By Zoe

Nina

Having Isabella at 19 and raising her as a single mum was always going to be hard but to have a child with Kabuki, which was undiagnosed until she was five, was definitely a challenge. Within days of Isabella been born I knew something was not right,  she was a ‘failure to thrive’ baby that refused to feed properly. Born at 7Lb 14oz by three months old was weighing just 7Lb,  she was placed on a nasal gastric tube, and within a couple of weeks and  many  midnight dashes later to the hospital to replace the tubes she pulled out, I was trained to replace them, and test the correct position on my own.

 

She began to put on weight and by 5 ½ months was given a gastrostomy and fundoplaction to stop her throwing up constantly.  The Gastrostomy became part of our lives till Bella was around 4 years old and it was deemed safe enough for her to take thickened liquid  (and gradually regular food) orally.

By the time she was 2 ½ she had open heart surgery to repair a large ASD,  she was lucky to survive the surgery but once she made it out of intensive care she made a quick recovery.All up, Bella’s diagnoses have included:

  • Failure to thrive (growth retardation)
  • Intellectual impairment
  • Low muscle tone
  • Joint hyper extensibility (mainly knees)
  • Sleep apnea (both obstructive and central)
  • Pierre Robin syndrome and Velo-cardio-facial syndrome
  • Submucous cleft palate (which has not been corrected)
  • Pulmonary stenosis and pulmonary hypertension
  • Periventricular white matter changes in the frontal lobes
  • Mild hearing loss as a toddler, going through three sets of aids later, but now hears within normal limits
  • Open-heart surgery to repair a 20-mm ASD at 2 ½ years
  • Decreased vision (refractive) (has worn glasses since 10 months old)
  • Persistent fetal finger pads
  • Short stature
  • Sparse body hair, especially on face, arms and legs
  • Tooth abnormalities
  • Harp shape upper lip
  • Broad bridge of nose
  • Bella has also been diagnosed with obsessive compulsive disorder (OCD), attention deficit disorder (ADD), oppositional defiant disorder (ODD), pervasive developmental disorder (PDD-NOS) and petit-mal seizures.

We have endured around 50 general anesthetics with Isabella, knocking her out for everything from open-heart surgery to countless sets of ear grommets, gastrostomy tube changes and many dental surgeries, which have mainly been for selective deletion of teeth to help with overcrowding and countless repairs and root canal to other teeth.

Last year we had many discussions and tests run with medical professionals about placing Bella on growth hormones. Her bone age at 14 was measured as age 12. Since then, and as she moves into ‘normal’ teenage sleep patterns, she has grown 6cm and put on 4kg in eight months (now measuring just over 150cm or 4’11”). Even compared with her younger siblings, she is tiny but we hold out hope that she will reach over five feet tall.

We have been very lucky to have a great team of physios, occupational, speech and play therapists, swallowing coordinators, ear, nose & throat specialists, opthamologists, orthopaedists, paediatricians, signing teachers and a number of special education playgroups, respite centres and preschool teachers... a team that has been instrumental in getting us where we are today. They guided us on almost every aspect of Bella’s development, including steering me towards the Hanen program, which taught me how to teach my child to talk, and how to transition her away from the sign language she ended up using instead of talking! We were also blessed by an engineer and a group of volunteers who designed and built her a special set of ‘training wheels’ for her push bike, which enabled Bella to feel like a real kid.

With all of this help, Bella sat up at 5½ months, crawled at 16½ months, weighed 14kg at 14 months, walked six weeks before her third birthday (with the aid of a walking frame) and walked confidently at the age of 5½ years with the help of stirrups. She started school with her walking frame and stirrups and was barely toilet trained, but by the end of primary school was running the cross-country.

I am constantly amazed at what my daughter Bella achieves every day. The road to where we are now has certainly been paved with bumps along the way, whether it’s the grief I felt when the reality set in that I didn’t have the healthy baby I’d dreamed of, all the times I resuscitated her when she stopped breathing, or the little irritating things like the repeated questions, ripped clothing, hitting her brothers or sister, chewing on pens and panicking in a shop if I am out of sight. These are tough to deal with but it’s also not very hard to see how lucky we are to have such a genuinely healthy, happy & lovable child in our lives. Bella, who has not long turned 15, now rollerblades, ice skates, swims confidently, runs and competes in the special education carnivals in our area, and rides a pushbike and a motorbike unaided. Her biggest gratification now is gained by scaring me half to death with her ability to ride her quad bike flat out in the bush! She also cooks, does household jobs, catches buses, and goes shopping. Bella also shows amazing empathy for people, getting very concerned with other people’s feelings, and is a very nurturing young lady who loves to be with babies and young children.

The whole family was blessed to attend the latest Kabuki Retreat in January 2011 in San Remo. Here we met other children with Kabuki Syndrome and finally met in person with these families, some of whom I only knew through emails and phone calls. It was so amazing to watch Isabella look at some of the KS kids and really connect with them… like finding long lost relatives! My other children (aged 4, 6 & 11) also got to know other siblings who experience the same hardships and joys they themselves do. It was a blast watching all of them pitch in if any of the KS kids needed support with the closest kid just automatically helping. The support and understanding, the shared experience, the education and hope these retreats provide is a valuable asset for any family living with KS.

Donate

Donate to SAKKS

Thank You

Thank You

Entertainment Books

Buy your Entertainment book

Newsflash

A Dream come true for Jack

Click here to find out what happened...

Josh is a Superhero

Kabuki syndrome sufferer Josh Concilia shows the world he’s as tough as they come. Read the story here.

Sophie learns to ride

Horse rider Linda Gaffaney overcomes serious injury to teach at riding school for the disabled. Read the story here.

Ollie's Family & Friends to race

Three-year-old Ollie McKinnon has Kabuki syndrome and his family and friends will race in Herald Sun’s Run for the Kids. Read the story here.

Find us on Facebook

Search SAKKS

Login to SAKKS