Children with Down syndrome go on to live happy, healthy and successful lives. Yet, outdated notions of the condition still persist, says Sandra Borg, whose daughter was born with the condition.
One in 100, said the gynaecologist, those were my chances of my daughter being born with Down syndrome. All the antenatal tests had shown a healthy growing baby, so I put the thought out of my mind until, two weeks before her delivery was due, I kept having the same nagging thought.
When Katarina was born, I only had time for a quick look before she was taken away. I could see that she was beautiful, perfect – and that she had Down syndrome. When we waited for what seemed like ages and the paediatrician gave us the news officially, it just seemed like the beginning of a journey I had always somehow known I would take.
I could see that she was beautiful, perfect – and that she had Down syndrome
Those early days were not easy. Some of our dreams came crashing down. My daughter would never be top of her class – would she get married, would she lead a completely independent life, would she have to face discrimination, what would become of her after my death? Thoughts and fears came ﬂooding in. I thought my heart would break.
But as the days and months passed, Katarina's character started to shine through. Never was there a bubblier baby. Wherever we went, she smiled and gurgled at people, eliciting smiles and cuddles.
One year later, she is the light of our family. Sure, there are challenges – but slowly she is overcoming them, as we cheer her on like maniacs at every milestone.
Down syndrome is caused by an extra copy of chromosome 21 (Trisomy 21), the result of a genetic mutation at the time of conception ,or soon after. It affects people of all ages and races irrespective of economic levels or culture. It is one of the most frequently occurring chromosomal anomalies found in humans, occurring approximately once in every 660 births.
According to the Down Syndrome Association Malta, in Malta it is recorded that approximately ﬁve to seven children with Down syndrome are born each year.
Despite its relative frequency, a lot of outdated notions still persist around the condition. “We would like for people to understand the condition better,”
says Lawrence Mangion, father of 14-month-old Amber.
“So that parents of children with this condition are prepared and understand what it means. And that people understand that children with this condition are just like all the other children.” Four-year-old Beppe, who was diagnosed with the condition at birth, lives a full and happy life, with a packed time-table, says his mother Vanessa Portanier.
“School, therapies and extra-curricular activities, like music and swimming. He also enjoys his ‘break time’ watching educational videos on ipad and also meeting people. He adores his grandparents, the rest of our family members and a few close friends who have been with us on this journey full of surprises.”
Three-year-old Francesca Rausi, too, goes to school and has integrated very well in class with other children, says her mother Michelle.
“She participates in all activities, swimming, reading, singing... she loves school and loves being with her schoolfriends and teachers. She has never cried because she didn’t want to go to school. She has learned so much - already she can understand both English and Maltese, she can easily identify colours, numbers, letters and she sings along with nursery rhymes.”
Most parents, particularly in Malta, go through our same journey, with a diagnosis being given at birth. Like us, most are initially broken by the news, then recover quickly to channel their energy into their children’s development and well-being.
“At ﬁrst it was a big shock for us – but from that day we started the challenge and looked for information and dealt with our newborn beauty,” says Reuben Spiteri, father of four-year-old Mariah.
“We started with all that had to be done, such as therapy, talks and all we could do to reach new goals... Now Mariah is doing very well and improving day by day. It is a big challenge for us. But I will do all that I can for her... Mariah is always happy and very outgoing so she makes you love her more each day.”
Mariah’s mother, Charmaine, encourages new parents of DS children to “never regret the gift of love God gives them, as they bring so much happiness and satisfaction in our lives. The only difference is that with Mariah I have to work more – but she always reaches her goals.”
When little Jordi was born, the paediatrician ﬁrst gave the news to his father. His mother Luana Debono had previously suffered a miscarriage, so her husband was reluctant to give her the news. “When the paediatrician told me, I just squeezed him tight and said: ‘He is still my son!’” says Luana. “Together we gave the news to the family members waiting outside. I never wanted to hide Jordi’s condition, he is still my ﬂesh and blood and I love him more than I love myself.”
For others, the news was even harder. When little Amber was born, the initial diagnosis was closely followed by yet another piece of news: Amber had heart problems – common in DS babies – and would require surgery when she was three months old.
When Nicole was born, some of our friends did not send their ‘congratulations’ because they had mixed feelings about the news
Her parents, Lawrence and Charmaine, were devastated. But little Amber showed courage and resilience and is now a beautiful smiling baby who has brought her parents such happiness that they cannot describe it. “For us having a child with Down Syndrome is nothing except a little more patience and a little more understanding,” says her father Lawrence.
“When Nicole was born, some of our friends did not send their ‘congratulations’ because they had mixed feelings about the news,” says her mother Melissa Cassar.
“Today, we wouldn’t change a thing. Nicole is a perfect child for us, as is her brother who does not have DS. We learnt not to see DS in Nicole. She is a daughter with her own abilities. We provide her with every possible opportunity, work with her to maximise her potential, and give her the best we can. Nicole gives us a lot of satisfaction, in everything that she does; from when she started creeping, to walking, imitating (which was quite a big challenge), and now to saying words, the numbers and singing the alphabet!”
Of course, dark moments happen. Days when all the questions come ﬂooding in, parents feel tired and discouraged, society shows a lack of understanding or kindness. “When people ask me: would you change anything in all this? I am always hesitant. I never say: nothing - which is what most parents who have a child with disability automatically answer,” says Vanessa. “Who would ask for a child with a disability, I always ask myself?
“However, given the situation, I would primarily change the way I reacted when I got to know that Beppe has DS. I didn't enjoy his ﬁrst few months of life. I was so overwhelmed that I hardly realised that God had given me a gift... somewhat different from what I expected, but still a gift. Now, after four years, instead of wasting time on a lot of worries, I channel my energy into ways and means of helping him.”
Another way of weathering through the dark days is to ﬁnd support, usually very forthcoming in the community for people with a disability. “Although we have our concerns about the near and later future, we try to concentrate on a day-by-day routine, and focus on the next milestone to reach. Meeting up with family and friends who have relatives with DS also helps us to interact and support each other more,” says Melissa.
Of course it helps to know that you are not alone. When Katarina was born, I thought that a piece of my heart was broken forever. And if I compare her to typical children – or think about the distant future – sometimes it still feels that way. But who is to deﬁne the meaning of a useful, successful life? And aren’t we all on a troubled sea? Does anyone know what the future will bring? A year later, I no longer see her as my baby with Down Syndrome – and I know I am not alone in this – she is simply Katarina, the child I always wanted.
This feature first appeared in September's edition of Pink magazine