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There are several diseases and genetic mutations that can affect a human being at the time of birth. The causes for this type of disease to happen are usually genetic and it is very difficult to prevent and prevent some of them from reaching babies.
Especially when it comes to more rare diseases, such as Proteus syndrome , for example, which until now has only been registered on 200 occasions worldwide, the matter is even more delicate even due to the lack of cases to be studied. .
But there is already a lot of information about the disease and so we will explain everything about its symptoms, how it affects a person, how treatments are done, as well as aspects of the life of someone who has the disease.
What is Proteus Syndrome?
It is a congenital disease whose main characteristic is the unrestrained growth of organs such as bones and skin, among other tissues. All of this growth can cause gigantism in the limbs, especially in the arms and legs.
The disease does not usually manifest itself in a baby at birth, having its first symptoms between 6 and 18 months of age. It is an extremely rare disease and therefore it is almost never heard of, although there are some famous cases.
Proteus Syndrome was first described in medicine in the mid-1970s and is named after the Greek god Proteus, who was able to change form. But although the description and studies of this disease are relatively new, there are reported cases from the 19th century, especially within the famous circus of aberrations that existed at the time.
Only in 2011 were researchers able to be sure of the real cause of Proteus Syndrome. It is caused by a change in the AKT1 gene , which produces a protein called AKT1 kinase. This protein is one of the responsible for the development and growth of cells in our body and a change in this gene ends up causing the disease.
Even though Proteus Syndrome cases are extremely rare, people who have the disease tend to suffer a lot because of their appearance, even resulting in serious psychological problems such as depression. It is not possible to detect this change in pregnancy and, consequently, it is also not possible to prevent a child from being born with this syndrome.
Symptoms of Proteus Syndrome
Proteus syndrome can be confused with other diseases precisely because this change in genes can lead to other health problems. However, there is a way to identify this syndrome through some symptoms such as:
- Gigantism, especially in the feet and hands
- Deformations throughout the body
- Excessive skin fold
- Spine Problems
- Heart problems
- Accelerated growth in the first years of life
Some of these symptoms can be confused with those of other diseases such as gigantism, for example, but the difference is that Proteus Syndrome occurs in different parts of the body and affects the person far beyond the feet and hands.
Treatment of Proteus Syndrome
Unfortunately there is no cure for the disease and treatments are done to reduce some of its main symptoms. Due to the wide variety of problems that a person who has this syndrome can present, each treatment will be different from the other.
Some patients may have major problems with skin growth, which can be partly resolved with surgery. Others have major spine or heart complications and need to take specific medications. Everything will depend on the patient’s clinical condition and what the doctors deem necessary.
Limitations of a Disease Carrier
One of the biggest difficulties that a person who has Proteus Syndrome has is the prejudice involved because of his physical illness. It is very common for human beings to want to get away from what is considered abnormal, which a few years ago was even worse.
People in these conditions were rejected even by their families and forced to look for spaces such as circuses of freaks, where they were exposed as attractions for other people to see.
Nowadays, respect and knowledge about diseases have made this type of thing disappear, but life for those who have this type of disease is still very difficult, especially due to the difficulty of socializing and interacting with people at any level.
We often avoid talking about certain subjects like Proteus syndrome, either out of fear or not wanting to think about this type of case. But even if it is a rarity, knowing more about the disease goes far beyond knowing what its causes, symptoms and treatments are.
This also serves to show us historically how human prejudice has reached frightening levels and how important it is to know what it is about in order not to make the lives of people who have this type of disease even more difficult.
See also: Hip Dysplasia – Diagnosis, Causes and Treatment
My name is Dr. Alexis Hart I am 38 years old, I am the mother of 3 beautiful children! Different ages, different phases 16 years, 12 years and 7 years. In love with motherhood since always, I found it difficult to make my dreams come true, and also some more after I was already a mother.
Since I imagined myself as a mother, in my thoughts everything seemed to be much easier and simpler than it really was, I expected to get pregnant as soon as I wished, but it wasn’t that simple. The first pregnancy was smooth, but my daughter’s birth was very troubled. Joana was born in 2002 with a weight of 2930kg and 45cm, from a very peaceful cesarean delivery but she had already been born with congenital pneumonia due to a broken bag not treated with antibiotics even before delivery.
