A mother-of-one who fears she could internally decapitate herself if she turns her head the wrong way is desperate to raise £135,000 for life saving surgery.
Rachel Pighills, who grew up in Chorley, has a series of spinal conditions including atlanto axial instability and basilar invagination (infolding of the skull), which means her brain is sinking into her spinal canal and her skull is sliding down onto her neck.
Her neck has become too unstable to support the weight of her head. She has to wear a neck brace to prevent her looking to the left, which would cause the brain stem to partially dislocate. If it fully dislocates, the spinal column could separate from the skull, causing internal decapitation and possible death.
The 33-year-old’s condition is so severe, only three surgeons in the world can operate.
As a result, she needs £135,000 for two operations in Barcelona. The first will be to remove her odontoid bone which is compressing her brain stem. She will then have to be fitted into a halo device as the removal of the odontoid will cause further instability. After a week she will then have the second operation to fuse her skull and neck together. She will be required to remain in the hospital in Barcelona for six weeks to receive around the clock care while she recovers.
Rachel, who moved to Worcester five years ago, said: “It was so rare, there were only three surgeons in the world that can operate: two in America and one in Barcelona. I had an online Skype consultation with Dr Gilete in Barcelona and I flew over for scans earlier last month. He said it was at a critical stage because of compression in the brain stem.
“When I look to the left, the brain stem partially dislocates. If it fully dislocates, I would be internally decapitated and I would instantly die. I am in a neck brace 24 hours a day, apart from when I have a shower. It restricts my movement completely. The risk of developing another neurological symptom or having an accident is extremely high.”
Rachel’s health problems began two years ago after she went to see the doctor about losing weight. She explains: “I was diagnosed with addison’s disease (a long-term endocrine disorder in which the adrenal glands do not produce enough steroid hormones). In November 2017, had an MRI scan on my pituitary gland in my brain to see if I had a tumour which was causing this, but there wasn’t.
“I was in hospital quite a lot as I kept going into addisonian crisis, or adrenal crisis. This is where the adrenal glands stop working properly and there is not enough cortisol in the body."
The following year, a blow to her head led to further tests and she was diagnosed with: cranio cervical instability, sub-axial instability, atlanto axial instability, atlas assimilation, basilar invagination causing severe brain stem compression, platybasia, chiairi malformation, scoliosis and cervical medullary syndrome.
She explains: “Fast forward a year - I was stood on the bed and struck my head on a ceiling fan. It knocked me down onto the bed. After that, things spiralled out of control and I saw so many specialists.
“I was eventually diagnosed with postural orthostatic tachycardia syndrome (POTS), which is a condition in which a change from lying to standing causes an abnormally large increase in heart rate.
“However, this is a secondary disease so knew there had to be something else. I enquired about my MRI records back in 2017, which revealed I had chiari malformation, where the lower part of the brain pushes down into the spinal canal. It all happened so fast. The neurosurgeon said his main concern was basilar invagination, which happens when the top of the spine pushes into the base of the skull and I would not be able to support my head anymore."
To raise funds, Rachel’s family and friends in Lancashire have been taking part in sponsored challenges. Sandra Parker, of Buckshaw Village, walked from St Annes to Fleetwood, and Samantha and Carl Stear, of Chorley, completed the Wigan 10k. Bobbie Sullivan is organising a walk from Barnoldswick to the Lake District.
Rachel adds: “Raising money and having this surgery would save my life. Even the surgery is risky as there is a chance I could die, but without it, that could happen. My main fear is what would happen to my 12-year-old daughter, Ellie, and husband Guy if anything was to happen to me.”
Visit www.facebook.com/rachelsfightforlife/ which has a Go Fund Me link.