Kindergarten Is Around the Corner

 Our wonderful elementary school PTO tied beach balls and welcome to school cards to all the incoming new kindergarteners mailboxes this week.  Helen is the second youngest child on our street so all of our neighborhood friends came out to congratulate her when we arrived home Monday evening.  Helen was very excited and can't wait.  Her parents, on the other hand, are stocking up on tissues at Costco.  Where does time go?

Helen's Eye and Genetics Appointment

We expected Helen to be a blubbering mess at her eye appointment after Little Philip's meltdown over the dilation drops at his appointment a year ago.  But our defiant and spirited little girl, always looking for a way to one up big brother, showed incredible cooperation and curiosity.  As cute as it was to watch her go through her first eye exam, the most important outcome was that there was no sign of optic glioma tumors that are sometimes associated with NF1.

We place a check in the good news column and it begins to sink in that we have not one but both of our children now facing a life time of concern over potential complications that come from an NF1 diagnosis.  As always, this is where we ask God to give us peace and strength to weather the storms.

48 hours later...

We met with Dr. Korf  and our Ravin Williams, genetic counselor, at our UAB Genetics Clinic.  This is the follow up exam to Helen's positive test for NF1.  We could share so much about what we learned  but again, the good news column gets another check mark since we know of no medical concerns at this time.  She will return in a year for an annual exam.  Here is the interesting information...

If not for Little Philip's tumor, no one would have suspected he has NF1.  The genetic markers for NF1 are 6-8 cafe au lait spots on the skin (CALS), and/or freckling in the armpits or groin.  Most often these CALs are present from birth or shortly thereafter.  Little Philip has 2-3 CALs which is pretty standard for caucasians with no freckling.

Helen has 2 faint CALs.  That's it.

Both of our children's genetic test show that they have the exact same genetic mutation resulting in NF1.  But neither exhibit the usual marks.  Why?  As Dr. Korf stated, we are an atypical situation.

Question we asked today:

If Philip's NF1 is so atypical but he has a largely inoperable tumor, is that indicative of a potential tumor concern in Helen as well?  Why not provide a baseline head/neck MRI?
Not necessarily, but there is no scientific link between the type of genetic mutation that results in NF1 and the way in which the condition manifests itself in a patient.  There is no effective treatment to shrink or remove neurofibroma tumors.   You can only attempt to treat symptoms.  So there is no point in doing an MRI unless symptoms are present (headaches, back paint, etc.)

Because of this, and pretty much for the betterment of scientific research, we elected to have the genetic blood test today ourselves.  Dr. Korf reminded us that each of us is 38 years of age and have no known NF1 medical concerns.  We could speculate that Helen's NF1 would progress in a similar path through life.  We pray this is the case.  Maybe one day our family genetic testing will add information to track what NF1 mutations can better predict associated complications.   Right now that is not possible. Maybe the additional of our two tubes of blood will lead to effective courses of treatment to kick this genetic condition to the history books for good.

We know that it is statistically impossible that one of us did not pass NF1 on to our children.  It does not matter who did it, and we have talked about this extensively.  If this test provides another genetic link to finding out more about NF1 and how to find a cure or a course of treatment, then count us in.

There will be no guilty feelings or thoughts when we find out.  God provided us with the beautiful ability to pass on to our children Daddy's gorgeous brown eyes and Mommy's stubborn will power.  What brings this mother's heart the greatest joy is seeing that God has also passed on to us two tender hearts that show early signs of chasing after the will of our heavenly Father.

There is a reason this is happening in our family.  God intends it for His glory and we pray that we are salt and light to those in fear and darkness facing a new diagnosis of NF in their family.  We cannot make it go away but we will come and walk alongside other local families to support and encouragement them.

Next week Little Philip will see Dr. Woolley, his ENT, to make sure that his tumor is not causing any concerns in his facial nerves, vocal chords, and other surrounding tissues in his neck.

Team Moss's Team Page for NF Walk 2013 Nashville, TN

Team Moss's Team Page for NF Walk 2013 Nashville, TN


Our son, Philip, was diagnosed with Neurofibromatosis Type 1 (NF1) in the Fall of 2011 after surgical removal of what we thought was a swollen lymph node on his neck.  The pathology showed that he had a large benign plexiform tumor in his neck linked to his diagnosis of NF1.  The tumor continues to grow and we are under the excellent care of the UAB Genetics Clinic that is part of the Children's Tumor Foundation NF Network of clinics. The care we receive there, as well as the new clinical drug trials and ongoing research provided by the Children's Tumor Foundation is critical to our son's life.

Our daughter, Helen, was confirmed to also have NF1 in January 2013, but she shows no known symptoms at this time.

We are working to educate ourselves, our family, and friends about NF1 and to ensure that our son and daughter have the medical care they for a long and productive life.  We are blessed to be in Birmingham, AL where the top genetic physicians and researchers are on staff at UAB Genetics Clinic and we maintain close relationships with specialists at our award winning Children's Hospital.

Our current prognosis is very concerning with Philip and positive for Helen.   But we have learned much about NF1 this past year, and we know that this genetic disorder is a difficult, worrisome, and complex one for patients and their families.  It is for this reason that we walk in support of finding a cure and improved treatment.

Thank you for joining in support of our efforts here at Team Moss!  If you live in the Nashville area we would love to have you join Team Moss in the NF Walk on Sunday, April 21st!

Happy 5th Birthday, Helen!

Happy fifth birthday to our precious little girl, Helen.  We celebrate a little early this year to make sure we could have as much family as possible to celebrate her special day.  Mamie Moss and our Carpenter cousins came down from Tennessee and celebrated with Helen and her 4K classmates.  We painted pottery and had a delicious princess cake.

Unfortunately mommy will be at a conference on Helen's real March 18th birthday.  Something tells me her sweet daddy will make sure that day is very special too.  Mommy's conference is in Orlando so a travel souvenir from there is certain to bring a smile to her face.

Scouting

This past year, Little Philip began his scouting journey, and this past week moved up to Tiger Scout within his cub scout ranks.  Our son does not like sports, but will begrudgingly participate when we try it from time to time.  His spirit is typically one of obedience so sometimes it is hard for us to figure out what his passions are.  He is passionate about what scouting has added to his life.  As a mother, I am keenly aware of how important it is to take seriously my role as mother to my sweet little boy.  And in order to do that, I have to realize that looking into those beautiful brown eyes is a boy, no longer my baby.  And sooner than I will ever be ready for, that boy is going to be a man.

Oh, how I pray for him to be a man after God's own heart!  I watched him participate in scouts this year and saw the older boys mentor and lead these young boys at various activities and events.  This past week at the Blue and Gold banquet where the boys moved up in  their ranks I watched cub scouts walk the bridge and accept the hand of the young men within their chosen boy scout troops. It reminded me how important it is to surround my son with male friends that will be role models to him as he navigates this broken world.

Train up a child in the way he should go, and when he is old he will not depart from it.
Proverbs 22:6

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.