Bertolotti Syndrome

By Arthur Jenkins - Own work, CC BY-SA 4.0, https://commons.wikimedia.org/w/index.php?curid=130115275

For as long as I can remember I've had a dull ache in my lower lumbar area. When I was a child I was infamous for pulling leg muscles doing the simplest of gym routines and even after warm ups. Those issues were pretty much written off as just more symptoms surfacing for whatever mysterious autoimmune condition I had and kept me hospitalized, off and on, throughout my childhood. 

It was also during that childhood I would start sitting in odd positions, my legs intertwined, pretzel like, one underneath me. It was the only way I was comfortable and, oddly, even though my skeleton may have felt stiff, I was still flexible, very much so. 

No one put those things together. Not even when they realized I had a congenital defect in my spine. At the time I was around 12 or 13, maybe older. My mom came in my room to tell me the doctor called to say I had an extra vertebrae "or something like that" but that it was no big deal and not causing my spleen to enlarge. 

Great, I was born a freak, was all my fed up teenage mind could utter. 

What I have is called lumbosacral transitional vertebrae (LSTV) and for the most part it was thought that somehow having part of your spine partially fused at birth was no big deal Jenga anyone?. Better yet there are those among us who have and do have an extra vertebrae, and yes, there too, they thought it was no big deal for those born like that...

Science is ever evolving, thankfully. I will not bore you with the details of the past 4 decades other than to say if you're a woman in my age bracket, 50 and up, and have had any ongoing autoimmune type disorder, or other pain causing disorder doctors were unable to pinpoint so they turned the tables on you with medical gaslighting, my heart goes out to you. The domino effect on our lives is and was devastating, I know this and part of me posting a special awareness page to my blog highlighting Bertolotti Syndrome is for that very reason - I am trying to turn what could very easily turn bitter in me into something positive, awareness.  

Now you ask what is Bertolotti Syndrome, eh? Well it is when you are born with LSTV and it becomes symptomatic as a pain generator. Like all of us, when you're born with LSTV how it is fused, including to what degree, is unique to our bodies. They can classify it into subtypes, which is the photo at the top of the page, but even then we all vary a bit which will determine if you become symptomatic. 

If you are symptomatic they say it usually starts showing in early adult years, however it can appear in children or later in life. Again, we're all unique and like with me, having an autoimmune disorder can add to the symptoms, the degeneration and the confusion in diagnoses. 

As for symptoms - According to Jenkins Spine, who at the time of this posting, has done some of the most recent studies on Bertolotti Syndrome, including redefining and adding the the subclassifications, stated the following: The presentation of Bertolotti’s syndrome is very broad, with symptoms that can mimic a herniated disc, result in back pain, or even hip or sacroiliac pain.

This overlap of symptoms with other, more common and generally understood conditions means that Bertolotti’s syndrome is often overlooked as a cause of a patient’s pain.

Jenkins goes on to state the following for the cause: Bertolotti’s results from a combination of factors: those affected will have a congenital anomaly known as a lumbosacral transitional vertebra (LSTV) as well as degeneration in the discs or a scoliosis that results in worsening the biomechanics of the spine at the level of the congenital anomaly.

For more information I suggest you hop over to Jenkins Spine but I also suggest you research like there is no tomorrow. Read absolutely everything you can on the topic. Find the most current information and publications by using that Tools drop down in Google Search. Take notes, ask questions. Join online support groups. Share what you learn with others. Educate your doctors and be willing to listen to them. Don't let them gaslight you, but take in other possibilities ONLY IF they can give you a logical and educated response, and I am not talking a cookie cutter medical book one. We're unique. Get 2nd, 3rd, 4th..etc opinions. 

READ those radiology reports! Look to see if lumbosacral transitional vertebrae (LSTV) is noted as present. Don't expect your doctor to be alarmed by it or even bring it up, if needed, YOU NEED TO - and then educate them. 

It's exhausting, I know but trust me when I say the earlier you get intervention the better off you will be. It is devastating when the dominoes start falling and you still have to educate the professionals while fighting with insurance companies because your care WILL become COSTLY and you will be more than likely to become disabled with mobility issues - prevent that. 

Bertolotti Syndrome was named for Mario Bertolotti, an Italian physician who first described it in 1917. It has taken this long before even he was taken seriously by his peers, and there's still debate, namely due to those old text books outliving their time. 

As for me, last year I finally found a neurosurgeon from Northwestern Hospital in Geneva, Illinois who took me seriously. Within the first ten minutes of meeting him and after he reviewed my file, I was in tears - he had already validated my life, my life as a female chronic pain and illness patient of being gaslit. It was overwhelming. He put my Bertolotti Syndrome diagnosis in writing and soon after he operated on me. 

I no longer have that constant dull ache that would ebb and flow with pain throughout my days, every day, for as long as I could remember. He opened up the severe stenosis that had formed and then he ran into some surprises, but those discoveries are for another day as I am still researching them for myself. 

His name is Dr, John Brayton. He was an incredible and caring human on top of being an outstanding neurosurgeon. If you knew me you would probably be falling off your chair reading that line because for me to give accolades to a doctor rarely happens, but I cannot find any fault in the care Dr, Brayton and his team provided. I was hospitalized for two weeks due to spinal fluid leakage, as I stated above, he ran into some surprises. The treatment from all the staff at Northwestern in Geneva was above average. 

I hope reading this has provided someone else with some comfort in knowing they are not alone. There are many of us out there and we all need to know that but to do so will take each of us in doing our part in sharing what we learn, so, if any of this is relevant to you and your world then I ask that you share and keep the domino effect of hope in action. 

Be Well. 

I am also working on building myself back up which includes reaching out to anyone who would like to support me on these endeavors and help me in gaining strength to be the best advocate I can be, for myself and others. Currently I am unable to drive and still working on building strength, physical and spiritual, after last October’s surgery — it was tough one. I created this Amazon Mobility / Healing Wish List as one of the ways for those who want to help, can.