Received the letter

It’s not the first letter I’ve received from the geneticist but the hardest. The first one came a few months ago and it contained my test results; positive. I wasn’t surprised because we had discussed the results over the phone so I knew it was coming. And honestly, with everything else going on with my health this was just another word on the diagnosis list, *insert eye-roll*. Heck I’m already taking 29 pills a day and giving myself 8 shots a month so this didn’t phase me.

But that was for MY letter and this… this is not my letter. When she handed me the mail she wasn’t as passive as normal. The thick envelope seemed to intrigue her and she demanded I open it immediately. I did, even though I knew what was inside, just to appease her curiosity. Of course I played it off like the various letters were usual test results, bills and such and she grew bored and ran back to her room.

With this batch of letters I had also received a call prior but this time I felt I had to read the results for myself. The first one belong to the girl, my little tornado who was oh so curious when she retrieved the mail; negative. I knew she would be as I just didn’t see the same familiar signs. Then came the second letter. I took a deep breath, blinked the tears out of my eyes and proceeded to read; positive. The wave of emotions that I had fought with all week came flooding back. My son, like me, was also positive for the TGFB2 gene and there was nothing I could do to change it. I continued to sort through the other forms and found orders for an echocardiogram, retina specialist and the cervical spine x-ray. These are the first of several he will need as we start this new journey. I’ve already set-up an appointment with a cardiologist at John Hopkins Children’s. Monday I will contact his pediatrician and figure out what other specialists will become a permanent fixture in his life.

Now to figure out how to tell my son that he too has Loeys-Dietz Syndrome…