FAIR FOR RARE: Breanna's STORY
In I'm a mum of 4, and my youngest son ‘B’ was born with a genetic deletion. Way back before he was conceived, a tiny bit of the long arm on the seventh chromosome fell off, including the elastin (ELN) gene. Then during conception this teeny arm on the tiny chromosome in the DNA multiplied itself until I gave birth to our little treasure ‘B’.
When he first came into this world, he was healthy, scores were high and the delivery was safe. One of the first things I noticed was ‘B’ was smaller then my other children when he was born. His skin was so wrinkly I could imagine accidentally pegging him on the line. Note to self, keep baby out of washing basket.
He was anxious and curious and his eyes had a shape difference, but I couldn't pick it. His gaze was so soul piercing I kept falling into them. I was filled with a fearful love from the time of his birth, something that I couldn’t explain. When we announced his birth to our family and friends I didn’t include the 'mum and bub doing fine' from the statement, as I was not yet convinced everything was okay.
With a host of indicators (most of which aren't listed on the Williams Syndrome identifier paediatric sheet), our paediatrician followed his instinct and listened to our concerns, by 20 weeks we had a diagnosis of Williams Syndrome. Getting the diagnosis is one thing; but getting actual relevant information is another.
'B' is amazing. He embodies so much of what we all take for granted. He is kind, loving, genuinely filled by engagement, eye contact and the beautiful sounds and sights we have in this world. Williams Syndrome differs greatly, but is broadly characterised by gregarious personality, socially over-friendly, empathic and sensitive, both emotionally and sensorially. On one hand, music can lift, soothe and regulate, but on the other, a blade of grass can cause so much discomfort he could sob hysterically. His heart is also affected, as with his connective tissue, joints, ligaments, skin, muscle, valves, arteries and organs. Watching ‘B’ grow has allowed me to notice things that could otherwise be missed, a malformation of the brain, patterns in learning, intolerances, how he doesn't swallow which means if he isn’t sleeping at the right angled at night, he doesn't breathe properly. Our savings drained, my career a thread of an existence, but our family is so, so grateful for ‘B’.
Knowledge is No. 1! We were lucky to stumble upon the information we have so far, but finding a doctor that informs us rather than vice versa has been rare. We have relied on an online chat group with information sharing to establish an in depth understanding and to identify patterns in various symptoms, behaviours and causes, to connect many puzzle pieces of information from across the globe. It has been invaluable, but medical and therapeutic education needs to be more sophisticated than chat groups desperate parents have to seek out.
There are so many mystery genes within the deleted segment, which can be slightly different for each person leading to significant differences in outcome. We have watched too many children in the Williams Syndrome community fall victim to a system of not knowing. Witnessing healthy kids decline with symptoms that cannot be identified and treated without knowledge, as parents helplessly search for medical information that could save their child. What if this information was as readily available as it is for other well known visible syndromes? So number one is knowledge.
No. 2 is access to quality services. We were so fortunate to have had an early diagnosis/funding. We were so fortunate to access ‘Better Start’ funding. We are also fortunate (hopefully) to be transitioning to NDIS. ‘B’ deserves an equitable opportunity to access his potential and establish strong foundations in his early years. His siblings have the potential to learn resilience or to learn neglect; the difference is support we can gain access to.
The difference early intervention makes is undeniable, yet there is still a huge gap that exists for him and our family for quality of life, and opportunities that we have all been affected by. Bilateral integration, emotional regulation, upward connectivity through art therapy, music therapy, OT, equine, hydro, psych services, and home services the list goes on. If someone gave me a hundred acres and funding I'd build a therapeutic farm stay for families to access. Imagine the economic investment in having so many people have access early intervention, how that would provide stability for families.