Rally for Amazing Grace

Help Grace! who has a rare genetic movement disorder ADCY5- Familial Dyskinesia to attend a 5 yearly ADCY5 conference in America in 2020. Enabling us to  connect with leading specialists, and families to faciliate current research and hopefully one day leading to a cure. We are also needing to buy a wheelchair accesible vehicle for transporting Grace, who will require a wheelchair to get around. As well as  communication device to facilitate her speech and communication.

About Amazing Grace:

Our Amazing Grace  inspires us everyday as she lives with  ADCY5- Familial Dyskinesia. A rare genetic movement disorder with a  prevalence of less than 1 in a million so she is certainly a rare “gem”. Despite her struggles with significant speech and motor delays she always has the biggest smile on her face and loves and enjoys life.

Her disorder causes her to have episodes of abnormal movements that are triggered when she gets sick, tired, anxious, stressed or frustrated. It also causes muscle fatigue making walking difficult. She needs mobility aids to enable her to get around. She also has low muscle tone and is unable to stand up by herself or sit unaided.

 Grace was born on 11 December 2015 We first noticed something was not quite right when Grace caught a virus at around 4.5 months of age and from then seemed to get progressively floppy. By 6 months of age she was unable to sit up. Around 8 months our world was turned upside down when we our paediatrician informed us that Grace had Global Developmental Delay and that he had some real concerns.

Within the week we were sent to a Neurologist and what followed was lots of blood tests, 2 MRI’s of her brain and a spinal tap, which still didn’t lead us to knowing what was wrong with our daughter. For us as her parents living with such uncertainty and not knowing how to best help her was devastating we felt so helpless. It was and is an emotional rollercoaster for us all.

In March 2018 we were referred to the Westmead Childrens Hospital Neurology team and it was then we did genome sequencing on Grace as the doctors thought her disorder maybe genetic. This year, after waiting over a year, we received Grace’s Diagnosis of ADCY5 Related Dyskinesia. We were so relieved to finally have some answers and to find out our daughter had a normal life expectancy and intelligence, however a diagnosis has not lead us to a cure!!!!

Grace is an amazingly determined little girl who never gives up. She attends weekly Swimability lessons, Physiotherapy, Occupational Therapy, twice weekly Speech Therapy and Conductive Education. She also attends Intensive Therapy Sessions at NAPA (a World Renowned Therapy Centre) whenever possible. These Intensives are very costly, but we are determined to give Grace every opportunity to reach her full potential.

Grace is improving all the time, gaining strength, increasing her vocabulary and making significant gains in mobility. She has started on a caffeine trial, after a young boy in France was treated with caffeine which ceased his dyskinetic episodes. Caffeine has been very promising for Grace and has improved her fine motor skills and helped her have more control of her dyskinesia with improved endurance too.

We are constantly looking at ways we can lessen the struggle for Grace and want her to continue smiling and loving life. As Grace’s disorder is rare we need to keep up to date with any research and development in ADCY5 related dyskinesia and plan on attending the ADCY5 Affected Families Conference in Philidelphia in September 2020. This Conference is held in conjunction with the International Movement Disorders Conference, and will give Grace access to a panel of world renowned Specialists working in the area of ADCY5. Grace will be able to be assessed at these Conferences and will inform us of updates on research and developments being undertaken.

Please help in supporting  Grace’s journey and we know she will continue to AMAZE us.