Waiting on diagnosis

Posted by jl1 @jl1, Aug 29, 2019

It is so frustrating to not get a diagnosis.

I had an auto accident on 2/1 this year and walked away with a bruise on my left arm from the airbag, 2 staples in my head, and a concussion. Other than a headache, life was good.

Two weeks later, after trying to work with a headache from the concussion, it got so bad that I had trouble remembering the simplest thing about my job. I called my primary's office and agreed to go in that day. After a brief exam, he ordered a brain MRI. The first of many to come.

No damage from the wreck but it was abnormal, in the cerebral peduncle area and it was totally symetrical. I was referred to neurologist. Since then I have had 5 brain MRI's, ct scans and MRI's of chest abdomen and pelvic, a full body bone scan, 2 lumbar punctures 2 aspiration biopsies and one surgical biopsy.

I was relatively symptom free at this point. Although o did have symptoms but later learned they were all misdiagnosed as something else : hearing loss, crying, double vision, loss of balance, and weakness in my legs and arms.

In June, I was told that I should no longer work or drive, so I am basically homebound and reliant on others for transportation. The loss of balance is so bad that i have to use a cane when i am not in my house. And the double vision has gotten to the point where it is difficult to read which is my favorite pastime.

I recently went to a neuroimmunologist that gave me a diagnosis of brombencephalitis brought on by sjogren's. He only looked at my brain MRI. I am still waiting on the biopsy results.

Has anyone else got a cns disorder but no diagnosis. Or if you have a diagnosis, how long did it take to get? Did it take 5 weeks to get a pathology report?

I've been pretty patient but my patience is wearing thin!

@jl1

Ugh! Ok. Now I have ANOTHER possible for diagnosis. I saw a neuroimmunologist at Duke Medical on 8/26. He mentioned Behcet's and Sjogren's but said before he can start treatment of rituximab infusion, he wanted to do some lab work and wait on my pathology report. It came back showing benign hemangiomas in my t10 vertebrae, so no cancer. He said the notes that he got from Duke mentioned CLIPPERS. Has anyone heard of this. The oncologist said it is a fairly new disease and is super rare.

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Thanks for your repely , I'm still looking for more answers before I do head surgery for Chiari! I'll pray for you

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Is brain biopsy the only way to know for sure if it is clippers? I am still recovering from the open biopsy of my spine.

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I had to have more blood work. I have an appointment on 9/23 with my neurologist. Her nurse called me yesterday to send me for bloodwork before my appointment with her. She said this bloodwork needed to be done before I could start treatment which is rituximab. Is it normal to start treatment without a diagnosis? How can they know that it is the correct treatment?

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@jl1

I had to have more blood work. I have an appointment on 9/23 with my neurologist. Her nurse called me yesterday to send me for bloodwork before my appointment with her. She said this bloodwork needed to be done before I could start treatment which is rituximab. Is it normal to start treatment without a diagnosis? How can they know that it is the correct treatment?

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@jl1. I don’t know whether they do/can treat with rituxan before a formal diagnosis. Usually, the first treatment is IVsteroids and then oral steroids. Rituxan is a monoclonal antibody/chemotherapy drug. Have you looked into a 2nd opinion? Have you seen the MRI and discussed it with the doctor? You might try getting on Google scholar and look for CLIPPERS and see what you think or what questions you might want to ask. Or maybe go to a university hospital. Wish you best of luck

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The neuroimmunologist that suggested it is from Duke Medicine which is part if the research department at the university. I have had 5 different MRIs and yes my neurologist explained it to me. Until the results from my biopsy came back, all of my doctors thought I had cancer and the neurological part was paraneoplastic. She referred me to Duke for the 2nd opinion.

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It took six weeks but I finally got my biopsy results back. I had an open biopsy on t6, t10, and t12 vertebrae. The oncologist said it wasn't cancer, it was hemangioma and wasn't related to my brain issues which are central nervous system. He said I would need to contact my neurologist and see what she thought it could be. This was on tuesday.

I decided to look up exactly what he said it was. Hemangioma in the thoracic vertebrae.

This is what I found:

"Symptomatic hemangiomas represent less than one percent of all hemangiomas, and are more common in women than in men. If left untreated, symptomatic hemangiomas can cause serious neurological effects." This is from UPMC website.

Has anyone heard of this? Out of all the things that the neurologist mentioned, this is not one of them. Of course, she has been focused on paraneoplasm which it is not. This makes perfect sense to me. I think the oncologist could possibly be wrong. I think this is possible. I have an appointment with the neuro surgeon that did my biopsy tomorrow and I am going to ask him about this.

Any thoughts?

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@jl1

It took six weeks but I finally got my biopsy results back. I had an open biopsy on t6, t10, and t12 vertebrae. The oncologist said it wasn't cancer, it was hemangioma and wasn't related to my brain issues which are central nervous system. He said I would need to contact my neurologist and see what she thought it could be. This was on tuesday.

I decided to look up exactly what he said it was. Hemangioma in the thoracic vertebrae.

This is what I found:

"Symptomatic hemangiomas represent less than one percent of all hemangiomas, and are more common in women than in men. If left untreated, symptomatic hemangiomas can cause serious neurological effects." This is from UPMC website.

Has anyone heard of this? Out of all the things that the neurologist mentioned, this is not one of them. Of course, she has been focused on paraneoplasm which it is not. This makes perfect sense to me. I think the oncologist could possibly be wrong. I think this is possible. I have an appointment with the neuro surgeon that did my biopsy tomorrow and I am going to ask him about this.

Any thoughts?

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Hi, @jl1 – just wanted to let you know I've moved your post with your latest update to this discussion you'd started earlier, "Waiting on Diagnosis," so that others you were talking with here could see the latest. Glad that you are finally getting some answers with the hemangioma in the thoracic vertebrae. Good to hear you have an appointment soon with the neurosurgeon and can ask him more about this.

In the meantime, I think that other members in this conversation as well as members like @johnbishop @jenniferhunter may have some thoughts for you. @puzzledami also mentioned something similar and may have some input.

Do you have a list of questions for your appointment with the surgeon tomorrow? What are you thinking of asking him?

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@jl1

It took six weeks but I finally got my biopsy results back. I had an open biopsy on t6, t10, and t12 vertebrae. The oncologist said it wasn't cancer, it was hemangioma and wasn't related to my brain issues which are central nervous system. He said I would need to contact my neurologist and see what she thought it could be. This was on tuesday.

I decided to look up exactly what he said it was. Hemangioma in the thoracic vertebrae.

This is what I found:

"Symptomatic hemangiomas represent less than one percent of all hemangiomas, and are more common in women than in men. If left untreated, symptomatic hemangiomas can cause serious neurological effects." This is from UPMC website.

Has anyone heard of this? Out of all the things that the neurologist mentioned, this is not one of them. Of course, she has been focused on paraneoplasm which it is not. This makes perfect sense to me. I think the oncologist could possibly be wrong. I think this is possible. I have an appointment with the neuro surgeon that did my biopsy tomorrow and I am going to ask him about this.

Any thoughts?

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@jl1 A lot of hemangiomas are benign. I have a couple of them in my thoracic spine and I wouldn't know about them without an MRI as there are no symptoms. They are an area of blood supply within the vertebrae, and there is less bone there because of the hemangioma. If they cause weakness in the bone or if the lesion grows into the spinal canal, that could be an issue. I asked my spine surgeon about mine and he told me it was nothing to be concerned about. Essentially it is like a birthmark which is a lesion caused by a clump of blood vessels and those can occur on internal organs.

Here is a link that explains. https://www.ncbi.nlm.nih.gov/books/NBK532997/

This is a case report of a symptomatic hemangioma. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5088736/

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@jl1 — There is an older webinar Q & A Video from 2017 that talks about hemangiomas that you might find helpful.

Video Q&A about Vascular Malformations and Related Syndromes
https://connect.mayoclinic.org/webinar/video-qa-about-vascular-malformations-and-related-syndromes/

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Well, the neurosurgeon said it is not causing my neurologic problems. He said it would only affect my legs. So now i just wait on my 9/23 appointment with the neurologist. Ugh!

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I have seen appointment on Monday with the neuroimmunologist at Duke. My neurologist said that the Duke doc says it is CLIPPERS. The appointment is to discuss treatment.

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@jl1

It took six weeks but I finally got my biopsy results back. I had an open biopsy on t6, t10, and t12 vertebrae. The oncologist said it wasn't cancer, it was hemangioma and wasn't related to my brain issues which are central nervous system. He said I would need to contact my neurologist and see what she thought it could be. This was on tuesday.

I decided to look up exactly what he said it was. Hemangioma in the thoracic vertebrae.

This is what I found:

"Symptomatic hemangiomas represent less than one percent of all hemangiomas, and are more common in women than in men. If left untreated, symptomatic hemangiomas can cause serious neurological effects." This is from UPMC website.

Has anyone heard of this? Out of all the things that the neurologist mentioned, this is not one of them. Of course, she has been focused on paraneoplasm which it is not. This makes perfect sense to me. I think the oncologist could possibly be wrong. I think this is possible. I have an appointment with the neuro surgeon that did my biopsy tomorrow and I am going to ask him about this.

Any thoughts?

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Hello there!!

I wanted to share a little of my story. I woke up in early April with left side rib & abdominal pain radiating to mid back. after several weeks of tests, I finally asked for an MRI for the mid back to see if I had a herniation. And to my surprise. I have 2 hemangiomas T1&T11. As weeks progressed, the nerve pain continued on my left side (sometimes right low ribs) and radiated down to my groin, I started having bowel issues, urinary issues, and weak legs with nerve pain in both. I get pins and needles through out the body, My heart rate started to be abnormal and I was getting chest pressure which made it hard to take a deep breath. So I feel like a huge mess. I have had MANY tests with only the hemangiomas showing up. 3 of my doctors said that isn't your issue, but what else is causing all of this nerve pain, bathroom issues, weak legs, tight chest?
T1 nerves are Heart, arms, chest etc. T11 is bowel, kidneys, ureter, buttocks etc. These are areas that I am having issues with. I feel like I am wasting so much money on testing when these could potentially be an issues.
It makes me very sad that for the last 5 months, my life stopped ( I was incredibly active with my 5 kids, working out, and just a go go person) now I am resting 90% of my day, I have bowel/gas issues, urinary issues, I developed PACs and SVTs, and My legs get very heavy and week when I am up to long. My doctors just keep trying pills to see if anything helps. So far, nothing has. I feel very let down and that I will just "Be" because none of them want to consider those as my issue.
I have been scanned from head to toe, beside the cervical neck. Blood work (only finding high IgA), urinalysis, CTs, HIDA scan, ECHO, EKG, Ultrasound of right side when all my pain is left, X-rays. Nothing shows up, but I continue to be miserable (yet thankful I am here) everyday. I am in PT, Chiropractic care and hope to try massage therapy. I continue with Gabapentin, muscle relaxers, naproxen when needed, and anxiety meds just to keep myself going for the day, but it is hard.
So I am not sure if you are having symptoms from them? I will say, mine do not always hurt in the the vertebrae, but somethings I get pain that sends me to my knees. It is all these other symptoms I and doctors are stumped with. I need answers so I can move on with my life. We need answers!!
Lastly, I do not like that these are dismissed for some people or any. I am nervous because they can cause micro fracture if they grow, and I feel that they can grow "pulse" when heart rate increases. After all they are blood vessels. if mine cause micro fracture, I could potentially end up with collapsed vertebra due to my family's severs history with osteoporosis.
I have a few more tests coming up and I will continue with Chiropractor/PT, but I might be asking for Mayo referrals soon. Going from Busy/healthy 5 months ago, to not being able to hardly function, that seems like a pretty big problem.
Did you get an answers?? I see your post was from over a year ago.

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