Here is the letter Karen and I received from my sister on February 17, 2010 to let us know our nephew Emlen was diagnosed with cystic fibrosis (CF). My sister and I live on opposite coasts. I felt pretty helpless and wanted to contribute. In a few years, Karen and I decided to launch LifeLineRacing to combine our passion for exercise with our goal of raising awareness to benefit Emlen and other children with CF.
"Family and Friends.
As many of you know both Henry and Emlen have been struggling with viral induced asthma for the last year and a half. This summer we finally found a fantastic pulmonologist and several other doctors at Children's Hospital Boston that have been helping us get a handle on why this has been happening.
Henry is now healthy. We discovered that Henry has a mild case of acid reflux. While mild acid reflux is harmless and common in most people, it can wreak havoc with people who suffer from asthma; whether the asthma is viral induced or otherwise. In simplest terms the asthma medications cannot keep up with the lung inflammation being caused by the virus and the stomach acid. This fall Henry began taking an antacid. That, along with a summer free of colds, cured him. (We just got through a major bronchial virus without one wheeze, YAY!) Henry still has a bit of catching up to do physically after struggling for a year, but he is making great strides. This week he started iceskating. Happy and Healthy.
Emlen, while holding steady last year, has recently been struggling a bit more as the standard asthma treatments have not been helping as much as they should. He has also been fighting one ear infection after another. And his growth has stalled - despite of the ridiculous amount of food that he eats. Our pulmonologist has been seeing him often and finally put him on a daily low dosage of antibiotics and upped his steroids. She also requested several more - hundreds as far as I could tell - blood tests to try to discover a root cause. But she also believed that if we got through this winter and Emlen had a cold free summer he would outgrow all his symptoms.
However this has turned out to not be the case. One of blood tests turned up a genetic abnormality. We spent most of yesterday in Boston having more confirmation tests done - all were positive. Emlen has cystic fibrosis (CF). It is a recessive genetic disorder, which only manifests when a person has two defective genes - one inherited from each parent.
We are fortunate in that we live 40 minutes away from one of the top CF clinics in the country and certainly the top CF clinic in New England. Emlen now has a CF Team consisting of nurses, doctors, nutritionists, a social worker and a physical therapist. All are committed to making him healthy so he can lead a long and full life, because in the last two years - especially the last six months - he has not been healthy. The Team is confident that we will see a marked change in the next few months. Emlen will start growing - maybe even catch up to his uber tall brother, ha! - his constant cough will vanish along with a myriad of other symptoms that he has had since birth. Again we should see a marked change.
We know that this is a lot to take in all at once. We too are processing all the information and how it is going to impact our lives. If you have any general questions please refer to the web sites listed below:
At this moment in time, while we would normally welcome all of your sympathy and heartfelt discussions, Christian and I would greatly prefer the distraction of laughter and fun to keep things light. We are a little emotional and a little too easily moved to tears. Anything to take our minds off of stuff would be very very helpful.
Elizabeth and Christian"