The story of Bella
Karl and I think its incredibly important for us to share Bella’s Story to help raise awareness and much needed fundraising to continue research for treatments and a cure for Bella’s disease.
CoPAN DISEASE- http://nbiacure.org/learn/nbia-disorders/copan/
For those of you who don’t know Bella’s life so far, although filled with immense love and laughter, has come with some big challenges. She has had developmental delays since a baby, however, in October 2020 Bella had her first seizure. Due to the type of seizure she had and her known delays this led to ordering more tests (MRI, EEG, and genetic blood work.)
Unfortunately, on February 18, 2021 we received the test results and as such, Bella’s Diagnosis. Bella is one of 10 people in the entire world (as recorded on Dec 2021) who suffer from CoPAN disease. This is an NBIA disorder that is characterized by spacticity and weakness of the lower limbs early in the disease and iron accumulation and calcifications found in the brain. Unfortunately, this disease is so rare that not much is known at this stage. The specialist doctors are unable to tell us what her mobility or learning levels may be like in the future, unable to tell us if any other areas may be affected and the scariest part, unable to tell us what her life expectancy may be. Currently it is expected about mid life…
This disease is a cousin disease to Cerebral Palsy and Parkinson’s. The doctors are only able to tell us what areas of her life may be affected and that this disease is slowly progressive. This has turned our entire world upside down and inside out as we fight to understand what this means for our baby girl. However we refuse to allow this disease to define our daughter. She is no different and no less worthy than any other child on this planet and her quality of life is purely based on what the world offers her.
Currently Bella is engaged with occupational therapists, physio, speech therapists and support from the Queensland Children Hospital and Redlands Hospital. The disease has meant that we are juggling multiple appointments weekly and we have recently began use of assistant technology such as a walker, SMOs and DMO. She also uses a helmet to help protect her. Unfortunately in May 2021 we had our scariest episode yet with Bell where she had a seizure for 1hr19min. Fortunately she recovered with no side effects but it was the scariest moment of our lives.
How Can You Help?
CoPAN disease was only discovered in 2016 and as a result is very under researched and possibly under diagnosed. We desperately need your help to raise support funds, even $1 into researching this disease! It costs about $45,000+ to have a research fellow dedicated to CoPAN for a period of time.
For Bella, and all the other children who may be affected by CoPAN. If you are unable to donate then please take the time to learn about CoPAN and share this information as far and as wide as you can. To raise awareness of how this disease effects both children and families and to be able to remove the stigma of having a rare disease for a child would be a huge achievement. Please help Bella create a positive outcome from this diagnosis.