February Is Noonan Syndrome Awareness Month [SOUTHCOAST VOICES]
THIS GUEST OPINION PIECE BY: Tiffany Botelho, a wife and mom of three boys.
The month of February is well known to be Black History Month. We get to hear little snippets of facts that we didn't know about African Americans, and the contributions that were made.
It has also become a month to raise awareness for heart health. This, again, is a very important tidbit to know.
What is less known is that February is also Noonan Syndrome Awareness Month.
Noonan Syndrome is a multi-system genetic disorder. It occurs in about one in 2,500 people. There are several mutations of the disorder including PTPN11, SOS1, RAF1, and KRAS. It affects the heart, lungs, kidneys, skeletal structure, muscle tone, and other organs, as well as having learning and hearing problems.
It is usually identified through genetic testing, but a negative test doesn't necessarily mean negative.
It can also be diagnosed through clinical features. Noonan syndrome has distinctive facial features. Those affected also tend to have short stature, a broad or webbed neck, and unusual chest shape, among other issues.
It is also autosomal dominant which means that only one parent has to carry the gene, although there are some cases of spontaneous mutation. Each pregnancy is a 50-50 shot. For my family, we won the lottery.
I learned all this when my husband and kids got diagnosed with Noonan Syndrome in 2013. When my oldest son was nine years old, we had his annual physical. The doctor noticed then that something wasn't right. In a year’s time, he had not grown or gained weight. We got sent to Boston Children's Hospital to find out the cause.
We saw a neuropsychologist first. He did some blood work and an evaluation, but he couldn't figure out why my son did not grow or gain weight. He referred us to another doctor. We saw a neurologist who did an evaluation and blood work. Everything came back normal.
We got referred to a gastric specialist and nutritionist. We saw the nutritionist. We got ideas on proper weight gain. When we saw the gastric specialist, he wanted to do a procedure that we didn't feel comfortable with. He referred us to an endocrinologist.
The endocrinologist is an amazing person. He saw my son and suggested that we do the genetic testing for a syndrome that I had never heard of. He tested him for Noonan syndrome. I work in the medical field and had never heard of that. The testing came back negative, but I was told that it doesn't mean a clinical diagnosis is out of the question. We met with the geneticist, who saw my son and diagnosed him with Noonan syndrome. The next month, she diagnosed my husband and all three kids with Noonan syndrome. The following year, genetic testing confirmed Noonan syndrome with SOS1 mutation.
Our lives changed with the diagnosis. I have to make sure that my kids get their hearts checked regularly. I make sure that the nebulizer is ready at all times. My middle son has to get his kidneys checked out every year due to medical issues. There are learning issues involved. My kids have glasses. They have hearing issues. About two years ago, all three were diagnosed with autism as well. After further research, I found out that there are different syndromes associated with different mutations. My family's specific mutation is associated with autism as well.
We had to alert the schools of what we had learned with everything. Some things were easily accepted. Some things weren't. It is an ongoing battle. Every parent will have some kind of issue with their kids. It's very rare when there are no issues. There are school issues. It doesn't make a difference what school the children go to because every school district has issues. Our school district is no different. I have had to fight very hard to make sure my kids get everything that they need. Honestly, it hasn't always happened. Sometimes you just have to pick your battles.
Just like when it comes to your kids, you pick your battles. My youngest likes to wear weird things. I'm at the point now that if I say "put your socks on,” he may put socks on, but they may not be his or the same size. As long as he has socks on his feet, I'm ok. Last week, he decided he wanted to be fancy. He wore a t-shirt with a button-down collared shirt over it. He also had gym that day. He wore his sweat pants with it. That's what he wore to school.
After everything that has happened, I learned to embrace the weird. My job is to make sure that my kids are happy and learning to the best of their ability. That's why I wrote my book A Day in the Life. I'm raising awareness of Noonan Syndrome as well as autism. What it's like, day in and day out, for us as parents. Everything we worry about. It's not just about us. It's about every parent. We fight hard for our kids, as we should. Let's raise awareness.
February is also Noonan Syndrome Awareness Month. The most common disorder you've never heard of.
Editor's Note: 'SouthCoast Voices' is a series of guest opinions from newsmakers across the region, on relevant issues that directly impact the people of Greater New Bedford and the surrounding communities. The opinions are solely those of the author. If you are interested in contributing, please contact firstname.lastname@example.org for more information.