Our mission, Our Family, and Our Elizabeth

Our mission:

Elizabeth is my daughter, and I started this blog site to help keep family, friends and followers updated regarding her on-going medical and developmental issues.  Elizabeth is such a blessing to our lives, and we want to share her blessings and our journey with you.  This will be a work-in-progress, just like our Elizabeth.  I will update the blog when we have appointments, tests, meetings, thoughts, funny stories, etc. about Elizabeth Jeanne and her journey to get to the root of understanding her various and complex issues.  Please feel free to comment, ask questions, post any tips from your own experience.  Our family appreciates your love, support, prayers, and concern for Elizabeth and our family during this time.

Our Family:

We are a family of four living in Butler, PA.  Elizabeth's father (Jason) and I are both teachers at Karns City High School.  Jason and I are both from the area.  Jason is from Parker, PA and attended AC Valley High School.  I am from Chicora, PA and attended Karns City High School.  We are married, and we also have a son.  Elizabeth's big brother, Celtan, is 4 years old.   He is big, busy, smart, funny and all boy!  He adores Elizabeth.  He often sings to her, wants to help with her therapy, likes to play with her and talk to her.  It is very sweet, and I love to watch the two of them interact together. Elizabeth also adores her big brother.  She constantly is watching him, laughing at him, and she squeals and tries to talk to him. 

Our Elizabeth:



Elizabeth is our beautiful, sweet, funny 18-month old daughter.   She has several medical issues and concerns.  Despite of everything that she has going on, she is the toughest little girl that we know.  She is definitely a miracle, and she is proof of the old adage, "Tiny but Mighty."  She continues to amaze and excite us with her curiosity, motivation, determination, and her sweet smile.  We call her our "Princess," and she loves her big brother, mommy and daddy.  She loves to jump, play with her pom-poms and Princess Sophia doll, and she loves to look at books.  She has several developmental delays, but she is working hard with her Early Intervention Team.   Her EI team is amazing, and they have helped our Elizabeth to accomplish so many goals.  Elizabeth continues to meet developmental milestones at her own pace, and we are continuing to seek answers and help support her in any way that we can.  In July 2015, she was diagnosed with a neuromuscular disease known as Congential Myasthenic Syndrome due to an extremely rare mutation of the AGRN gene, and was also diagnosed with Nijmegen Breakage Syndrome, which effects her immune system. She is truly a miracle.