Demystifying Down's syndrome: all there is to know about DS

Down's syndrome or Down syndrome (DS) is a condition in which a person is born with an alteration in their genetic make-up. Dr Waceke Nganga Kombe, a gastroenterologist, says that DS is not a disease per se but a health status that puts you at higher risk of other illnesses. It also presents with different symptoms in different children.

She reckons the reason most insurance companies shy away from covering DS is that they say it is a congenital disorder- meaning acquired before birth. Many of the insurance companies have exclusion clauses that include congenital disorders. I however think that Down's syndrome should be handled the same way they would handle other chronic illness. By giving a cover, but maybe increasing the premium paid.

Dr Waceke says that Down's syndrome is suspected immediately one looks at the baby. "This is because there are some typical features. These include upwards slanting eyes, flat nasal bridge, protruding tongue and short fingers among others."

"Diagnosis, however, is confirmed through karyotyping. That is examination of the genetic make-up and identification of an anomaly at Chromosome 21," she says.

The most common abnormality at chromosome 21 is Trisomy 21. This means that instead of having two chromosomes and that position, the patient has three. There are other variations of Chromosome 21 that would result in Down's syndrome.

She further says that it is not hereditary but rather sporadic. "However, it is thought that one has a higher risk of getting a baby with Down's syndrome when you conceive after the age of 35 years. This is mainly for the Trisomy 21 group. For the other types, the occurrence doesn't depend on age," says Dr Waceke. It is not known what causes Down's syndrome.

To cope with DS, Dr Waceke advises that we need to first understand the condition. "These children may look different and may acquire their milestones at a slower pace, but with the right environment and support they can achieve just as much as other children."

Initially the parents and community are very apprehensive about the diagnosis of Down's syndrome and so you will find that it is delayed in many instances. As soon as it is suspected, the caregiver should either confirm or rule out the diagnosis. Then the parents needs to be educated about the possible health implications and guided through screening tests.

The management of this patient will then take a multidisciplinary approach including nutritionist, physiotherapist, occupational therapist psychologist and the clinician. Where possible, enroll the family in a support group. This helps them come to terms with the condition and access required services jointly. It also helps to bring down the costs that come with the management and reduce the stigmatisation.

Children with Down's syndrome are at risk of many complications such as hearing loss, visual impairment, delayed motor milestones, heart defects, compromised immunity, feeding difficulties, constipation, mental development delays and a host of others.

After diagnosis, the parents are guided through the initial screening to look for the commonest complications. Depending on the complications the child has, the management is then tailored to address those issues.

Therapy makes a big difference. As I said earlier, these children can reach the same milestones as other children but may take longer to get there. Take for example walking. With regular physiotherapy, they will be able to walk.

The multidisciplinary approach is a necessity for children with Down's syndrome.

On whether these kids can lead a normal life, Dr Waceke says that it depends on the severity of the complications. "Many children with Down's syndrome are able to lead normal lives engaging in income generating activities and taking care of themselves. They can be very artistic and have powerful photographic memories. They would do well in art related courses," says Dr Waceke. Decision on integration into the regular school curriculum would be made on an individual basis.

The support affected families receive is also very important.

This is from the medical fraternity as well as the community.

Fathers should not walk out of the homes and leave the mothers struggling. Families should not isolate this family or even worse still accuse them of being bewitched. The insurance companies would play a huge role in ensuring that the parents do not also have to worry about the cost of treatment in addition to everything else that they are going through.

Some of the health challenges associated with Down's syndrome are

• Delayed diagnosis. Doctors are aware of the condition but find it hard to label a child. The confirmatory tests are expensive and therefore, not easily available to everyone. As a result, the child goes in and out of hospital without the parents understanding why they child appears different and is frequently ill. In some cases there could also be denial from the parents.

• Lack of wholesome management. Once diagnosed, the challenge of how to manage this child then comes up. They require regular visits to many healthcare providers. This comes at a cost. The child also requires close supervision and many mothers are forced to resign from their jobs to take care of their children. These challenges can overwhelm the parents and the child ends up not getting optimal care affecting their outcome.