What is it like having a child with a rare disease?

Around 2 million Australians live with a rare disease, and at Sydney Children's Hospitals Network we treat hundreds of children with rare diseases every year. 

Today is International Rare Disease Day, a day to raise awareness and educate each other on what having a rare disease looks like.

Rosie's story

Written by Georgia White, Rosie's mum

Rosie is four and she LOVES stories. She loves books, reading, audiobooks and Julia Donaldson is by far her favourite author. I'm not sure if there is anything better than watching her Dad recite her favourite story. Just like other kids her age, her favourite stories involve unicorns, dragons, greedy rats, princesses and wizards.

At about 10 months of age we noticed that Rosie wasn’t meeting normal developmental milestones. After many months of doctor appointments, specialists, physio and OT sessions she was diagnosed with Global Developmental Delay and Provisional Autism. When Rosie turned 2, it became clear to us that an autism diagnosis just did not make sense. She was a happy and social child and her eye contact was one of her super powers. We continued our search for answers and met with a genetic counsellor for tests. The tests for  Rett Syndrome came back positive and our whole world imploded.

Imagine the symptoms of Autism, Cerebral Palsy, Parkinson’s, Epilepsy and Anxiety Disorder, all in one little girl – this is Rett Syndrome, a serious lifelong neurological disorder caused by random mutations in a gene called MECP2.

Rett Syndrome affects around one in 10,000 people (almost exclusively girls) worldwide. In Australia, around 200 people are living with Rett Syndrome. Rett is cruel. Many children with Rett are unable to speak, walk or use their hands. Breathing, feeding, seizures, anxiety, gastrointestinal and orthopedic issues are also common. Unfortunately we have seen almost all of this in our darling Rosie.

Rose requires 100 per cent supervision and support for all activities. This has placed extreme emotional and financial stress on our family. However, we have been very fortunate to receive the love and support of our friends and family. To know that we are not alone makes each day a little easier. Rett Syndrome has taught our family a lot about life and love. We LOVE to celebrate milestones. Often, the little things are BIG things in our house - cakes and candles to celebrate 3 independent steps or just to brighten a dark day.

“Courage is not the towering oak that sees storms come and go; it is the fragile blossom that opens in the snow.” ― Alice Mackenzie Swaim

“Apraxia” is the global inability of Rosie’s body to do what she wants it to do. This is arguably the most devastating aspect of Rett Syndrome. It can interfere with every body movement, including eye gaze. Apraxia impacts movement, not cognition. It is so important to us that people know that Rosie is just like any other 4 year old. She understands you, she understands everything. It is paramount to presume competence.

Our exciting and recent news is that Rosie now uses an eye gaze device to communicate. Think Stephen Hawking but with a sweet little girl's voice. For the first time, the world is able to hear what Rosie has to say. She has been using her eye gaze device for 6 months now and it is beyond brilliant. She uses it at home and at preschool and she is now able to truly participate.

What can you do when communicating with a child with Rett? Relax and wait. Give her time to respond. Rosie is able to communicate a very clear yes and no with her eyes. For Rosie - “Yes” is a direct eye gaze in to your eyes and “no” is a turn of the head and she will look away from you. The Rett community is filled with incredible hope. A cure once seemed like an impossible dream. Now it may not only become a reality, but may reverse the symptoms of all people living with Rett Syndrome. Lots of research is underway in to approaches for treatments and gene therapy. The first human clinical trials are scheduled to commence this year. This motivates and inspires us to continue Rosie’s therapies. She needs to stay strong and healthy as a cure could be just around the corner.

Rosie’s strength and courage in everyday life is an inspiration to us. Never underestimate a girl with Rett.

Austin's story

Written by Austin's mum Tracey

For 13 years my son Austin suffered from a rare disorder and we didn’t have a diagnosis.

We didn’t know what each day would bring. And we didn’t know if this rare disease ran in the family and would impact family members ready to have children. It was like being lost.

Still we did what we could, taking one step at a time.

Until early July 2017 when we received one of the most exciting calls from our genetics team at Sydney Children’s Hospital, Randwick saying the results of our son’s latest tests were in.

Finally, they had an answer for our son’s developmental delay. We had been through countless tests over a period of 13 years, always searching for answers. 

When we met with the team I was nervous of what the future may now hold for our son Austin. At the same time my husband and I were mostly excited to hear what the team had to share with us. On so many other occasions the answer was always, “We still don’t know and maybe in a few more years we may have an answer”.  

The latest test, exome sequencing, is a technique used to sequence all of the protein-coding genes in a genome. It revealed that Austin had a mutation on chromosome 21 that was linked to a condition, known as DYRK1A Syndrome. Austin was one of only two children in Australia identified with DYRK1A Syndrome, and one of fewer than 150 people worldwide.

The diagnosis for us was immediately empowering. We started to learn more about DYRK1A Syndrome and were also able to connect quickly with the global community via Facebook. For the first time we could connect with other families living with this rare disease, and just seeing the facial similarities in these kids was amazing.  

It’s like a piece of the puzzle slipped into place.

The question now was with a diagnosis would anything change? What should we expect? Was there a treatment? Upon diagnosis we listened and read about the common features of DYRK1A Syndrome, including intellectual disability, Autism Spectrum Disorder, microcephaly (small head), anxiety, febrile convulsions, epilepsy, prominent ears, deeply set eyes, speech delay and feeding difficulties. It was like having a ticked box for many things Austin had experienced but we had never had an answer as to why.

While currently there is no specific treatment, with a diagnosis comes better understanding. A group of identified patients helps the medical and scientific community understand the disease better.

With diagnosis also comes less isolation. Via the DYRK1A family & friends Facebook page we quickly became a part of a global community that helped us feel part of a group and part of a solution.

Having better access to timely diagnosis, will come earlier access to treatments, helping families like mine live a more fulfilled life.

We hope by sharing our story others may be encouraged to keep searching for a diagnosis, as we now understand how empowering this can be. We take comfort in the fact that the scientific community will continue its quest to search for greater understanding and potentially treatments for rare diseases, like Austin’s. 

Ultimately what I want for my child is what others want for their children; for Austin to be loved and supported, to be capable of loving, to be a contributing member of society and to be happy.