Although we have all heard of the síndrome de DownIt almost always seems like something distant to us, something that only happens to older couples or those with a family history of it. The truth is that It is not necessary Having no family history or being too old means that when a couple receives the news that their child has this syndrome, their world collapses. The way this diagnosis is communicated, the support provided, and access to reliable information will be key to their well-being. emotional adaptation of the family and the future well-being of the baby.
What is Down Syndrome?
The human being has a genetic endowment of 46 chromosomes, organized in pairs, in their cells. These chromosomes are what determine the main features of that human being: eye color, height, certain abilities, and also the predisposition to diseases hereditary. When a baby appears who has 47 chromosomes, with 3 chromosomes instead of 2 in the By 21, appears the síndrome de Down (trisomy 21). This genetic peculiarity determines that the baby will have a variable degree of intellectual disabilities, some physical features characteristic and some associated pathologies, fundamentally problems and malformations cardiacthyroid disorders, muscle hypotonia, and an increased risk of certain infections.
Among the physical characteristics most frequently found slightly smaller headslanted palpebral fissures, a flattened nasal bridge, large-looking tongueshort neck and, in many cases, a single palmar crease (a single line crossing the palm of the hand). The hands and feet are usually somewhat more small than usual, and due to hypotonia, the joints may be more flexible. You can see some of these features in 4D ultrasounds in this article about visible features on ultrasound.
A key aspect of Down syndrome is the hypotoniaThat is, lower than normal muscle tone. This can delay some developmental milestonessuch as holding their head up, sitting, walking, or transitioning to solid foods. These milestones are generally achieved by following the same sequence than in other children, but somewhat later. The stimulating environment, therapies, and family support have a significant influence. determinant in how they are achieved.
Contrary to what is often thought, not all people with Down syndrome have the same degree of cognitive impairmentIt is common to find certain learning and language difficulties, but the spectrum is broad and, with appropriate support, they can achieve good level of autonomy, inclusive schooling and social integration. Today it is known that the life expectancy and quality of life The situation of people with trisomy 21 has improved enormously thanks to specific medical checkups, early intervention programs, and a change in social attitudes.
Psychologically, people with this syndrome are often described as happyVery affectionate, with great emotional capacitysensitive and, in many cases, with special musical senseIt is not true that they all have the same character, but it is observed that, when they feel accepted and stimulated, they develop a rich personalitywith their own interests, tastes, and projects.
In addition to physical and cognitive characteristics, specialists point out that children with Down syndrome may present other associated health conditionsas the cardiovascular problemshypothyroidism, visual and auditory impairments, or an increased risk of celiac disease. That's why it's essential to organize, from the first months, a multidisciplinary medical team (pediatrician, neuropediatrician, cardiologist, rehabilitation specialist, speech therapist, occupational therapist…) to support the child's development and guide the family.
Beyond medical interventions, the role of parents in the daily stimulationPlay, language, and emotional support are irreplaceableConsistency and affection in therapy significantly influence the development of children with Down syndrome, because environment in which they grow It is one of the factors that has the greatest impact on its development.
Prenatal diagnosis
During the realization of the first ultrasoundAround week 12, we will have a blood test to determine biochemical markers (two main hormones). Combining their values with the ultrasound data and mother's age what is known as triple screening or combined first-trimester screening. This test offers the statistical risk that our child may have Down syndrome or other trisomies such as Edwards syndrome.
Currently, it is also available tests that detect fetal DNA en maternal blood (non-invasive prenatal screening). These are highly sensitive and specific tests that, without risks to the pregnancy, help to refine the calculation of the individual riskIt is important to remember that both combined screening and these fetal DNA tests are screening tests, non-diagnostic: they indicate probability, not certainty.
If these tests suggest that there is a high riskThe medical team may recommend a invasive test to confirm the diagnosis, such as the amniocentesis or chorionic villus sampling. These tests allow direct study of the fetus' chromosomes and offer a definitive diagnosisHowever, they carry a risk of complications that must be explained in detail.
In the successive ultrasounds that are performed systematically during pregnancy may also appear ultrasound markers (signs in the baby) that lead the specialist to suspect that they may be dealing with a child with one of these syndromes. At this point, the quality of the doctor-family communication It is essential: explaining what an isolated marker means, what real risks it involves, what options are available, and what decision times are reasonable helps to reduce anxiety.
Risk
The appearance of a baby with Down syndrome is, in most cases, a fortuitous event which can occur regardless of the mother's age. Even so, it has been shown that risk of the appearance of Down syndrome increases with maternal age, especially from the 40 yearsHowever, because there are more pregnancies in younger women, a significant proportion of children with trisomy 21 are born to mothers under that age. If you're wondering what the probability of having Down syndromeThere are specific resources that help to estimate it.
Having a family history It does not automatically predispose you to suffering from it again, although in some rare forms it can increase the risk and it is advisable to consult with a doctor. genetics specialistIn any case, this background information must to be taken into account always to assess the need for individualized genetic counseling.
How to deal with it
When you get to definitive diagnosisThe couple usually undertakes a rather long series of visits to specialists long and harrowingAlthough the tests are carried out without delayYou have to wait for the right moment to practice them and then wait for the definitive resultsBy the time they finally receive the news, they have already been through days of anxiety y mixed feelings.
This is not the time to rushIt is essential to take time to think calmly about the real options Ask all the questions you need when they come forward. decide knowing the probable future that specialists predict for that baby, but also by listening to other families who have already gone through that process. Programs like “Listening Families” They facilitate contact between families who have just received the news and others who already have children with Down syndrome, allowing them to share concrete experiences, fears and positive coping strategies.
The feelings that appear in the couple are usually very intense. It is normal to feel disoriented and dazed, have conflicting emotions such as sadness, love, tenderness, frustration, hopelessness, guilt or anger, and not being able to creer What we have just been told. They are frequently sought out. possible causes and one even experiences a feeling of culpability because of something we believe we have done or failed to do. It is also possible to feel angry with oneself or with one's partner because of the way it is being received and facing the news.
All of this is normal And it's important that the couple allows themselves to feel it. To give space to emotions. express them freelyCrying, talking to trusted people, or a professional can be a good way to start. dealing with the situationSpecialists in perinatal psychology and grief explain that only by allowing oneself to go through all emotional phases (denial, anger, negotiation, sadness, acceptance…) we will be able to integrate that real child who comes with his own rhythm and specific needs.
Possibilities for the future
When the diagnosis is done in a way prenatalthe couple can decide To continue the pregnancy or terminate it depends on current legislation and one's value system. Both decisions are very difficult And sometimes, later on, the family may wonder if he took the proper decisionAt this stage, it is especially useful to have a ethical and psychological guidance that accompanies, without judging, the decision-making process.
When the diagnosis is made once the child has already is born or the couple decides go ahead with pregnancy, it is important contact as soon as possible with the different associations de fathers and mothers of children with Down syndrome. They already have traveled the path you are beginning to walk and can share your experiences, their way of experiencing it, coping with it and overcoming it, as well as guide you on aid, educational resources, programs of early intervention and your child's usual needs.
It is also important to have the help of a psychologist that helps you see your reactions for what they are: the normal response from a family to the onset of a complex health condition. In parallel, it is crucial to organize the preventive medical care that children with Down syndrome need (cardiological check-ups, hearing and vision tests, thyroid function control, growth monitoring, recommended vaccines, etc.), ideally coordinated from primary care with support from specialists.
Just as important as this is the role of your extended familyPrepare the siblings, grandparents, uncles..., explain to them what it means having a baby with Down syndrome And what might you need from them? They, too, can have feelings. found or even from culpabilityAccompanying them in their own process will help them to be a strong support networkIn many cases, their help will be essential to organize therapies, provide rest time for parents, or take care of siblings.
Little by little all the pieces they will fitIt is true that a child with Down syndrome often needs a lot of work around himEarly intervention, physiotherapy, speech therapy, and closer medical monitoring. But he's also a child. wonderful and in Little timeYou won't be able to imagine life without them. You will learn to celebrate every little achievement (a gesture, a look, a new word) and you will discover abilities that you may not have imagined.
In this process, programs such as Families Listen They are especially valuable. Through one or more meetings, a family that has just received the diagnosis meets with another welcoming family in a safe space. intimacy and trustwhere you can ask questions freely, express your fears, and see firsthand what daily life is like with a child with Down syndrome. These types of initiatives not only offer emotional understanding and supportbut rather act as a gateway to others professional support programs and parent groups.
We humans have different dimensions that can be defined in many ways. We are a body, but we also have a dimension psychological, another one feelings and emotionsand a dimension spiritual or of the sensesAnd we need all of them to be cared for and in balance so we can feel good and face our daily lives with greater serenity. Just as when we receive a physical blow our body activates mechanisms to regenerate and heal Damaged tissues, our mind, and our emotions also activate internal resources to cope with such shocking news as this.
Only when we allow ourselves to go through the different emotional phasesBy doubting, getting angry, looking for explanations, crying, and sharing what we feel, we can go working through grief for that idealized child we imagined. To give ourselves time, to treat each other with patience and respectAsking for help if we need it and supporting each other as a couple allows us to reach a deep acceptance of the real son we hold in our arms.
I still remember the day they first told us our son might have Down syndrome. I put on a face like I understood what they were saying and stoically endured it until the doctor finished speaking, unable to hear much more. When we left the doctor's office, I managed to catch up with... take two or three steps Before I broke down and cried, all our dreams, plans and projects about that much-desired child crumbled with me.
A thousand questions came to mind, but the most important one was: and now that? What will it be like to have a child with Down syndrome? Will they be severely affected? Will they walk? Will they be able to lead a normal life? My mind went through so many cases I had seen in my practice… Now I was on the other side, on the side of the mothers of children with special needs, with everything I had seen that entailed.
And it began duelBecause we have to grieve, we must go through it. When we become parents, we all start dreaming, projecting onto that child, imagining what they will be like, what they will do, what they will like, what sports you will sign them up for, what career they will study… A thousand castles in the air that feel very real because our child is real. But with the diagnosis of Down syndrome or with the possible diagnosis (sometimes it's not clear at first, and there's a period of uncertainty), that projected child disappears. We lose him. And it's a actual loss which one must go through.
Only by going through the grieving process and giving up that idea of being a son that It should walk a yearwho must begin to eat solids, speak, read and write within a set time, we will learn to love and enjoy son that we really haveassuming he will do it (or not) when he is ready. We stop living dependent on him clock and comparisonsand we open ourselves to getting to know our real child, allowing each achievement, however small, to... surprise and excite.
Only when we are the most balanced and accompanied If possible, by accepting reality and doing everything we can to ensure the whole family is as comfortable as possible day to day, step by step, we can help and bring out the Maximum potential of our little ones. Seeking professional help, relying on other families, trusting the medical team, and respecting the child's pace are pillars of this journey.
Over time, many mothers and fathers of children with Down syndrome recount that, although the moment of diagnosis was one of the hardest of their lives, today they feel that their child has brought them a new way of looking at the worldto value what is important and to enjoy every step forward. The news hurts, frightens, and stirs emotions, but with adequate support, accurate information, and networks of affection, the family can build a fulfilling life together with that child who, with their own unique way of being, will be a constant source of... learning and love.
María Tudela, Occupational Therapist in Red Cenit Valencia
