Helen's Genetic NF1 Test Result

As shared in the previous post, we elected to have Helen have the genetic test for Neurofibromatosis Type 1 (NF1) at our January 31st appointment with Dr. Korf.  We received the results of that test today confirming that Helen also has NF1.  This means that both Helen and Philip, Jr. have a 50% chance of passing NF1 on to their children, something we have not yet even begun to wrestle with as parents ourselves.

Our next step is to repeat the same diagnostic appointments Little Philip had when he was diagnosed in 2011.  Helen will have a complete eye exam to rule out optic glioma tumors.  None were found in Little Philip which means it is highly unlikely that he would develop them in his lifetime since these types of tumors are almost always present from birth and manifest themselves in very early childhood.  Prayer number one:  that the same outcome will be found for our Helen.

Helen will be examined at the UAB Genetic NF Clinic for a baseline evaluation.  We plan to aggressively push for a baseline head/neck MRI to rule out tumors.  Prayer number two: that the doctors will agree with this decision and that the results will show no tumors.

Prayer number three is that Philip and I will be able to calm our anxiety and fears for both of our children, and remain steadfast in love and faith that God has His hands on our precious children and on our family.

Update on Philip, Jr. - a long one

Philip, Jr. had his second annual head and neck MRI in January to evaluate the status of his existing NF1 tumors in his neck.  Some may recall his fall 2011 diagnosis with Neurofibromatosis Type 1.  It's been a roller coaster for us as parents as we have sought answers and worked to educate ourselves on what NF1. Following the MRI we had a PET scan as well to rule out malignancy of these tumors.  Philip is cancer free and we are very, very relieved not to be facing that challenge.  But he is facing serious challenges.

Philip has two bilateral plexiform tumors in his neck. Both were present at last year's MRI. The good news about these two tumors in his neck is that none of the blood vessels are being compressed.
*tumors show typical target lesions for what a typical plexiform tumor displays (laymen's terms means there is not an obvious indication of malignancy)
*Philip has no pain or discomfort

The bad news:
*The tumors have grown. The left tumor is not as big of a concern having grown about 1/4" in a year. The right tumor has grown 1 inch vertically and 1/4" horizontally.  What you see from the outside of the neck is about 10% of what is actually going on inside his neck.
*His carotid artery is displaced due to the size of the tumor but again, it is not constricted or inhibited by the tumors at this time
*while not currently threatening the windpipe/esophagus, the tumors have grown closer to it, and they could continue to grow where this will have to be addressed

Our wonderful doctor, Dr. Lane Rutledge at UAB Genetics recommended that we meet with her partner and colleague at UAB, Dr. Bruce Korf.   Dr. Korf is deeply involved in clinical trials and research of NF1.  He reviewed Philip's latest MRIs and met with us for almost two hours to explain potential management options.  He is sending MRI records to the National Cancer Institute for volumetric analysis.  If you remember geometry and learning to calculate volume vs. area, you have a better idea of why measuring volume of tumor is better than measuring vertically and horizontally when a tumor is shaped the way Philip's is (see above).

What happens now?
*Philip will repeat an MRI in July 2013 that will include his chest and abdomen.  Dr. Korf believes the tumor in question to be connected to a particular nerve that runs from the brain to the abdomen.   Because of this, he wants to rule out tumor growth that may be below the neck where the last MRI images stop.

Depending on growth, to be determined in July, we are a potential candidate for new drug trials that attempt to shrink or halt growth in plexiform tumors.

Surgery is to be avoided at all cost due to the high risk involving major vessels, nerve function, and the windpipe/esophagus.

* We will meet with Dr. Woolley, our ENT in April 2013 to make sure that this tumor is not affecting vocal chords, breathing, swallowing, etc. 

We had Helen genetically tested for NF1 as well on January 31st.  NF1 is passed on genetically 50% of the time.  The other 50% is a genetic mutation.  We will know the results by the end of February.

We continue to seek God's will for our son. We have learned more than ever before the power of the Holy Spirit as we have prayed for wisdom, knowledge, and strengthened faith through this trial.   Philip is otherwise a perfectly healthy and incredibly happy little boy.  He has the sweetest spirit, beautiful youthful faith in God, and makes us laugh all the time.   Helen is a precious and precocious little girl, who tries very hard to be a sweet and loving little sister but this has been a hard few months for her with so much attention paid to her big brother.    Her birthday is coming up and we want that to be a special time to celebrate the special place she has in all of our hearts as well.  

We are not good about blogging anymore but thought this would be a good way to communicate with friends and family from time to time as we continue to seek medical options for Little Philip.