Doctors have found a life-changing treatment for a nine-month-old baby suffering from a rare, incurable disease that caused her to have thick dry skin.
The baby, who has not been named, arrived at the Nino Jesus Hospital in Madrid weighing just four kilogrammes (8.8 lbs).
Her weight was half of what is expected in babies her age and is considered severely malnourished with a risk of death, according to the World Health Organization (WHO).
The nine-month-old suffers from ichthyosis, which is a rare incurable skin disease that produces thick scaly skin, with varying degrees of symptoms or areas of the body affected, leading to serious discomfort and increasing the chances of infection.
The condition kept the baby from feeding or sleeping properly as she would often cry from stinging sensations.
One of the doctors that treated her, Rafael Correa, said in a press statement obtained by Real Press that the patient was missing an important protein in charge of maintaining her skin’s structure and which her body does not produce.
He added that her skin was “unstructured” and though the genetic mutation cannot be helped, the inflammation process caused by the disease could be treated to reduce the symptoms.
Doctors studied 150 different variables and used a mathematical algorithm to compare them with healthy children.
They found the patient had two cells that were linked to her inflammation.
They applied a medicine used to treat psoriasis in adults and which is also directed at the altered cells causing the baby’s symptoms and subsequent malnourishment.
The patient has since gained enough weight to be considered average and her symptoms have almost disappeared giving hope to doctors and patients suffering from the illness.
However, she has not been cured and will require periodic injections of the treatment as doctors hope her immune system will adapt with time.
The President of the Spanish Association for Ichthyosis, Jose Maria Soria de Francisco, told Real Press: “We should encourage doctors to take initiative and find solutions to give patients their daily routine back.”
He explained that there are 36 types of ichthyosis, each with their own prevalence, but using the findings from this case, scientists could find a way to offer individual treatments to some of the 300 people suffering from it in Spain.
Patients suffering from ichthyosis are required to spend approximately two hours every day applying cream-based skin treatments to relieve their symptoms.
The medicine can cost them anywhere between EUR 250 to EUR 500 every month as it is not covered by the Spanish health care system.
Soria de Francisco, whose 14-year-old daughter suffers from the disease, said: “If we, the parents, are able to not show our fears, insecurities and stress, they [the kids with the illness] can grow up with a lot of strength.”
He explained that one of the most challenging parts can be found among other parents who tell their children to avoid approaching kids suffering from the illness, to avoid being infected, even though “the reality is that this disease cannot be infected” and can sometimes cause families to require psychological attention.
The president hopes investigations into the rare disease will continue to help improve the patient’s quality of life as “ichthyosis does not know borders and can affect a rich or a poor family and you never know when it can be you”.