Lexi Fae was born on March 8, 2016. She was a healthy, beautiful baby with a head full of hair, and no complications. Lexi was cute and sweet from the moment she was born. Her first few months of life were typical; however, she was unusually quiet for a newborn. Most mothers would be thrilled that their baby wasn’t crying or fussing in the middle of the night, but for me it just led to fear and anguish.
At seven months, I recall waking my husband Tommy at 3 a.m. to tell him I just knew something was not quite right with Lexi. Sadly, my intuition was correct. Due to her lack of motor skill development and missing typical milestones, we had her evaluated by numerous doctors. Lexi qualified for Early Intervention. It was a bittersweet moment. We were happy that Lexi was getting support from therapists, but our gut instinct told us this was only the beginning. The revolving door of Physical Therapy, Speech Therapy, Occupational Therapy, ABA Therapy, and Music Therapy continued until Lexi was three years old. All of the therapy sessions were good for Lexi. The therapists are moms, sisters and aunts. They genuinely cared about our little girl and wanted to see her succeed. In those first three years, Lexi was finally able to sit and stand at 18 months and take her first steps at 25 months.
My favorite, treasured moment was Lexi’s first smile at 9 months! It finally happened – gummy big beautiful smile!!! That memory still warms my heart!! No first words yet but I knew they would come eventually and even if they didn’t, I understand my girl!
During all of these therapy sessions and regular life activities, we had doctors visit upon doctors visit, hospital stays, blood tests, seizure evaluations, basic genetic testing and the list goes on and on. This is a lot for an adult let alone a three-year-old child. Lexi handled everything like a champ. The majority of the test results came back normal yet inconclusive for explaining Lexi’s delays
One particular test took our insurance months to approve. The Whole Exome Sequencing (WES) test cost more than $20,000, but we felt it was necessary and fought hard to have this test approved. The test was done in December of 2018 and in March of 2019 we received a call that the results were in. Tommy and I were not at all prepared for what we heard. Our flippant attitude going into this appointment was due to the lack of results from the past three years of doctor’s appointments.
On March 18, 2019, our lives turned upside down. The genetic testing revealed that Lexi had an ultra-rare genetic disorder. It was a mutation on gene WDR45, also known as BPAN. My head
was spinning and the walls seemed to be closing in as the doctor was speaking. That day I experienced my first anxiety attack. Thank goodness that Tommy was able to stay calm and gather the important details of the condition. The good news, if there is such a thing with BPAN, was that this gene mutation is not hereditary and our 5-year-old son would not be affected by this awful, disgusting disease. The bad news, and there is lots of it, is that this is a neurodegenerative disease which will limit Lexi in many ways. She will lose the ability to walk, communicate, eat and she will have Parkinson like effects as she grows older. There is no cure and there are no clinical trials. Lastly, there are only about 100 children in the world that have this rare disorder.
Even though I am surrounded by such a great family and friends, I still could not function after getting the news, and spent 2+ days crying…the tears would just not stop. My family reminded me that Lexi is still the same beautiful, sweet girl who has the best curls and longest eyelashes ever!
Hearing Lukas say to his sister, “Lexi, stop giving me hugs and kisses, I am trying to watch my TV show!” is when I realized everything is still beautiful. This diagnosis does not change the fact that we are blessed. In fact, this diagnosis reminds me that life is not a straight line and we need to cherish the time we have together.
What’s happening today.... In April 2019, Lexi started a full-day special-needs school program She seems to be liking it, and I am adjusting to the new routine. She now gets all of her occupational therapy, speech therapy, and physical therapy at school. She is currently learning how to use a device to ask for things. She still loves to give out free hugs and kisses to anyone who wants a wet one!
In the area of research and clinical trials, there is not much happening today. This disorder is so rare that any large pharmaceutical company will not invest the time and money necessary to save these 100+ kids.
The tenacity and drive of friends, family and their networks are the main methods used to create awareness and raise money for individuals with BPAN. I firmly believe that together we can raise both awareness and money in order to make a difference and improve the quality of life for these children.
Can you imagine, as a child, being trapped in a body you have no control over and as years go on your brain will just deteriorate, and you will be in a constant state of pain?
Can you imagine, as a parent living in a constant state of fear and helplessness for your child?
We cannot stay idle and do nothing! Please come together and help make a change.
What is BPAN?
BPAN stands for Beta-Propeller Protein-Associated Neurodegeneration. BPAN is caused by mutations in the gene WDR45 which is located on the X chromosome. The majority of the people who have BPAN are females - the mutation is lethal for most males before birth, however, there are a few males living with BPAN. People with BPAN are developmentally delayed with slow motor and cognitive gains. Typically they are also non-verbal and develop little to no words. Seizures and sleep disorders are typically common with the disorder. During adolescence or adulthood, affected individuals experience a relatively sudden onset of progressive dystonia-parkinsonism and cognitive decline and they cannot regain skills once they have lost them. The average life span varies for individuals with BPAN, but due to improvements in medical care, more affected individuals are living well into middle age.
The future for those diagnosed with BPAN......
The future is bright with your support! Thank you