At any moment Rachel Pighills could be ‘internally decapitated’ and instantly dead.
The 33-year-old has a rare condition called atlantoaxial instability, which causes excessive movement between the first and second vertebrae of the neck, which hold the skull in place.
This means that each time she turns her head to the left, Rachel’s spine partially dislocates. Each time this happens she increases her risk of paralysis, and one wrong move could cause total dislocation, or ‘internal decapitation’, which would result in her death.
Rachel, who has a 12-year-old daughter, is forced to wear a neck brace to prevent this from happening. She’s now trying to raise £135,000 through GoFundMe to get surgery from an expert in Barcelona, who’s one of only three surgeons in the world who is able to fuse her neck and skull.
The mum also has cervical medullary syndrome caused by brain stem compression, which causes excruciating headaches, dizziness, and fatigue.
Doctors believe her atlantoaxial instability is caused by a connective tissue disorder.
Rachel lives not only in constant pain, but in fear of paralysis and death. She’s desperate to get help.
‘I feel like I can’t do anything,’ says Rachel. ‘I go to work for a few hours a day, come home and lie horizontally on the couch. I do not do anything else.
‘I’m a determined person and I have to try and do what I can. I know I can’t give up.
‘In May 2019 I spoke to a specialist based in Barcelona who said my case is severe and I’m at risk of internal decapitation. Turning to the left causes my cervical spine junction to partially dislocate and I could die instantly if it fully dislocates.
‘My neck has become too unstable to support the weight of my head, meaning I have to take extreme care.
‘I can only wear my neck brace for four hours a day, because of the risk of muscles wasting away, which will be even more dangerous.
‘I try and avoid turning from side-to-side. I can’t move to the left side.’
The surgery wouldn’t ‘cure’ Rachel, and she might still experience pain and other symptoms. But the operation would remove the decapitation risk and save Rachel’s life.
Rachel has been living in fear for two years.
Back in 2017 she was perfectly healthy, able to run around and play with her daughter and go horseriding.
In August of that year she started taking a new medication for an overactive immune system. She experienced sudden vomiting, lost two stone in six weeks, and was hospitalised three times in the space of a month or so.
Even when she stopped taking the medication, the symptoms continued. An MRI ruled out a tumour, which led to Rachel being diagnosed with Addison’s disease, a rare disorder of the adrenal gland that means someone doesn’t produce enough cortisol and aldosterone.
Rachel was given steroids to treat this, but continued to lose weight.
‘I was having tremors in my hands, caused by adrenaline, I was exhausted all the time and would just fall asleep at any moment,’ she explains. ‘It got to the point where I could not drive my daughter to school in case I fell asleep at the wheel.’
Offered no other diagnosis, Rachel assumed she must have Addison’s disease, until in August 2018 she hit her head on the back of a ceiling fan and her symptoms worsened.
She said: ‘A week after that I went into adrenal crisis due to water retention and was admitted to hospital. It happened again a week later and I was back to hospital.
‘After I returned home I was in constant pain. My head felt really heavy on my shoulders and I would get dizzy and lightheaded.
‘I started researching myself and came up with postural tachycardia syndrome (PoTS) which is an abnormal increase in heart rate that occurs after sitting up or standing, causing dizziness amongst other things.’
From there followed more tests, doctors visits, and finally an official diagnosis of PoTS.
Then in May 2019, a neurologist also diagnosed Rachel with Chiari malformation, a condition that causes the lower part of the brain to push down into the spinal canal.
‘I posted my MRI scan in a Chiari malformation Facebook group and people were commenting, saying Chiari was the least of my problems,’ said Rachel.
‘The dizziness was getting worse. It felt my head was too heavy for my neck. At work I would have to prop up my head with my hands. It felt like an enormous weight. I couldn’t hold it myself.
‘I was getting really bad headaches. The worst was at the bottom of my head. It felt like something was pushing and going to pierce through my head. Sitting up would be agony.
‘It would last for hours. It was totally debilitating. I could not physically stand up. My legs would just give way and in the end we had to hire a mobility scooter for me.’
In June Rachel saw another neurologist, who diagnosed her with platybasia, a flattening of the skull base, and basilar invagination, an infolding of the base of the skull, which occurs when one of the vertebra migrates upwards.
She paid £1,300 for a private upright MRI scan and asked for the images to be sent to Dr Gilete, a top neurosurgeon in Barcelona. He diagnosed her with atlantoaxial instability – where the vertebrae holding her skull in place become unstable and dislocated, hydrocephalus, which is an accumulation of cerebrospinal fluid within the brain, scoliosis, a curvature of the spine, and cervical medullary syndrome, which is caused by brain stem compression.
Luckily, a private health policy she has through work has covered a lot of her costs, but Rachel has still spent almost £2,000 of her own money on consultations.
She is now looking to raise £135,000 to cover an operation in Barcelona, her accommodation for an estimated six week stay while she recovers and transport.
‘I will have to have two operations,’ Rachel explains. ‘The first will remove the odontoid bone which is compressing my brain stem and the second a week later will fuse my skull and neck together.
‘I will have a three week stay in hospital and then three weeks in an apartment with nurses.
‘I just want to have it done as soon as possible.
‘No one really knows what’s caused it. I still wonder if it’s connected to my reaction to the new medication I took for an overactive immune system.
‘I feel I have missed out on so much. I can’t go to my daughter’s assemblies and parents’ evenings. I tried to go and was walking to a classroom when my legs gave way and I fell into the printer. If I’d banged my head it does not bear thinking about what might have happened.
‘I hardly sleep. I can’t go out really. A trip to the supermarket is a day out for us.’
If you’d like to donate towards Rachel’s surgery, you can do so through GoFundMe.
Source: Read Full Article