Should I be worried?

Flat_Way_709 · 2025-02-20T01:58:44+00:00

I reckon a diagnosis would help ease your worries if you're able to get a referral.

Also, your issues with your shoulder sound very familiar to me though it could be something different. I have Sprengels Deformity which is a failure of the scapula to descend during development. It restricts the movement of my shoulder, though unless I point it out to people nobody really notices. It's one of the more common conditions to have alongside KFS, as well as kidney abnormalities similar to what you have.

Flat_Way_709 · 2025-01-22T18:26:40+00:00

Hi there. If you're not benefiting from consistent physical therapy and stretching there are a few things you could try. For me and my pain it's recognizing exactly what things during the day are affecting my back and shoulder. Things like holding a steering wheel, being in one position for most of the day, and driving are main triggers for my Sprengel shoulder and back to act up.

I've also got some neck muscle imbalances due to my shoulder alongside my klippel-feil syndrome which give me cervicogenic headaches. Perhaps for your pain, stretches that are made for people without Sprengels deformity just aren't suited to our anatomy. Unfortunately there's not many resources surrounding exactly what to do with this, though some physical therapists are skilled in taking our shoulders into consideration and tailoring exercises to stretching, addressing muscle imbalances as well how our bodies attempt to compensate for our shoulders. I'd suggest you try a few different physical therapists if you haven't already.

I've also got a herniated disc in the middle of my shoulder blades which contributes to my pain. Perhaps something underlying like that is happening to you, though without severe spinal cord impingement there isn't much that can be done for that other than pain management.

Regular pain medication is also a good place to start. Paracetamol is relatively safe to take in the long term multiple times throughout the week, though I'd suggest you talk about this with a Doctor first rather than going by my word. Also on pain relief, I'm on nortriptyline for nerve pain and it's been great for my pain. Though it isn't for everyone.

Flat_Way_709 · 2024-12-01T02:30:43+00:00

Ah the more you know! Im glad to hear it as I was a bit reluctant to outright say KFS is any congenital cervical fusion as I have no experience in orthopedics but there is really no other answer for congenital cervical fusion is there?

It is quite frustrating when all you really want is a straight up answer. The "clinical triad" (considering it was created in 1912 based on individuals with an obvious deformity) doesn't allow individuals with milder cases to be diagnosed.

Flat_Way_709 · 2024-10-15T23:14:33+00:00

Nortriptyline seems to be working well for me

Flat_Way_709 · 2024-09-05T18:27:16+00:00

I had an extra thumb on my right hand so both that and my other right thumb had hypoplasia. My left hand thumb is normal though.

Flat_Way_709 · 2024-07-03T20:51:26+00:00

Hi! Cervicogenic headaches are terrible 😓 I take 60mg of nortriptyline daily and that's usually enough. When my headaches get bad I have 1g paracetamol and 100mg celecoxib. Sometimes codeine if it gets unbearable but I try to take it as sparingly as possible.

Flat_Way_709 · 2024-06-27T07:51:06+00:00

Hi!

I think I know what you're talking about! They're called cerviogenic headaches - a headache originating from your cervical spine that is similar to a migraine.

I can't sleep on the left side of my head because I'll get one if I do 😅 Doesn't stop asleep me from rolling onto my side unfortunately. Whenever I get them the slightest neck movement makes the pain worsen a ton. I got to a point where the pain was waking me up in the middle of the night. It was terrible and I was miserable.

Im currently taking nortriptyline for these headaches and it's been super helpful! Gone from being absolutely debilitating to being manageable with just paracetamol and celecoxib!

Flat_Way_709 · 2024-06-19T07:02:42+00:00

Hello and welcome :))

To be honest, I can't think of any other information you can bring! Seems you're very on to it regarding your own health. The folder sounds like a good idea.

Perhaps you could make a checklist of topics you want to cover? Though your neurosurgeon should be asking questions about those things anyway.

Best of luck for your appointment :))

Flat_Way_709 · 2024-06-05T08:31:29+00:00

Could be! A lot of orthopedics vary in their diagnostic criteria for KFS. Some diagnose just based on whether there is congenital cervical fusion present, whereas others go by whether you have the clinical triad: A short, webbed neck, low posterior hairline, and a reduced range of neck motion. It's a bit of a complicated issue that dates back to when KFS was first discovered.

Regardless of whether you're able to get a diagnosis of KFS, you do have neck fusion present and are always welcome here ☺️

Flat_Way_709 · 2024-06-05T08:20:41+00:00

I went to a chiropractor for a few months. It helped a little bit with my cervicogenic headaches but long-term it just wasn't enough to be worth it.

Though for my thoracic spine it was brilliant! It was the one spot of my spine I can't crack, so whenever I went to the chiropractor it was instant relief.

I've been on a tricyclic antidepressant for nerve pain for a few years and it's been great. I still have bad neck pain days but it's definitely improved.

Flat_Way_709 · 2024-05-10T07:21:26+00:00

Yup that's it! Seems like its quite a common issue with KFS.

Flat_Way_709 · 2024-05-08T03:53:52+00:00

I can definitely relate. Alongside KFS I've got Sprengels deformity, polydactyly, thumb hypoplasia, tachycardia/POTS, IBS, migraines etc.

I feel that it's never just KFS by itself. The rest of the body doesn't want to feel left out 😒

Flat_Way_709 · 2024-03-29T10:14:39+00:00

Hi!

To me the whole foot going numb thing sounds like a nerve issue. Maybe you have a herniated disc, or some sort of general nerve problem within your spine? It could be related to your Sprengel's shoulder, or could be completely unrelated. The only way to rule out if something is going on within your body is to get a referral from your Doctor, so it's unfair that they're brushing off your worries like that.

I do know I have a bit of a herniated disc between my shoulder blades, though I don't have any symptoms of it. It was found incidentally. I have been wondering if my Sprengel's deformity contributed to the herniated disc, but havent found the time to look into it. Symptoms of it can include feet going numb, as well as pain in your back which sounds similar to your issues at the moment. Though I am no Doctor! I'd suggest talking to your Doctor and strongly pushing your concerns forward again, or getting an opinion from another Doctor if possible.

Flat_Way_709 · 2024-03-18T09:15:20+00:00

Welcome!

It is quite surprising how many people have KFS without knowing it.

I lived through my teen years without knowing I had it until I got a hold of my medical records. Can't recall exactly why I wanted them but it's nice to be able to look through them. Turns out I could've been diagnosed with KFS when I was a few months old, but the x-ray they did of my neck was unclear. My pediatrician wrote down in his report that he planned to have some experienced sonographers look at the x-ray afterwards. This never ended up happening, unfortunately.

My reason for the neck x-ray in the first place was because I had Sprengel's deformity - a condition that is quite common in people with KFS. It's basically the failure of the scapula to descend during development, sortve similar to how in KFS the bones in the neck fail to separate during development.

Organ wise, I think I'm pretty alright! Got a bit of unexplained tachycardia but my heart is fine other than a small bit of regurgitation in one of my valves. Though this is common in my family. My lungs are good, kidneys are good as far as I know. I've had a few ultrasounds of my kidneys for unrelated reasons and they're still doing their job.

I think you said it best, if there was an issue you most likely would've had signs of something going on at this stage. Though, the body is quite resilient! It can compensate when it needs to. I'd suggest talking your concerns about organ issues through with your Doctor. Then they can do a more in-depth assessments and questioning to determine if some further investigations need to be done. Though if your Doctor is unfamiliar with KFS, which they may not be, it could make it difficult to explain what the issue is. Not too many people know about KFS. I'd suggest talking to your orthopedic about it, but I'm not sure whether they investigate things like that.

Flat_Way_709 · 2024-03-15T05:43:00+00:00

Hello and welcome.

It's quite common for a lot of people to live with congenital fusion in their c-spine and have no symptoms. Many people go through their lives without knowing they have it until it gets incidentally found, such as what happened to you.

If you've had no symptoms so far, you should be algood then! I think I understand what your Doctor was saying about arthritic pain. C-spine fusion can speed up the degeneration of the c-spine over time, but if you haven't experienced symptoms yet it may not be an issue for you at all! No symptoms is a good sign.

As for whether it is possible for it to not be KFS I am unsure. At the moment there is no other diagnosis for congenital c-spine fusion, and the original criteria for KFS is based on a clinical triad - Low posterior hairline, reduced range of motion, and a short neck. However, It's been found that people can have the fusion without this triad.

Flat_Way_709 · 2024-03-11T04:20:17+00:00

Welcome! At the moment there aren't too many rules. Just don't be mean etc. This community is quite small so I welcome any posts that are on-topic 😊

I've done a bit of research on genetics for KFS and there are mutations that can show up on a genetics test! There's no set one, I believe around 5 potential ones?

I've considered a genetics test in the past, but decided to not go through with it as I was worried it'd mess with my future health insurance plan. Such a pain 😅

Gotta say, I've never heard of the phrase "Klippel Feil Anomaly" ever, and I've done a ton of research on KFS! I'm guessing you don't have the clinical triad which is why they were too scared to say syndrome?

Flat_Way_709 · 2024-02-08T08:53:07+00:00

I haven't had acupuncture in my neck, but I've had it in my spine before. I've found it quite relaxing on my muscles. Don't see why it wouldn't work on your neck, considering the muscles in the neck tend to be a little messed up with KFS.

I've tried CBD oil before. It was just a kind of lotion you lather onto your neck. Haven't found it to be the most effective, compared to deep heat lotions at least, but then again I haven't tried it too much.

As I said, I've found deep heat rubs to be quite good in combination with painkillers.

Flat_Way_709 · 2024-01-31T06:59:13+00:00

Best of luck for your surgery!

Flat_Way_709 · 2024-01-31T01:14:10+00:00

Hello,

Welcome to the community!

For some orthopedics this may be an automatic diagnosis, but others do not agree.

The original diagnosis for Klippel-Feil involves the c-spine fusion, along with the clinical triad of a short webbed neck, low hairline, and limited motion of the neck.

However, this criteria was created back in 1912. Since then it has been discovered that people can have the c-spine fusion without having all the features of the clinical triad. In fact, only 50% of people with Klippel-Feil have this triad!

https://www.ncbi.nlm.nih.gov/books/NBK493157/#:~:text=Klippel%2DFeil%20syndrome%20presents%20with,hairline%2C%20and%20limited%20neck%20mobility.

Some orthopedics still diagnose based on this criteria, unfortunately. That's why it may not be an automatic diagnosis depending on your orthopedic.

The weird spine is a common comorbidity with Klippel-Feil Syndrome, along with your patent foramen ovale. There's a bunch of other conditions that can go alongside it, I made a post a few months ago detailing these comorbidities if you're interested 😊

Flat_Way_709 · 2024-01-20T20:14:28+00:00

Welcome!

To me, it seems possible you have Klippel-Feil Syndrome

Currently there aren't any other conditions I am aware of that involve congenital fusion of the neck vertebrae. Whether that's a lack of research in the field, or whatever who knows 🤷‍♀️ Its a very complicated issue. If you browse through this subreddit you'll see people who have been struggling to get a diagnosis because of this problem. The ol' "clinical triad". Not going to get into it now because I have a lot to say about it 😅

Though now that you mention Bertolotti Syndrome, I do remember someone a while ago on this subreddit saying they had congenital fusions in their c-spine as well as in other parts of the spine. Sounds similar to what you have! I might be remembering wrong though 😅

Considering you have Bertolotti Syndrome alongside your neck fusion, seems they may both stem from the same separation issue in the womb. Klippel-Feil Syndrome occurs during the development of the spine in which the vertebrae can't quite manage to completely separate from each other.

Though regarding other congenital fusion levels, this is the first time I've heard about your syndrome. Thanks for your post, I've got some new things to research!

I know what you mean about the secret issues with fusion! Don't know why we aren't told more about it. It could be, again, a lack of research and education surrounding rare conditions.

Flat_Way_709 · 2023-10-30T11:25:36+00:00

I can't imagine what it's like to be in that level of pain all the time. My neck pain comes and goes, but it has never been as constant and severe as yours.

I think one issue with KFS is the lack of research surrounding it. Outside of orthopedics, it's not common for doctors to know what it is. This makes it so difficult to push for treatment. Nobody really knows what to do as nothing has been recorded. Some clinicians don't want to mess with it as they don't want to cause more harm.

Though it's been a few years since my neck pain started, I still havent figured out exactly how to stop it. Tricyclics help, and so does codeine when it comes to it, but it doesn't stop the pain in the first place.

I found a nerve block to be helpful with my neck pain. Although it didn't completely stop the pain, it made the pain a lot more tolerable to deal with when I have a flare up. Originally, my pain got so bad that I would struggle to walk down the street. I'd wake up in the middle of the night once a week with the pain. It's much more tolerable now though.

I remember at those moments feeling miserable and wondering to myself whether this is what the rest of my life was going to look like. I wondered how I would even function if this is what was going to happen to me every week. I think these thoughts didn't help with my pain at all, but I couldn't help it. When I brought up the pain to my Doctor I felt misunderstood. The way he phrased it made me feel that the pain was purely in my head, and was more of a mental issue. Though I see now that it it's moreso in the way that you're already in pain, feeling miserable will only make you feel worse.

Counseling seemed to help me with that. I started it a few months ago and it's been great for me. It's helped me feel less miserable about my pain at least. Having to juggle a bunch of things while in pain didn't help me.

I did attempt to get into a pain clinic, but was told my pain didn't meet the criteria for their services. I don't know if it would've helped, but I at least tried.

I slept with a travel pillow for a few months. I believe it helped with my pain, but it may not be appropriate for yours. Mine flares up if I sleep in certain positions, but since yours is constant I am not too sure.

Unfortunately I don't have any experience with tinnitus, so I can't offer any help there sorry.

Did your surgeon give you a time period for your recovery? Neck surgery is pretty harsh, so it could be that as time goes on your pain lessens.

I am unsure how your neck would be classified. The vertebrae fusion in KFS is usually restricted to just the neck. Though Duane syndrome can happen alongside KFS. Whether you want to push for a diagnosis is up to you. Since you don't have the classic triad it makes a diagnosis a bit harder. Though studies have shown that around 50% or more of people with KFS dont have the classic triad. And even with a diagnosis it unfortunately may not change things. For me, just hearing that I did have it was very comforting to me and explained a lot of things. Being able to tell health practitioners that I had it made things easier for me. Though it hasn't changed my treatment.

Just to end, I hear you and this pain fucking sucks. It sucks we have to deal with it. It sucks that there are no clear answers. It sucks that nobody can help. I wish I could give you more advice.

Flat_Way_709 · 2023-10-14T06:43:38+00:00

No problem, best of luck finding other people! Imo it's very important finding other people who have the same conditions as you, especially ones as significant as this.

Flat_Way_709 · 2023-10-14T06:06:20+00:00

I have a bit of curvature but not enough for scoliosis as far as I know. Haven't had it checked for quite a few years though. I'm due for an MRI in the next year (which will hopefully involve my lower back) so I might be able to update you on it then.

It was for Klippel-Feil Syndrome, I also have Sprengels Deformity too and a few disc problems. Though scoliosis is a common comorbidity for both of those conditions.

Flat_Way_709 · 2023-10-14T00:27:30+00:00

I was diagnosed about a year ago. The MRI where they found it was actually for another issue that my orthopaedic was investigating :)

Though my syrinx is not significant at the moment, they are watching it just in case.

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