ups started. They ranged from a 3 to a 9 on a 1–10 pain scale and as a result, she was able to play volleyball, do competitive dance and exercise with Cross Fit as the pain ebbed and flowed. She took a gap year, didn’t work and says she mostly lay on the couch. In time she started to feel better so she was hopeful when she headed off to the University of Alabama for college. But in the Fall semester of her second year, the pain at the bottom of her spine near her waistline stretched down to her hips and got so extreme, she couldn’t sit in class or to study. Walking to class was a challenge. Taking the bus was painful. She just couldn’t function or focus on her school work and so she medically withdrew.

She went to doctor after doctor — not only near her Alabama home but traveling to see experts in Franklin and Nashville, TN and Birmingham, AL. She had phone consultations with many more. She says everyone told her the same thing — there’s nothing we can do for you. Anna and her parents weren’t willing to accept that. So in the spring of 2022, she and her Mom flew to Reston, Virginia to meet me — and I knew as soon as I saw her that there were in fact treatments that would help.

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I didn’t see surgery as a good option for her and instead suggested Stem Cell Therapy so we could use her own stem cells to regenerate healing. She liked that idea and came back in April 2022 for the procedure. She was in and out the same day. I warned her relief wouldn’t be imminent. It takes time for stem cells to regenerate. But I was optimistic she would see a change in a few months and she did.

“I’ve had a lot of injections in my back and this hurt but I was in and out the same day and it wasn’t anything I couldn’t handle,” Anna recalls. Within two weeks, the pain subsided and in about four months, she remembers one day feeling excited. “I started to have pain relief. I felt so much better I started looking into returning to school and work.” By March 2023, she says she was 99% back to normal. She returned to school to study engineering and started working as a bartender and server — a job that keeps her on her feet for hours at a time. “Now I just have normal-people pain if I work a double shift,” she says with a smile. “I feel really good.”

Anna, now 21, says her advice to others with Bertolotti Syndrome is to have a good support system — for her it was her parents. She urges young patients to keep searching until you find the right doctor to help you. “Sometimes, because of my age, people didn’t believe me when I said how much pain I was in. Keep pushing to find people who will listen, acknowledge and believe you about your pain,” she says.

She says it’s also important to never give up hope. “There were days I thought the pain would last forever but it doesn’t have to. You will go through some hard times and it will be difficult watching your young friends live their normal lives but being young will ultimately help you heal faster.”

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