Congenital abnormalities refer to birth defects. These can be identified before the baby is born or born. These include Harlequin ichthyosis, a very rare condition that affects the skin and puts the life of the baby at risk. Here is the story of Breanna, a little girl suffering from this disease.
Congenital anomalies or malformations affect the developing fetus. When these abnormalities are not severe, they have no impact on the life of the baby, however, in some cases they can create a real handicap or worse put the life of the baby in jeopardy.
Harlequin ichthyosis, a rare disease
Harlequin ichthyosis, in particular, is a very rare genetic congenital disease that affects the baby's skin and poses a danger to his life because it increases the risk of infections. This condition is due to a mutation in the ABCA12 gene, which leads to a deficiency in a protein helping to normal skin formation. Harlequin ichthyosis babies are born with very thick skin, consisting of large, unrelated plaques.
This disease involves several risks, the difficulty in breathing caused by the restriction of the movements of the chest following the thickness of the skin.
Discover the story of the little Breanna born with this illness and who was warmly welcomed by her parents, demonstrating once again the importance of the unconditional love of parents.
Courtney and Evan Westlake are a couple and parents of a little boy Connor. When the family knew that Courtney was pregnant, they were very excited to welcome a new baby home.
After each medical check, parents were more and more reassured about the health of their baby. According to doctors, everything was fine. A few months later, the parents received another news: they were going to have a daughter. Connor was going to have a little sister.
Courtney and Evan were very happy and were already beginning to imagine their new life with the presence of their daughter. Courtney gave birth to little Brenna a few weeks before the New Year, but unfortunately they could not take her home with them.
Their baby was born with a skin wrapped in a kind of thick yellowish layer. She did not move and was all covered in wounds. Little Brenna needed intensive care immediately to survive.
Courtney and Evan could not hold their child in their arms until two weeks after his birth.
After a series of tests, doctors diagnosed Harlequin ichthyosis, a genetic congenital disease. According to Brenna's mom, her daughter's skin develops 10 times more than normal, because the body believes she lacks a protein to form a skin with uniform appearance.
This disease causes redness all over the body, which affect the eyes, mouth, nose and ears.
By learning about the complications of their child's illness, Courtney and Evan were aware that the task would not be easy. They had to be very careful to prevent infections. They were washing their hands constantly and despite this, Brenna had between 8 and 10 skin infections.
Courtney sometimes found herself in delicate situations, where strangers pointed her daughter at the finger or made unpleasant comments. She could, however, understand the reaction of the children, because her daughter was a little "different".
On the other hand, for Courtney the reaction of adults was just inadmissible. Often they tried to keep their children away from her, something that greatly annoyed her mother.
She would have liked the other parents to be more understanding and take the time to approach her daughter and talk to her, instead of avoiding her.
But despite all these constraints, Brenna has become a safe little girl. A trust nourished by the love and support of her parents and her little brother who taught her that she should never feel different.
Despite the constraints they encountered, the Westlake parents are very proud of their daughter.
Brenna is like any other child of her age. She enjoys herself, plays and loves her family.
Her parents are convinced that she will be able to achieve everything she dreams in life. They simply have faith in it.