She is the happiest, most lovable girl who has an ultra-rare progressive disease called BPAN that will eventually take her sweet life away too early. There are only 500 known cases in the entire world, and there is very little research being done. Our ultimate goal is to raise money to fund researchers to find a cure and a therapy for kids with BPAN.
Morgan was born a healthy baby on January 12, 2015. She slept, ate, cried and did all the normal things a baby should do. We started to notice some delays in rolling over and crawling but no one seemed to be concerned. Those concerns grew stronger when Morgan wasn’t walking, talking and was missing several other milestones. At 18 months she started OT, PT and speech therapies and we began our search to find out what was wrong. After countless doctor visits, misdiagnoses, tests, and more tests we finally received our long awaited answer about her health. After opening a letter with test results that Morgan had a mutation on the WDR45 gene, I immediately googled it and could not believe what I was reading. I will never forget the excruciating things I learned. This is worse than cancer I thought, how could this happen to our sweet daughter? I called our neurologist and she told me not to worry because Morgan does not have this disease and it’s very rare. We were so relieved, until what we thought was an appointment with a new geneticist, turned out to be the moment we heard the worst news of our lives…that Morgan has the WDR45 gene and it’s likely she has BPAN. The only thing I can remember from that appointment is that our daughter is going to die an early painful death, because of my earlier research. The only note I took during that appointment was there is no cure and no therapy or medicine for her to help with this disease. We were told to join the BPAN Facebook community because not much is known about the disease.
My husband Kevin and I were numb for several months and I couldn’t really even process how to handle this, and I just remember crying and praying that maybe she didn’t have it, maybe they were wrong, "doctors can be wrong", I thought. The more time that passed it sunk in that she really has BPAN. Now what are we going to do?
The thoughts of Morgan suffering an early, painful death were images that I could not erase from my brain. The diagnosis of BPAN meant Morgan would have developmental delays, seizures, early onset dementia, dystonia and ultimately an early death. How can a disease be so horrible to such helpless children? I had never even heard of dystonia and couldn’t believe that parts of Morgan’s body would contract uncontrollably and potentially so forcefully that bones could break. I was reading posts of other families with BPAN and the pain and anguish that these children were facing were almost too much for me to read.
I’m a doer and I can’t wait for hopefully someday someone will raise money to help my daughter and so many of the other beautiful faces I was seeing on the Facebook community pages. I can do this. I’m going to cure BPAN…I just wish I paid more attention to my classes in Biology!
If you’ve made it this far in her story, thank you for hearing our plight. The financial numbers are staggering for even attempting to cure a rare disease and it could take millions of dollars to achieve our goal. There is so much advancement with gene therapy and success with spinal muscular atrophy and potentially for sickle cell that with enough funding I’m confident we can achieve our goals. I’m hopeful that people will hear Morgan’s story and will contribute whatever you can to help us save our beautiful daughter.
If we truly believe, then anything can happen. I know that we will cure BPAN so we can save Morgan.
Kelly Kozole (Morgan’s mom)