“It is not the strongest of the species that survives, nor the most intelligent that survives.
It is the one that is the most adaptable to change”
On a hot and humid summer night, a beautiful little baby was snugged up in her Mum’s tummy, ready to enter the world. Twenty hours of contractions, agonising pushing and half a dozen icy pops later; a bouncing baby girl was born. Feelings of joy and happiness flooded Mum and Dad, their little Eddie was finally a big brother. Baby was placed on Mum’s chest for just a few seconds, there was no time for bonding as the midwife swiftly lifted baby girl away. Mum and Dad knew their baby wouldn’t be with them for very long and would need assessing. The anti-natal scans had shown there were some issues with baby’s heart. Trusting the professionals, they anxiously handed over their precious gift to the midwives. The staff looked anxious and with quiet whispers and nods, baby was rushed from the room and taken to Grace Nursery at Westmead Hospital.
The feelings of joy turned to gut wrenching panic, what seemed like hours later, a doctor came back holding a polaroid picture of their little baby girl. He calmly advised that she was very sick and needed further assessments and special care. The photograph was for Mum and Dad to have, so they could name their little bundle of joy. They named their little princess Claire. Claire was kept away from her Mum and Dad for 6 hours, but it felt like eternity. On the second day after Claire’s arrival, Mum finally got taken to Grace Nursery at Westmead Hospital. She finally held her baby girl properly for the first time. This tiny little bundle, with a mop of black hair and a scrunched up little face seemed so helpless.
At three weeks of age Claire was sent to Mona Vale Hospital where she stayed as an inpatient. Mum had a bed at the hospital and was away from home, little Eddie was missing his Mum. It had been over 6 weeks and Claire still wasn’t allowed home. Claire was screened, monitored and examined for hours and hours each day, she was finally diagnosed with a submucosal cleft palate and had many issues yet to be discovered.
It broke their hearts that Claire was so sick. On the 26th March 2004, things took a turn for the worst. Claire went into cardiac failure and was sent back to Grace Nursery at Westmead Hospital. Initially, the lead cardiologist in Australia, who was caring for Claire during her first few weeks in hospital was sure that Claire’s ill health wasn’t a result of her heart. However, when Claire was rushed back, a new cardiologist examined her as he was on holiday; by a stroke of luck this saved her life. It was apparent to him that Claire’s heart complications were life threatening and she needed to undergo cardiopulmonary bypass surgery to survive. The Cardio Thoracic Surgeon sat down Mum and Dad, and clearly advised them the intrusiveness of the surgery came with extremely high risks. Dad recalls being given a chart which showed a percentage rate of success based on the characteristics of the patient. After watching the Doctor tick so many items, Claire resulted in a 14% chance of survival.
Grief struck Mum and Dad to the very core, their baby girl whom they had grown to love and adore for the past 7 weeks had very little chance of living the life they had dreamed for her. With floods of emotion, they called in their family to come and have photos and cuddles with their little Claire. Dad was adamant that each photo must be with a smile. They were to be happy memories with their daughter, not sad. These may have been the last photographs they would have.
On the 14th April 2004 Claire was prepared for her surgery. The heartbreak they endured kissing their baby goodbye as she was taken into theatre will live with them forever. Their tiny and frail baby girl was so helpless, but they knew she was in the best hands. The specialists advised that it would take about 5 hours to attempt to fix Claire’s heart. Mum and Dad were given a buzzer at 7:30am and were instructed to sit in the gardens of the hospital. At 10:45am the buzzer signalled for them to return. Fear came over them, it was far too early for the operation to be completed. Without saying a word to each other and they both dreaded the possibility that Claire had not survived the surgery. The walk up the corridor was long, their hearts were beating fast, and their bodies were numb. A nurse walked towards them and their eyes froze on her, she casually said “Hi, I’ll be taking care of Claire for her recovery”. Their knees weakened with relief, they pulled at each other for support and with tears they cried “She’s ok”. Against all odds, Claire had survived her surgery.
From the very beginning Claire was a character of pure strength. Her personality shone through that very day. It turned out, Claire was born with the worst ventricle septal defect and atrial septal defect the cardiologists had ever seen in a newborn baby. The surgery may have been over, but her journey was only beginning. Years of appointments were to follow and it became obvious Claire had health issues aside from her heart. She was seen by countless specialists and geneticists; each of them would say she was a “mystery child”. Each year a new diagnoses came to light, it has been an emotional rollercoaster to say the least. Mum recalls thinking ‘What have I brought into this world’ it was extremely difficult to hear professionals tell her that her perfect little daughter had so many issues.
Claire was diagnosed with a high arched palate as a baby which posed issues with her feeding. Claire had to remain on pureed foods until the age of 4. At this age Claire was diagnosed with hearing loss, she began to wear aids in both ears and started to learn sign language to assist with communication. None of the medical professionals, or panels of paediatricians could ultimately diagnose Claire. The did all agree that her midline issues, such as her heart and horse shoe kidneys were pointing towards a syndrome of some sort. As Claire was growing it became apparent that she had short stature to her peers and an intellectual disability. There have been so many other issues with Claire’s health, various infections and surgeries have been ongoing. With so many attributes to different syndromes it was tricky to diagnose her to one main syndrome. Something was always blocking the final diagnosis, hence she was a “mystery”.
Claire’s features were consistently commented on, unusual hands and feet, her facial features and the smallness of her head. It was hard listening to your new baby being critiqued on a regular basis, and it became overwhelmingly upsetting at times. Mum couldn’t accept that she had to remain a mystery and began researching for months on end. As Claire grew into a little toddler, then a little girl, it was becoming hugely obvious to Mum that she had a syndrome named ‘Kabuki’. After painstakingly pushing her theory to the geneticists and Claire’s paediatricians, they would always rule out the diagnoses due to one or two missing symptoms, mainly epilepsy.
At age 4, Claire became a big sister to a new little brother, Charlie. Ever so bravely, Mum and Dad decided not to let their experience with Claire deter them from being a family of five, which is what they had always wanted. Fortunately, Charlie was healthy and happy, and it didn’t take long for Claire to take on the new role of being big sister to her baby brother. Claire’s relationship is very special with her two brothers, they have lots of patience with her disability, and find humour and laughter in the everyday challenges they face as a family. The boys have learned to be resilient and selfless when Claire needs care or attention from Mum or Dad.
Mum being in the medical field herself, found it increasingly frustrating not having a diagnosis for her child. Simple factors such as completing forms is always a battle. Most government official forms will ask for the ‘disability’ and technically Claire didn’t have one. Getting government support was hugely challenging throughout Claire’s young life, because of this very issue. Mum has spent hundreds of hours on calls, at appointments and assessments over the years and many times Mum just wanted to ‘give up’. Then surprisingly four years ago, when Claire was 9 years old, she was being reviewed again. This time she had a new panel of Paediatricians, one of which was from Denmark. He looked at Claire and said ”She’s got Kabuki Syndrome, it’s very clear”. For the first time in 9 years, Mum felt relief beyond expectation. Finally Claire had a diagnosis, the very diagnosis Mum had believed her to have since the age of 4. It was a long time coming, but now they could rationalise and learn about Claire’s Kabuki Syndrome properly. The missing link that made so many specialists refrain from diagnosing Claire with Kabuki was down to missing Epilepsy. At 12 years of age, Claire had her first seizure. Mum’s gut feeling was right all along.
Kabuki Kids are rare and certainly special kind of kids. Still there is little research into the genetic cause of this syndrome and funding is sparse. It is suggested that 1 in 32000 babies are born with the condition, and it is likely to be under diagnosed due to lack of research and awareness. Albeit, the parents across Australia have created a wonderful online community where they each share their stories, challenges and advice.
Having Kabuki hasn’t changed Claire’s character, she has her Mum’s kind heart and her Dad’s sense of humour. She adores dogs and has her very own companion black lab named Brew. She LOVES playing Mum to Brew and loves giving her treats, pats and lessons. Claire is also very popular, the whole of our community knows her, she loves a chat and a hug when she sees you. My first memories of Claire make me smile, she was about five years old and would shout out in her little Aussie accent “G’day Mate” to all the blokes who would be visiting or simply walking past the garden. I would always be greeted by “How are ya’ Darlin” with a big hug, followed swiftly by “Can I have your phone?”. It always amazed me how this little five-year-old girl with an intellectual disability would always remember my passcode, even if weeks or months had gone by from the last time she used it. Memory of an elephant!
Claire is now 14, she has so many friends, loves school and socialising. She gets excited when she sees dogs, she loves caring for her dolls and any visitors who may pop in. Claire is the biggest Katy Perry fan and will sing her heart out when played over the speaker at home. Claire has met The Veronicas, she has been on the TV and even danced on stage at the Sydney Spectacular Show at Olympic Park Stadium. She certainly is a little celebrity within her family, her community, her school and as far as I like to think the whole world. She has many fans across the pond in Wales (my family). This determined, talented, funny, clever young lady has never given up, she has had countless surgeries in her young life, and many more to come, however, just like her Mum, she doesn’t complain, she has THE BEST sense of humour.
The whole family is an inspiration and just like a superstar, Clare is one in a million!