Noonan Syndrome. Have you heard of it? I hadn't until Sara was born. Prenatally, we had a lot of genetic testing done with the sample that was collected from my amniocentesis. All the testing came back negative - they tested for all of the most common chromosome disorders as well as deletions and mutations. We were relieved in some ways, but also left to wonder what was causing the extra fluid around her lung and heart. The cardiologist noted that it wasn't because of her heart defects.
After Sara was born (September 2014) a geneticist came by and assessed Sara in the NICU. He thought she had a few mild characteristics that are common in Noonan Syndrome (lower set ears, extra skin around her neck), so he suggested sending a sample of Sara's blood for that specific test. We decided to go ahead with it, and they warned us that the results could take a few weeks to get back.
3.5 months later....in December 2014 we found out that Sara tested positive for Noonan Syndrome (specifically a mutation on the PTPN11 gene). It was honestly good to have this diagnosis. This genetic mutation was the cause of her heart defects, and other problems. Since neither Reid, nor I, nor any of our boys have NS, we know that Sara's was caused sporadically.
Many people born with NS do well (with close medical treatment), and live pretty "normal" lives. Others have serious health issues that are a severe struggle for them, and their families. In Sara's case, her heart defects were more severe and complex than usually seen in NS. My heart goes out to all who are affected by NS, all who have lost someone to NS, and all who love someone who struggles with the symptoms of NS. xoxo
Some interesting facts about Noonan Syndrome:
- It is estimated that somewhere between 1 in 1,000-2,500 births are affected by Noonan Syndrome.
- NS is characterized by a wide spectrum of symptoms and physical features that vary greatly in range and severity.
- It is an autosomal dominant genetic disorder, meaning that someone with NS has a 50% chance of passing it on to each child.
- It can occur by inheriting the gene from a parent with NS, or it can occur sporadically (as in Sara's case).
- It is often associated with Congenital Heart Defects, blood clotting problems, and short stature.
- Symptoms and signs vary from patient to patient, and it is often called a "hidden condition" as someone with NS may not have any obvious signs to an onlooker.
- Most people affected by NS have a normal I.Q. Some may have mild intellectual disability.
Do you know anyone who is affected by Noonan Syndrome?
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