1 in a million

On Tuesday 16th November 2021, I was given hope that I have been searching for for years. A future that I was beginning to think wasn’t possible. A chance to get my life back. Not only to be pain free, but to be free to live my life again.

My name is Amy, I am 27 years old and I was born with a condition called Cleidocranialdysostosis (also known as cleidocranialdysplasia) which affects 1 person in a million. I have lost count of how many medical appointments I have had during my lifetime, with so many surgeries and meeting specialists from all over the UK.

Cleidocranial dysostosis (CCD) is a rare genetic condition that affects teeth and bones, including the skull, face, spine, collarbones and legs. The bones in people with CCD are formed differently and are more fragile than normal (this is why I dislocated my knee very recently just from sitting down!) and I was born without any clavicles at all. I have had so many operations on my mouth and jaw since the age of around 9, at Guys Hospital in London, and I am still in between operations at the moment. The main part of my condition is that I have severe kyphoscoliosis (curvature and rotation of the spine) which has worsened over time, gradually decreasing movement, and increasing pain.

In August 2020, I fell down a flight of stairs. Due to my condition, my spine is much weaker and therefore cannot deal with impact like most peoples can. Not only did I fracture my spine, but it has also meant that my kyphoscoliosis has deteriorated rapidly, reducing my quality of life significantly over the last 18-24 months.

I am now on a lot of medication just to get me through each day, and medication to help me sleep through the pain at night. I have tried physiotherapy, chiropractor, tens machines etc, but nothing is working. Because of the medication and the pain, it has meant I’ve been off work a lot. I work for the emergency services, and I absolutely love my job and the people I work with. Being away from work and people so much has led to a real decline in my mental health.

I had seen multiple NHS specialists as a child. After being put back in touch with them recently due to my deterioration, they came to the conclusion that surgery was not an option on the NHS and they had no other solution to prevent my pain. With all these barriers, I honestly felt like I was drowning. So when I saw the private doctor this week, it was such a huge relief to hear him say that despite my situation being very complex, he is confident he can perform spinal fusion surgery and give me a better life going forward. Hearing these words was genuinely like someone pulling me out of the water, and offering me the help I need.

The surgeon has said that he can get me in for surgery as soon as January 2022, however the estimated cost for this surgery is between £40000 and £50000 (I will be sent the official figure ASAP). This cost not only covers the surgery, but all of the aftercare, a bed in the high dependency unit, and initial rehab that I will need within a hospital setting.

The surgeon has also said that a full recovery will take up to 12 months. This is massively important to me, as I am due to marry my fiancé Matt in June 2023. The NHS consultants initially told us that booking our wedding for then, was plenty of time for me to have surgery and recover which is why we went ahead and booked it for then. With the hurdles that then followed, it seemed like the wedding might not go ahead. I have dreamt of my wedding day since I was a little girl, and to now know I still have hope of walking down the aisle pain free, feels like a dream come true.

A lot of people reading this will have had no idea that I have this condition. I have always been very private about it, due to not wanting to draw attention to it and having been bullied in regards to it as a child/teenager. I have worked hard since the age of 17, and have never asked anyone for help like this. But I am left in a situation where I am desperate for the help and support of those around me. If there is anything any of you can do to help me reach my goal, it would mean the absolute world to me and my family.

Thank you for taking the time to read this and understand the journey that I have been on.

Amy xx