Isabella was born naturally, full-term on the 4th of February 2018 after an uneventful pregnancy. When we looked at the beautiful innocent little girl we had been blessed with, we made the promise to her that all parents make! To love and protect her and to do everything in our power, so she could have the most amazing life. As a baby we had no clue of what was to come, Isabella was happy, alert, would coo, blow raspberries and play like other babies.
As she grew she continued to develop, however, did fall a little behind with her milestones. As her parents, we did not want to hear anything negative about Isabella and naturally did not compare her to other children. This said, over time it became harder to ignore as at 12 months Isabella was walking but possessed no words. At 15 months Isabella had her first major seizure which was truly terrifying, and lasted just over two hours. She was still so tiny, the doctors could not get it to stop, she was given multiple medications and eventually she regained consciousness.
This was the beginning of what felt like an eternity of horrible tests which did not seem fair for a baby to have to go through. So many unanswered questions hanging over us whilst trying to enjoy and love our little girl. Upon completion of standard tests, an appointment was scheduled with a geneticist for additional testing, she counted her toes and looked in her big brown eyes then took some blood samples. Genetic test results were delivered in mid-January 2021 via a telephone call due to another lockdown. John and I received the words no parent ever imagine they would hear about their child, let alone at just 2 years old "I'm sorry I'm afraid it's not good news", Isabella has been diagnosed with BPAN (beta-propeller protein-associated neurodegeneration). Our world stopped and everything we had hoped for Isabella instantaneously changed. As the doctor explained BPAN, we both felt sick, angry and many other emotions too. We were told what our little girls' life would become before it had even begun. Prior to this, Isabella had been making tremendous progress as could run, climb, started using sign language, happy, cheeky, and deserved a future.
We were told that as she grows iron would build up on her brain and BPAN would cause her to lose everything she had worked incredibly hard to gain. She would lose the ability to walk, eat, communicate, her vision, develop dementia and Parkinson's symptoms, dystonia, and many other things. There is currently no treatment or cure for Bpan and that it would be palliative care when needed. Iron starts to build up on the brain while they are little, and children with Bpan can regress anywhere between 15 and 25 years of age. While her peers are getting their independence and heading out into the world Isabella will be losing hers.
Isabella loves going to her local Mencap nursery three days a week, and receives fantastic support from them. Both John and I can she her flourishing and how much fun she has there. She loves animals, music, food, especially chocolate! She runs, climbs and throws little toddler foot stomping tantrums when she doesn't get her way! She loves her books, YouTube, and all the other things a normal little girl of 3 years old loves.
The clock is ticking down for Isabella, and we are looking into research, treatments and cures for BPAN. Research is underway, but Bpan is a rare disease which is hard to diagnose without genetic testing. It affects roughly 1 in a million, though experts believe the number of undiagnosed children is far higher, and unfortunately, does not get the attention or funding that it deserves and fundamentally needs which must be addressed sooner rather than later.
After speaking to a specialist at Great Ormond St, we were advised to reach out to Kelly who runs the foundation ‘’Don't Forget Morgan’’, whose daughter also has BPAN. She is a true champion and inspiration, John and I were blown away in terms of their accomplishments to date. This charity has forged relationships with experts in the field which has given us both glimmer of hope that we could save Isabella from what is currently her future. They have now funded multiple research programs that are underway and 100% of the money donated goes to BPAN research. We do think there could be a cure for BPAN and we need to honour our promise to Isabella as her mum and dad, that we would do anything for her.
Please can you support, and partner with us to fundraise. Any donations will help to change the lives of children like Isabella with BPAN and positively impact upon research and finding a cure. We are not big online sharers and have written this mostly in tears but we feel sharing Isabellas diagnosis is the only way we can help and pray that it speeds up a cure.
Thank you for taking the time to read about our lovely little Isabella. Any help you could offer would mean more to us than you could ever imagine.
Please click to donate and help save Isabella and other children suffering from this devastating condition.
Nicole, John and Isabella.