By Kym Mason
How did you first become aware that there might be a concern about your child’s health or development? What were the early signs that led you to seek a diagnosis?
We actually didn’t seek a diagnosis, it found us. Frankie did have a low nasal bridge at birth, and we initially though it was due to her forceps delivery. Weeks after birth it hadn’t changed, and at our 6-week review with the paediatrician, he said it was likely cosmetic as we had a CVS at 14 weeks gestation and that cleared us of a chromosomal or genetic disorder.
Frankie a nasal infection that just wouldn’t clear, so at 4 months we got referred to a ENT.
The ENT asked about her low nasal bridge and said we should see the craniofacial team at Sydney Children’s Hospital as he said the plastics team would be helpful with regards to options to repair the bridge.
Frankie was 6 months old when we got our appointment. And by this stage I had notice her fingers and feet were a little different to other babies in our mother’s group, but I thought she’s a chubby baby, and talked myself out of my concerns.
Craniofacial is like speed dating several specialist doctors over the course of a few hours. We saw the neurologist first, who was concerned that Frankie had a large head, so suspected hydrocephalus and she wanted us to come back and do some test in a few months. We were worried about this but, was reassured by the surgeon that it was manageable and treatable. We saw all the doctors, and last was genetics.
The Genetics specialist immediately noticed the low nasal bridge, commented on Frankie’s hands and feet, my heart started racing and I immediately felt ill……then he casually said, our baby likely had some kind of syndrome or disorder?
Everything he said from that point I don’t think I could hear, I just stared at Frankie, playing on the floor with toys blissfully unaware of what was to come. My world just caved in around me like I was being swallowed up by a rush of fear and anxiety.
Can you tell me a bit about the diagnosis your child received? What does it mean, and how does it affect your child’s life?
On our return to the hospital for our follow up weeks later we were told Frankie had Acrodysostosis.
A very rare genetic condition that is a form of skeletal dysplasia, possible dwarfism, hormone resistance and various developmental delays. She would be only one in 130 people diagnosed in the world with AcroD, and the only person that he knew of in Australia. We were given a photocopy of a fact sheet that was likely written 30 years ago and told try not to “Dr Google”.
It was heart breaking at the time, as we didn’t really know how this condition would really impact our child and her health and future. We had to also do blood test to officially confirm the Acrodysostosis diagnosis and confirm if it was type 1 or type 2. Frankie has Type 2.
All I knew is she might be delayed, so I wanted to ensure I did everything possible to make sure Frankie had the best start, so I looked into speech, OT and physio, as everything I read or heard is that early intervention was the key to the best possible start in life for her.
How has the diagnosis impacted your family dynamics and daily routines? Have there been any specific challenges or adjustments you’ve had to make to support your child?
The diagnosis changed everything in our lives, you grieve, you blame, you try to wrap your head around why, you feel guilty, hurt, angry and sad. And I still needed to be a mum, a first-time mum, who was already struggling with post-natal depression, and now I was having to accept my beautiful much loved and wanted baby, had a condition I couldn’t even spell.
It was a tough time that first few months, slowly understanding what AcroD was, how it was going to impact her and finding others out in the world who had been on the journey and could help or share their knowledge. We couldn’t accept that we had to navigate this path alone. We started a Facebook page and within a few months we had a created our own little community and support next work that would become our tribe.
We found through our AcroD community there was likely going to be additional diagnoses; global developmental delay, severe apraxia of speech, autism, ADHD, sensory processing disorder, OCD, generalised anxiety disorder and much more, so we had to watch out for the signs and signals of so much, and hoped to just stay ahead of the curve. We flagged the possibilities with therapists and doctors to ensure we were treating and supporting as much as we could and as early as possible.
Frankie was diagnosed with ASD level 2/3 when she was 5, confirmed GAD when she was 6 and recently diagnosed with ADHD. Coupled with OCD, SPD and she now also has a shunt to help regulated her hydrocephalus (fluid on the brain).
What kinds of treatments, therapies, or interventions has your child been receiving? How have these approaches helped your child’s development and well-being?
Frankie has been doing speech, OT, physio, music therapy & behavioural therapy over the last 7 years. In the last 3 years, we have focused on speech, OT and behaviour therapy and really focused on what she was learning at school and developing therapies and strategies to help her enjoy school, learning and feeling independent at home.
Frankie loves structure and routine, and to get the best outcomes for her she needs these two really key components to reduce stress and anxiety.
By creating clear instructions via visual schedules and social stories, Frankie feels like she knows what’s going on, what is expected of her and this in turn helps her feel organised and emotional regulated.
It’s been challenging and it still can be very challenging, however we are now better equipped with our own skills on how to support her and how to help her.
Frankie is a very complex little person with very diverse needs, so we required a very individualised approach when it comes to her therapy. She has started medication for her ADHD and we have seen some wonderful improvement in her speech and cognitive development. Frankie is reading, writing, very good at maths and really developing in being able to communicate her needs.
As a parent, what are your primary concerns and hopes for your child’s future in light of their diagnosis? How can those around you offer support during this time?
Like all parents, you hope your child is happy, healthy, pain free and has the opportunity for a good life. Setting Frankie up to be the best that she can be, hopefully independent enough to care for herself, have a small job doing something that she finds interesting and is passionate about in the future, making friends and being loved, respected and accepted.
There isn’t a cure for AcroD, no silver bullet solution to her condition and what it brings. And I guess the biggest concern is who is going to care for her when I’m gone.
My family all live in another state, and I feel that they don’t truly understand my situation. And I appreciate for them it’s hard to know how to support when you don’t live this life on a daily basis. And they see me as a very capable person, I never really ask for help.
But I do find the support I need, I tend to get it from my other special mums by creating a network of warrior mothers and surround myself with them. It’s important for me to help others, but also seek help from, them for myself.