October 4th, 2017

People often say to me that Emma ‘doesn’t look like she has Down syndrome’. There are over 120 ‘soft markers’ for Down syndrome - soft markers are things that may appear in someone with the extra chromosome, but may also appear in someone without it. People with Down syndrome often have many of these soft markers, and that is usually what prompts the blood test to determine if the extra chromosome exists.

When Emma was born, the only soft markers she had were a low birth weight, small low set ears, and a bent pinky finger. Looking back on her 12 week scan her nuchal fold was slightly higher than normal (still within normal range), her nasal bones were underdeveloped and her femurs were slightly short. These are just a few of the things that may or may not be present. We were offered further testing after this 12 week screening but our ‘chance’ was so low we really didn’t give it another thought.

All of these soft markers are no indication of the level of intellectual disability the person will have. Just like hair colour, or eye colour, the way a person looks has very little bearing on their intelligence. The life expectancy and quality of life for people with Down syndrome has increased dramatically since people realised that the less you limit someone, the more they will achieve.

We expect that Emma will live independently, go to school and work, have adult relationships, have hopes and dreams, and most importantly be treated with the same respect that anyone else would be given.