What it means to be a parent of a child with Down syndrome

Future of Raising a Child with Down Syndrome

Among genetic disorders, Down syndrome is the most common.

In the human body, cells typically have 22 pairs of chromosomes. Down syndrome, known as trisomy 21, occurs when there are three copies of the 21st chromosome. It is a chromosomal abnormality that cannot be prevented or treated, often leading to miscarriage or stillbirth, with only about 20% of affected pregnancies resulting in live births.

Even if born safely, individuals with Down syndrome may exhibit various symptoms such as congenital heart disease, intellectual disabilities, and muscle weakness, though the severity varies widely. With appropriate treatments and support tailored to their circumstances—whether attending mainstream or special education classes—life can be manageable.

People with Down syndrome now have longer lifespans, often reaching 50 to 60 years, and many are successful in various fields. However, for parents facing the reality of raising a child with Down syndrome, there are numerous challenges to overcome. When contemplating what choices to make if their child has Down syndrome, what decisions should they consider?

Purposes of Undergoing NIPT?

Genetic disorders like Down syndrome can now be detected during pregnancy.

• Those who are 35 years old or older at the time of delivery,
• Those who have significant concerns about genetic disorders such as Down syndrome,
• Those who have a history of genetic disorders in other children,
• are eligible for screening.

While the number of people undergoing NIPT is increasing every year, its purpose may not be just to detect diseases or abnormalities, but what comes after. If there are suspicions of genetic disorders such as Down syndrome or if a disease is found, the true purpose is to reduce the burden on the baby, plan the optimal childbirth method, and create an environment for raising the child. Sometimes, NIPT is referred to as "selecting life," but that is not its original purpose.

Down syndrome is a condition caused by abnormalities in the 21st chromosome, known as "trisomy 21." Compared to 13 trisomy and 18 trisomy, which can also be detected by NIPT, Down syndrome has a higher birth rate and survival rate. Trisomy 21 (Down syndrome) occurs in approximately 1 in 1000 births, with the incidence increasing with advanced maternal age.

Reference: EUROPEAN JOURNAL OF PEDIATRICS

If NIPT results indicate an abnormality, meaning a high positive predictive value, it's known that about 90% of those cases choose the path of termination. The positive predictive value refers to the probability that a positive result from NIPT corresponds to an actual disease after confirmatory diagnosis.

For those diagnosed with Down syndrome through NIPT results, it's common for many to question whether undergoing the test was the right decision. However, as mentioned earlier, the purpose of NIPT is to "prepare" in case a disease is found. While many may opt for termination, it's also important to recognize that others accept this reality, prepare for childbirth in the best possible way, and seek the optimal support available.

Addressing Concerns of Becoming Parents of a Child with Down Syndrome

Down syndrome is a condition that varies greatly among individuals and can present various complications. Despite increased life expectancy, it's impossible to predict what the future holds.

Questions such as: What will happen to my child if we're no longer around? How much will medical and educational expenses cost through outpatient visits and developmental support? What will their growth be like, and will they attend school properly and find employment?

These are just some of the concerns that intertwine. However, addressing each of these concerns one by one and finding solutions is what counseling aims to achieve when considering NIPT.

When considering the possibility of Down syndrome in your child, understanding the specific anxieties that may arise is crucial. Counseling is intended to equip parents with accurate knowledge about Down syndrome, enabling them to face the challenges of parenting with clarity and confidence.

To alleviate anxieties related to childbirth and parenting, let's explore common concerns that are often raised.

Concerns about Costs

Complications are more likely to occur, and attention is required from birth through growth and into adulthood. There's a strong perception that it can be challenging to cover the costs of outpatient visits and treatments. However, when raising a child with Down syndrome, various governmental supports are available.

• Special Child Rearing Allowance
• Disability Welfare Allowance for Children
• Pediatric Chronic Disease Medical Subsidy System

In addition to these subsidies, there are supports like "Rehabilitation Notebook" and "Disabled Person's Handbook" designed for utilizing various systems for individuals with disabilities or illnesses. Many municipalities also offer their own subsidies. It's advisable to thoroughly research and prepare for applications during pregnancy.

Concerns about Growth

Down syndrome is characterized by a very slow growth rate and delayed motor skills such as crawling and walking. This is due to gradual muscle development, where typically, head control may occur around 4 months of age, and walking may start around 1 year of age, albeit later than usual. However, children with Down syndrome continue to grow at their own pace.

Depending on the severity, it's possible for them to attend daycare from a very young age, and early intervention can lead to significant developmental progress, enhancing their quality of life. It's understood that promoting muscle development and actively engaging in communication can help speed up their growth process.

Concerns about Health Management

Down syndrome can involve serious complications, some of which can manifest soon after birth, while others may develop in adulthood. These complications include:

• Thyroid dysfunction
• Hyperlipidemia (high cholesterol)
• Hearing loss
• Obesity
• Alzheimer's disease, among others

While it's not possible to completely prevent these complications, early detection and appropriate treatment upon noticing changes can help prevent worsening. Therefore, it's crucial to collaborate closely with healthcare providers to address these symptoms in accordance with the individual needs of someone with Down syndrome.

Understanding the specific concerns related to the suspicion or diagnosis of Down syndrome during pregnancy and childcare is essential. By identifying and addressing these concerns one by one, and creating a supportive environment through cooperation with others, parents can gradually prepare to accept and nurture their child with Down syndrome as they grow.

Enhancing Understanding with Trusted Doctors and Partners

Should we raise this child as a child with Down syndrome, or should we raise this child based on their individuality? It may sound easy to say, but in reality, many people with Down syndrome grow up, go to school, make friends, find jobs, achieve independence, and some even get married. Instead of just being pessimistic based on preconceived notions about Down syndrome, it is necessary first to understand what Down syndrome really is.

When considering NIPT, it is hoped that appropriate counseling will reduce anxiety and alleviate concerns. While non-invasive prenatal testing can be performed without risk to the mother, it is essential to understand both the advantages and disadvantages of the test. To receive comprehensive support and reach a decision together as a couple, it is advisable to undergo testing and counseling at a facility certified by the Japan Society of Obstetrics and Gynecology.

Raising, giving up, and everything after birth—all these decisions should be made through discussions between spouses and with the support of trustworthy medical professionals through counseling, strengthening the parents' resolve.