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