An Emotional Journey

As appeared in Practical Parenting, May 16, 2012

Note: Kathy's article was written for an Australian audience.  While the advice is valuable globally, readers will obviously want to seek out resources appropriate to their own communities.

In many ways, our two-year-old daughter is a typical toddler. She loves to play with her dolls, watch Play School, and jump on her mini trampoline. She can name many different objects and knows her colours. She loves to show-off to her nan and pop. She isn’t too keen on having her teeth brushed. She has a great sense of humour and the cheekiest smile. She loves her ‘blankie’ and has recently developed an obsession with shoes. But Sophie also happens to have been born with a rare genetic disorder called Kabuki syndrome.

Kabuki syndrome affects many aspects of Sophie’s life. Her gross and fine motor skills are delayed. Her speech is affected. She has sensitivities to certain textures and noises as well as low muscle tone, loose joints, unusual ears and deformed teeth. She also has digestive problems and poor sleeping patterns and may have learning disabilities, mental health issues and other challenges as she gets older. It took us 20 stress-filled months to get a diagnosis and in some ways we’re still adjusting to this unexpected journey. But when I look back at the sorrow and fear I felt in the early days with Sophie, I can hardly believe just how far we’ve come.

Getting a diagnosis

ReedSome parents may discover their child has a disability through antenatal testing. For others, the first hint of trouble may occur at birth. Perhaps your baby isn’t breathing properly, or she has some physical features that suggest a problem – a cleft palatei or clubfeet, for instance.

“Not all genetic or developmental difficulties are obvious in-utero or at birth, though,” says geneticist and paediatrician Dr David Coman. You might start to suspect a problem because your baby has difficulties with feeding, isn’t gaining weight, isn’t meeting developmental milestones or perhaps has started to regress. While difficulties such as these don’t always mean your child will have ongoing problems, according to Dr Coman, “developmental delay is always a red flag that should prompt input from a medical professional. It can be ‘global’ in that it affects all aspects of the child’s development (fine motor, gross motor, social, speech and language skills), or it can be confined to specific developmental fields. Speech and language delay is especially important to have investigated.”

For us, I had a feeling that something was wrong from the start. I couldn’t really explain it – I just thought Sophie didn’t look or feel quite right. I distinctly remember my family passing her around the room and me looking on thinking, ‘There’s something wrong with my baby.’ Over time I noticed poor feeding, poor eye contact, terrible sleep, slow development, endless screaming and many minor physical abnormalities.

Convinced that something was wrong, I started searching for answers. Several medical professionals told us that Sophie was “just a slow starter”. Others suggested that I was an over-anxious first-time mother. It took several general practitioners, two paediatricians, a speech therapist, occupational therapist, physiotherapist, audiologist, ophthalmologist, paediatric dentist, two hospital admissions, countless hours of internet research and three geneticists to finally obtain the Kabuki diagnosis when Sophie was 20 months old. For us, persistence was key.

Finding help

If you suspect that all is not quite right, speak to your GP. Request a referral to a developmental paediatrician or geneticist. Write a list of your specific concerns, including developmental and physical issues, as well as behavioural problems. “Health records, family history, details of your pregnancy, information about your child’s developmental milestones and when they were attained, and pictures of your child at varying ages are often helpful,” says Dr Coman. For older children, information from the preschool or school “is always welcome”, he adds. Update the information on a regular basis and give a copy to every specialist that you see.

Sometimes it may be difficult to reach out – you might be afraid to have your suspicions confirmed. But denial and avoidance won’t help your child. Getting a diagnosis can provide access to information, services, treatment and support groups – all of which can help your little one. “You shouldn’t feel afraid to voice your concerns,” Dr Coman says, “and know there are no silly questions.”

If you believe your doctor isn’t taking your concerns seriously, consider finding another doctor. If you aren’t getting answers, don’t give up! Research on the internet, talk to other parents, keep looking for answers. With persistence you may just discover the key to a diagnosis.

Coping with a diagnosis

How you feel about your child’s diagnosis will depend on many factors. When and how you find out, the amount of support you have and your child’s prognosis can all play a part.

“Sadness, anger, denial, fear that you won’t be able to cope, perhaps even a desire to ‘reject’ your child are all normal emotions,” says psychologist Nikki Oughton. “You might also experience guilt – believing that you’re somehow responsible – as well as frustration, anxiety and depression. It’s important to understand that these emotions are all part of a normal grieving process – grief experienced when a parent is forced to let go of the child they imagined they would have. It’s common to cycle through feelings and feelings that you thought were passed may come back again. There’s no one right way to feel and you have the right to whatever feeling you may have at the time.”

For us, the diagnosis was a mixed blessing. It destroyed that final bit of hope that perhaps I was overreacting and everything would be okay, but there was definite relief. I could finally stop searching for answers. Most importantly, receiving a diagnosis restored my faith in my ‘mother’s instincts’.

While each person will cope differently, Nikki offers the following suggestions:

  • Stay open to the grieving process – don’t deny how you’re feeling.
  • Share your thoughts and feelings in a safe, supportive environment (for example, with a trusted friend or a counsellor).
  • Try to find some time and space where you’re not looking after anybody but yourself.
  • Explore creative ways to express how you feel. Writing, drawing, painting and dancing are all great creative outlets.
  • Join a support group with others who are in the same situation as you.

For us, online support forums have been incredibly helpful. While friends and family have been very supportive, the parents I’ve met through these forums understand our journey in a way that no-one else can. I’ve also found it invaluable to remember that a diagnosis hasn’t changed who Sophie is. She’s the same person, with the same likes, dislikes and cute quirks. The things I love about her haven’t changed just because we now have a diagnosis.

Continuing to help your child

Once you have a diagnosis, register with your state government provider of disability services, contact Centrelink to determine whether you qualify for financial assistance and register for early intervention services and respite care, for which there can be long waiting lists.

Remember that children with the same diagnosis can have vastly different abilities – don’t underestimate your child! Educate yourself about your child’s condition and the steps you can take to help her reach her full potential.

Sophie receives speech therapy, physiotherapy, occupational therapy and nutritional intervention. We have regular appointments to monitor her vision and hearing, and regular paediatric and genetic reviews. We work with her each day to encourage her speech and physical development. Some days I still feel anxious and overwhelmed about the future, but I also spend a lot more time just enjoying my little girl. In amongst the appointments we do all the ‘normal’ things that other families do, such as taking trips to the park and the zoo. We cherish all the small things. Sophie is thriving and full of life and joy. Sure, she may not be quite like other kids – but then what is ‘normal’ anyway?