A Little Girl Woke Up With Mysterious Bruises, And It Took Forever For Doctors To Figure It Out

Her parents just couldn't believe it.
Ian Anglin October 8th 2017 Science
Here we have the story of Bo, a 4-year old girl from Worcester, UK. She was a healthy and happy child, just like her friends - until one day she woke up to discover a lot of different dark bruises covering her legs. After some prolonged diagnosis period, the doctors concluded that she is suffering from Purpura fulminans, a rare type of complication that arises from the chicken pox virus - a disease which many people suffer at least once during their childhood.
The First Time She Noticed the Bruises
Bo, as well as her entire family, was shocked on the morning they discovered their daughter's mysterious bruising. She was just a 4-year old from Great Britain, and everything was perfect with her health - she didn't even have any allergies.
Purpura fulminans
She was rushed to the British ER (perhaps it is not called "ER" across the pond!), where the doctors tried to contain the condition. They also diagnosed the aforementioned disease - Purpura fulminans, the rare type of chicken pox related complication.
Protein C
The condition first arrises due to a lack of Protein C in the body. This is not related to Vitamin C - a type of vitamin that is easily supplemented via pills. With a Protein C deficiency, the blood in the body starts to thicken, and thus reduce its flow.
Forming Blood Clots
Every day that the disease progresses, the blood becomes thicker - eventually becoming so thick and slow flowing that blood clots begin to form. This was causing Bo's bruising, but if not treated it could eventually cause her death.
First Discovered in 1981
This is not a disorder that has been studied for a long time - it was only discovered in 1981, so not a long time has passed for medicine to be researched. It is believed to be primarily caused by genetic issues, so it is not a malnutrition problem.
One of the Rarest Conditions in the World
Here we can see a map of the UK, but the disease can occur anywhere in the world. It is very rare though - only 0.5% of the general population carries the genetic markers that can lead to a Protein C deficiency - but not everyone that carries the marker will get the disease.
No One Tests for Protein C Deficiency
Since it is such a rare disease, doctors do not typically test patients for a Protein C deficiency. This is why so many people can actually be suffering from Purpura fulminans, but not get any treatment. That can end up very bad for them.
Short Window of Opportunity
It is very bad news that Protein C deficiencies are not properly diagnosed - as once the disease activated and the symptoms start to show, the window of opportunity for a successful treatment is very short - in some cases, it can be less than a week.
It can be Fatal
Just as any other serious illness, if Purpura fulminans is left untreated for a prolonged period time, it can easily lead to skin necrosis and disseminated intravascular coagulation. You especially don't want to have skin necrosis - this is when your entire skin tissue dies and FALLS off.
About Disseminated Intravascular Coagulation
I know I mentioned that skin necrosis is bad, but Disseminated Intravascular Coagulation can be just as deadly. What this symptom means is that several different blood clots form together (so it is more serious than a normal blood clot) and they limit blood flow even further.
Multiple Organ Failure
The more blood clots a person carries, the higher the chances of organ damage or failure occurring - in some cases, this can even affect MULTIPLE different organs at the same time. A scenario like this would be untreatable by modern medicine.
She Was Saved Just in Time
Bo is a lucky 4-year old. Her illness and resulting blood clots were detected just in time, and she was properly diagnosed in a hospital in the UK. The doctors lead a successful treatment effort, and she is now completely healthy.
Not Out of the Woods Yet
Even though the doctors saved Bo's life, they still had some bad news for her parents - there was a chance that her legs would need to be amputated, and this was not an unlikely scenario - in fact, the odds were more on amputation.
Skin Grafts to Save Her Legs
The doctors figured out a genius treatment option - they repeatedly used skin grafts on her legs in order to save her skin from necrosis. This was not guaranteed to work, but they had to work with the time and resources that they had.
Mission Accomplished
I can now bring you the good news - the treatment (the medicine, the skin grafts and everything else) worked out GREAT and Bo managed to fight off the complication and keep her legs. The doctors are hopeful that she will not have the same problem again.


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