Overview
John Freke is the doctor that first shed light on the new disease on April 14th 1876 discovered on his patient in London. He wrote about it in a letter to the Royal Society. He mentioned in it that it's something that he has never seen before. Dr. Freke talks about the sydrome and describes it as,
"They arise from all the Vertebrae of the Neck, and reach down to the Os Sacrum; they likewise arise from every Rib of his Body, and joining together in all Parts of his Back, as the Ramifications of Coral do, they make as it were, a fixed bony Pair of Bodice." (John Freke)
"They arise from all the Vertebrae of the Neck, and reach down to the Os Sacrum; they likewise arise from every Rib of his Body, and joining together in all Parts of his Back, as the Ramifications of Coral do, they make as it were, a fixed bony Pair of Bodice." (John Freke)
Body Systems affected/physiology
There are two body systems that are affected. The major system is the skeletal then the respiratory. The skeletal system is effected because of the ossification of the connective tissues. The ossification can best be described as stone when looking at a skeleton with the disease. The bone grows and connects to and from each bone which can lead to a variety of problems. In the end the main cause for death is when it effects the respiratory system. The rapid growth of the bone can severely restrict breathing since the person no longer has normal bone growth surrounding the lungs. The lungs can be restricted.
Symptoms
- Malformed big toes
- Difficulty in movement and joint stiffness caused by the fusion of joints and bones from the replacement of connective tissues with bones
- Change in shape and posture
These are the most common symptoms that people will get with Fibrodysplasia Ossificans Progreesiva. The most evident symptoms would have to be the posture of the individual. The posture is something people notice first among big toes when looking at someone else.
Diagnosis
Stone man syndrome is caused by being passed down through genetics. The first form of action all doctors take when dealing with this disease is taking blood work. The blood work will determine if they have the qualities for having Fibrodysplasia Ossificans Progreesiva. Doctors are looking for a mutation in genes that code for a specific protein that is responsible for the normal ossification of bones.
Treatments
There is currently no cure for the disease. Something that doctors prescribe to those with the disease are high dose corticosteroids. They help reduce the intensity of muscle and connective tissue inflammation. It also aids to delay the formation of new bone which is the cause for stone man syndrome. Doctors heavily advise patients to not be active since any single trip or fall can lead to sever bleeding, bruising, and sometimes internal damage.
Quality of life
Living with this disease is a massive everyday struggle. Patients have to deal with it from when they are asleep all day every day. It's a disease that greatly interferes with everyday activities. Most people can still do things such as drive and watch t.v since this does not take a burden on their body. Most people with stone man syndrome are only able to open their mouths 1 inch. This can make it very difficult to eat normally and consume fruits and vegetables which is why they must be cut smaller or sometimes even grounded up for easier consumption. As far as life expectancy, it all depends on the severity of the disease and when it will start to effect the respiratory system. Once the respiratory system begins to be affected, patient's lives will soon start to take a down fall and there is no stopping the growth surrounding the lungs.
Case Study
An 18 year old girl named Seanie Nammock from London has been battling and living with stone man syndrome. She was first diagnosed with the disease at 12 years old. Her mother took her to the doctor when she fell and a large hump appeared on her back. Like any other fall a bruise would ofcourse be formed. The doctor wrote it off and explained to her and her mother that she would be fine and that it would heal soon within a week. This was certainly not the case. Instead of healing the inflamed are where she had fallen was then replaced with new bones that had grown. She was then taken to another hospital at the result of excruciating pain. The syndrome has caused her neck and backbones to fuse together making it impossible for her to lift her arms beyond her waist. She constantly lives in fear of falling or being injured since the result would be new bone growth. She still had mobility but her mother is saddened by the fact that she will eventually be bedridden for most of her life. Her sister started a campaign to raise money to find a cure for stone man syndrome.
Sources
https://thechirurgeonsapprentice.com/2014/12/17/disturbing-disorders-fop-stone-man-syndrome/
http://www.stonemansyndrome.com/