The Diagnosis that changed a Mother’s Joy (2)

Isaac , 8-year-old boy living with Down syndrome.

What is Down Syndrome?
Before now, the name ‘Down syndrome’ is a name that was not familiar until one is either a parent with a child who has it or one is closely related to one. It is a health condition that has affected many children worldwide.
Yet, many do not know about its existence in the developing world, despite the fact that a large number of children with this condition are spread across different communities and localities in Africa.
The emotional breakdown of parents of children with Down syndrome starts from the mismanagement or improper handling of the way and manner the diagnosis is communicated to parents, sometimes in a very unpleasant manner that conveys hopelessness.
Most doctors we met with, said little about the condition but concentrated more on the allergies associated with the condition, sometimes living the parents more curious, devastated and confused. Some of them would refer the affected parents to read about the condition online, at the same period when such parents need someone to sit them down and discuss about the condition.
For instance, how can a woman who is worried and confused be asked to go and read about the condition online? The woman needs to know first basic facts about the condition, then can go online when she has come to terms with the child’s challenge. With that, she can now go ahead to read get more information online and in other relevant books.

Hence, doctors who specialize in the relevant fields and physiotherapists who specialize in children should arm themselves with up to date information about Down syndrome so as to assist the affected parents with basic information they should know on how to accept and care for the affected children.
Here, an attempt would be made to define and explain the condition in a lay man’s language, avoiding many medical jargons. This is to help parents who may find themselves in my shoes, whom from the onset of my child’s condition was denied adequate information until the physiotherapist attending to him decided to own up and let me know what Down syndrome is and how it affects children. This was before I took him to a teaching hospital-the University College Hospital, Ibadan, Oyo State,Nigeria.
Before I went there, I had already accepted my child and made up my mind to love and fully care for him. My sincere thanks go to the female physiotherapist in Oni and Sons Children Hospital, Ibadan who took the bold step to explain to me in detail about the condition.
Let me now explain a little bit of what I know about the condition. I do hope this analysis would even help people in the society who see them with an attitude that leaves much to be desired to have a balanced view of what the condition is and what it is not, so as to have their minds re-orientated and begin to form positive attitude towards Down syndrome children. An attempt will also be made to answer these questions such as:
What is Down syndrome?
Characteristics/features
The causes
Is it a disease?
Status of children with Down syndrome
Their common allergies i.e. the diseases they are prone to.
Here we go-
Down syndrome: Down syndrome is a genetic condition which occurs when a child is born with 47chromosomes instead of the usual 46 chromosomes common in all humans.
Down syndrome is named after John Langdon Down, the British doctor who first described the condition in 1887. It was in 1959 however, that an extra chromosome was identified as the cause.
But Down syndrome can be detected before and after a baby is born, the test to detect whether a fetus has Down syndrome is done by collecting some fluid from the pregnant woman’s umbilical cord. Such tests are mostly available in the advanced countries like the USA and Great Britain, among others.
Children with Down syndrome are usually identified by physical characteristics which are common to them; some children show some of these features while some show a quite number of them. Some of such features may equally be seen in other children,so genetic diagnosis is required to confirm the condition.
Some of the physical features associated with Down syndrome children include the following:
Low muscle tone, {baby looks floppy};
flat facial features,{smallish};
upward slant to the eyes;
small skin folds on the inner corner of the eye;
small shaped ears;
single deep crease across the centre of the palm;
flexibility of joints;
protruding tongue;
smaller toes and fingers;
shorter in height as children and adults; and
short neck; etc.
Down syndrome affects the intellectual and physical development of affected children, and could cause physical deformation in acute or severe cases or when physiotherapy treatment is not accessed as a result of non-availability of the service, or as a result of ignorance or nonchalance on the part of the parents.
The Causes: When a woman conceives, the fetus inherits 46 chromosomes from its parents i.e. 23 chromosomes each from both the man and the woman. But analysis of the genetic composition of a Down syndrome baby reveals it has 1 extra chromosome to make 47 chromosomes in all. Chromosome 21 is the genetic material that is usually affected.
It is the extra 1 chromosome that causes the mental and physical development challenges of the Down syndrome babies.
Up till now, scientists do not know the actual cause or causes of the formation of the extra chromosome, but research continues on this; and since the actual cause has not been discovered, prevention cannot be categorically provided.
Despite the fact there is no known means of preventing the condition presently, some scientists observe that women who give birth at the age of thirty five and above are at the high risk of having babies with Down syndrome. This is still an observation under debate because recent statistics show younger women can also have these babies.
Statistics: It affects 1 out of 800 babies born in the United States of America in recent times.
From Down syndrome’s definition, we can conclude that it is erroneous to believe the general misconception that negative spiritual forces or demons are responsible for the condition, especially in this part of the world- Nigeria. It is sheer superstition.

To be continued… 

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