More than Rare
Mabel was born September 2018. She entered our world in dramatic style - over the toilet at home - And has continued to prove how extraordinary she is.
The summer of 2022 when Mabel was aged three, we went through a wild journey discovering she had Type One Diabetes. In the months leading up to diagnosis, we were struggling with Mabel and it seemed more than “terrible twos”.
Everything came to a head when we were in beautiful Wanaka on holiday. Nothing had been enjoyable or relaxing.
Dr googling in the early hours of the morning I came to the conclusion Mabel needed to be tested.
The following day, a wonderful Doctor in Wanaka confirmed the case. That was the end of our holiday, and the start of a very frightening journey.
In true dramatic fashion, we were helicoptered to Dunedin hospital. A 5hr drive from home.
We spent the next couple of days getting her blood sugar under control, and learning a whole new medical language. Mabel was poked, prodded till every finger was covered in bandages. She was extremely brave and resilient. Our ‘normal’ Mabel was coming back.
Once we had some knowledge we were able to make the drive closer home and onto Christchurch Hospital. Where we became under the care of the amazing paediatric diabetes team.
Fast forward a few years the technology has helped us learn and support Mabel’s diabetes. We’ve experimented with different insulin pumps and glucose monitoring sensors. Now using a system that is funded and most importantly works best for Mabel.
Mabel started school with incredible support. We couldn’t wish for better care while she’s there, which gives us peace of mind and lightens some of the mental load.
We’ve hit many bumps in the road. Mabel’s strong personality has us on tender hooks at times.
School refusal, extreme fatigue, anxiety, overwhelming feelings, not to mention restrictive eating (ARFID).
It was earlier this year her amazing big sister picked up on some ‘unusual’ colour choices Mabel was making with art and craft. Out of curiosity we scheduled a routine eye examination. Sure enough colour distortion was detected. Along with blurred vision. After further investigation it was noted she had Optic nerve damage in both eyes. This discovery meant Mabel needed to visit an ophthalmologist.
It was his wealth of knowledge and expertise that helped get us to where we are today.
To confirm his and our Endocrinologist suspicions Mabel underwent extensive blood screening. With genetic blood tests sent overseas. Over six weeks waiting for results, their suspicions were confirmed.
Mabel was officially diagnosed with Wolfram Syndrome. Also know as DIDMOD. A rare genetic disorder which presents as numerous conditions. Childhood onset Diabetes Mellitus, diabetes insipidus, Optic atrophy and deafness.
Global prevalence of WS is estimated to be between 1 in 160,000 and 1 in 770,000.
So here we are. Our ‘more than rare’ Mabel. Together as a family we are navigating a whole new world.
With no cure - our way of coping is to control what we can. Treat symptoms as we go. Read the research, join the global database, keep up to date with treatments and clinical trials.
For now our aim is to continue life as ‘normal’. Adapt if and when we need to. Explore anything that can slow down progression.
Most importantly say yes to adventures and exciting experiences.
