Thursday, January 21, 2010

Genetic Testing & CHD Awareness Week!

Yesterday I took Trista to the Genetic Doctors at Childrens. This referral was ordered by her Cardiologist to see if there is an overall umbrella diagnosis that can put all of the pieces of her medical issues together.

They asked LOTS of medical geneology questions about everyone in my family and Scott's family. Really nothing abnormal on either side. Then the doctor came in to observe Trista and WOW - she did not like him! She's starting to have a real fear of doctors and gets EXTREMELY upset when they come near her. She doesn't trust them at all...can't say I blame her, though, after all that she has been through.

After looking at Trista, he talked to me about the possibility of Trista having what's called "Noonan Syndrome". He ordered some bloodwork to send to a specialized lab in Boston to see if she does, indeed, have this syndrome. Apparently, many of her medical issues are common in this syndrome:

1. Heart Defect
2. Ptosis (aka droopy eyelids)
3. Chest abnormality
4. Poor weight gain and short stature
5. Bilateral hearing loss

Trista had enough of the common characteristics for the doctor to order the bloodwork. So, down to the lab we went and boy...IT WAS NOT A GOOD EXPERIENCE! Let's just say that Miss Trista throws up when she is upset and she was VERY upset! It was a very stinky ride home in the car to say the least! We should have the results back in about a month.


On another note, February 7-14th is CHD Awareness Week! I stumbled across a family who has started an Etsy shop to sell CHD Awareness jewelry. Their daughter also has Tetralogy of Fallot and they are selling the jewelry to help spread CHD awareness. Check out their products here.

Here's some of their products:

Order yours today and help us spread Congenital Heart Defect Awareness!!!


  1. Genetic testing is no fun at all, but it may help her and other little ones in the least that is what I tell myself.

    I love the jewelery...thank you for sharing the site. I am definitely going to order some stuff!

  2. I saw this on etsy already, I am SO going to order one! So awesome! I am so happy Trista is doing well with her hearing aids. I hope you get some answers with the genetic testing. Have a great weekend!

  3. oooooh I love that jewelry!!! Do you know that in ALL of our journey with Kyleigh we have never had any genetic testing done past the amnio...? Wild right!? We have to be back at CCHMC on February 5th for urology stuff.. fun... (not really but we can hope right?)

  4. I will be anxious to see the results of the genetic testing. I agree, this genetic stuff is crazy and not really fun at all. :( After all our babies have been through ... Heart Hugs!!!