How NF1 Affects Our Family

Philip, Jr.
When our son was five years old we noticed what looked like a swollen lymph node on the right side of his neck.    After running a course of antibiotics and seeing no change, our pediatrician recommended that we see a pediatric surgeon.  In December of 2010 the surgeon removed a portion of a lymph node in Philip's neck and the pathology for that tissue came back as "reactive lymph tissue."  With that, we waited for him to heal, but his neck swelling continued.

Our ENT removed what we thought was scarred lymph node in September of 2011 but the pathology report shows it was a neurofibroma tumor.  By December 2011 we received confirmation through the genetic blood test that Philip had NF1.  Annual MRIs of his head and neck were recommended as we began to understand more about how NF1 will affect our son's life.  An MRI in January 2013 showed that his tumor had grown back with cause for concern about how it might become invasive with nerve and blood vessel function, as well as vocal chords and breathing functions in the neck.  July 2013's MRI showed that the tumor was stable, with no new growth - great news!  January 2014 the tumor showed growth again, enough to warrant a more thorough review of his situation.  We were directed to meet with a pediatric oncologist, a review with our ENT, and a pediatric neurosurgeon.   Surgery was ruled out as no longer possible.  That left chemotherapy as the only option.  Philip began taking Gleevec, a pill form of chemo in August 2014 and stopped taking in in April 2015 when the tumor grew an estimated 18-20% while on treatment.  Philip was waitlisted for a promising clinical drug trial for pediatric patients with inoperable plexiform tumors through the National Institutes of Health/National Cancer Institute.  We received notification in August 2015 that he qualified for this drug study and traveled to Bethesda, MD in September 2015.  As of September 2016, Philip's tumor has shrunk a total of 36% while enrolled on the study.

 The two greatest concerns for Philip are (1) the 10-15% chance that his tumor may turn malignant in his lifetime and (2) that the tumor could grow to obstruct his airway.  We are confident in the world renown care we receive through UAB's Genetics Clinic and Children's of Alabama, and now,  we add the NIH/NCI to our medical team of support.

In January 2013 we elected to have our five year old daughter, Helen, tested for NF1.  50% of NF1 cases are spontaneous genetic mutations.  50% are passed on from a parent.  In February 2013 we received news that Helen too, has NF1.  To date, she has no symptoms.

Philip, Sr.
Since both of our children have the same known mutation out of hundreds of thousands, we knew that it was passed on rather than a spontaneous mutation.  In April 2013 we received confirmation that Philip, Sr. also has NF1.  To date, he also has no known symptoms associated with his NF1 diagnosis. Both Helen and Philip, Sr. will have an annual exam through UAB Genetics to monitor for any health concerns associated with their NF1 diagnosis.

Our Family
We do not want NF1 to define our family but it is very much a part of our lives as we seek the best course of treatment for our son and pray that no additional complications will arise with either of our children or Philip, Sr.  We are actively cultivating an Alabama community of support for individuals living with NF through the Children's Tumor Foundation to work alongside the UAB Genetics Clinic.  Our goal is to provide support, education, awareness, and fundraising efforts to find a cure for al forms of neurofibromatosis.  To date, the Moss family has raised over $120,000 for Children's Tumor Foundation's research programs through events such as the annual Alabama NF Walk and smaller efforts throughout each year.  We will host the 2016 Alabama NF Walk on Sunday, October 16, 2016 at Hoover's Veteran's Park and hope to not only raise funds for research programs but also connect the Alabama NF community for a day of encouragement and hope.

1 comment:

Ana Taylor said...

Hello there,
My son has a similar case and I would like to get more informations about it. Perhaps, you can guide me through steps you already had taken. I certainly appreciated it. Thank you very much. Ana Taylor