Rachel's Fight Against Bone Growth

Aim

I am fighting against my extremely rare genetic condition, to gain a better quality of life, to receive treatment, and manage my symptoms.

What I Need- Cryotherapy, and a new wheelchair. 

My Story- My name is Rachel, I am in my mid-twenties, and I have an extremely rare genetic condition called Fibrodysplasia Ossificans Progressiva, which affects 1 in 2 million people. The condition is described as-

"One of the rarest, most disabling genetic conditions known to medicine, FOP causes bone to form in muscles, tendons, ligaments and other connective tissues. Bridges of extra bone develop across joints, progressively restricting movement and forming a second skeleton that imprisons the body in bone. There are no other known examples in medicine of one normal organ system turning into another." International FOP Association.  

There is no cure for the condition, so the main treatment revolves around symptom management. The other element that makes this condition difficult for doctors to manage is that it affects every person differently, there are no two identical cases in the world. Because the condition is so rare, a lot of doctors have never heard of it, which can cause issues when needing medical treatment.

Personally, I suffer with a lot of pain, which is a combination of muscular and neuropathic in nature. I am on a long list of medications, including Oxycodone (Oxycontin), to help me manage day to day. I have around 13 different medications that I take on a daily basis, without which I would not be able to function. 

Overview of my symptoms:

         - Hearing loss in both ears, meaning I wear hearing aids 

         - Extra bone growth in neck, shoulders, spine, ribs, and hips

         - Chronic pain

         - Restricted mobility 

         - Require a wheelchair in most situations outside of the home. 

I have had a lot of different therapies growing up, including physiotherapy and hydrotherapy. I have been on pain management courses, and had support from a lot of different specialists, including palliative care. The only time I am not in pain is when I am in water. The condition has now progressed to a point in which we have just had a wet room installed, as I can no longer use a bath. I used to have a gym membership, where I would have use of a hydrotherapy pool, however due to the Cost of Living crisis that we are currently in, that was no longer feasible. 

Recently, one of my doctors recommended that I try Cryotherapy, to see whether it helped my symptoms- swelling and pain- in particular. After researching, I discovered that it involves standing in a chamber that is then filled with liquid nitrogen, bringing the temperature down to -150 degrees! This works by interrupting the pain signals travelling through the nerves to your brain. A three minute session costs £75, but the benefits last for 4-5 days, and the results are immediate. I came out after my session, all of my clothes were falling off me, as my swelling had disappeared, and I was completely pain free! The doctors have said that I could have this treatment on a weekly basis, however it is not available on the NHS, and would have to be self funded. 

I feel like cryotherapy has given me my life back. I can go out with my family, I can enjoy getting out, doing things and living life! It has made such a massive difference to my life. However, although the cryotherapy has given me this freedom, I am still restricted. I currently have a second hand wheelchair, that has broken, and is no longer safe for me to use. I found a cheap powered wheelchair, which is not really suitable. There are a number of issues, but the battery does not last very long, the chair itself is not adjustable, so I get uncomfortable very quickly in it, and it is so heavy, I cannot lift it myself, and it takes two people to transfer it in and out of the car. 

I am hoping I can fundraise enough money to allow me to have some regular sessions of cryotherapy, and also be able to put some money towards a suitable wheelchair. Any support you can offer would be much appreciated, thankyou!

This project successfully funded on 5th September 2025