That’s all that makes the difference for my son. One copy of the gene associated with NF is missing four letters out of 350,000 base pairs. Four letters have turned his life upside down.
Of course, he was born this way. We have only just learned what was already inside of him.
We spent the better part of today at the hospital. I held Benji’s foot as he screamed for five of the longest minutes of my life inside the MRI machine. We talked with the NF specialist, who reassured us of the variability of the disease and that he is still fairly likely to have minimal symptoms. Then we talked with the neurosurgery department, and they assured us that there is nothing of concern about his large head size at this time. For now, we can chalk it up to the fact that both sides of his family have large heads, and also that large head size is a common quality of people with NF.
On the positive side, this knowledge is power. We will keep up with regular doctor appointments to make sure no small problems get too big to manage before we find them. This means that he will see his NF specialist again in 6 months and he will have a full MRI to check for any major changes in his brain or spine in 9 months.
In the meantime, we will love on him. We will let him be the sweet baby he is. We will give him the therapy he needs to build up his strength and catch up with his peers’ motor skills. We will try our best not to let worry get in the way of this love.