As a mum who is active in the special needs community, I often see posts on the various support forums from mums or dads who have just received a diagnosis for their child. Sometimes the mums and dads are relieved. Sometimes they are shocked. Sometimes they are in despair. Almost always there are conflicting emotions. And that is normal! When we first receive a diagnosis for our child, it can stop us in our tracks. Sometimes we have no idea where to turn.
So today, for all those parents, I am posting an article that I wrote many moons ago – when Sophie was just two years old and recently diagnosed. The article was published in Practical Parenting Magazine, but for some reason it never made its way onto my blog. I wrote this article for somewhat selfish purposes – because it was something I would have wanted to read when we first received Sophie’s diagnosis. I hope it may provide some comfort and assistance to any parents who are coming to terms with receiving a diagnosis for their child….
So here it is….
Finding Out Your Child has Special Needs
In many ways, our 24-month-old daughter is a typical toddler. She loves to play with her dolls, watch Playschool, and jump on her mini trampoline. She can name many different objects and knows her colours. She loves to show-off to her Nana and Grandpa. She is not 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. She has low muscle tone, loose joints, unusual ears and deformed teeth. She has digestive problems and poor sleeping patterns. She 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 are still adjusting to this unexpected journey. But when I look back at the sorrow and fear I felt in the early stages, I can hardly believe how far we’ve come.
Getting a diagnosis
Some parents may discover their child has a disability through pre-natal testing. For others, the first hint of trouble may occur at birth. Perhaps your baby isn’t breathing properly. Or he has some physical features that suggest a problem – a cleft palate or clubfeet, for instance.
”Not all genetic or developmental difficulties are immediately obvious in-utero or at birth”, however, says Metabolic Physician, Clinical Geneticist and General Paediatrician Dr David Coman. You might start to suspect a problem because your baby has difficulties with feeding, or isn’t gaining weight. Or perhaps she is not meeting developmental milestones, or has started to regress. While difficulties such as these do not always mean that 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… Developmental delay can be global in that it affects all aspects of the child’s development (fine motor, gross motor, social, speech and language), 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 is 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, physiotherapist, occupational therapist, audiologist, paediatric dentist, ophthalmologist, 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.
If you suspect that all is not quite right, speak to your General Practitioner. Request a referral to a Developmental Paediatrician or Geneticist. Write a list of your specific concerns, including developmental and physical issues, and behavioural problems. “Health records, family history, details of the pregnancy, information about the child’s developmental milestones and when they were attained, and pictures of the child at varying ages are often helpful” says Dr Coman. For older children, “information from the school is always welcome ”. Update the information regularly. 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 child. “You should not feel afraid to voice your concerns”, says Dr Coman, “there are no silly questions.”
If you believe your doctor is not 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 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 Registered Psychologist Nikki Oughton. “Parents might also experience guilt (believing that somehow they are responsible for this), frustration, anxiety, and depression. It is 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 is common to cycle through feelings, and feelings that you thought were passed may come back again. There is 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, Ms Oughton offers the following suggestions:
- Stay open to the grieving process – don’t deny how you may be feeling.
- Share your thoughts and feelings in a safe, supportive environment (eg a trusted friend or a counsellor).
- Try to find some space where you are not looking after anybody but yourself.
- Explore creative ways to express how you feel –writing, painting, dancing.
- Join a support group with others in the same situation.
For us, Internet support forums have been incredibly helpful. While friends and family have been very supportive, the parents I have 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 has not changed who Sophie is – she is the same person, with the same likes, dislikes and quirks. The things I love about her have not changed just because we 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. Register for early intervention services and respite care – there can be long waiting lists for these services.
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 him reach his 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 review. We work with her each day to encourage her speech and physical development. Some days I feel overwhelmed, and anxious about the future. But nowadays I spend a lot more time just enjoying my little girl. In amongst the appointments we do all the “normal” things that other families do, like 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?
Post script – As I look back on this article now, I can remember the fear I felt when Sophie was first diagnosed. And the relief. And I can remember how busy we were trying to get everything “sorted out”. Sophie has grown, some challenges have been overcome, new challenges have emerged – but you know what? The overwhelm is less, the fear is less, and the enjoyment is far, far more present. So to all you new parents – you’ve got this! One breath at a time, one step at a time, one day at a time – you’ve got this!