February 2020
"Our daughter, Madison Ruby Greene was diagnosed with BPAN (Beta-propeller Protein-Associated Neurodegeneration, an NBIA Disorder (Neurodegeneration with Brain Iron Accumulation), on September 16, 2015 at the age of 3 years old. She is 7 1/2 years old now.
Madison was born on July 30, 2012 to Jennifer & Brian Greene, big brother Gavin & now her little brother, Mason.
She was beautiful and seemed perfectly healthy. Within a few months we noticed she was not meeting her milestones (grabbing objects, smiling, giggling, rolling over, sitting up) and at 6 months old she was rushed to the hospital in an ambulance in the middle of the night after having her first seizure at home as she had RSV (respiratory virus) and a fever. She was hospitalized for 10 days. This was the worst experience of our lives and we didn’t understand what was happening. We were thrilled when she recovered from that ordeal, but the fight was far from over. It was discovered in the hospital through MRI that Madison had delayed myelination in the brain, which could in part explain the developmental delays. We were given the vague diagnosis of Global Developmental Delay when we left the hospital. It felt like a ton of bricks hit us. We were worried. What did this mean for Maddie? Will she every catch up? How long would it take? l has BPAN, a subtype of NBIA disorder. BPAN is a neurological degenerative genetic mutation disorder with no cure or medication. This mutation was only discovered 7 years ago in 2012, the year Maddie was born. This was a spontaneous mutation in the WDR45 gene on the X chromosome. It is not hereditary from Brian or me. This mutation happened during conception.
We were in complete shock learning about what our precious baby was born with. We just could not believe it. We searched online for answers but there was so little information available at that time. What we did learn was that BPAN is a horrific disorder. There was only 50 known people diagnosed with BPAN in 2013.
BPAN is an ultra-rare disease and there is said to be 500 diagnosed now throughout the world. The number of people diagnosed have increased by the week as the Whole Exome Sequence blood test is bro g prescribed to patients to get answers. Whole exome sequencing is a robust and one of the most comprehensive genetic tests to identify the disease-causing changes in a large variety of genetic disorders.
Unfortunately, the prognosis of this disorder is not good. It does terrible things to the body. BPAN is extremely debilitating limiting Madison’s ability to communicate, move, learn and live an independent life. BPAN is progressive! Children with this devastating disorder get worse in their teens and early adult years with complications such as dystonia, dementia and Parkinsonism. They will be wheelchair bound, G-tube fed as they have a hard time swallowing & moving their tongue to eat. They can lose their vision as well. Madison will lose the developmental skills she has worked so hard to gain. It gets worse over time, resulting in a painful premature death! BPAN is terminal! This is the worst thing our family has faced, and we never imagined ever having a special needs child, let alone a horrific, debilitating and degenerative disease! No parent can ever imagine this, but we are determined to fight to spread awareness, and to raise money to find a cure!
Madison has made very slow advancement in development over the last 7 years. She suffers from intellectual disability and seizures, so she takes medication twice a day to control them. She is 100% non-verbal. It is very difficult for her to communicate her needs. It is heartbreaking not to be able to hear her talk or express herself. She does babble and makes sounds, but they are not coherent words. She bites the back of her hand out of frustration and puts her finger in her mouth.
Maddie finally started taking independent steps at 4 years old although we can never leave her side as she has no protective reflexes. If she falls, she will fall hard on the ground & severely injure herself. She’s not consistent with walking as often times she doesn’t have a sense of balance. We hold her hand most of to get her to walk. Maddie cannot get up from the floor by herself or sit down by herself. We need to stand her on her two feet and walk with her from room to room. She has gait freezing & spasticity (muscle stiffness). She can’t climb so we need to lift her to get her in & out of chairs, bed, the bath & the car. She is 57 lbs. right now which is really difficult for anyone to lift & move her. She’s just getting bigger & heavier. I’m really scared when the time comes when I won’t be able to move her. Maddie is in diapers and we’re currently trying to potty train her but due to her lack of communication & poor motor planning we’re not sure if she will be successful.
Maddie just learned to crawl at 7 years old! We were so shocked to finally see this! She doesn’t crawl long distances, but she can crawl across her bedroom. She likes to look at herself in the mirror so that was motivation for her. She learned to feed herself using a fork at 6 years old although she still needs assistance especially with liquids. She’s a messy eater but we’re glad she has some independence with eating.
Maddie is currently in 2nd grade at a special needs public school. She has a 1:1 aide with her at school to keep her safe. We have to fight every year with the school district to keep her aide. She receives speech, PT, OT and Adaptive PT at school on a weekly basis. She recently got a tablet from her school so she can start communicating with us and make choices using a program called Go Talk Now. She takes it to school, and it comes home with her so we can use it with her as well. She has not yet mastered it but we’re working on it with her.
Her schedule is so busy with all of her therapy every week. She receives outside PT twice a week and ABA therapy 5 days a week after school. She also goes to Therapeutic Riding on a horse, a movement class through her ABA company and a special needs dance class which Maddie loves!! She should be running outside, playing with friends and playing sports. She is such a fighter and at the end of the day she is DONE!
Maddie is a beautiful, happy, silly and loving little girl with big beautiful eyes. Her signature look are her pigtails, glasses and big bows to match her outfits. She has the best belly laugh and makes great eye contact when you talk to her. She loves music, pressing buttons on toys and flips through books. She loves her brothers and they love her. All they want is for her not to suffer. That’s all we could ever ask for. We cannot imagine life without our precious daughter! We cannot watch this terrible disease destroy her and take her away from us! She is a bright light in the room who brings us joy and sorrow.
We need your help to find a cure for Madison & all of the other beautiful children all over the world who are suffering from BPAN. WE MUST SAVE HER LIFE! Private drug companies are not investing in research for a treatment or cure. We have to rely on private funding from parents, family, friends, businesses and organizations like NBIA Disorders and BPAN Warriors to raise money for research.
Please bring awareness to BPAN and give to fund life-saving research. We will accomplish Madison’s Mission when enough people like you give contributions to the NBIA Disorders Association or BPAN Warriors for BPAN research.
We all love you endlessly, Madison, our BPAN Princess Warrior."
