March 3: World Day of Congenital Defects

by Claudia Ravaldi

Today is World Birth Defects Day: this day is dedicated to research and prevention, but also to all affected families and children. It is therefore a precious opportunity to raise awareness on these problems, much more widespread than it seems and very little known or in-depth, sometimes even by health professionals. Congenital defects are in fact many, with different characteristics and different levels of severity and / or morbidity. Some of them are treatable, others are incompatible with life.

In recent years, Marchofdimes has been doing an excellent job of raising awareness also on congenital defects, as well as on prematurity. Receiving a diagnosis of this type is a destabilizing life event, which in itself would require proper care and adequate accompaniment to the couple. This rarely happens in our country, for a number of reasons, including cultural ones ( read the article by CiaoLapo ).

I remember well that day in November 2005, when faced with an ultrasound suspicion of trisomy 21 due to a dilated renal pelvis of my son Lapo, my colleagues insisted for hours for two days in a row, to do amniocentesis. What up to five minutes before was my second child Lapo became “the suspect down”, to be diagnosed immediately. My child, for fear of the pathology, became something else, a probable case to be investigated in order to “decide”. No one who has thought about how to tell us, my husband and me, that suspect, or has given us the possibility to choose whether to investigate or not. On that occasion they were afraid of my child, “perhaps” sick. If they had asked us, they would have understood that in the absence of incompatibility with life we were not interested in exploring and piercing the belly. He was our baby, he remained our baby, and eventually, when he died at full term from cord thrombosis, it turned out he wasn’t “down” at all. And we have found that stillbirth, like the child with birth defects, is very scary. It overwhelms man in his fundamental certainties. It still happens today, it happens very often. That the fear evoked by an unfortunate diagnosis first infects the operator and the circle of family and friends than the parents themselves, split between pain, disbelief and the instinct to protect themselves and their children. In ten years of working with CiaoLapo I have met many parents of dead children. Some, like mine, for maternal problems, others, like Ania, like Riccardo, like Sofia, for fetal problems. Incredible how, once the first moments of fear, loss, rejection, anguish, pain have passed, all those children for their parents return to being authentically what they are, that is, their children, even if they are dead. Love yourself unconditionally, sometimes held back, sometimes let go. But always children worthy of respect. Instead.

On the other hand, the child with fetal pathology is an uncomfortable child. We would rather it were not there. We would prefer that all the defects of the world cease to exist, become extinct, to make us feel serene. Parents would rather not tell their stories, which are so scary. We women would rather be silent, we and our complicated pregnancies, we and our children with healed or incurable problems. One would prefer the blanket of ignorance to the power of knowledge. Those petty phrases “it happens very rarely” “it won’t happen again” “are there cases in the family? Didn’t you know it was hereditary?” they often amputate the possibilities of deepening and understanding, of knowing and therefore of making the best decisions. And often, all this happens out of laziness and fear. Small little creatures of 500 grams are scary because they have a “congenital defect”. Also in 2016.

The child with fetal pathology is a child destined to “move” our consciences in the depths. A child about whom, after being diagnosed, we end up knowing very little, apart from the name of the pathology and the extent of his problem. It is not uncommon for parents to no longer be able to look at the monitor in specialized centers after diagnosis. It is not uncommon, after the diagnosis, that the child, called by his name until a few weeks before, becomes “the fetus”. How much pain behind these omissions. How much damage these omissions do when they are not congruent with the parents’ plan.

The ancestral fear of fetal malformations has always accompanied pregnancies: this was especially true when there was no possibility of knowing the health of the child before birth, and in any case there were no technical means to help sick newborns. This is still true today, in very poor countries where women do not have access to minimal care. In our country, it is possible to monitor pregnancy and to know in a very short time if our baby has chromosomal or organic pathologies. We are fast enough to diagnose, and for many problems, treatments are possible, not just palliative. However, the technical progress of science has not gone hand in hand with psychological and relational progress: the psychological, psychosocial, cultural and relational aspects intrinsic to a difficult diagnosis are still all to be recognized and faced. Starting from the minimum knowledge of what causes a diagnosis of this type in the parents and families affected and what happens after a therapeutic interruption of pregnancy.

Summing up:

Birth defects are a global public health problem, with important implications relating to knowledge, prevention whenever possible and childcare. Almost eight million babies are born with a birth defect every year worldwide, mostly in low-income countries. In Italy, the number of children with congenital defects is about 25,000 every year, 480 per week. A very important problem not only for the high number of affected children, but also for the effect that a diagnosis of fetal pathology has on parents. Problem that we know well in our association, and which we deal with by offering support to families, regardless of the decision following the diagnosis, regardless of whether it is a diagnosis of incompatibility with life, regardless of the decision to terminate the pregnancy or not.

We take care of mother and child health protection from before conception, because we know how the basics of a healthy pregnancy precede the beginning of pregnancy by many months. We know that in families where a congenital defect has been diagnosed, anxiety becomes a faithful companion in all subsequent pregnancies, and we know how careful accompaniment and correct grief processing could reduce anxiety and allow you to experience a more peaceful pregnancy. and more confident. All this is made very difficult by the taboo of the child with pathology, combined with the taboo of the stillborn child. Two conditions that are still not culturally accepted in our country.

Congenital defects include both chromosomal changes and malformations of individual organs (especially the heart, and the neural tube) or systems. A small number of children have a multifaceted picture, often incompatible with extrauterine life. Every child and every family should be guaranteed the best possible care, without obstinacy of any kind, without additional suffering, neither physical nor psychological. Fair information, empathic and non-judgmental staff. Neither towards the disease presented, however frightening and destructive, nor towards the decision taken, either to carry on the pregnancy or to interrupt it.

We have been working for years for the correct communication of adverse events in pregnancy, including the diagnosis of pathology, and for the effective accompaniment to possible choices. We also work on the prevention front, whenever possible.

In particular, the latest data confirms once again: a fair percentage of congenital defects, those related to the neural tube, could be avoided thanks to the use of folic acid, as correctly reported today by Quotidiano Sanità: “Every year in Italy about 450 babies are born with neural tube defects (anencephaly, spina bifida, encephalocele). By taking folic acid before conception and up to the end of the 3rd month of pregnancy, this number would be halved.”.

The commitment to tackle birth defects is shared by many organizations internationally. The International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) is a WHO-affiliated non-profit organization that connects surveillance and research programs from around the world to investigate and prevent birth defects and lessen the impact of their consequences. The US Centers for Disease Control and Prevention are also paying particular attention to this major public health problem and have launched the Birth Defects COUNT ( Countries and Organizations United for Neural Tube Defects Prevention program.

CiaoLapo today more than ever turns his thoughts to shooting stars and their parents. And the courage it takes, in our country, to tell our stories and those of our children with dignity and firmness, despite the many taboos. # CiaoTabù is a promise. For all of us.

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