Nora

An IKZF4 Warrior

Nora had a normal pregnancy and birth, but immediately had significant difficulties with eating, stiffness, and inconsolable crying for months. Eventually, we would end up at many different pediatric specialists, but every test would only uncover more questions and fewer answers. She had a few surgeries, including getting a feeding tube, and was diagnosed with a neurological movement disorder, but no one could figure out why or what caused all of her symptoms.

In January 2024, when Nora was 3.5 years old, the genetic research team had gathered enough information to determine that a mutation in the IKZF4 gene was likely the source of her symptoms. This gene was only discovered in 2018, and Nora is one of only two patients in the world they know of presenting this way. Obviously, science has some catching up to do, and it will be many years before we understand her gene mutation well.

In spite of it all, Nora is a bundle of attitude and joy! Her determined personality is taking her further than we thought possible, and she's not done proving us wrong. She's been an inspiration to all of us, and we are incredibly proud of our girl!