Update: November 2019

I’m not sure if anyone is still following this blog – but I am sure that families of newly diagnosed kids probably come across it now and then. I thought an update might help as encouragement in those difficult days of diagnosis and uncertainty.

I just had Jacob’s first parent-teacher conference of his Junior Kindergarten school year yesterday. Jacob is 4 1/2 years old, turning 5 in February. He is curious, capable, charming and funny. He loves books, music, Spiderman, and making friends. He has weathered so much in his young life – but nothing seems to get in the way of his joyful and enthusiastic approach to life.

Jacob is now completely off of the metabolic formula and getting all of his calories from food. He’s picky like your average toddler, but his growth is right on track and his bloodwork indicates that he is healthy and well nourished. He even eats school lunch now and then, and his teachers are great about working with me on a google doc to keep track of his food. He also had his g tube removed this year (!), which was a long process that required two surgeries. He was actually reluctant to have it removed, but he seems to have completely forgotten about it at this point.

I have been working with his metabolic team to eliminate interventions, in the hopes that Jacob’s body can do most of the work to keep his brain safe and healthy. So far, he has responded well to all of them. All signs suggest that he will live a “normal” and healthy life until such time as there is a cure for citrullinemia – which I believe there will be!

Take a look at this adorable little man. I can’t even. He gives me all the feels.