At five years old, Olivia Lugani has already faced more challenges than most of her peers. Measuring just 67cm and weighing 9.6kg, Olivia is one of only eighteen children in the world diagnosed with an extremely rare genetic form of dwarfism called Goldblatt Syndrome (also known as Odontochondrodysplasia). As a result, due to her neck instability and severe spinal curvature, Olivia experiences pain every day and is unlikely ever to walk independently.
And yet, it’s fair to say that Olivia’s petite stature and complex medical needs are not the most interesting things about her. She refuses to let her condition define her. Strikingly pretty, with brown curly hair, expressive hazel eyes, and an easy smile, Olivia is engaging, friendly and a girl who charms all who meet her. With her parents to guide her, she is determined to make her mark. Passionate about science, music, computing, drama and reading, she relishes any opportunity to learn.
In the early weeks and months of Olivia’s life, there were few indications that anything was amiss. Her mother, Stephanie, recalls a straightforward pregnancy, followed by a trouble-free delivery of a baby girl who weighed an unremarkable 2.73kg. It was only as Olivia approached six months that it became apparent she wasn’t reaching her milestones. Their pediatrician’s words - “no two children are the same and siblings develop at different rates” – were of little comfort. Olivia was small for her age, not feeding well, losing weight, and was floppy. And, impossible to ignore, she was unable to lift her head or crawl. It was, Stephanie decided, time to investigate.
Thus marked the start of a two-year journey for Olivia and her parents, a time that was fraught with anxiety, uncertainty, fear and sadness. Initial investigations were, frustratingly, inconclusive. Blood tests suggested a serious, life-threatening illness, a diagnosis that was subsequently discounted. This, the prospect of losing their daughter, was the lowest point of their journey.
At 18 months old, following thorough testing by specialists in Lausanne, Switzerland, London, United Kingdom, and visits to specialists in Atlanta, Georgia, USA and Paris, France, finally, a diagnosis of Goldblatt Syndrome was confirmed through Olivia’s X-ray images. The result of a spontaneous genetic mutation, the main symptoms of Goldblatt Syndrome are short stature, joint laxity, spinal curvature, small bone structure, muscle weakness, narrow chest cavity and dental weakness.
Unsurprisingly, it was a condition of which no one in the family had heard. Few consultants had much knowledge of it either. But, ironically, it was at this point that the pause button stopped and life started again. To have a name for Olivia’s condition, no matter how unfamiliar it was, meant the family could move forward, focus on the future and, most importantly, begin to create a meaningful life for their daughter.
Goldblatt Syndrome means that Olivia’s medical needs are significant and complex: a typical week will see her undergo physiotherapy, occupational therapy, hydrotherapy and play therapy. X-rays and MRI scans are needed to monitor her neck instability and spinal curvature. Olivia also requires frequent, often uncomfortable, dentist visits.
Olivia’s quality of life was dramatically enhanced earlier this year with the purchase of a bespoke electric wheelchair specially made by Permobil to meet her unique set of needs. Until this point, Olivia had been using a toddler stroller, which did little to increase her confidence. It was a significant outlay for the family, but one that has made a real difference to Olivia, giving her ‘her feet’ and helping her achieve a level of independence, which was particularly important as she approached primary school.
There have been many moments when Olivia’s parents have struggled with the reality of having a child with a condition that poses so many unanswerable questions. How tall is Olivia expected to grow? Will her spinal curvature continue to worsen? How will Olivia’s tiny body and weak respiratory system cope with a major neck surgery? What does the future hold? The reality is that there is no textbook definition for this condition, so no one knows.
Earlier this year, Stephanie had an epiphany of sorts. After years of living in fear of the unknown, she decided it was time to ‘come out the other side’, share her experiences with the world and create awareness of Olivia’s rare condition, and, in doing so, help other families struggling to find answers. With the support of close friends, she created a website, www.olivialugani.com that has already developed a loyal following.
In order to live life outside the dark shadows of reality, the family has made a conscious decision to live life to the full and cherish every single day. Having a child with a ‘life-limiting’ condition has had a profound impact on the entire family. But, while Goldblatt Syndrome may limit Olivia physically, her family and wide circle of friends and supporters will do whatever it takes to prevent it from holding her back emotionally or psychologically. Quite simply, it’s about focusing on what Olivia can do, rather than what she can’t.
And there is a lot that Olivia can do. A proficient reader, she relishes a visit to the library with her sisters, with Julia Donaldson books being particular favorites. She adores her American Girl doll, who also uses a wheelchair, brought from New York by her grandmother. Science is fast becoming a passion too, as she enjoys learning about gravity and the solar system. The family surrounds itself with music to encourage a fun and pleasant home environment. A current favorite pastime for Olivia is to shake her hips to Bruno Mars and sing karaoke to Katy Perry.
What’s next for Olivia? Several home adaptations, including a lift and suitable bathroom, a manual wheelchair, sensory and soft play equipment, all of which will improve her quality of life and encourage her independence into the future. And at school, information technology equipment will give her the opportunity to contribute and learn, just as her classmates do.
It takes a village to raise a child. With help from our village, our community and beyond, Olivia will thrive. #girlinabillion
Contributions can be made at www.olivialugani.com
With special thanks to Stephanie for her contributions to this article