Down syndrome is a ‘condition’, not a ‘disease’

Down syndrome is a genetic condition that causes a range of developmental challenges in those who have it. Statistics show that one in every 700 babies born today has Down syndrome.Is actually the presence of something MORE that causes the problem?Those with Down syndrome are born with an extra copy of chromosome 21. This is known as Trisomy 21. It means they have a total of 47 chromosomes instead of 46. Therefore, it leads to certain challenges related to the development of the brain and body.It is named after the British Dr John Langdon Down, who fully explained the condition in 1866 and listed all the characteristics related to individuals with the condition.Most importantly we must realise that Down syndrome IS NOT a disease – it’s an accident of nature.How do you know if someone has Down Syndrome?The condition is normally identified by paediatricians soon after the child is born due to some tell-tale features such as low muscle tone, and other physical characteristics.However, the condition has to be confirmed by genetic test that confirms the presence of the extra chromosome which can be done after birth (if not tested earlier).Screening and diagnostic tests carried out when the mother is pregnant can also determine if the child has Down syndrome.What are some of the physical characteristics of a person with Down syndrome?There are individuals with a range of Down syndrome and it is not accurate to say that they all have the same physical characteristics. However, some common features include:Simian Crease in the palm of hands (single straight line)Slanting almond shaped eyesFlatter bridge of noseShort webbed neckSmall ears, generally shorter than others their ageTongue thrustingLower muscle toneSmaller hands and feetModerately lower IQ levelsWho carries the risk of having a baby with Down syndrome?There is no scientific evidence of any confirmed reason why a child is born with Down syndromeSome trends noticed indicate that older parents especially mothers above the age of 35 years, and those in late life pregnancies carry higher risk of having children with special needs including Down syndrome.In some countries, inter-family marriages are common, and a larger number of children with genetic issues and developmental challenges are noticed in such marriages including having children with Down syndrome.What are the health-related challenges faced by people with Down syndrome?Some children with Down syndrome are born with congenital heart diseases including hole in the heart. Thanks to medical advancement, if these are identified early on, they can be successfully treated and rectified.Many children with Down syndrome have eye sight issues and may need to wear corrective lenses. They are also prone to eye infections.Some children with Down syndrome also have hearing issues and get frequent ear infections.Upper respiratory tract infections are also common among children with Down syndrome.Many of them will have issues with Adenoid and Tonsilitis and may require surgery to overcome frequent infections and associated illness.One condition to be mindful about is Obstructive Sleep Apnoea which could prove fatal if not attended to.What are the treatments for Down syndrome?Down syndrome is a ‘condition’ and not a ‘disease’ so there is no treatment.Some parents are misguided and go after alternative cures and promises which are not supported by research, nor approved by recognised bodies. Sadly some people exploit such parents and their fear and ignorance.Intervention focuses on helping the child reach their full potential. This is done through the provision of special education if required, then mainstreaming the child, encouraging higher studies in academic or vocational streams, and providing the appropriate therapeutic interventions such as speech therapy, occupational therapy, behaviour therapy, physical therapy among others.Any treatment provided is aimed at addressing the associated ‘health issues’ and not the ‘condition’ of Down syndrome.What is the general outlook for the future of individuals with Down syndrome?These days, individuals with Down syndrome grow well into old age. Some of them even outlive their parents.Some get married but may not be able to have offspring due to their inability to reproduce. However if they did, there is a high risk of having offspring with Down syndrome.Most children with Down syndrome these days go into mainstream schools as more and more schools around the world accept differently-abled children into mainstream schools.Some of them go on to vocations that suit their interests. Some find full time jobs too.Individuals with Down syndrome are known to have obtained driving licence and drive their own vehicles.There are many extremely talented artists, musicians, sportsmen, models, and actors with Down syndrome.What are some unique life’s learnings we can get from persons with Down syndrome?One habit that we can learn from those with Down syndrome is to smile always in spite of challenges. You will normally find them smiling and laughing at the simplest of things. Life is amusing and there is so much to enjoy. Sadly, today’s world gives us less opportunities to enjoy the smaller joys. Those with Down syndrome teach us how it’s possible to smile amidst any challenges.Don’t take anything too seriously as nothing is permanent. This too shall pass and life will go on.Give it your best shot even if you know you have weaknesses. Those with Down syndrome have so many challenges and weaknesses, but it does not curtail their desire to give it a shot and to do their best while at it.Stick to values and discipline in life – and sometimes be stubborn about it. Many of those with Down syndrome are attached to their patterns and habits, and have strong values and discipline in life. They are reluctant to change any of this, and may seem obstinate and stubborn at times. But they know what they are doing.Love unconditionally without expecting anything in return. In today’s world where most people do something expecting something in return, and where relationships and interactions are based on give and take, you will notice that those with Down syndrome walk around with truckloads of love to give away. And they do not expect anything in return from you. Being around a person with Down syndrome is a therapeutic experience for anyone in this crazy hectic world that we live in.l Dr Rajeev Thomas is Founder and Managing Director of HOPE Qatar Centre for Special Needs & Father of a son with Down syndrome