I get asked a lot about Nathanael, what he has, what causes it, what it means, and how did he get it. So let me first say I’m not a doctor, but I am going to try and walk through our experience with  NF1 as well as I can, and start with when we knew something was wrong.

As a baby Nate was pretty opposite from his sister, Addy was easy, breezy, happy, and ahead of the curve in pretty much every way. She was the kind of baby that made you think “ Why do people say this is hard? They obviously aren’t as good at this as me!” Don’t worry, I’ve change from my superior judgemental parenting mindset. Ha! Nate came along right after Addy was eighteen months, and boy were those first few months a whirlwind. He cried all the time, it didn’t matter what he ate, when he ate, how much he ate, he cried. Since we had no real reason to believe there was anything serious going on, we went through all the normal things with his pediatrician, looking into colic, acid reflux, and diet. When he was five months, we noticed that his right leg bowed significantly more than his left. He had just gone through a growth spurt and it was very noticeable that something there wasn’t right. I took him into the pediatricians office, and I’ll never forget her looking Nate over, the look of confusion and the sting of questions about his well being at home. She said Nate’s leg looked broken, but it didn’t seem to be causing any pain. Of course from a medical side I can understand why she asked so many questions about who was around him, who was allowed to be alone with him, and if things were alright in our home, but as a very emotional mother, I was crushed that anyone could think I would do anything to harm my child. We were sent to an orthopedic center in our area the following week, and after a parade of doctors came through and looked at him and his dozen or so X-RAYS, I was surrounded by five specialists, they closed the door, and like rapid fire I was being accused of abuse. I was shaken to my very core. After defending myself and our family for what seemed like an eternity one doctor asked if there was any history of genetic conditions in our family. I went through all of our history and there was nothing that sounded related. They sent me home with information about pediatric specialists and what to do next, I know they gave me a lot of information,  I know somehow I got Nate dressed and back in his car seat, and I know I walked to my car, but all I remember is the feeling, the overwhelming, heartbreaking, brain foggy, numb feeling. I sat in my car, and sobbed uncontrollably, I knew I needed to call Micah and let him know what the doctors said, but I couldn’t form a coherent thought, let alone speak. The only thing I could think was, how could I not know? For five months, he had been living with a broken leg, and I was giving him gripe water? I was sure I wasn’t fit to be a mother. All of those judgmental thoughts I mentioned earlier of how I was better than other moms, right out the window.
I had a follow up appointment with Nate’s pediatrician and we started a path of looking into what the cause could be. One of those specialists we saw mentioned a genetic condition that affects less than 200,000 Americans each year, it was rare, but it was a start. I will say through this whole experience I have learned that having a good pediatrician, that cares for your kids is a blessing. We met with the head pediatrician at the office we went to and discussed the x-rays and symptoms, and he agreed that even though it’s a long shot we should start looking into that rare genetic condition. Geneticists are few and far between in our area apparently, but our Pediatrician stood with me in the doctors office and called three until he found one that could see us within three months. We had an idea of an orthopedic surgeon we wanted to see already and he sent the paperwork for the referral before we left the office. The next little while was a waiting game of getting into specialists. I hate waiting. We were seen by the orthopedic doctor first, I knew half way through the appointment when he was explaining his plan of action, he wasn’t the doctor for us. He was pleasant enough, but my mommy heart couldn’t deal with what he was saying. Standard procedure for this type of situation was to wait until the leg re-breaks and go from there. I couldn’t fathom this, I already said I hate waiting, but waiting for something horrible to happen to my baby seemed like real life torture. So back to the pediatrician we went, and we talked about DMC Children’s Hospital, he made some more calls and we were able to get appointments within the month. Overwhelmed doesn’t even begin to describe that month, it was finally time for our genetic appointment, He confirmed that it was Nuerofibromatosis Type 1. We learned all about it, it’s a condition that affects the nerve endings, causing benign tumors to grow. In addition pseudo arthrosis (what caused his leg break), cafe au lait spots (the multiple dark spots that kept appearing), and learning disabilities. Next was the appointment with the optometrist, eye exams are important because with the possibility of tumors growing on nerve endings, making sure he didn’t have any signs of blindness is something we have to test regularly and constantly evaluate. Ultrasounds of all internal organs, MRI’s of his spine and brain are all parts of his yearly or bi- yearly exams. We have had two surgeries thus far on his leg, but this post is already long so I’ll save those stories for another time. This was by far the worst time of my life, I like control, I like predictable, I thrive in routine, I was so far out of my comfort zone. I learned very quickly that I was not just Nate’s mom, but also his number one advocate. I’m so thankful for our support system, family, friends, and coworkers that understood my mental breakdowns and when I would need a shift covered last minute. I’m thankful for the group of doctors we have, that don’t judge me when I burst into tears or ask a million questions. I’m thankful that Nathanael’s test, have all been normal, that there haven’t been any complications during surgeries and that he is growing and overcoming so many obstacles.
Life can throw so many curveballs, and it can be overwhelming and messy. I have learned so much from my little man, but my biggest takeaway is to never stop looking for the positive.