February is Noonan Syndrome awareness month, so I would like to share some information about the condition I’ve learned through my journey with our son. It’s a genetic diagnosis. Our son was diagnosed in late 2015 through whole exome sequencing. There are characteristic facial features for Noonan Syndrome and a large head size is common.
Many children with Noonan Syndrome need feeding tubes. Even if a feeding tube isn’t necessary they’re likely to need some kind of high-calorie drink or formula to supplement their diet so they can gain weight. Those with feeding tubes do have a reasonably high chance of outgrowing the need for one if they do not have an oral aversion.
It’s common for children with Noonan Syndrome to have cardiac issues. So far we’ve not run into any of them. It was explained to me if they do develop after birth they develop slowly as the heart grows. We follow up with cardiology on a regular basis but not frequently just in case if something does come up it will be found before it becomes a problem.
Noonan Syndrome can be missed even with a well-trained eye. I spent the first months of my child’s life begging everyone around me, his pediatrician included, to believe me that something was medically wrong with my son. Instead of being believed I was told I was overreacting and my son didn’t have reflux. When my son didn’t gain weight like he should I was pushed off to a lactation consultant who was adamant he just needed to catch on to breastfeeding.
I was accused of wanting my son to have a feeding tube and not feeding his formula to him. Some even went so far as to accuse me of mixing his formula incorrectly until they found out I wasn’t the one mixing it, my husband was. I have never felt so alone and broken as I did when I knew at an instinctual level my son was struggling and wouldn’t make it without medical intervention… and no one believed me.
I wouldn’t wish my experience on anyone. Hopefully, by raising awareness, we can also reduce the stigma of having a child that can’t eat enough to sustain themselves. Yes, there are some crazy people out there who do crazy things. However, it’s really much more likely that the child has an underlying medical issue causing the problem. There are many more children out there with Noonan Syndrome than parents with Munchausen by proxy.
According to the NIH, “Noonan syndrome occurs in approximately 1 in 1,000 to 2,500 people.” The Cleveland Clinic notes, “[Munchausen by Proxy] is rare (2 out of 100,000 children).” With these odds, it’s best to give parents the benefit of the doubt and help their children instead of removing your support and attacking an already struggling parent.
Oh Goodness can I relate! My husband and I knew from the day our son was born something was not right. No one would listen to us. He was in the nicu for 3 weeks and everyone said his problem was being premature but we knew that was not it. We begged for help. The doctors brushed us off. The lacation nurses brushed us off. Finally one lactation consultant told me he needed to be evaluated further and agreed that something was not right. We found a pediatrician that was willing to listen to us and it still took another 6 months to get a doctor to insert an NG tube for tube feedings. He was severely malnourished, vomiting nonstop and it seemed like no one cared. I felt so alone. The medical community failed my son repeatedly by not listening to me. He was literally starving every single day. Barely retaining a few ounces. I had to turn into a raging maniac screaming at nurses and doctors at the hospital to help. I will never be able to get over the trauma we went through.
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saben a mi hijo no se supo sino cuando llego a tener 14 años igual fue un largo sufrimiento tanto para el como para nosotros
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I’m sorry to hear your journey was so difficult. Thank you for your comment.