History
I’m often asked, online or in person, what’s ‘wrong’ with my body. In person, I rarely want to go through all my medical conditions - especially with people I’m not close to - as doing so can be upsetting, as well as taking a while because there are so many.
Rather than reply individually to messages, I decided to write this about my medical history (the relevant bits). Hopefully, some readers will also learn a few things and this will also help raise some awareness of conditions that may otherwise not be covered often.
Are you sitting (or lying) comfortably? Then let’s begin…
Hypermobile EDS
Ehlers-Danlos Syndrome (say ERR-lers dan-LOS) is a connective tissue disorder where effected bodies do not make proteins properly.
There are different types of EDS, each with their own characteristics and symptoms. The genes causing other types of EDS have been identified, but the gene behind the Hypermobile type is yet to be conclusively found.
In some bodies with Hypermobile EDS, though, a gene can be identified that complicates matters and opens sufferers up to suffering symptoms more usually seen in the Vascular type (e.g. aortic dissection/rupture, internal organ rupture).
Traditionally, it was stated that those with HEDS never suffer aortic or internal organ issues, but if the TNXB gene is present in the body, these potentially fatal things can happen (as I talk about in 'Failing').
Sadly, as is usually the case with EDS, medics’ knowledge about the Syndrome is unacceptably lacking, so it can be impossible to get genetic testing for the TNXB gene without paying for an expensive test privately. Medics still struggle to identify or even consider EDS when treating patients.
Them knowing about the TNXB gene in HEDS will be even rarer.
Symptoms of HEDS can vary from person to person in terms of severity and progression, but there are well documented signs of the syndrome.
These include:
- Joints bending too much/too far.
- Chronic pain.
- Easy, recurrent and frequent joint dislocation and subluxation.
- Poor wound healing.
- Easy scarring (even IV needles, stitches and scratches leaving permanent scars).
- Velvety soft skin (the medical description, not my personal description).
- Hyperextensible (stretches an abnormal amount) skin.
- Fragile blood vessels (can include the aorta*).
- Fragile internal organs*.
- Aortic issues* (e.g. dissection - the walls of the aorta coming apart, dilation).
- High-arched palate (roof of the mouth).
- Over-crowded teeth requiring braces.
- Lobeless ears.
- Marfanoid Habitus (named after Marfan Syndrome, a ‘cousin’ of EDS) -a short torso with abnormally long limbs and fingers.
- Gorlin’s sign (being able to touch the tip of the tongue to the nose).
- Keeping legs straight and together, bending over and placing palms flat on the floor (spinal hypermobility).
- Being able to touch the thumb to the inner-wrist.
- Local anaesthetics (specifically Lignocaine/lidocaine) being less effective, making
dental work and minor surgery (e.g. mole being removed) painful and unpleasant.
*These issues are more usually associated with the Vascular type (VEDS), but in HEDS bodies that have the TNXB gene, they can also happen.
While my opinion was controversial, Professor Grahame shook my hand and congratulated me for that short piece.
This is due to the TNXB gene leading to incorrect production of Tenascin X, a protein that, along with collagens, elastins and proteoglycans, helps maintain structural integrity in the extra-cellular matrix.
I first researched and wrote about Tenascin X and the TNXB gene in HEDS and how this gene can cause aortic issues in HEDS (which was contrary to popular medical belief at that time) around 20 years ago when I was EDSUK’s editor, in charge of their ‘Fragile Links’ magazine.
While my opinion then was somewhat controversial, Professor Grahame shook my hand and congratulated me for that short piece.
With this in mind, I have a feeling that the role of Tenscin X and proteoglycan production in HEDS will become more significant and receive more attention in coming years (as has been the case with Tenascin X in the last decade of so) regarding the cause of associated conditions like those below.
Painkillers have long been known to be less effective in those with HEDS, including the strongest meds like IV Morphine and Fentanyl. Some with HEDS can be given a combination of strong medications and not experience the usual drowsiness or impairment.
It was documented decades ago that babies with HEDS often experience a premature birth. This may be due to the condition somehow impacting on the structural integrity (strength) of the membrane forming the amniotic sac.
Not everyone with HEDS will be hugely impacted and may experience an improvement in their subluxations and dislocations as their joints stiffen with age.
In more severe cases, the reverse will be true, with increased subluxations and dislocations happening as joints become increasing lax with age.
In my case, the number of joints that sublux and dislocate daily and constantly has increased since I was twelve years-old and first started experiencing daily pain (in my knees).
When internationally renowned EDS specialist, Professor Rodney Grahame examined and diagnosed me, he stated my body is one of the most hypermobile he had seen.
My ankles dislocated when I was learning to walk, and Professor Grahame described them as ‘infantile’ (as mobile as a newborn infant’s ankles) when I was an adult.
My left temporomandibular joint (jaw joint) dislocates every time I yawn, bite in to food and chew, or open my mouth to brush my teeth.
My left knee cap dislocates with every few footsteps. My skull and spine sublux constantly, even when sitting still. My left elbow dislocates when my arm is still and kept at a right angle (e.g. when typing or using cutlery). Both shoulders now sublux and dislocate daily, even with basic movements (my right shoulder only started doing this a few months ago).
My ribs now regularly and increasingly come out of my sternum, even when I’m still and just breathing. My collarbones do the same.
The sound of my spine, skull, elbow, jaw and knee caps popping out and being relocated (put back in place) is audible to others.
My daily, recurrent, common dislocations and subluxations are not limited to the joints mentioned above.
Although HEDS is not considered progressive in the usual medical sense, those with more severe cases often experience a progression in its effect in terms of it causing more joints becoming unstable and subluxing/dislocating. They also experience a progression of pain (more joints hurting).
In my case, HEDS has progressed and I've had increased daily pain since the age of 12.
Dysautonomia
Dysautonomia (say dis-ORT-on-OH-meeah) means dysfunction of the autonomic nervous system. It’s association with HEDS is well-documented and well-known among medics with any EDS knowledge.
Our autonomic nervous system (ANS) runs bodily functions over which we have no control (unconscious functions) - e.g. heart rate/beat, blood pressure, the ‘Flight or Fight’ response, pupil dilation/constriction, sweating, salivation, digestion, tears, temperature.
The ANS is split into two parts - Sympathetic and Parasympathetic.
The Sympathetic part controls stress responses, the ‘Fight or Flight’ responses, raising the heart rate when stress or danger is present.
The Parasympathetic part is known as the ‘digest and rest’ system, calming us down.
Signs of Dysautonomia include:
- The digestive system not working (moving) as it should.
- Irregular heart rate (arrhythmia) and a heart beat that is too fast (tachycardia) or too slow (bradycardia). In those
with Dysautonomia, the heart can fluctuate between all three of these.
My Dysautonomia causes my digestive system to not move properly. I also experience frequent arrhythmias and tachycardia (even at rest).
My highest recorded heart rate when lying on a hospital bed was 188bpm.
POTS
Postural Orthostatic Tachycardia Syndrome has become pretty well-known in recent years than it was thanks to people posting about it on social media.
It is a type of Dysautonomia, but having it does not mean a person has Dysautonomia, which requires more widespread symptoms for a diagnosis.
POTS means postural (symptoms are caused by a change in posture), orthostatic (blood pressure), tachycardia (increased/fast heart rate), syndrome (collection of symptoms).
In POTS, when a suffer stand up from a sitting position or sits up from a lying position, due to the ANS not responding properly or quickly enough to the change in posture, blood pressure drops, the heart rate increases in response to this, and dizziness often happens.
Hypovolaemia (a lower-than-normal volume of blood) can contribute to symptoms, so glugging plenty of water in addition to usual daily drinks is important and can help decrease the dizziness.
Dural Ectasia
The best EDS specialist know that Dural Ectasia (DE) is often see in HEDS bodies.
Dr Alan Hakim, who worked under Professor Grahame, described DE to me as being ‘related’ to Spina Bifida. His words were:
“If Spina Bifida is at number one, something else is at number two, something else is at number three, then Dural Ectasia is number four.”
DE is identifiable by MRI scan. It means that the membrane around the bottom of the spinal cord did not form properly in the womb and it bags out/dilates/widens (ectasia) at the base of the spinal cord in the sacral (and sometimes lumbar) spine.
This means cerebrospinal fluid (CSF), the fluid in and around our spinal cord and brain, can build up in that area and cause the pressure to drop in the skull. This CSF drop can be agonising, cause debilitating pain and is only relieved (though not stopped) by lying flat and still.
It can also cause problems in moving and using your legs, pain in the lower spine, legs and buttock, and bladder and bowel issues.
DE can, in severe cases, cause the bones in the sacral spine to erode. A patch of coarse hair (like pubic hair) on the top of the buttock is often seen with DE.
As with POTS, increasing fluid in take can help by helping guard against dehydration and keeping CSF levels up.
Tarlov Cysts
Tarlov Cysts (TC) or Perineural Cysts were long said to be asymptomatic and never cause symptoms or issues. Thankfully, this incorrect idea is no longer so common among medics.
Due to the incorrect assumption that TC were always asymptomatic, they are often dismissed by ignorant medics and may not have been looked for when investigating symptoms. As was my case, patient with TC often faced dismissal by medics when trying to find help with the pain they can actually cause.
TC or Perineural Cysts form on the roots of the nerves as they leave the spinal cord in the sacral spine. They can occur in the lower lumbar spine too.
Symptoms can include severe pain in the lower spine, buttocks and legs, and bowel/bladder issue, and numbness/decreased sensation it the buttocks and legs.
Like Dural Ectasia, they can erode the spinal bones if they are large enough.
When the pressure of
the CSF drops, our brain drops in our skull, which can compress our
brain stem.
They occur when CSF builds up between the membrane around the spinal nerve and the nerves inside the membrane.
As with DE, the collection of fluid in the cysts can cause the pressure of fluid further up the spine and in the skull to fall.
When the pressure of the CSF drops (as it does with DE and these cysts), our brain drops in our skull, which can compress our brain stem.
This then causes another set of painful, unpleasant symptoms.
In my case, the group of cysts I have are large and severe.
The pain flares they cause are excruciating and make unmedicated childbirth feel like a walk in the park.
Treatment can include surgery to pack the cysts with fat but, due to my severe HEDS, surgery of any kind is not really an option for me as my healing is extremely poor, with stitched wounds reopening once sutures are removed, and even the stitches themselves leaving permanent scars.
As with Dural Ectasia, medics with EDS knowledge know that these cysts are not uncommon in HEDS bodies (because of the proteins making up the membranes around the spinal cord and brain).
Pseudo Arthrosis
Pseudo Arthrosis means ‘false joint’. It means that a broken or cut bone did not heal properly and the two ends of the break/cut did not fuse as they should.
In my case, I somehow fractured my spine and it didn’t heal properly. You can imagine that this gets painful.
This fracture happened in my lumbar spine, above my sacral spine where the cysts and Dural Ectasia are.
Degenerative Disc Disease
This is condition will be familiar to many reader (if you got this far!).
In Degenerative Disc Disease (DDD) the discs sitting between our spinal vertebrae become less hydrated, shrink and offer less cushioning than they are supposed to.
DDD is usually associated with age and is a common part of ageing. In my case, and probably because of HEDS, it started as a far younger age than usual.
As with DE and TC, sitting upright can become painful because of DDD – though for different reasons.
Osteitis Pubis
Osteitis Pubis (OP) means swelling in the joint where your pelvis meets at the front (the pubis symphysis). This condition cost the life of my second, unborn child.
In my case, OP was caused by a fall that happened because my left ankle dislocated due to HEDS.
When the pubis symphysis swells, there isn’t anywhere for that swelling to go.
OP is agonising, and that pain had me pretty much bedbound for ten years, and almost killed me because of how bad it became.
In most cases, OP is expected to stop after 6 weeks, maybe a few months.
Unfortunately, I have been suffering with it for 20 years and will likely suffer with it until I die.
Professors Grahame and Pope were confident they could cure my OP, but NHS Wales illegally refused to fund the six-week rehab programme in England.
When the pain flares, it hurts to stand, walk, sit, talk, breathe, move my arms, move my head…It just hurts.
The only way to try and avoid my pelvic pain would to stay still and flat on my back permanently.
My pelvic pain is incredibly hard to control, with even a combination of Co-codamol, Oxycodone and Fentanyl rarely taking the pain away completely.
I do have short periods of time (a day or two) where my pelvis won’t hurt, but simply sitting in the wrong position for ten minutes can cause it to flare up for weeks at a time.
Epilepsy
Epilepsy is another condition known to many. I developed the condition in 2020.
My first seizure was a focal seizure and I had no idea what was going on. After a couple more, I did some research and, as I have done with other conditions including HEDS, I diagnosed myself with Epilepsy, then sought professional medical attention leading to the diagnosis being confirmed.
Not only do I experience focal seizures, but I also have tonic-clonic seizures, where you drop like a stone, become unconscious and convulse. I have sustained injuries from these, including a black eye and scar from when my head hit the floor and I lay seizing in a pool of blood.
After tonic-clonic seizures, I can interact with others, wander around my house, move things and even cook, appearing to be normal, while internally I have no awareness whatsoever of what I am doing.
Epilepsy terrifies me.
Due to an ongoing legal case, I’m not going into any more details about my Epilepsy here.
It is documented that the incidence of Epilepsy in people with EDS is higher than in the non-EDS population. I have my own theory as to why people with EDS tend to have Epilepsy more than people without EDS, and maybe I’ll write about that in another feature.
Autism
Like POTS, Autism has received increased attention and become more known and understood in recent years.
And, like my Epilepsy, it is, for me, a recent diagnosis - a diagnosis I only sought after the Royal Marine Commando I talk about in Filthy said he thought I had Autism.
After researching (as I do thoroughly) and thinking for a while, I saw my local NHS Autism Service where a diagnosis was confirmed.
Due to the length of this feature, I won’t detail how Autism affects me here. All I will say is that being diagnosed with it was actually positive in many ways. It made me understand myself more than ever.
As my Autism isn’t severe in that I’m not non-verbal, for example, it is the least worrying of my conditions.
That’s not to say it doesn’t impact upon me and cause struggles.
It does.
But, compared to the rest, of my medical history, it’s the easiest to deal with.
Craniocervical Instability
Craniocervical Instability (CCI) means the skull is not properly attached to the neck.
CCI is not an uncommon occurrence in EDS bodies. It happens when the ligaments holding the skull to the neck’s vertebrae are not doing their job properly and the skull moves around too much.
In severe cases, surgery is needed to bolt the skull to the neck and hold it in place (fusion). I strongly believe my entire spine needs to be fused (thanks to HEDS).
I highly suspect I CCI, but have not bothered pursuing a confirmed diagnosis of CCI (yet - I might, or my most recent MRI scan may show some CCI signs) for several reasons including that fact that, as mentioned before, surgery is not an option for me due to my awful healing thanks to HEDS, along with my spine proving it cannot really heal itself by virtue of the fact I have the permanent fracture (Pseudo Arthrosis).
This poor healing also means that getting a UK surgeons to perform the surgery is next to impossible, leaving EDS/CCI patients having to raise hundreds of thousands of pounds to pay for private surgery overseas.
Melanie Horsham of Melanie’s Mission To Live (#MMTL) has severe CCI and has already had fusion surgery costing hundreds of thousands of pounds in total and is desperately trying to fundraise to pay it all.
You can help her either by donating to her campaign, or following her on Facebook and sharing her post and raise awareness of her terrible situation.
