x Abu Dhabi, UAESaturday 22 July 2017

Marco's condition is so rare it has no name

He has undergone surgery several times, has a history of bronchitis and pneumonia, suffers from sleep apnoea and has developmental delays.

Marco Helayel, 6, has a disease called Deletion (2) a rare chromosome disorder. Pictured with his sister Gabriella, 9.
Marco Helayel, 6, has a disease called Deletion (2) a rare chromosome disorder. Pictured with his sister Gabriella, 9.

DUBAI // When Marco Helayel was 11 months old, a doctor at Al Wasl Hospital advised his mother to get a chromosome overview for the boy.

"I had felt something was wrong; Marco was not my first baby and I knew there were delays in his development, but I guess I didn't want to believe it," Vanessa Helayel, who works as a personal assistant, said.

Mrs Helayel, of Australian and Greek origin, is married to Chucri Helayel, from Lebanon. They are not related, and their nine-year-old daughter, Gabriela, is perfectly healthy.

Marco, however, who is now five, has a deletion in his second chromosome. It is a condition so rare that it does not even have a name.

"It is a genetic mutation that neither parent possesses or transmits; it is just by chance," Mrs Helayel said. It is described as Deletion(2)(q37.1); a very minute deletion, or mutation, in a chromosome.

"Some might call it a freak accident, but I call it a blessing," she said.

Marco's personality is an inspiration to everyone who meets him, his mother said.

"He is a beautiful little boy, he gets along fantastically with his sister, who is quite mature for her age. He has blessed our lives in a way unimaginable, and when he smiles or laughs, all the difficulties we face fade away."

The difficulties have been great. Marco has undergone surgery several times, has a history of bronchitis and pneumonia, suffers from sleep apnoea and has developmental delays.

He is still unable to chew and can only swallow his food, and although he can hum a very merry tune and make all his needs known, he does not speak. His mother insists she will never give up hope and will continue to help him achieve his potential.

"He didn't roll over until he was nine months old, and sat up when he was 14 months. He didn't crawl until he was almost three years old. We weren't sure he would ever walk, but at four years and three months, after extensive physiotherapy at Al Wasl Rehabilitation Centre, he took his first steps. I have never been so proud," Mrs Helayel said.

She and her husband have learnt to deal with the situation, she said, and have tried to make the boy's life as good as they can manage.

"We have a wonderful support network of friends and family, and Marco goes to a great school - the Rashid Paediatric Special Needs Centre - but it is still very tough," Mrs Helayel said.

The need to meet other parents whose children also have genetic disorders prompted her to set up a Facebook group, named 2q37 deletion - Rare Chromosome Disorder, to find a network of people who can support one another.

"As soon as Marco was diagnosed, I educated myself and did my own research on the internet. I found out there are fewer than 60 children in the world who are registered with this disorder," she said.

Her Facebook group has 64 members, but there is no one else in the UAE with the same chromosomal deletion as Marco.

"It is not a blood disorder, so it cannot be detected in newborn screening, and it is not something my husband and I could have known or prevented.

"It is just something that happened to us, and despite it we have a wonderful, beautiful, blessed life."

 

hkhalaf@thenational.ae