Little Philip had neck surgery on September 12th, where an ENT removed what we thought was swollen lymph tissue that had not gone down in size after over a year. Some of you may recall that he had a surgical biopsy last December 2010 where the first swollen node was removed. At that point we were told that the pathology came back as "nothing" and all blood work since we first became concerned about the large size of these nodes has also come back healthy.
Dr. Woolley, our ENT that performed the surgery, contacted us to let us in late September to let us know that the pathology results on his tissue revealed a neurofibroma benign tumor. This kind of tumor is not malignant but is a nerve sheath tumor that can indicate a condition called neurofibromatosis. Dr. Woolley sent us to meet with a pediatric geneticist that next week.
Due to the confirmation of the neurofibroma tumor in his neck, as well as the observation of several cafe au lait birthmarks, we were sent to Children's Hospital to complete the blood test that provides a 95% accurate diagnosis of either NF1(Neurofibromatosis 1) or Segmented Neurofibromatosis . Dr. Robin, our geneticist,said that it is highly likely that we will receive a positive result that Little Philip has one or the other of these. If that is the case, then we, as parents, will be tested to see if one or both of us is a carrier. If either of us test positive, then they will test Helen as well.
The good news - we have ruled out Neurofibromatosis Type 2, which has more severe complications since the tumors with this disorder tend to show up on the brain and spinal cord. We are thankful that this is not the case for our son.
Also good news, no matter where you are in the country, the blood test for NF is sent right here to Birmingham in the genetic lab we visited today. We are blessed to live in the city with the best NF specialists.
Bad news - We will not know the results of the blood test until the middle of November. We are seeing an ophthalmologist in mid-December to examine Philip's eyes for lisch lesions on the iris (benign, do not affect the sight, but are indicative of NF1 so this could further confirm a diagnosis). .
Since most NF1 and Segmented NF patients lead a completely normal life, many not even aware of their prognosis, we are praying for only routine tests that reveal nothing of concern. I won't bore you with the details of how NF could develop of the course of Philip's life but in a nutshell, grade school and the onset of puberty are when NF complications can arise so right now and at puberty will be the times we will be closely monitoring him for any growth in tumors that could be the cause of learning disabilities, cosmetic disfigurement, etc. We are trying not to let our minds go to these scenarios.
Despite the uncertainty, we are thankful to God for this prognosis. When we received the initial call from Dr. Woolley, there are much more terrifying things that he could have told us. We have friends who have received such a terrifying phone call and our heart goes out to them. Big Philip and I have drawn closer in our desire to be faithful in our relationship with God. We have wrestled with questions, doubts, fears, but ultimately rested in the peace of knowing that God does not make mistakes, and that He has a plan for our son to prosper, not harm him (Jeremiah 29:11). We continue to be prayerful and vigilant as we wait for the blood test results and be the "normal" family we always have been (some of you have met other members of our gene pool and should be laughing right now).