December Featured Alexander Disease Patient

In the spring of 2015, Jordyn Conn wasn’t walking yet.  She had turned one, the previous December, but her parents were not overly concerned.  In March, Jordyn began having tremors in her upper body which caused her to lose her balance when she crawled sometimes hitting her face on the floor.  She also lost the ability to turn pages in her board books.

 After a normal EEG, the Conn’s were referred to a neurologist who performed an MRI.  The results revealed that Jordyn likely had a Leukodystrophy, based on the pattern of the white matter in her brain.  A month after the Conn’s received the Leukodystrophy diagnosis, genetic testing confirmed Jordyn had Alexander Disease. 

Jordyn’s mom, Amber, immediately sought out support groups online.  She started a Facebook page to share Jordyn’s journey and build her “prayer tribe”.  Amber remembers feeling so lost and looking for anyone who could help their family navigate this new journey.  

 Amber came across Elise’s corner and met the founders Jenny and Chris.  She learned about the Children’s Hospital of Philadelphia and the natural history study.   Amber and Randy, Jordyn’s dad, immediately made an appointment with Dr. Waldman.  That was the beginning of hope.  “Meeting the Leukodystrophy team and other families struggling with AxD gave us hope because we were united in our cause.”  The Conn’s believe getting to know each other and working together will give everyone more hope and passion for finding a cure.  “If we stick together, others will see and understand why a cure is so important”.

“This disease affects people so differently.  We have to focus on what it’s doing to Jordyn and formulate a plan for her to live her best life.  It won’t look the same as anyone else with this disease and that’s okay.  The important thing is that she is happy.  We believe a treatment is coming, but we also know we can’t hold our breaths.  We have to keep moving forward.” - Amber Conn

This month Jordyn will turn 7 years old.  She loves surprises, sharks, music, the Grinch, and especially playing with friends.    Despite the challenges that Jordyn has faced, she continues to love life and fight with everything she has.  Alexander Disease will not stop her from being happy, loving with her whole heart, and living her best life.  She has inspired so many including her mom and dad!