Tuesday, November 07, 2006

When life throws you a curve

Friday afternoon November 3, 2006 we had an appointment with a pediatric dermatological specialist. Our pediatrician had some concerns about Nate's progress at his one year appointment. The specialist instantly diagnosed Nate with a rare genetic disorder known as Ectodermal Dysplasia. She was able to so quickly diagnose him because the disorder carries with it some specific external characteristics. Ectodermal dysplasia refers to defects in the development of the ectoderm, which is the layer of cells in the embryo that develops into skin, hair, teeth, nails and secretory glands (tear glands, salivary glands, and mucous glands in the throat, larynx, respiratory system and intestinal tract).

Nate's fuzzy hair may never get any thicker than it is now. His toothless smile will most likely stay that way for awhile and when or if his teeth come in they will most likely be sparse and shaped differently. There is a great degree of variance in the disorder. We have reason to believe that Nate has a milder case. He does in fact have tear ducts as witnessed just about anytime we try and strap him into anything. (He hates to be contained.) He most likely has no sweat glands and that can be a serious problem resulting in fevers and overheating. We are learning what we can on our own and have appointments with specialists and geneticists to try and learn what we can about Nate's specific symptoms.

What isn't impacted by the disorder is Nate's personality and life expectancy. It is not a disease. It will not progressively get worse or become unpredictible. The disorder is part of his DNA and is what it is. We were devastated by the news and are thankful for caring family and friends and know that they will come through for us when we need them. We are slowly becoming accustomed to the changes that this news will mean for us. Nate is full of life and full of energy and we cannot predict at this early stage what kind of person he'll become, but we can guess that he'll be very special and loved by all.

Life threw us a curve. It was high and inside and brushed us back from the plate. It's time for us to get up off the ground and hit the next one out of the park.

2 comments:

Liz M. said...

I love Nate! (I can't believe I started to laugh at the end of this post, but that's what a great Nate picture does).

Jodi said...

I work for the National Foundation for Ectodermal Dysplasias, located just 20 minutes from St. Louis in Macoutah, Illinois. I ran across your wonderful photo of Nate and your blog. If you have not yet contacted us please do so. We have lots of information to help you. www.nfed.org 618-566-2020 We look forward to hearing from you! -- Jodi