NF, here we go again...

For a little history on this subject you can read this blog post from 2009.

For a quick recap: the past 5 years we have been dealing with the possibility of Camden (our 11 year old) having a disorder called neurofibromatosis (NF1). We have an amazing neurologist we see at PCH. Camden's last visit was July 2010 and we were overdue (by about 9 months) to see her for a follow up; so today was Camden's appoitment. We always learn a little more each time we go in.

Back in 2009 Camden had many tests ran, he had a skeletal survey (x-rays from head to toe- about 40 in all), an abdominal ultra sound, MRI of the brain and spinal cord and blood work. All these tests are to act as a baseline for the coming years. We also see an eye specialist to monitor his eyes because they can be affected by NF1 but overall his eyes are great. All the test results came back clear in 2009 (after a few repeats) but overall we got good news at that time.

NF can cause thinning of the bones, scoliosis, and can cause benign growths or lesions to form along the bones or skin. So when he goes in for a check up with the nerologist it's important for her to see what's going on inside and outside of his body. I didn't know what to expect for today's appointment as far as tests but after our visit we are having to repeat some of the tests from 2009 to make sure nothing has changed.

I wasn't aware that when they did his last skeletal survey in 09, they saw something on his tibia that could be indicitive of NF. So todays x-rays will be very telling. Hopefully whatever it was will be gone and all of his bones will look as they are supposed to. We get those results tomorrow. We will also be scheduling another sedated MRI of his brain and spinal cord. And we are hoping our insurance will finally accept the genetic blood test his doctor wants him to have. It's an expensive test and will specifically test the 17th chromosome (I think that's the right number) where this disorder is found. Last time our insurance denied it. So we will know in a few weeks if they will do it this time.

So where do we stand? Overall, Camden is a picture of health. He is a happy, vibrant, hardly ever sick kid and the neurologist said he looks great! As long as all the tests come back normal, he continues to be monitored each year and we hope nothing ever comes of it and no diagnosis is ever made. However we stand at the "probable NF1 diagnosis". It takes two diagnostic criteria for a diagnosis. He has one, with the multiple cafe au lait spots he has on his skin and he also has one supporting criteria (not to be used for a diagnosis) with his learning disabilities. A lot of the symptomology of NF can appear around puberty so the next couple of years will be very telling for us.

We are hopeful that this set of tests will come back clear like last time and we can just monitor him the next couple of years. I'm so thankful for health care, for a great doctor, and for PCH. They are on top of things and I'm so thankful Dr. Alarcio is well versed with NF. She even has patients that are dealing with a possible NF diagnosis just like Camden and they come see her from Flagstaff and Tucson.

I'll update you as we get test results back and get everything scheduled.