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You Know your Child has a Rare Disease when the Specialists Have Never Seen Anyone with it

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You know your child has a rare disease when even the specialists don’t know a lot about it and have never seen anyone with it.

‘I noticed something wasn’t quite right’ 

Our three-year-old daughter Gisèle (Gigi) was born healthy and without any signs of an underlying condition. It wasn’t until she was six weeks old that I noticed something wasn’t quite right with one of her pupils⁠—it was much larger than the other one and an unusual shape.

I took Gigi to see an ophthalmologist, who diagnosed her with a coloboma (a rare key-hole-shaped pupil). He sent us on our way, but a couple of months later I noticed both her eyes were slightly shaking and one had started to turn inwards.

I took Gigi back to see the same ophthalmologist, and he said she had three distinct visual ‘pathologies’ and all that was required was surgery to correct her strabismus (eye-crossing).

She was not even six months old yet.

A second opionion

I suggested that given there were multiple things going on there may be something else at play. I was assured there was not and that I was an overreacting mother. Needless to say, I sought a second opinion.

What followed was a series of visits to paediatricians, neurologists, cardiologists, a Magnetic Resonance Imaging (MRI) test, multiple electroencephalograms (EEGs), blood tests, scans and eventually, genetic testing.

Twelve months later, after initially being misdiagnosed based on her genetic results, we finally received the correct diagnosis of Mosaic trisomy 20.

According to raredisease.gov, features of Mosaic Trisomy 20 that have been reported include spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia (decreased muscle tone), lifelong constipation, sloped shoulders, and significant learning disabilities despite normal intelligence. 

By this time, Gigi had experienced vision impairments, hypotonia (floppy upper body), and a global developmental delay.

rare disease
Source: Supplied

I think the gravity of it all really hit me when I asked the genetic specialist what the symptoms of her condition were, and what we could expect as she grew.

He told me Gigi would reveal this to us in time, and that there was simply no way of knowing.

No way of knowing…

The not knowing was (and still is) the hardest part.

Over time I’ve managed to find two other families who have a child with Mosaic trisomy 20—one in Perth and one in the United States of America. Being able to connect with these families has made such a big difference. It makes me feel like we’re not completely alone, and that there are other people who understand this rare disease.

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Gigi using her assistive walker. Source: Supplied

Gisele continues to see a specialist about her vision issues, and has regular physical therapy, occupational therapy, speech therapy and help with walking and other physical activities.

She uses a mix of words, Key Word Sign and an assistive, augmentative communication (AAC) device to communicate.

Gigi rare disease
Source: Supplied

Far from letting her condition hold her back, Gigi is incredibly happy, engaged and determined. She goes to childcare, has friends and loves playing with her big sister Lena and our Cavoodle, Boris.

I still worry a lot about what will happen to Gigi when she grows up and the time comes when her dad and I aren’t around for her anymore. I feel this is one of the biggest anxieties for parents of children with additional needs.

But I’m greatly comforted by the fact Gigi is already progressing so well, and I know in my heart that with the support of her big sister, extended family, therapy team, support workers and educators, she will live a meaningful and fulfilling life.

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Source: Rebecca Michael Photography

The more I watch her develop and see just how amazing she is, and how determined she is to succeed, the more confident I feel about Gigi’s future.

The not knowing is the hardest part. But in some ways, it’s also the best. Sure, we don’t know what her future holds but no one really does. With Gigi there’s no roadmap to follow, and no milestones to track. There is no typical path for our one-in-a-billion girl.

The great part is that means she gets to create it.

We’re incredibly proud of our beautiful girl, and we can’t wait to see what’s next.”

About the author

mum centralChrissy Dupé is the founder of the Gigi Bib, which is currently nominated for the Ausmumpreneur People’s Choice Awards. You can vote for Chrissy and the Gigi Bib in the ‘Product’ category here.

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Her journey with Gigi inspired her to create the unique, easy-to-attach and remove baby and toddler bib range, featuring a unique one-handed, ‘wake-proof’ clip. Her vision is to make life easier for families and to raise awareness of rare conditions, like Gigi’s.

They proudly donate ten cents from every sale to Rare Voices Australia, the national peak body advocating for the best outcomes for Australians living with a rare disease – www.rarevoices.org.au

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