Hey all. Thank you for joining me on this journey with my daughter, Lucia. I figured before anything else we should talk about the reason why I am even here…in the blog world, especially considering this was never really my thing. It all started on June 1st 2018 – when my husband and I received my 13 month old daughter’s genetic blood work results telling us that it was confirmed, she had Neurofibromatosis Type 1.
I can remember the day clearly: my husband took a half a day to come with me to that appointment because something told me I wasn’t going to be able to handle it alone. We were sitting in the geneticists office at the Joseph M Sanzari Children’s Hospital in Hackensack, NJ. I had gone to the previous appointment where they drew her blood alone (well not alone, my friend Jenny was with me during blood draw) and at that point they dove deeply into what NF was, the different types of NF, what they would be looking for, the different types of results we could get, everything. That was three weeks prior. And for some reason this appointment was feeling exactly the same. As my husband was listening attentively and I was carrying the baby, it dawned on me – they are reviewing all of this so thoroughly because she has it. I felt my eyes instantly well up with tears, and I could feel the genetic counselor and Luis glancing at me. Then she said it, “So Lucia tested positive for a genetic mutation on Chromosome 17 meaning that she has NF1.” I don’t think it took a full second for me to start full-on crying and ask “Did I do this to her?” (Warning: I am a major cryer.) My poor husband probably couldn’t even process everything that was happening because they instantly started consoling me.
I hate myself for that moment and I hate myself for every other moment where I have let my emotions make it about me instead of making it about her. After a round of blood work for him and me to see if we had it, a lot of instructions (one of them being to get her left leg checked out buy another orthopedic but Ill save that for later), and a follow-up with her in a year, we left.
I could see the tension in my husband’s eyes and he said to me “I’m not going to work.” I was very grateful for this moment because we had a neurology appointment that afternoon where we would discuss the results from genetics. WE decided to go pick up lunch and head to a park near the same hospital until it was time for our Neurology appointment.
At that neurology appointment it was lot of the same thing. Discuss what this possibly meant for her future, discuss things we needed to have evaluated right now, follow up with Neurology in 3 months.
That night we came home, we played, we went to bed – I cried in the shower and in bed. Lucia enjoying the swing at a nearby playground in between appointments on June 1st, 2018. (13 months)