World Down Syndrome Day.

by Wyn Evans

accounts for 95% of all cases. The other two types are called translocation (2%) and mosaicism (3%). Regardless of which type a person has, everyone with DS has an extra or partial copy of chromosome 21. (The nucleus of a typical cell contains 23 pairs of chromosomes, or 46 total chromosomes. Each of these chromosomes determines something about us, from our hair colour to our sex.)

Most readers of the Cardiff Times will be receiving delivery of these pages on or about the third week of March. Since World Down Syndrome Day (WDSD) falls on 21st March and my sixteen year old daughter, The Girl, has Down syndrome, now is a good time to tell you a little more about this condition.

John Langdon Down was a Cornish doctor best known for classifying in 1862 the genetic condition which now bears his name[1]. Stylistically, ‘Down’s syndrome’ is used more commonly than ‘Down syndrome’ but both are acceptable. Note that with the use of person-first terminology we would say that someone ‘has DS’ rather than ‘suffers from or is a victim of DS’. Also that DS is a genetic condition rather than a disease, illness or handicap. But best avoid the solecism ‘a Down’s baby/child/person’ at all times.

In December 2011, the United Nations General Assembly decided, with effect from 2012, to observe WDSD on 21 March each year, in order to raise public awareness of DS. The reason for WDSD being the on 21st day of the 3rd month, was to signify the uniqueness of the triplication (trisomy) of the 21st chromosome which causes DS. This is why it is also called Trisomy 21. While the condition may be thought of as a singular syndrome, there are actually three different types. Trisomy 21 is the most common. It

The baby develops an extra copy of the 21st chromosome during pregnancy, resulting in distinctive signs and symptoms in addition to developmental and intellectual difficulties. The way the condition presents itself in each person will differ. Some people will have mild to moderate intellectual and developmental problems, while others might have more severe complications. The same goes for health, where some people with DS may be healthy, while others could have a variety of complications, such as heart defects, thyroid problems, hearing loss, cataracts, or delays with speech and language development. DS causes many distinct characteristics, like: a small stature; upwardly slanting eyes; a flattened bridge of the nose; and a short neck. However, each person will have different degrees of the characteristics, and some of the features may not appear at all. People are often surprised when I tell them that people with DS look more like members of their own families than they do with each other, but it’s true!

It is estimated that about 41,700 people with DS live in the UK where approximately 700 babies are born with DS annually. The proportion of women having a termination after a prenatal diagnosis of DS has decreased from 92% in 1989-2010 to 90% in 2011-2013 in the UK. The median life expectancy for people with DS is 58 years. Adults with DS have an increased chance of developing Alzheimer’s dementia after age 40. People with DS have the same feelings and moods as everyone else. Many children with DS attend mainstream school, like The Girl, and many adults can live independently and hold down jobs. People with DS are NOT ‘always happy’ and teenagers with DS can throw a strop just as effectively as their typically developing peers!

Maternal age is the only certain risk factor for DS. Eighty percent of children with either trisomy 21 or mosaic DS are born to mothers who are younger than 35 years old. Younger women have babies more frequently, so the number of babies with DS is higher in that group. However, mothers who are older than 35 are more likely to have a baby affected by the condition. According to the US National Down Syndrome Society, a 35-year-old woman has approximately a 1:350 chance of conceiving a child with DS, which increases gradually to 1:100 by age 40 and approximately 1:30 by age 45.

DS is a genetic condition, but it isn’t hereditary. Neither trisomy 21 nor mosaicism is inherited from a parent. These cases of DS are the result of a random cell division event during the baby’s development. But one-third of translocation cases are hereditary, accounting for about 1% of all cases of DS. That means the genetic material that can lead to DS is passed from parent to child. Both parents can be carriers of the translocation DS genes without showing any signs or symptoms of DS. Women who have had one child with DS have an increased chance of having another child with the condition. If a woman has one child with the condition, her chance of having a second child with the syndrome is about 1:100 up until age 40. The chance of having a second child with the translocation type of DS is about 10% to 15% if the mother carries the genes. If the father is the carrier, however, the chance is about 3%.

Babies of every race can have DS; DS does not occur in one race more than another. However, In the United States, black or African American infants with DS have a lower chance of surviving beyond their first year of life compared with white infants with the condition, according to the Centers for Disease Control in Atlanta. The reasons why are not clear.

People with DS can work but often have jobs that underutilize their skills. According to one national survey in 2015, only 57% of adults with DS were employed, and only 3 percent were full-time paid employees.

The number of infants born with DS who die before their first birthday is falling, and the average age of survival continues to increase. At the turn of the 20th century, children with DS rarely lived past 9 years old. Now, thanks to advancements in treatment, the majority of people with the condition will live to age 60. Some may live even longer.

Early intervention is vital. While DS can’t be cured, treatment and teaching life skills can go a long way to improve the child’s — and eventually the adult’s — quality of life. Treatment programs often include physical, speech, and occupational therapies, life skills classes, and educational opportunities. Many schools and foundations offer highly specialised classes and programs for children and adults with DS.

Half of older adults with DS will develop memory loss. People with DS are living to be much older, but as they age, it’s not uncommon for them to develop thinking and memory problems. According to the DS Association (US), by their 50s, approximately half of those with DS will be showing evidence of memory loss and other problems - such as loss of skillsassociated with having Alzheimer’s disease.

The future is bright!

While DS remains the most common chromosomal disorder that children are born with in the UK today, the future is getting brighter for them. Take The Girl; she had open-heart surgery aged 15 weeks, without which she’d not have seen her 9th birthday. She has hypothyroidism which would have stunted her intellectual and other development were it not for pharmaceutical interventions that were not available a few decades ago. Medical research is opening new treatment possibilities. Educators and therapists have established what helps kids with DS learn most effectively; this helps their education and learning, their life-skills and intellectual capacity. And most important of all, people with DS are increasingly in the public eye. We see them acting in ‘Line of Duty’ and ‘Casualty’; they serve us in shops and cafes; we see them competing for medals in the special Olympics. No longer are they invisible as if society is ashamed of them. The Girl has friends with DS who have addressed the United Nations, given TED talks, achieved degrees, passed their driving tests.

These developments have added life to the years and years to the lives of people with DS. Keep up to date with The Girl by visiting my Facebook page(2) https:// www.facebook.com/BeatingDownsBarriers

1. https://en.wikipedia.org/wiki/John_Langdon_Down (18 November 1828 – 7 October 1896)

2. https://www.facebook.com/BeatingDownsBarriers