Treatment for Down syndrome and condition management

Care starts at birth

During the physical examination, a baby will also be assessed for any obvious signs of potential problems. A baby with Down syndrome will be tested for medical problems, particularly with the heart, thyroid and eyes.

Problems or defects detected and diagnosed early are usually better managed, ensuring that the early days of life are more comfortable and a child can develop at a healthy rate.

Once diagnosed and all relevant checks and tests have been conducted, a doctor will put together a comprehensive treatment plan to ensure that a child remains as healthy as possible as he or she grows. Different stages will require different phases of treatment and services. The plan will focus on the stages of a child’s life, from babyhood, through childhood and also note important things which can be prepared for ahead of adulthood.

Treatment throughout the course of an individual’s life will involve regular medical check-ups, physical therapy, speech therapy, occupational therapy, nutritional needs and counselling. Regular medical check-ups are important for identifying, managing and monitoring an individual with Down syndrome’s overall health condition. Regular check-ups are important from the time of birth, and throughout a person’s life. During the first year, eye problems in particular are common and will be carefully assessed during check-ups. Many with Down syndrome have a higher chance of developing certain health problems and serious medical conditions. Early detection is best for optimum treatment.

Physical treatment will also involve:

• Medications – these can include antibiotics for the treatment of infections and thyroid hormones to treat an underactive thyroid gland, and supplements, amongst others relating to an individual’s personal health.
• Surgery – If a baby is born with congenital defects, surgery may be highly recommended to correct defects of the heart or spine, as well as obstructions and problems with the bowel.

During early stages, speech therapy and physical therapy are critical and can help to ensure that a baby / child develops sufficiently enough to better enhance their quality of life during adulthood. It will take time and patience from everyone involved, but a child will learn to master a variety of skills.

Encouragement can go a long way, and chances are parents will find themselves surprised by just how much a baby or child with Down syndrome can accomplish. He or she may be slower at learning how to talk, walk or even eat by themselves, but they can and will do so over time. The important thing to keep in mind is that a child with Down syndrome is not incapable of developing. They will develop the generally accepted age-appropriate milestones in their own time with appropriate help and encouragement.

Occupational therapy may prove beneficial from as early as the teenage years and as a young adult. Here, learning how to live self-sufficiently, as well as develop essential skills, such as those needed to be able to get and maintain earning potential (a job), can dramatically improve a person’s quality of life further. During teenage years and early adulthood, in particular, sensitive emotions and issues can benefit greatly from counselling sessions while going through specific transitional phases of growing up. Emotional problems and assistance with social skills can be well managed and better understood through therapy.

When to seek medical intervention

• Infancy: Symptoms such as stomach pain or swelling of the abdomen and vomiting could indicate intestinal blockage. A bluish discolouration of the fingers and lips, problems with breathing and sudden changes in activity level or feeding could indicate problems with the heart and its function.
• Any age: Symptoms of neck pain or limited movement, bone injury or dislocations, difficulties with walking, weakness in the limbs or changes in bladder and bowel control need to be assessed by a medical doctor as soon as possible. Parents should also seek medical assistance if an individual with Down syndrome discontinues doing things that he or she used to enjoy doing, and exhibits other behavioural changes triggered by stress, or if significant changes in the home and family such as the loss of a loved one occur. Behavioural changes could indicate signs of possible mental health conditions such as anxiety of depression.

Which medical professionals are best to consult with?

• Paediatricians (paediatric cardiologist, paediatric gastroenterologist, developmental paediatrician, paediatric endocrinologist, paediatric neurologist etc.) during the formative years
• Primary health care providers such as family physicians (general practitioners / GPs and physician assistants)
• Ear, nose and throat specialist (ENT)
• An Ophthalmologist (eye specialist)
• Audiologist
• Internists
• Nurse practitioners
• Speech-language pathologists
• Physical therapists
• Occupational therapists
• Special education teachers

Other specialists, such as for the heart or brain or emotional well-being, may be required as and when necessary depending on the nature of a child’s condition. When in doubt, seek assistance from a family physician, who can refer an individual with Down syndrome to an appropriate specialist for treatment or assistance.

How to cope as a parent

It will be an emotional journey from the time any screening abnormalities are detected to giving birth to a child with Down syndrome, and right through their lifetime. Having a special needs child can feel overwhelming, with a wide range of happy, apprehensive and negative emotions, such as sadness or even anger in the mix. It may feel like there are a lot of dark corners, making it difficult to know what to do and what not to do.

For some, bonding with a baby, the potential financial burden or raising a child with special needs is overwhelming. Some choose to place their child in foster care or give a baby up for adoption. Others choose to raise their child as best they can. The decision that is best is one that is best for both the child and parent/s.

Raising a child with Down syndrome requires a constant focus on their general health. This can take an emotional toll on a family, but the more parents learn about their child’s condition, the fewer dark corners there will be and the easier a sense of normal and healthy living can be achieved. With sufficient treatment and adequate support, both a child with Down syndrome and their family can lead healthy, happy lives.

The effort a parent puts in to better understand their child’s condition, the greater the chances of their success:

• Learn about what Down syndrome is and why it happens: For the most part, producing a child with Down syndrome is not anyone’s fault. Genetic material merely develops in a way that is beyond anyone’s control. A parent should never feel that something they did or didn’t do caused this genetic condition or blame the other parent for this. It is easy to feel helpless when a condition, such as Down syndrome, cannot be rectified or changed. Gaining a better understanding of the disorder, knowing what typical things can be expected and how to best help an individual through likely challenges throughout their lifetime can go a long way in making things easier and happier. It is normal to worry about what to expect to have to learn to cope with at every stage – coping with a new-born (with or without physical defects), changes as an infant grows and how to prevent illnesses and infections, changes and challenges through childhood and adolescence, and beyond into adulthood. It’s a lot to wrap the mind around and feel confident that you can prepare for. The more parents learn and walk through the stages along with their child and their care team, the smoother the process will be and the easier it’ll be to find ways to cope.
• Seek out and plan for financial support: If a child has many defects or health problems, this can take a toll financially. Many birth defects can be corrected through surgery which can become costly. Where parents can, seek out medical health insurance which will help to cover some of the necessary health costs. It may be necessary for considerably more medical check-ups for a child with Down syndrome than others. It is best to prepare for certain medical eventualities through savings or medical health insurance as far as possible. The amount of medical attention or therapy a child will need depends greatly on their individual medical condition and the level of disability. At some stage (and where possible), it may be a good idea to look at estate planning as well, ensuring a child has sufficient resources available should anything happen to the adult they depend on.
• Look into appropriate schooling: Many children can attend public or private schools (mainstream with integrated classrooms), while others may fare better in a special needs schooling environment. Schooling is essential for developing a child’s intellectual ability and also provides valuable socialisation and life skills. For an adult to be self-sufficient, learning in a school environment as a child can be life-changing as they grow. Making the best choice can be difficult. Counsellors and therapists can help to guide parents on available options in the area they reside so that the best facility can be selected.
• Take measures to cope as a parent: It can become all-consuming to invest every ounce of energy into caring for a special needs baby or child. Parents are human too and will go through a lot themselves. Where help is needed, seek out support. Highs and lows will be normal, but can leave anyone feeling exhausted. Talking to other parents and families dealing with raising a child with Down syndrome, or joining a support group can help. If it helps, family counselling is also a beneficial option where councillors can work with families as whole, and not with affected individuals separately. As the primary caregiver, parents can only really best care for and enjoy their special needs child, if they themselves have the energy to do so.