Will, Noonan Syndrome

Welcome to Tatum’s Tales. I feature children who have rare genetic diseases, syndromes, and other special kids. Parents submit a story about their child and in exchange for sharing their story on the blog I give the family a complimentary mini session. Please leave a comment on the blog to show your support for these children and families. Even better, Share this to your facebook page so more people can hear their amazing stories!

My sister referred this brave little man, Will and his family to me, She worked with his mom at Lipscomb University and then later his dad when she changed jobs. She was so inspired by how positive they were after Will’s diagnosis. Later came to find out that his mom was my sister in-laws “big sister” at Lipscomb University. One of my very good friends son also has the same syndrome that Will has and they have connected through social media. Talk about a small world! So, now let’s get onto Will’s story as told by his sweet momma.

Meet, Will!

“On June 13, 2011 our world changed forever. The most beautiful baby boy came into the world and stole our hearts. A little jaundice and with abnormal blood results, Will earned a trip to the NICU. As new parents, we were not quite sure what this meant and were scared but knew Will was in the best of hands. On June 18, we were able to bring him home for what we thought would be a typical and uneventful childhood. We were up in the wee hours of the night, rocked our fair share, snuggled and oohed and ahhed over this precious gift.

It wasn’t until Will was 4 months old that we started putting the pieces together. He was sent to a cardiologist for a heart murmur. The cardiologist asked us if we had ever heard of Noonan Syndrome…. And that is what started the ball rolling.

Will was 8 months old when we received the results of the genetic testing that confirmed what we already suspected. He was officially diagnosed with Noonan Syndrome on February 1, 2012… a day that will forever be etched in my memory.

I was at work about to head to our College wide devotional when my cell phone rang. I ran back to my office knowing it was “the call” to hear the words, “Is this the parent or guardian of William Terry?” I swallowed. “Yes mam, it is. This is his mother.” The genetic counselor on the other end of the phone responded… “William’s results confirmed our suspicions. He does have Noonan Syndrome. Do you have any questions?” Questions, do I have any questions? You just told us the sweet little baby we are head over heels in love with has a rare genetic disorder that we know nothing about yet I cannot even think clearly enough to ask one question. I proceeded to call his dad in tears and was barely able to utter the words. I didn’t even need to utter… he already knew. We were quick to let family and friends know because we needed all the support we could muster. And so our journey with Noonan Syndrome began. Words that once seemed foreign became common language. It was at this moment that a sweet dear friend shared with us the letter Welcome to Holland.

What do you mean Holland? That is not what we planned! We certainly did not plan to be in 13 different specialists’ offices twice a year or to have five different types of therapy going on at once. We didn’t expect to be admitted into the hospital most every year for what others would call a common cold. We didn’t plan to choose schools by which one best met his needs. We didn’t plan to give him handfuls of medications multiple times a day. We didn’t plan on multiple surgeries. None of this was what we had planned and prepared for.

As parents, we have thrown all books about parenting and children out the window. What once were books piled on our nightstand with information on how to raise a “typical” child are now medical journals, the latest research initiatives, and books about issues we are facing and how to make Will’s life better. What once was an easy decision about medical coverage and benefits is replaced now with a detailed policy to read and careful calculation of which plan costs less in the long run knowing you will meet your deductibles and maximums. What once was an easy application packet to send your child to school turned into forms upon forms upon forms which are based on tests upon tests upon tests to get your child the services they need. Will’s folder grew from what was your typical school application to voluminous pages of psych/ed, speech therapy, occupational therapy, feeding therapy, and physical therapy assessments on top of medical records.

And what you must remember, is those voluminous documents represent the face of a child. The heart and soul of a child. And there is no folder big enough to fit all of the good that can come along with this sweet soul. And those who come in contact with your family will need a new guidebook, will learn a new language and will have the opportunity to change a child’s life… to get a glimpse of Holland.

Sure, we expected our life to be different, just not this different. School choice looks a bit different. Teacher conferences look a bit different. Time with friends looks a bit different. Doctors’ appointments look a bit different. Vacations are a bit different. Eating out is a bit different. Schedules and routines are a bit different. Needs are a bit different. Typical milestones are a bit different… and that is ok. Different is just different.

If we focus too much on the different, we forget to enjoy the lovely things about Holland. Will is the most energetic, thoughtful, fun, confident, imaginative, hard-working, happy, adorable, friendly, determined, persistent, blissfully unaware, six-year-old boy. Because of his needs, we have formed deeper relationships, met and loved new people on our path, learned to look past the superficial, and discovered what it means to be thankful in all circumstances.

We realize what is truly important. It is not the guidebooks, the language, the school experience, or even your plans. What matters is the sweet boy whose eyes peer from behind his glasses in the morning as he comes riding down the hall on his scooter in the morning ready for the day. What matters is the sweet boy whose hands are always busy playing or helping others. What matters is the sweet boy whose mind is always racing because he is busy dreaming. What matters is the sweet boy whose arms wrap around our neck to give us snuggles before going to bed at night. But we did not get to this realization alone.

It takes a village… A huge village… If it were not for our parents, family, church, friends, co-workers, teachers, therapists, doctors, nurses, our Noonan Syndrome family, and neighbors Will would not be who he is today where he is today. To manage Will and his needs take effort. And these individuals have been gracious to share in the effort of helping Will be the best he could possibly be.

When looking back on the last decade, it is easy to see how God was at work. Upon graduating college, I went to work for Easter Seals teaching at their preschool. Almost half of the class were not typically developing. My eyes were opened to Holland… and I had no idea in a short time I would call Holland home. Once we knew Will had a heart murmur, we tried to get into see a cardiologist as quickly as we could. It is not a coincidence that a cardiologist who I once saw had a last-minute cancelation and we could get in the very next day at 8:00 am. It is no coincidence that he is the one who first mentioned Noonan Syndrome. It is no coincidence that I worked with a geneticist who put us in contact with a geneticist at Vanderbilt Children’s Hospital who ordered the genetic testing before ever meeting Will. It is no coincidence that the first school Will attended had a big Dumbo plastered outside the front doors. (Those of you who know Will know he loves elephants… adores elephants… is obsessed with elephants) It is no coincidence that God gave us one of the best gifts we have ever received. God’s plans are always better than our own.”

To learn a bit more about Noonan Syndrome, visit: teamnoonan.org

Noonan Syndrome is Noonan syndrome (NS) is a variably expressed, multisystem disorder with an estimated prevalence of 1 in 1,000 – 2,500 births. People with NS may experience bleeding issues, congenital heart defects including hypertrophic cardiomyopathy and/or pulmonary valve stenosis, lymphatic abnormalities, small stature/growth issues, feeding and gastrointestinal issues, failure to thrive, hypertelorism, learning disorders, autism, unexplained chronic pain, Chiari malformation, hypotonia, ptosis, skeletal malformations, laryngomalacia, tracheomalacia, ophthalmology issues, orthopedic issues, oncology issues and much, much more. Because of the variability in presentation and the need for multidisciplinary care, it is essential that the condition be identified and managed comprehensively.

This family was an absolute joy to work with! I’m so thankful to have spent a morning at the Christmas Tree Farm this fall. Will is such a sweet big brother so I thought I also needed to share some of the other photos we took.