Austin’s Story (NFI)

Our son, Austin, has Neurofibromatosis Type 1.  It is a mouthful so most of us just call it NF.

NF encompasses a set of distinct genetic disorders that cause tumors to grow along various types of nerves and, in addition, can affect the development of non-nervous tissues such as bones and skin. Neurofibromatosis causes tumors to grow anywhere on or in the body.  It can also cause learning and motor delays, deafness and cancer.

Usually diagnosed in childhood, NF is a life-long disorder with a variety of potential complications and variation in severity.  NF affects both sexes and all races and ethnic groups equally and is more prevalent than cystic fibrosis, Duchenne Muscular dystrophy and Huntington’s disease combined.

One in 3000 are born with NF.  It is either inherited from a parent, or it is a spontaneous mutation.  Austin’s NF Type1 is a mutation.

Our road to learning that Austin had NF was long.  On the day of his birth, I thought I had a healthy baby.  That lasted for about 20 hours, then we were told he had a heart defect that had to be corrected with surgery.  It is called Tetrology of Fallot and is known to be one of the “blue baby disorders.”  This means his lungs send partially un-oxygenated blood through his body.  It was possible that he could turn blue and go limp.  I was taught to bring his knees up to his chest if that happened.  You can imagine how scary this was for a new mother.  I was overwhelmed with fear.  I hardly left the house.  He could not get sick and it was February, cold and flu season.  I’ll admit, Austin and I learned to appreciate day-time television!  I also learned, during his first few months of life to trust my instincts as a mother.  Strangely, I was the person to decide that surgery needed to happen sooner rather than later.  At four months, his heart was repaired at The Children’s Hospital of Wisconsin in Milwaukee.

After a week in the hospital, we thought we were on the road to recovery.  And we were, but at around 8 months we had many questions about these little brown spots on Austin’s skin. Our pediatrician acknowledged that Austin’s café-a-laits were big enough to merit concern.  Thus, our team of doctors expanded to a Neurologist, who said it was not Tethered Cord, but a Geneticist who, after a blood test, confirmed Austin’s Neurofibromatosis diagnosis.  We were in shock (again) and confused.  We’d never heard of it.  My husband, Joe, came home and did what they said not to do and researched it on the internet.  It scared him and he scared me and the intense fear for our child’s future was back.

My reaction to this news was similar to that of learning about Austin’s heart defect.  I sought help.  I looked for support groups, which there are none in the Madison area.  And, I talked a lot with friends and family.  One of those friends was my dear friend Allison Sitton. At the time she was a breast cancer survivor and she told me “God does not allow us to take on more than we can handle.”  I hoped she was right, but to be sure, I decided I better get stronger and smarter about how to be proactive.  I also recognized that my role as Austin’s mom included being an advocate.

Advocating for my child means a lot of things.  One way is to raise awareness whenever and where ever I can.  I once talked to first year medical students at UW about being a parent of a child with NF.  That is partially why I am adding Austin’s story to this website.  I even tell fundraising callers about NF when they ask for donations.  It is frustrating that it is so prevalent, and yet people are generally unaware.

Of course, fund raising is also an important component of my role as Austin’s advocate.  In my efforts to do so, I found the Children’s Tumor Foundation.  CTF is a non-profit medical foundation, dedicated to improving the health and well being of individuals and families affected by Neurofibromatosis (NF).  Their mission is to encourage and support research and the development of treatments and cures for all types of neurofibromatosis, support persons with NF, their families and caregivers, expand public awareness of NF, increase the non-affected population’s understanding of the challenges facing persons with NF, and encourage financial and other forms of support from public and private sources.

Coping with NF is not easy, but CTF gave me an opportunity to DO something to help Austin and other children with NF.  Through their NF Endurance Team, I could FIGHT BACK!  With the program in place, and a great group of people to help with training and fund-raising, “all” I had to do is run or swim!  That said, whenever I got tired or frustrated, I thought of Austin, of how much he’s been through and what could be in his future.  My journey to raise fund and awareness for those affected by Neurofibromatosis has lead me 26.2 miles through the streets of Chicago (Chicago Marathon 2011), into the choppy waters of Lake Michigan for a three mile swim (Big Shoulders 2012) and across the East River from Brooklyn to New York City (NYC’s Brooklyn Bridge Swim 2013).  Last summer, I swam alongside the Golden Gate Bridge in San Francisco (Golden Gate Bridge Swim 2014).  This summer, on August 1st, I will swim 2 miles in Lake Superior from mainland across to Madeline Island, one of the Apostle Islands (Point to La Pointe 2015)!

Austin is so much stronger than me, and it is his face I see when things get hard.  My friends and family are a support source as well.  I am grateful to have such a wonderful and giving group of people in my life.  Together we were “Team Austin” and collectively we helped to ensure for children that the effects of Neurofibromatosis are reduced!  During each of my endurance events, I thought a lot about Austin and the challenges he has endured and I worried about the ones that may or may not be in his future. This pushed me forward one step, or one stroke at a time.

Austin has a lot of doctors: an ophthalmologist, an oncologist, a neurologist, a geneticist, a dermatologist, a cardiologist and occupational and physical therapists (and I am probably forgetting someone). Though he has confirmed numerous small tumors on his sternum, and delays in some neuromotor areas, and is said to be “below average” by his neuropsychologist, he HAS me and his family and the community around him who only see a beautiful, sweet, creative and kind boy.  He is a gift.

I do not know how NF will affect Austin in the future, but I do know it is progressive. That said, I am prepared to face new hurdles and above all else, I will be hopeful, faithful and strong.

My friend Allison always said, “strength for today, bright hope for tomorrow.”