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Woman experiencing lower back pain discovers she has rare genetic syndrome

Cleveland Clinic
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Thirty-six-year-old Rachel Weiss was very active, constantly participating in running events, but was forced to put that on hold when she started getting chronic lower back pain two years ago.

“There was a day when I did laundry and I'd be banging on the dryer because I can't fold the laundry and it's so frustrating because it's something that you just do. It's not something you think about,” Weiss said.

Weiss said she constantly felt pain when bending forward or twisting.

She had no clue it was anything more than a sore back.

Weiss said she hopped on social media with her symptoms, and that’s when she was referred to the Cleveland Clinic.

“[Rachel Weiss has] a condition called Bertolotti syndrome. It's the name given to a spinal abnormality that you're born with,” Department of Neurological Surgery Chairman and Cleveland Clinic Center for Spine Health Director Dr. Michael Steinmetz said.

Bertolotti syndrome is caused by transitional lumbosacral vertebra.

Symptoms of Bertolotti syndrome may include:

  • pain and tenderness in the lower back
  • stiffness
  • decreased range of motion in the lower back
  • a pinched nerve in the lower spine
  • pain in the groin, hips, and sacrum

However, some people with Bertolotti syndrome may not present any symptoms.
According to the National Library of Medicine, between 4 and 8% of the population have Bertolotti syndrome.

“The anatomy has been known for a long period of time, but it's a very subtle imaging finding. And people rarely catch it,” Steinmetz stated.

Steinmetz added that Bertolotti’s syndrome can only be found through X-rays.

Once the syndrome is detected, Steinmetz said that patients will have two options: surgically remove the abnormality or fuse the spinal cord.

Weiss chose spinal fusion in 2023.

Steinmetz said the recovery process is typically three months.

“It's hard when you're in that moment of darkness and you can't see out of it, but there is a light at the end of the tunnel,” Weiss explained. “It has definitely taught me patience. Patience is the best word – just taking it slow and knowing that there are going to be good days and there's bad days. There are times that aren't going to be the best. There are days that are going to be great and you just kind of have to work through it.”

It’s been a year and a half since Weiss’ surgery, and she just ran her first-ever duathlon in Cleveland. She ran at the TRI CLE Rock Roll Run duathlon on Aug. 18.

“It is a testament to the treatment of this disease, right? I can't put that emotion into words more than this is why I go to work every day is to take somebody who had a problem that not a lot of people understand and make an accurate diagnosis,” Steinmetz said. “This is incredible. It's an incredible feeling. It brings me ultimate joy.”

Steinmetz has been treating Bertolotti syndrome since 2007.

He said a referral is not necessary to be seen at the Cleveland Clinic for Bertolotti syndrome.

“What's important for patients to know is we have a process for evaluation of these patients. Many people think they have this, and they don't have the appropriate work up yet to know if it's causing a problem. We have a team of professionals that can see them,” Steinmetz said.

Weiss is back to her day-to-day routine and encourages those going through the same journey she did to hang in there.

“It does get better. It's no fun at the time when you're going through it. But there is a light at the end of the tunnel. Even if you don't see it right now. Just keep pushing because you're going to get there,” she said.

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