Monday, September 27, 2010

Genetic Testing Results

Everyday I remember how grateful I am to have this little man in my life, in our life, as a son, a brother and a student. I get to teach him everything I know and love him with my whole heart! I get to comfort him, hold him, hug him, kiss him, and let him know Mom and Dad will protect him and only do things that will be good for him as he grows older.

Connor has gone through many doctor's appointments, exams, physicals, a lot for a two year old and he continues to be brave and is beginning to really love a few of his doctors. 

On Friday, Dr. Byrd left a message stating Connor's genetic testing was in, but we were unable to speak with her until this morning. Connor's collagen testing came back negative. This means there was no mutation found in his gene, therefore they will NOT diagnose him with Stickler's Syndrome. This test has a 73% chance for being correct and Connor could fall into the 27% of having Stickler's Syndrome, but have negative test results. Connor's eyes are so severe and very striking to all the doctor's that they want to treat him like a Stickler's Syndrome patient. Dr. Byrd mentioned that the severity of Connor's eyes are so abnormal, that it makes more sense for a disease (Stickler's) to be attacking his eye sight. Connor is going to be treated as a Stickler's patient for now. He is going to be watched closely by his eye doctor's and have full physicals more regularly. 

What does this mean for us? Well, we have been wanting answers since we first found out about Connor's eyes at 6 weeks. 2 years and 4 months later, we still want answers...if we will ever have answers, we do not know. We are happy Connor was not diagnosed with a disease. Thankful he will be monitored by a team of doctor's that we have much appreciation for. 

He is an awesome, happy, loving, fun, a normal two year old terror at moments and we are so thankful for him. Mike and I decided when I was pregnant with Connor we would raise the child God gave us, no matter what the health problems would be. We got the child God gave us and we are so blessed!!! Everyone has hardships, this journey together as a family has been hard, but life is full when you are surrounded by amazing friends and family who support you emotionally, physically, spiritually and financially each step of the way. 



4 comments:

Mai said...

I love that you have such a positive attitide about Connor's health problems. What a lucky boy he is to have you as his mother.

Hazelbug said...

Give him a big kiss! We miss you guys.

Langleys Mom said...

Great to hear Connor's update and your amazing attitude! So glad you got some clarity and have so much support. Miss you!

Jillian said...

Love you!!! You are such an amazing mom.