Our Medical Story

My name is Nicole and my husband, Bernard, and I have three daughters. Lana Joy is 5, Madeline Hope (Maddy) is 3, and Briella Faith is 2 months old. We are an Australian family living in Hong Kong. All three of our children were born here.

Until my pregnancy with Maddy, I had never met anyone with dwarfism and knew very little about it. I was only 14 weeks pregnant when we knew there were complications. Three weeks later, we were told it was “skeletal dysplasia”. At that stage, our odds were not good. Many forms of skeletal dysplasia found that early in pregnancy are lethal, and the baby is either stillborn or does not live very long after birth. It was suggested that we terminate the pregnancy – however we chose to carry to term regardless and hope for a non-lethal form.

After birth, Maddy was diagnosed with diastrophic dysplasia, a non-lethal form of dwarfism. She was the first case of this diagnosed in Hong Kong. She had some breathing difficulties at birth, but quickly grew stronger and stronger. Our doctors were very cautious with her, not knowing how stable her condition was, and because of this she spent her first 4 months (very uneventfully) in NICU. Since birth, she has been remarkably healthy – I’m sure she has the strongest immune system in our family!

Medically, Maddy’s main complications come from her spine – she has a significant scoliosis that will need surgery sooner or later. Her hips are not great but at this stage, there is little that can be done to improve them. Maddy is mobile and pain free, although we understand that with diastrophic dysplasia, her joints are likely to get worse over time, causing her pain and decreased mobility. When she is an adult, Maddy will need a hip replacement. Maddy has currently only needed one surgery to fix her cleft palate and insert grommets (ear tubes) to drain the fluid from the middle ear.

Maddy has multiple regular follow up appointments with all kinds of specialists. She also uses special orthotic inserts in her shoes to improve the position of her ankle when she walks. She has regular physiotherapy (for general strengthening and balance exercises), occupational therapy (to help her with fine motor skills such as writing and cutting, and also self-care skills), and speech therapy. She is blossoming into a very special little girl with a magnetic personality.

After Maddy was born, my husband and I found out that we were carriers of diastrophic dysplasia and as such, each of our children has a 25% chance of being born with the condition. At first, it was difficult to decide whether or not to have another child, but as Maddy grew, we realised that we were willing to take that chance. We could even see benefits in having another child with the condition – particularly for Maddy’s sake.

Briella was born in November 2013. Like Maddy, she has diastrophic dysplasia. Her medical issues, however, are not identical to her sister. Briella did have some breathing difficulties at birth, however she did not need as much assistance with breathing. She was the second case ever diagnosed in Hong Kong (after her sister), and the doctors were far less (over)cautious with her. She was home from NICU at 11 days old. Unlike Maddy, Briella has clubfoot which is quite typical for diastrophic dysplasia. We are currently in the middle of treatments for that – a new experience even though we are “experienced” parents.

Although two of our girls have very frequent doctors’ appointments and we spend more time at hospitals than we would like, our family is very “normal”. Like any other family, we deal with stubbornness, tantrums and sibling rivalry. We laugh, watch Sofia the First and play Lego. Four years ago, I was sure that a dwarfism diagnosis was changing our lives. Now when I look at our daily lives, it seems so insignificant.

8th February 2014