Bernard and Nicole Luk were overjoyed when they learned they were pregnant with their second child. Lana, their eldest daughter, was two and had lived a reasonably healthy life. Signs something was wrong with their child were revealed at the 14-week ultrasound. Doctors said there was a chance their daughter could have Down syndrome.
At 17 weeks, Bernard and Nicole learned their baby had dysplasia (skeletal abnormalities).
“We were told that the potential outcomes could range from dwarfism and physical disabilities, to a more severe form where the ribs are so restricted that she would be stillborn or not be able to breathe at birth. We were told that there was virtually zero chance that our child was normal,” Nicole said.
Diastrophic dysplasia is an autosomal recessive condition meaning that both parents carry a mutated gene, and their children need to inherit both mutated genes in order to be affected. Because of this, each pregnancy has a 1 in 4 chance of the child being affected.
“Our biggest fear was always that Maddy would have a lethal condition and that we would lose her. Whilst it was extremely traumatic to go through a pregnancy knowing that was a potential outcome, I’m sure it helped us to be more accepting of her disability.
"We were so thankful that she was alive and that she could have a long and fulfilling life.”
Three years after Maddy was born, Nicole gave birth to her third daughter, Briella, who also has Diastrophic dysplasia.
Both girls had a cleft palate and both of them started having cystic changes in their ears shortly after birth leading to “cauliflower ear”. Briella also has clubfeet. Both girls have developed kyphoscoliosis of their spines. Their breathing is slightly affected due to the spine as well as their small ribs – however they both are extremely healthy girls.
“Of course, we have had our struggles coming to terms with disability and how that affects Maddy and Briella, as well as Lana, our eldest daughter, and us as parents – but by and large we have been thankful for their life, so that outweighs the negatives.”
Maddy and Briella both will require continual monitoring particularly through their childhood as their bones are growing to their adult size. Sometimes they will need surgical interventions to make sure everything is growing as straight as it should.
Nicole says while the girls are happy and healthy, there is still so much to do in terms of medical research.
“There can be hope and joy in life with a disability. My kids are happy and in many ways just normal kids. That said, I do believe more research needs to be done into ways to improve their quality of life, both physically as well as socially. Medical research has come so far, even just from a generation ago, but there is still so much more that can be done.”