Hi everyone. I am new in the forum. I apologize for cross-posting. I’m looking for advice on specialists and diagnostic pathways, as I am quite stuck right now.
I am a 45-year-old man based in Spain. I have hEDS and, after an apparently non-serious car accident in February 2024, I was found to have borderline craniocervical instability (CCI) and atlantoaxial instablility (AAI) (according to the usual measures). A vascular MRI later showed IJV at the C1 level. I was diagnosed by Dr Gilete in Barcelona.
Apart from moderate neck discomfort, my main disabling symptom is a sensation of not getting enough air when speaking (air hunger/shortness of breath), especially when I need to project my voice (for example, when teaching). Over time, I have needed water, lozenges/sweets and a microphone just to cope, and it is really exhausting and difficult. I am on the verge of losing my job and my career. My oxygen saturation is normal, and the feeling does not get worse with physical activity.
I have been doing very specialised PT for 1.5 years, my neck is stronger and the level of neck discomfort is perfectly manageable. But the air hunger is still there.
In 2026 this has worsened: my throat gets dry very quickly, this can lead to a dry cough, and the sensation of not getting enough air is now worse, sometimes even a bit at rest. I do not have sleep apnoea, as far as I know.
I’ve already seen:
- a local pulmonologist (spirometry and oxygen saturation were not revealing)
- a local general ENT (no clear findings)
- a local neurologist (who simply said it was psychological and due to depression)
- Dr Gilete (a specialised neurosurgeon)
I am totally lost because, unsurprisingly, nobody is really guiding me about what to check or monitor in order to identify the clear source of the shortness of breath and, eventually, a solution.
My guess is that this appeared after the accident and is very likely to be related to CCI/AAI, but I am not sure how. As I have worsened and the situation has become more and more unbearable, I am now trying to pursue several paths.
First, going back to Dr Gilete. In principle, the tests (CBCT) ruled out static brainstem compression. Also, I did a cervical collar trial for 4–5 days and did not notice any improvement. It is also worth noting that this (air hunger) is my only neurological symptom. I would have expected that, if there were some brainstem compression, there would be many more neurological symptoms. This path would probably imply a more invasive trial (with a cervical collar with thoracic support, or even a halo) and angiography (to better explore the jugular vein compression). Also, in principle, it could typically result in (at least) a C0-C2 fusion, with all the associated uncertainties and problems (adjacent segment disease, a huge amount of money, osteopenia, etc.). At present, I also do not have any good indication that fusion would solve the problem. In this respect, I am also considering asking Dr Oliver for a second opinion, which could be valuable in any case.
Second, related to Gilete’s findings, I bear in mind that I have internal jugular vein compression. That is the reason why I posted it here. The origin is not entirely clear (some people have it and are fully asymptomatic), but I think it was a consequence of the accident and the subsequent CCI/AAI. Typically, jugular vein compression does not cause this symptom, but I hypothesise that one possibility is that the vagus nerve (which is involved in breathing and runs next to the jugular vein) may also be compressed. I do not know whether it is possible to test this hypothesis properly, as it does not seem easy at all to make such a diagnosis. With respect to this path, my idea is to consult a more specialised ENT or a neurosurgeon focused on that who may help to isolate the cause of the shortness of breath, if that is even possible. In principle, one possible outcome of this route would be that the cause is compression of the vagus nerve. In that case, decompression could be a potential treatment. It is a serious surgery (but nothing compared with an occipito-cervical fusion), controversial (there is not much evidence, CCI is a complication, some doctors recommend fusion directly, etc.) and not widely available. There are some experts in the US (Dr Costantino and Dr Hepworth) and one in Australia (Dr Rao), but, to my knowledge, expertise is scarce in Europe. Dr Timothy in the UK used to perform it, but I am afraid he does not treat hEDS patients (at least regarding CCI).
Right now, my idea is to visit Dr Gilete again (and, eventually, also Dr Oliver) and, in parallel, to see a specialised ENT who may shed more light on my problem. I do not rule out neurologists, but the experience of people with CCI/AAI with them is very bad (as their knowledge of CCI/AAI is often very limited).
Because of the timing after the accident and the cervical findings, I wonder whether this could involve upper airway/laryngeal dysfunction, a nerve-related issue, or something structural related to the cranio-cervical junction.
Any ideas about my symptoms, specialists, etc. would be sincerely appreciated.
In particular:
- Has anyone with hEDS/CCI/C1 jugular vein compression had air hunger when speaking, throat dryness, or dry cough?
- Did anyone find help through laryngology/neurolaryngology/upper airway specialists?
- If surgery was needed for C1-styloid/jugular compression, which team helped you?
- Any recommendations in Europe, or elsewhere, for doctors who really understand this type of case?
Thank you very much in advance.
but i had a few good years.