Friday, May 23, 2008

Big Sigh of Relief and a Return of Hope

So today I was sitting at my desk at work, head in the clouds, getting increasingly frustrated that we still haven't gotten the genetic results yet. I emailed Dr. V. again yesterday and she said she still hadn't received anything and would call the lab, but I hadn't heard from her yet today. So I emailed Jason at work, telling him how frustrated I am and how I wish I had the lab report in front of me so I could call them myself. Then it hit me...I may not have the lab report but I do have internet! So I googled Gene Dx Lab in Maryland and sure enough, their website popped up with their phone number.

I called and spoke to a receptionist, who looked in the computer and said that the results were still with the "report writing" department and to have my geneticist call Dr. R. for further information. Not satisfied with that answer I asked to be transferred to Dr. R. right away. The receptionist said "sure, but I doubt he could tell you anything you'd actually understand". I let that comment slide :)

Dr. R. answered the phone right away and I explained who I was and why I was calling. Within minutes he had the results for me. Are you ready????


This is the best possible news we could have received, and we didn't expect it at all. The reason it is such great news is that it tells us that this deletion has already been passed down from a mother to a child (my Mom to me) with no ill-effects. Therefore, Joey DOES NOT have Angelman Syndrome! The deletion means absolutely nothing, it's just an incidental finding in our bloodline not related at all to Joey's issues. So this means Jason and I can have more children!

Dr. V. has no idea that we already know this information, so we will await her phone call. I'm sure she will likely want to see us one last time to review what these results mean, but it's already been explained to us so many times what each possible result would mean so I am pretty confident that we are now done with genetic testing. Perhaps in another 5 years there will be advancements in genetic science that will allow for even more deatiled testing, but for now we are DONE.

I will post more once we've spoken to Dr. V. but for now I hope everyone has as great a weekend as our family will :)

- P, J & J


Dandelionmom said...

Oh P, that is wonderful news! (Glad you can ignore the condescending receptionist!)

Anonymous said...


Anonymous said...

Pam and Jason:

Lori and I are thrilled to hear this. I look forward to the "official" update from your doctor confirming this.

Great news!


Anonymous said...

This is AWESOME news! You guys must be elated! What a huge relief. So will they move away from genetic testing to something else to determine Joey's diagnosis, or are you just leaving everything alone now? The possibility of future kids is pretty exciting!!

J said...

That is great news, so happy for everyone!