Unexpected Gut-punch

Hi, my name is Kristine.

I’m a mom to three awesome boys, ages 7, 5, and 9 months. My youngest son, Benji, was born the biggest (9 lbs 10 oz at 39 weeks), but quickly became the “peanut,” eventually falling off the growth chart altogether. This, along with a huge head and some light brown freckles on his stomach, arms and legs, prompted our pediatrician to refer us to a genetic doctor at the local hospital. After examining him, she could not make a definitive diagnosis, but she recommended genetic testing and referred us to a pediatric ophthalmologist. The ophthalmologist could find nothing unusual with Benji, so he passed that hurdle.

A few weeks later, I was feeding Benji his lunch when my phone rang. It was the genetics office nurse with the test results. Benji had the gene mutation associated with Neurofibromatosis type 1.

I had promised my mother not to Google Neurofibromatosis when we first were told he may have it, and while I didn’t do that, I did search it on Facebook and discovered several groups in which people posted about constant pain, severe deformities, and some tumors turning cancerous. Needless to say, I was terrified. After talking with the genetics team, however, I realized that many of the more severe complications of the disorder are quite rare.

That doesn’t mean that it was easy to hear when the call came that Benji did have Neurofibromatosis (NF1). I had hoped that maybe he just had a bunch of unusual colored freckles and was a slow grower. Aside from low muscle tone and some motor delays, he is a happy and healthy baby. He smiles and laughs and interacts with his family. He loves to eat baby food and snuggle. He is sitting up and playing with his toys. I just want him to have a good life, and I will do everything I can to make sure he still does.

The day after Benji’s NF diagnosis, he had a regular 9 month checkup with his pediatrician. While she wasn’t concerned about his growth this time (he is on a curve now, even if he is still small), she was concerned about his head size. It has always been very large (99th percentile), but it seems to be going above even his own curve now. So he has been referred to the neurosurgeon who has ordered a limited MRI next week to see if we can find the cause of this. I am just hoping and praying it is easily treatable.

Next week we will also head back to the genetics office and go over what Benji’s treatment plan will be for the foreseeable future. They will also let us know what we should be looking out for that would warrant an expedited checkup with them. I am hoping these appointments will set my mind at least somewhat at ease.

This has been a rough week, but I know that despite this discouraging news, we will pull together as a family and become stronger because of it. Of course, positive thoughts and prayers are appreciated. Thanks for listening. I will update when I have more next week.


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