Doctors have discovered a life-changing therapy for a 9-month-old baby who has a rare and incurable illness which makes her skin highly thick and dry.
The baby was brought by her parents at the Nino Jesus Hospital in Madrid and weighed only 4 kilos.
The weight was half of what is expected for babies of its age and it’s actually considered malnourishment with a risk for death, notes the WHO.
What Kind of Rare Diseases Does the Poor Baby Have?
The baby was diagnosed with ichthyosis, a rare and incurable skin disease which triggers formation of thick scales with a long list of symptoms that cause high discomfort and elevate the risk of infection.
The baby was struggling to sleep and being fed and it cried for hours because of the unpleasant symptoms.
One of the doctors who participated in the treatment, Rafael Correa, said that the patient had this condition probably because of an insufficient protein that plays a role in keeping the skin’s structure.
Although they were unable to fix the genetic mutation which decreased the skin’s structure, the inflammation by the illness could be treated.
The doctors decided to apply a medicine use for psoriasis treatment. Since this therapy, the baby reached the needed weight and the symptoms diminished significantly.
This disease usually presents itself at birth; but it can also happen in early childhood. The main cause for it is a genetic disorder.
Namely, the children who inherit one defective gene from the one parent only usually experience a milder form of the illness.
The babies who inherit two of these genes usually develop severer cases.
How to Recognize this Rare Skin Disease?
This condition is usually shown through dry and scaly skin, thick scales, scales that are white, gray or brown, a flaky scalp, and painful and deep skin cracks.
Despite managing to address the baby’s symptoms, a cure for ichthyosis is still unavailable. The baby will therefore probably need additional injections of the medication.
The doctors hope her immunity will be able to adjust.
However, the treatment isn’t affordable- it may cost between 300 and 600 US dollars.