Noonan Syndrome Awareness Month: Parker’s Story

Happy February… or as it’s referred to in our house, Happy Noonan Syndrome Awareness Month.

Show of hands who has ever heard of Noonan Syndrome (NS)? I’m guessing not many hands are up right now. NS is nicknamed “The Most Common Rare Syndrome You’ve Never Heard Of.” It takes second place only to Downs Syndrome. I, too, had never heard of NS before the summer of 2011.

Let me back up a bit. In the fall of 2010 my husband, Tyson, and I were anxiously awaiting the birth of our third child, and on September 16, 2010, at 6:26 p.m., our sweet little Parker was welcomed into life. He was something beautiful at a small 6 lbs. 1 oz. and 19 ¾ in. long. Parker had jet black hair and the most gorgeous eyes. However, we quickly found out that he was having a hard time gaining and holding onto weight. At just three months old, Parker was diagnosed by his pediatrician with failure to thrive and a severe milk protein allergy.

As parents, the diagnosis of failure to thrive hit us hard. We couldn’t help but think, What are we doing wrong? Parker’s doctor assured us that we were doing an exceptional job and decided that our little guy just needed to be put on a special and very expensive formula. As a nursing mom, this was a hard pill for me to swallow, but of course I wanted Parker’s health to improve. He was worth every expense, and the formula seemed to be helping him out. Parker was slowly but surely gaining weight and he was such a sweet, happy, smiley baby—a truly beautiful gift from God.

At Parker’s four-month check we were told he needed to see a pediatric ophthalmologist. We knew this was coming, so it wasn’t a huge shocker to us. Parker has had a lazy left eye since birth, and we found out at his eye appointment that he was severely farsighted. So, at six months, our little buddy started sporting big blue glasses. He’s such a cutie!

Life was going along well, and again, we were excited to show Parker off with his new little Where’s Waldo glasses at his six-month checkup. At this appointment our pediatrician asked Tyson and I to consider having Parker looked at by a genetics specialist because of all his issues: low set ears (the first we were told of this), eye abnormalities, low muscle tone, and slow weight gain.

This was the very first time I looked at Parker as though there may be something wrong with my precious little buddy. For days, weeks, every time I looked at him I wondered what was going on inside his little body. My head said stay calm, but my heart was breaking into pieces. Until I ran across 2 Corinthians 12:9. He said to me, “My grace is sufficient for you, for my power is made perfect in weakness.” And I realized that it was okay for me to feel weak and scared at this time but that I also needed to remember that Parker is a child of God and that God has a mighty plan for Parker’s life. All I needed to do was love, hold, and kiss that precious baby and wait for God’s plan for Parker’s life to unfold.

Making a long story short… after visiting the Mayo Clinic in Rochester, Minnesota, several times, enduring a multitude of tests and countless hours of fear, it was confirmed in July 2011 by genetic testing that Parker has a rare form of Noonan Syndrome. His mutation takes place in the KRAS gene. Most cases of Noonan Syndrome result from mutations in one of three genes: PTPN11, SOS1, or RAF1. PTPN11 gene mutations account for approximately 50 percent of all cases of Noonan syndrome. SOS1 gene mutations account for 10 to 15 percent, and RAF1 gene mutations account for 5 to 10 percent of Noonan Syndrome cases. About two percent of people with Noonan Syndrome have mutations in the KRAS gene and usually have a more severe or atypical form of the disorder.

So, What Is Noonan Syndrome?

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, opthamology issues, orthopaedic 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. For more information on Noonan Syndrome or how you could help support research or families struggling, please go to teamnoonan.org.

In Parker’s case, there is a lack of research because of the rarity, so we are learning as we go. We have had ups and downs, highs and lows, and I often wonder if Parker will ever know the strength he has shown me or how he has changed my life in every wonderful way possible. I also must praise God for how He is revealing the depth of love I have for all of my children after caring for Parker. Once normalcy is ripped out of your hands you grieve, but then you begin to appreciate every day, every opportunity, every second we are blessed to have life.

Where We Are Now

After the diagnosis was handed down, we as a family were able to take a breath and move forward with caring for our sweet little Parker. We have been through multiple surgeries, tests, therapy sessions, doctor visits, and talks about how Parker may or may not end up. On bad days we rely on our faith and our family, on good days we make every minute count. But every day we are shown how blessed we are to have been chosen to parent this beautiful child with special needs. He teaches us something new every single day, and I am learning more by being his mommy than I could have ever imagined possible.

Parker is so fortunate to have so many people loving him along with us. And I invite you to hop on to take this ride with our family. I am more than excited to share Parker and hope that the lessons I am learning just might touch someone else, too. Follow along at parkersstory.wordpress.com.

Thank you for the opportunity to share Parker. Oh, and Happy Noonan Syndrome Awareness Month!

Meet Guest Blogger Crystal Underwood

One of my favorite titles is “wife” to an amazing man, my prince charming, Tyson. We have been married for 13 years, and “wow” has it been an incredible ride.

My other favorite title is “mommy” to our four beautiful children. We have three gorgeous girls: Klaire is 12, Emmie is 8, and Charlie is 3 years old.

Parker is our one and only boy, but oh is he something special. He is four years old and an absolute light to our family. Don’t get me wrong, we love all of our children! But here comes one more title—“Special Needs Mommy.” This was a title that not once crossed my mind as a young girl planning out my life, but how thankful I am that God knows me better than I know myself. Parenting Parker is a journey that I never expected to venture into, but I sure do love my tour guide!

When I’m not wearing the hat of mom or wife, I am blessed being with friends and family. God has placed a burning in my heart for the fellowship of women. I love being surrounded by my Sisters in Christ and strive to be an encouragement in that area. I love to laugh! I value being involved in our home church, Christ Community Church in Ames. I also enjoy comfort food, chocolate, and spandex pants.