A few days ago, before I wrote this article, a friend asked me what my next topic was going to be and I told him it was something about down syndrome.
Hiis response was, “Is that something Nigerians are interested in? They’d rather not know or take it as a random deformity and resort to prayer if they have a down syndrome child because it’s not a disorder Nigerians are well informed about.”
So, I’ll do well to elaborate and create the much-needed awareness on this health challenge as the world marks Down Syndrome Day today.
Also, I will advocate for necessary support for individuals living with down syndrome, which is marked every year on the 21st of March since 2006.
What is a down syndrome?
Down syndrome is a genetic condition also called trisomy 21. It is a medical condition where the 21st chromosome of a child has an extra copy that causes delays in development and physical and mental disabilities.
Chromosomes are long DNA molecules with part or all of the genetic materials of an organism. Humans have 23 pairs of chromosomes,46 in total, and one of each pair is inherited from the mother (XX) and the other from the father (XY). In a down syndrome case where each chromosome has a pair, the 21st chromosome encounters some error or mutation and doesn’t separate properly, it creates 3 copies or 2 and a partial copy instead of the normal 2 copies. It’s this partial or extra copy that causes the disability and distinct facial features in the individual.
Down syndrome symptoms and diagnosis
A child with down syndrome usually has very obvious features at birth which includes;
Flat facial features
Wide short necks
Slant or upward eyes
Smaller head and ears
Poor muscle tone and excessively loose joints
Smaller nose with a flattened bridge
Babies born with this syndrome are average size at birth but their growth and development will relatively slow down which is responsible for stunted height and other disabilities.
Down syndrome is not preventable neither is it curable but it can be managed even though it is debilitating. Not all down syndrome cases are the same, some are mild while others may have severe symptoms. In the early 90s, people living with down syndrome didn’t live for more than 10 years of age but now they live to as much as 50- 60 years if properly managed.
There are however ways of testing for down syndrome before the child is born through prenatal testing. This test is usually a choice by parents who may be at risk or who just want to be sure the fetus does not have any genetic disorder. A diagnostic genetic testing is done either by a blood test or amniocentesis where the fluid is drawn from the amniotic sac in the uterus and tested to see if there’s an extra number of chromosome 21. This test is optional and offers the parents the option of aborting or getting prepared to manage a down syndrome baby.
According to CBS News, the rise of prenatal testing in Iceland has led to an almost eradication of down syndrome in the country because women who receive a positive test for down syndrome terminated their pregnancy. This sounds like a great way to stop this syndrome but what do you think about it?
Support for people with down syndrome
Although people with down syndrome get to live a longer life these days, they often need special care and attention. The parents also need support and education as to how to manage the infants. The children often have impulsive behaviour, short attention span, and slow learning abilities. That’s why they require special education so as to accommodate this disability. In most developed countries the government is fully involved in trying to eradicate or have laws like the federal law that favours people with down syndrome and other disabilities to get therapy and other forms of special education.
It is estimated that one in 1,000 births have down syndrome worldwide. This disorder has no cure or corrective measure, it is said that some people may be at risk of having down syndrome kids or may be carriers of the mutated gene.
Women who have babies from 35 years of age and men from 40 are at risk of reproducing a down syndrome child.
If you already have a child with down syndrome, you are likely to have another one.
Because it’s a genetic disorder, it can be passed down genetically, although this is not common.
Down syndrome complication
The extra chromosome or the partial chromosome can determine the gravity and severity of the down syndrome in different individuals. Some may be mild based on the type of down syndrome. There are three types of down syndrome; trisomy 21, mosaicism, and translocation.
Trisomy 21 is the most common type and may have all these complications while the other types may be very mild.
Symptoms include :
Obesity
Heart defects
Early dementia
Hearing and vision problems
Asthma and breathing problems
Seizures
Low thyroid function
Takeaway
People with disabilities don’t have it easy in Nigeria because the system is not all-inclusive yet and a lot of people are not even aware that people with disabilities like this need special care.
A UK-based organisation began a project in 2018 in Lagos Nigeria to help individuals with the syndrome.
According to the organisation, the project is meant to “support people with Down syndrome to become confident self-advocates, able to speak up for themselves and other people with Down syndrome”.
If you are living with down syndrome as well, it will be great to join a support group because no one should live in isolation especially with such a condition, and parents, guardians, and families must support this group of people without any form of discrimination in spite of the visible distinctive featured.
Know more about what world down syndrome day 2021 seeks to achieve and see how you can support and be a part of this cause.