Katie Thortenson of Chicago is a proud mother of two healthy sons: her eldest, Jake, is 6, and her youngest, Drew, is 2, but often mistaken to be younger. When people ask why he\u2019s so small, Katie explains that he has Noonan Syndrome. \u201cMost people have no idea what it is, so it\u2019s important to raise awareness whenever I can.\u201d<\/p>\n
Noonan Syndrome (NS) is an autosomal genetic disorder, caused by mutations in one of several different genes. The mutation is caused either through inheritance of a dominant gene, or is spontaneous. The syndrome affects physical appearance in a variety of ways, including distinctive facial features, a webbed neck, sunken sternum, low posterior hairline, and short stature. Noonan Syndrome can also affect development, vision, and bleeding. Around two thirds of people with Noonan Syndrome also have congenital heart defects. It is considered a rare syndrome, affecting only 1\/1,000 to 1\/2,500.<\/p>\n
Drew was diagnosed with Noonan Syndrome before he was even born. \u201cAt 12 weeks, doctors knew something was \u2018wrong\u2019,\u201d Katie explained. After a series of genetic testing, and seven weeks of uncertainty, it was determined that Katie\u2019s child was going to be born with Noonan Syndrome. In this case, the genetic mutation was spontaneous, and not passed down from a parental gene.<\/p>\n
Drew was born with two heart issues: the first, Atrial Septal Defect (ASD), characterized by an opening in the wall separating the left and right atria, and the second, mild Pulmonary Valve Stenosis, characterized by an obstructed flow from the right ventricle to the pulmonary artery. Drew was experiencing \u201cfailure to thrive\u201d, meaning that his rate of growth was much below that of other male infants of his age.<\/p>\n
Nothing seemed terribly wrong with Drew when he went in for a routine echocardiogram. Luckily, the technician noticed shadowy spots in his lungs that would later be identified in a chest x-ray as food particles; Drew was experiencing pulmonary aspiration. One week later, Drew lapsed into respiratory distress. He was placed on ECMO life support for seven days at the Lurie Children\u2019s Hospital in Chicago. \u201cWe thought we would lose him,\u201d Katie reflected. \u201cIt was a miracle that he pulled through that.\u201d<\/p>\n
Drew stayed at the Lurie Children\u2019s Hospital for three long months. He was placed on a Nasogastric Tube (NG-Tube) for feeding, to prevent issues from arising from his underdeveloped lymphatic system. The medical staff quickly realized how sensitive and fragile a child could be with Noonan syndrome, and operated with the utmost patience and caution. While Drew\u2019s time in the hospital was difficult, it also provided the family with an invaluable source of information about Noonan Syndrome, and how it specifically affected Drew. \u201cWe are so grateful for the doctors and technicians that helped our son. This experience might even pave the way for other children with severe complications from Noonan Disorder at this hospital.\u201d<\/p>\n
However, Drew\u2019s hospital stay only marked the beginning of his family\u2019s education about Noonan Syndrome. It is challenging to find help and information about this rare syndrome, because as Katie said, \u201cmost doctors just don\u2019t know.\u201d To get her son the most expert medical care, Katie sought out the Noonan Syndrome Foundation (NSF). \u201cI just met Dr. Noonan herself last July,\u201d said Katie. Every two years, the Noonan Syndrome Foundation (NSF) hosts a conference; this year, it will take place in Clearwater, FL. \u201cI got to sit down with a group of doctors who are well versed on Noonan, with Drew\u2019s medical chart. It\u2019s been an invaluable help.\u201d<\/p>\n
Along with the NSF\u2019s expert medical panel, and Drew\u2019s knowledgeable pediatrician, Katie found a wealth of information from other parents of children with Noonan syndrome. \u201cI\u2019ve learned so much; for example, a parent told me they\u2019d started their baby with Noonan Syndrome on growth hormone already,\u201d Katie said. \u201cI had no idea you could start that so early.\u201d Sure enough, after a visit to the endocrinologist, Drew started the treatment as well. \u201cHe\u2019s been on it for two months, and has already grown two inches,\u201d Katie exclaimed. \u201cIt\u2019s truly amazing.\u201d<\/p>\n
Katie\u2019s desire to spread knowledge about Noonan Syndrome led her to join the Board of Directors at the Noonan Syndrome Foundation. \u201cIt\u2019s nice to know there are people out there, going through exactly what you\u2019re going through,\u201d said Katie. The Noonan Syndrome Foundation aims to foster support groups, but also to raise awareness; Katie is similarly passionate. \u201cParents don\u2019t want to find anything wrong with their child\u2026 they want them to be perfect. But sometimes, that doesn\u2019t work out.\u201d With earlier diagnosis of Noonan Syndrome in children, and a wider knowledge base among the medical community, necessary precautions can be taken, appropriate treatments can be administered, and lives can be saved.<\/p>\n
Now, Drew is a happy and healthy two year old. He is still on a feeding tube, and has eight specialty doctors alongside therapy, but his life is becoming less encumbered by medical emergency. \u201cA while back, one family told us that things get easier,\u201d Katie said. \u201cI\u2019m finally starting to understand; some months are harder, but we\u2019re finally coming towards normalcy.\u201d<\/p>\n
To learn more about Noonan Syndrome, please visit The Noonan Syndrome Foundation, or NORD’s full report of Noonan Syndrome<\/a>. For a Noonan Syndrome online support group, please visit the organization’s Facebook page<\/a>.<\/p>\n ———<\/p>\n Samantha Scheer is an intern in NORD’s Quincy office<\/p>\n","protected":false},"excerpt":{"rendered":" Katie Thortenson of Chicago is a proud mother of two healthy sons: her eldest, Jake, is 6, and her youngest, Drew, is 2, but often mistaken to be younger. When … <\/p>\n