4-24-2013 The Diagnosis

Dr. Ballard took test about a month ago. One of them was a chromosome test (genetic testing). Today Xander had a follow up appointment and we were given a name for what he has. Xander has Ehlers-Danlos Syndrome. We are already on the type of diet he needs to be on (low sugar small amounts of red meat). I was excited and saddened to get the results. Excited because we now have a name and whys and sad because I wanted him to be 100%. As Dr. Ballard gave me the information my mind was blank. After the meeting I got us to the car and fell into the drivers seat and cried as I punched in Scott's number. I cried to him as I tried to explain what I couldn't remember. We hung up and I drove out of the parking lot to run our errands for the day. Every once in awhile a tear would escape and run down my face. As I drove I kept looking in the rear view mirror. There was my happy little boy watching the world rush by. He was the same little boy he was before the appointment. The only difference was that we had a name for what he had... I felt an immense flood of love, relief and gratitude for my little guy. We would get through this the same way we got through everything, a lot of prayer, hope, work and a Father who would do anything for us if only we obeyed. Xander and I shopped for what we needed and on the way to lunch I looked back to see him asleep. So, I got home and researched a little... I searched the internet and found this explanation: "Ehlers-Danlos syndrome is a group of disorders that affect connective tissues, which are tissues that support the skin, bones, blood vessels, and other organs. Defects in connective tissues cause the signs and symptoms of Ehlers-Danlos syndrome, which vary from mildly loose joints to life-threatening complications. In the past, there were more than 10 recognized types of Ehlers-Danlos syndrome. In 1997, researchers proposed a simpler classification that reduced the number of major types to six and gave them descriptive names: the arthrochalasia type, the classic type, the dermatosparaxis type, the hypermobility type, the kyphoscoliosis type, and the vascular type. Other forms of the condition may exist, but they have been reported only in single families or are not well characterized. Although all types of Ehlers-Danlos syndrome affect the joints and many also affect the skin, features vary by type. An unusually large range of joint movement (hypermobility) occurs with most forms of Ehlers-Danlos syndrome, particularly the hypermobility type. Infants with hypermobile joints often appear to have weak muscle tone, which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation, chronic pain, and early-onset arthritis. Dislocations involving both hips are a characteristic finding in infants with the arthrochalasia type of Ehlers-Danlos syndrome. Many people with Ehlers-Danlos syndrome have soft, velvety skin that is highly elastic (stretchy) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. People with the classic form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic shallow "cigarette paper" scars. The dermatosparaxis type of the disorder is characterized by skin that sags and wrinkles. Extra (redundant) folds of skin may be present as affected children get older. Some forms of Ehlers-Danlos syndrome, notably the vascular and kyphoscoliosis types, can involve serious and potentially life-threatening complications. Blood vessels can tear (rupture) unpredictably, causing internal bleeding, stroke, and shock. The vascular type of Ehlers-Danlos syndrome is also associated with an increased risk of organ rupture, including tearing of the intestine and rupture of the uterus (womb) during pregnancy. People with the kyphoscoliosis form of Ehlers-Danlos syndrome experience severe, progressive curvature of the spine that can interfere with breathing." (http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome) (http://www.ehlersdanlossyndrome.org/) (http://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00706) I believe he has a very slight case but only time will tell. Most people aren't diagnosed until they are adults so we have an upper-hand... We will be doing some traveling to Phoenix as that is where the geneticist are that we will need to see, but... I called my mom, cried some more, fell asleep and woke knowing that there will be days that I will cry, days I will hold my son tight in my arms, days I will want to crawl in bed and forget, but I will not be angry. I will not allow myself to be bogged down by frustration and hurt. I allowed myself the minutes for self-pity, sadness, tears, now it is time to be strong for my little man. He is the one I live for. One day he will need to cry on my shoulder. He will need me to hold him tight. He will need me to be strong. He will need to know that I love my Father and that I know that trials are given to make us stronger. We will be stronger and closer and better because of this. I will teach him by example and love that this is just a bump in the road and that together we can conquer all things. He also gained weight- he's up to 23 pounds and he grew to 32 inches. He does eat more than this pictures would suggest... He's so proud of himself. He learned how to turn the water on, plug the sink, and loves to brush his teeth now that he can control the water and has a toothbrush that vibrates. Ran errands. Xander wouldn't put down his Winnie the Pooh (it's the bear Scott gave him)... Scott's been out of town and Xander and his WP have been inseparable...