A Kiwi Indian parent wants to educate and create awareness of a genetic disease that has made their six-year-old son face severe difficulties in motor skills (running, hopping, jumping).
Six years old, Neil Arya Singh was diagnosed with Duchenne Muscular Dystrophy (DMD), a condition that hampers the growth of muscular tissues in the body, especially in the limbs hindering them to perform any physical activity like their peers.
Neil was three and half years old in 2014 when he was noticed being continuously inactive at his day-care and was taken to a GP who referred him to a Paediatric Neurologist in the Starship Hospital. After a few consultations and blood tests, the doctors determined that he was suffering from Duchenne Muscular Dystrophy (DMD).
Duchenne Muscular Dystrophy (DMD) is a severe type of muscular dystrophy. The symptom of muscle weakness usually begins around the age of four in boys and worsens quickly. Typically muscle loss occurs first in the upper legs and pelvis followed by those of the upper arms.
About two-thirds of DMD’s cases are inherited from a person's parents, while one-third of cases are due to a new mutation.
Ever since both working parents’ attention and focus has been centred around the young boy, who suffers severe difficulty in doing physical activities like running, hopping, walking long distance, and using stairs. Other complications include frequent falls, trouble getting up from floor, waddling gait, big calves and learning disabilities.
The couple along with other community members and Muscular Dystrophy New Zealand hosted Duchenne Awareness Day earlier in September at Blockhouse Bay Primary School trying to raise awareness about this genetic syndrome amongst other community members.
Neil with a clown at the Duchenne Awareness Day 2017 event
This rare condition affects about one in 5,000 males at birth. There are seven to eight families in Auckland who face the same issue with one of their children including a Kiwi Indian family in Titirangi, West Auckland whose young son is also a victim of the genetic disease.
Neil uses a wheelchair to cover long distances, and some special arrangements have also been made at his school. As Neil also gets tired by the end of the day and he takes a teacher aide for him in the latter half of the day to support him for his work.
The family is also looking for a better place to live that can reduce the day-to-day physical struggles and eases the lifestyle of their son.
There is no known cure available for DMD as of yet and medical research is still going on.
The treatment is generally aimed at controlling the onset of symptoms to maximise the quality of life which can be measured using questionnaires.
Current research includes exon-skipping, stem cell replacement therapy, analogue up-regulation, gene replacement, and supportive care to slow the progress of disease over a period of time.
Neil’s parents Kuldeep Singh and Yash Aggarwal, have a message for the community, “if you feel that your boy is in the age range of three and seven years and you feel that something is wrong please do not delay in getting an appointment to get him checked. Please do not think or assume that your boy is lazy or he does not want to do things as there may be some limitations in his body that does not allow him to do this.”