Trusting your motherly instinct and dealing with a diagnosis
I’m sharing my story for a few reasons to raise awareness for genetic conditions that aren’t that common, but also to tell other Mums to always go with their gut instincts.
When Molly my second child was born, I noticed her eyes (the sclera, the white part) were a grey colour. As a Mum they’re always so close to you through feeding and cuddles so it was pretty obvious to me. At first I thought that’s pretty normal, she’s only a few days and I’m pretty sure that’s what all babies look like. Once she’s a few weeks older pretty sure that will go away. I mentioned it to my own Mum and she agreed, but said I don’t think it’s anything to worry about. “Next time you’re at the Maternal Health Nurse mention it”.
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So for the next few months I parked this in the background of my mind, because let’s be honest there were no physical signs of anything being “wrong”, so that must be the case right?
At our next visit to the maternal nurse I mentioned it, she agreed they were a blue grey colour but also confirmed she wasn’t showing any signs of “wrong” so said, “perhaps if you’re still concerned next time you’re at your Dr mention it too”. So I did, at 4months of age to the day I went to see our Paediatrician, I told her my concern, she took one look and said "you’re right, something is wrong."
I was shocked to say the least.
She told me she was fairly certain she has a muscular skeletal disease caused by a mutation of a gene (as not genetic in our families). It’s also known as Osteogensis Imperfecta – Type 1 (Brittle bone disease).
I didn’t understand any of this language, none of it. I cried. A lot. Shock. Disbelief. Fear all kicked in.
SO my instinct was right, something was wrong. A series of tests and appointments later we had a confirmed diagnoses, and prognosis. At age 6 months Molly broke her Tibia, at 12 months she broke her Femur (largest bone in your body) at this point it hit home that this was real, and it wasn’t going anywhere.
Lucky for her she is Mild and she has an IV drug twice a year to help strengthen her bones. I’m beyond pleased to say October this year marks a 3 anniversary of her last fracture.
That is an incredible milestone for her and us as a family.
I won’t lie I sometimes feel like parenting Molly is like riding a rollercoaster every single day, but I wouldn’t have it any other way. She has more spark than a firecracker, more energy than a rugby player and enough determination for all of us put together.
They say with adversity comes strength, together we are pretty bloody strong. Sometimes I still struggle with it years later and that’s ok because one thing I know for certain she may be brittle but we are certainly not broken!
I love to shop, I love making people laugh and feel good about themselves, I’m determined, ambitious and optimistic. I’m obsessed over fashion and shoes in particular. By day I’m an Events Manager by night a Stylist! When I’m not working I’m planning our next adventure, I love to travel. Nothing feeds the soul more than visiting a new destination. It’s simply the best!
Motherhood in 5 words: Hectic, Challenging, Rewarding, Unpredictable and Blissful.
Fav family friendly place: A regular local place with a great outdoor area is Mr Grocer café. The kids can run wild!
Coffee order: Skinny cap 1 sugar twice a day – without fail.
Biz: The Suburban Stylist
I’m a Personal Stylist and it's my mission to make women feel good by investing in themselves, in order to be the best version of yourself you need to present well. I love working with women and going on this personal journey with them. My motto is style starts in your wardrobe.
The information in this story is a unique and personal reflection of the writer's experience. If you have any specific questions about any medical matter you should consult your doctor or other professional healthcare provider. If you think you may be suffering from any medical condition you should seek immediate medical attention. You should never delay seeking medical advice, disregard medical advice, or discontinue medical treatment because of information on this website.