WACO, Texas (KWTX) A Central Texas girl with a rare syndrome whose effects range from mild developmental delays to severe physical and intellectual disabilities has been a “little fighter” since the day she was born, her mother says.
Addy Murphy, 4, was diagnosed with CTNNB1 syndrome, which is a mutation or a deletion of the CTNNB1 gene which serves as the blueprint for the beta-catenin protein which allows for cells to grow and communicate.
CNNB1 syndrome affects motor and learning skills.
According to the CNNB1 organization there are fewer than 150 people worldwide who have been diagnosed with it.
Addy’s mother Heather Murphy says it has been difficult not knowing what to expect.
“Whenever I was little, I dreamed of having a kid that would be like all the other kids but she has been such a blessing and taught me a lot more than what I expected to be as a mom,” she said.
Addy used to be confined to a wheelchair, but this week she was able to walk while pushing a grocery cart.
Heather says Addy usually sits in the cart but this week she said, "No momma I push it" and she did.
Murphy, a single mother, says Addy came into this world “roughly” and spent four days in intensive care.
But she says from the day her daughter was born, she’s been a trouper.
“I call her my little fighter,” Murphy said.
While the newborn was in ICU, Murphy says she told her, “Hey we are going to do this and we are going to do it together. It's me and you girl. It’s me and you.”
Murphy says she has a great support system in her family and friends, whom she calls her “village,” but there is another group that has also made a huge difference in caring for Addy.
She has found that comfort in a closed CNNB1 Facebook group.
“I learn more from that Facebook group than I do from the doctors because I can go on there because parents are dealing with the same issues I am,” Murphy said.
She says there are about a half dozen children in Texas with CNNB1 whom she knows from the group and she hopes to one day get everyone together.