Wednesday, December 21, 2011

My Nephews

As you might have seen in a previous post, my mom, sisters and I were all diagnosed with heteroplasmic mito with the Leigh's mutation. This simply means that not all our mito carry the mutation, but some do. There's no way to know exactly how much because of the way mito is found in our whole body. Will is a homoplasmic carrier, meaning all his mito carry the mutation.

Since Julie was a hereroplasmic carrier, that means she could have passed down either hetero or homo plasmic mito... and both her kids needed to be tested.

After what seemed like a REALLY long time, which in reality it was nearly 8 weeks, the blood work results came back last Friday and both my nephews are heteroplasmic carriers. We are overjoyed! This is awesome news for my sister and her family and I couldn't be happier for them. Of course there is a huge part of me that feels like, jeez universe, what did we do that was so wrong/bad you gave us this terrible end of the stick?

In all honestly, I got really emotional and just felt like I relieved Will's whole diagnosis over again. It was weird. I guess I didn't realize I much I was worried about it for my sister. I just fell apart. I thought I wasn't going to be able to pull myself up as quickly as I needed / wanted to, but luckily I had a "girlfriend" dinner that night and it was just what I needed.

The rest of the weekend was great. Neil and I went to dinner with some friends on Saturday night and had not only good food, but great company. I finished all my Christmas shopping and of course, Will wanted to help wrap everything. Which he did :-)

The three amigos before the school sing-a-long


  1. Those three amigos are precious! We (Carson and Cameron's grandparents) cried the rest of the evening for you! Hugs and prayers continue for you, Neil, and Will.

  2. I'm so glad to hear that they came back hetero!! That was scary and did take FOREVER!! No word on Oma yet, right? I can't wait to see all of you at the walk in Feb! Love you!!!!

  3. What a relief, but I imagine its a rollercoaster of emotions for all. Hoping this means the sh*t buffet is over and good news continues. You are in my thoughts more than you know.

  4. That's great news! I was wondering about the results of the testing...although I know how long those things can take! What a great early Christmas present for you all!

  5. It's a huge relief and a great way to end the year.

    Nothing back on my grandmother, Ohma, yet. I'm guessing it will be sometime in January.


  6. Really happy to hear that-it has to be a huge relief. I'm jealous of the fact Will gets to hang out with his cousins so often-that's so cool.