Surviving the Odds: That would be my son, Collin. I was there when he was born. I watched him bite the doctor on his finger and thought he was a funny little baby. I adopted him two weeks later. This beautiful baby boy was meant to be with me. I was overjoyed with my new child. He was perfect in every way. That is, until he got sick at around three months old.

Collin ended up at the Children’s Hospital in Milwaukee, Wisconsin for almost three months. He went into the ER and was admitted with a common respiratory virus, but ended up on life support. The doctors did not know what was wrong with him. They told me he would not survive. I was absolutely devastated!

After taking a biopsy from his thigh and running a camera throughout his entire body, Collin was diagnosed with Ehlers Danlos syndrome, type unknown. How scary it was for us to read up on this tissue disorder. All I knew was that I had to save my baby, no matter what.

When Collin was 12 years old I received a call from a geneticist at the University of Wisconsin in Madison stating that there was a new tissue disorder that had been discovered called Loeys Dietz Syndrome. Collin was tested for this condition but the results were negative. Dr. Dietz then requested a test for arterial tortuosity syndrome and this one came back positive. Only a handful of people worldwide have this rare isease and Collin is one of them. This was another devastating day for me as a parent. We have studied up on the disease, without much information to go on, and he is now a case in the medical journals. Hopefully he will be able to help others along their own hard journey with this condition. Here is more information about arterial tortuosity syndrome.

Collin is such a strong and remarkable child to have gone through so much in his short 14 years here with us. Collin has a positive attitude, despite his rare disease and limitations that are placed on such a young boy. He has a huge heart, tons of friends and is brilliant on top of it. Along with the arterial tortuosity syndrome, Collin faces some other issues such as, Tourette syndrome, multiple vascular vessels, and reactive airway disease, just to name a few. Collin has overcome the odds and has exceeded all of the obstacles that he has been faced with, which are too many to count.

My heart only wants the best for my son and the only way to help him is with awareness of rare diseases and from any knowledge we can gain by his experiences. I will always love my child, no matter what we have to face together!

[NORD thanks Collin's mom for sharing this story.]