February 2020
"Let’s start from the beginning……
Lexi Fae was born on March 8, 2016. She was a healthy beautiful baby with a head full of curls, and no complications. Lexi was very 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 was barely crying or fussing in the middle of the night. At 7 months, I recall waking up my husband Tommy at 3 AM in the morning to tell him I just know something is not quite right with Lexi. Sadly, my intuition was right. Due to the lack of motor skill development and hitting typical milestones, we had her evaluated by numerous doctors and early intervention team. Lexi qualified for Early Intervention. It was a bittersweet moment. We were happy Lexi was getting support from many therapists, but our gut instinct told us this is only the beginning. The revolving door of Physical Therapy, Speech Therapy, Occupational Therapy, ABA Therapy, and Music Therapy continued until Lexi was 3 years. All of these therapy sessions were good for Lexi. These therapists are moms and sisters and aunts. They genuinely cared about our little girl and wanted to see her succeed. In those first 3 years, Lexi was able to finally 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! That memory still warms my heart!! No first words yet but I know they will come eventually. During all of these therapy sessions and regular life activities, we had doctor upon doctor visits, hospital stays, blood tests, Seizure evaluations, medication routines, basic genetic testing and the list goes on. This is a lot for an adult let alone a 3-year-old. Lexi handled everything like a champ. Majority of the test results came back normal yet inclusive for explaining Lexi’s delays.
The one test that took our insurance many months to approve was whole exome sequencing (WES). This test cost more than $20,000 but we felt it was necessary and fought hard to have this test approved. The test was done Dec. 2018 and in March 2019, we received a call that the results were in. Tommy and I were not prepared at all for what we heard. Our flippant attitude going into this appointment was because we were so conditioned by all of the other doctor’s appointments in the first 3 years of hearing the medical community could not explain why Lexi is the way she was.
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 were closing in as the doctor was speaking. I experienced my first ever anxiety attack. Thank goodness, Tommy was able to stay calm and gather the important details of the condition. The good news if there is such a thing at this appointment was that Lexi's gene mutation is not hereditary and our 5-year-old son would not be affected.
The bad news and there is lots of that……………… is that this is a neuro degenerative disease which will limit Lexi in many ways. She will lose ability to walk, communicate, eat and have Parkinson like effects as she grows older. Seizure management will be a regular lifelong requirement. There is no cure and no clinical trials. Lastly there are only 100 or so 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 and spent 2+ days crying…. the tears would just not stop. My family reminded me that Lexi is still the same beautiful, sweet girl that has the best curls and longest eye lashes ever! Hearing Lukas say to Lexi, “stop giving me hugs and kisses, I am trying to watch my show!”……………. that is when I realized everything is still the same. This diagnosis does not change the fact that we are blessed.
What’s happening today.... In April 2019, Lexi started a full day special needs school program She is liking it and I am adjusting to the new routine. She now gets her occupational therapy, speech therapy, and physical therapy all at school. She also loves hippotherapy and loves her horse, Duncan. She is currently learning how to use a device to ask for things. Even though Lexi Fae does not speak words, our family and friends get understand her. Her big brother Lukas tells his friends that he and Lexi have a "secret language and I get her!" Every day we fall in love with Lexi more and more. She still loves to give out free hugs and kisses to anyone that wants a wet one!
In the area of research and clinical trials, it is limited. This disorder is so rare that any large pharmaceutical will not invest the time and money to save these 100+ kids. The tenacity and drive of friends and family is the main method to create awareness and raise money for individuals with BPAN. I firmly believe together we can raise awareness and money to make a difference and improve the quality of life for these children. We cannot stay idle and do nothing! Please come together and help make a change."
