Almost a year ago, on January 29, 2024, a day that will remain indelibly etched in our memory, our only and beloved Alexandra, now 5 and a half years old, was diagnosed with a very rare disease called BPAN, so rare that it affects only 2-3 out of every 1,000,000 people. In fact, she is the only child diagnosed with this disease in Greece.

Alexandra was born a perfectly healthy little girl, with no indication that she was suffering from a severe neurodegenerative disease. She had a normal development as an infant, except for the expected (or so we thought) sleep problems for her age. After about 9 months, we began to notice that in many developmental areas, she was lagging behind compared to children her age... but we thought that was just her pace. During the quarantine, this developmental delay became more apparent... while she walked normally, she was extremely behind in speech, fine and gross motor skills, and her overall perception and understanding of things. Even then, we thought it was probably due to being a "quarantine child" and that once she started daycare, things would improve...

The first Easter after the quarantine, we went to my parents' house in Elassona, and there my mother, being a kindergarten teacher with many years of experience, realized that something was wrong with Alexandra... something we had obviously noticed too but did not want to accept.

After multiple visits to developmental specialists, pediatric neurologists, and child psychiatrists, and countless hours of therapy starting from the age of 2.5 years, genetic testing provided the answer to many of our questions about Alexandra's slow development: a mutation in the WDR45 gene, which occurred during pregnancy and was not present in either of the parents.

It is an extremely serious neurodegenerative disease for which, at the moment, there is no cure. In childhood, it typically manifests as a global developmental delay and is often accompanied by seizures and autism-like symptoms among othe clinical features. However, at some point in adolescence or early adulthood, it causes dementia and Parkinson's disease and is classified as a "life-limiting" disease, meaning it shortens the expected lifespan of an individual.

Our lives have changed forever since then. What parent can accept such a fate for their child? Who can bear to know a future that seems bleak? When does this "why" ever go away?

Every day is a constant fight for survival, trying to stop your mind from going down the wrong path.

But Alexandra is a source of endless joy and love for life. She offers countless hugs and bright smiles to those around her, loves to run, ride a bike, and happily attends preschool. She loves music and hums entire songs with incredible accuracy... she adores the Beatles... even though she doesn't speak, her eyes say a thousand things.

As her aunt, Yuli, paraphrases the Beatles: "She can take a sad song and make it better..."

We are determined not to let BPAN "steal" our child. We will take a sad song and make it better...

Unfortunately, governments do not easily fund research for such rare diseases like BPAN. Parents themselves must pave the way and mobilize/fund the scientific community to find a gene therapy.

Fortunately, we are not alone on this difficult journey. There are families before us who have contributed greatly, and thanks to their tremendous efforts, we are on a very good path toward creating gene therapy.

At last year's Million Dollar Bike Ride, with the incredibly moving mobilization of relatives and friends, we raised $34,000 in a very short time, which funded the very important research of Dr. Young Seo, University of Michigan School of Public Health in Ann Arbor, "Charting WDR45-dependent genes for neurodegeneration at a single-cell resolution."

We will not stop there... this year, we are joining forces with ACTION FOR BPAN and climbing Mount Snowdon in Wales on June 21, 2025.

Our goal is to raise funds to support the research of Alexandra's treating physician, Prof. Manju Kurian at UCL/Great Ormond Street Hospital, who is developing a gene therapy for BPAN.

We would be especially happy to have you as allies in our fight!

With immense appreciation,

Alexandra, Nadia, Christos.

#StepUpForBPAN #ActionForBPAN #ForeverGreatful