A few days ago I met the story of this baby who was born about three months ago in Neiva, Colombia, with a strange disease that causes me to have white blood and that surprised the doctors and specialists of the Hospital.
Well, the disease is not so strange really, because you all know her, what is rare is to be born with her. It is a pathology called familial hypercholesterolemia and it is due to a genetic disorder, an evil whim of nature or, to be more honest, an alteration resulting from the relationship of their parents, who are cousins to each other.
The baby is the son of Margoth Alarcón Quibano and Vicente Jiménez Alarcón, and his illness is due to a genetic disorder on chromosome 19 which causes your body to not eliminate low-intensity lipoprotein ("LDL cholesterol", also known as "bad cholesterol"). By not eliminating it, the amount of this cholesterol in the blood of this baby is much higher than that of any other baby, the concentration being so high that it can be seen with the naked eye, so fat makes your blood almost white.
The baby was born two weeks earlier than expected, weighing 1,900 grams and a height of only 36 cm. One may think that how it is possible that he was born so small having so much blood fat ... probably because the image we have of people with high cholesterol is that of those who eat in an unbalanced way, seeing such an imbalance also on the scale. However, in this case, that excess circulating fat has not helped the baby to be larger, precisely.
This is the second case lived in the University Hospital of Neiva in the last 20 years. According to studies, the probability of suffering from this disease is one in a million inhabitants, although the cause of this case would have to make us think that there should be more babies with familial hypercholesterolemia.
As I have said before, the disease was generated by mutation due to cosanguinity, as the baby was the result of the union between relatives. Surely many of you know cases of marriages in Spain that are first cousins and their children do not suffer from this disease (although it is possible that their children were born with another type of mutation, everything must be said).
The most curious of all is that the disease was not seen in the hospital at birth, but it was two weeks later, when his mother decided to take him to the hospital to see that he was decayed, without strength.
Having no space in the hospital to be admitted, he was referred to a health center. There they decided to do a blood test, at which point the nurse observed that the color of the baby's blood was very strange. Half of the tube with the sample was red and the other half was white.
Given such a rarity, the baby was sent back to the hospital, where he was then admitted to the ICU. There they began testing until they found the cause of the baby's discomfort: he suffered familial hypercholesterolemia. At that time they decided to take some measures to avoid further problems, such as stopping breastfeeding, high in fat, to give him a fat-free diet and reduce the risk of clogging his arteries.
The baby will always have to eat a fat-free diet in order to prevent cholesterol and triglyceride levels in his blood from rising and, of course, he will always have to take medication to try to keep his levels as low as possible.
As always said in these cases, hopefully grow healthy and strong and that can lead a normal life, like the other children. He is a child, he deserves it.
