6 Months Ago Today...

Neil and I were sobbing hysterically in a doctors office. It feels like it's been a lifetime ago, but yet so harsh and raw.

Why Will? Why us? I'll never know.

Getting out of bed is still a chore most days. The dishes pile up and sometimes the house is totally wrecked - at least according to my standards. We eat because we're sad and most days I worry to put on mascara for fear of smearing it off in the car or wherever I end up crying.

But... Will is here and that makes us happy. He likes helping do the dishes too. He's an amazing angel that makes every day more real than the one before.

We love you Will forever and ever and always.

Vacation is Over

I suppose you figured out I decided to take a break from blogging. In fact, I was somewhat forced to take a break from a lot of technology as I had to get my work computer switched out over the break.

I've been on vacation from pretty much anything except our family and friends since Dec. 23. It's been amazing. I really tried to not look at email (ok, I looked, but I didn't open or respond to everything) and just be in the moment with Will and our family and friends.

That said, I have a lot of catching up to do - both at work, with our lives and with the blog.

This morning (Tuesday) we had a check up appointment with Will's mito doctor. After some confusion (not on our part) about who was supposed to be where and when, we finally got to visit with Dr. Koenig. It was brief, especially after a 3 hour wait, and really we didn't have any concerns about Will except some minor drooling which we do not need to "fix" - it was more of just a hmmm, we've noticed that it's increased.

We didn't want to go through all the painful discussions about health and the future, so we left it pretty short. By then, Will had enough anyways. I don't know a 2 year old who enjoys wearing a urine capture bag...

All in all Will has a "clean" health update at least in respect to having a fatal disease.

In other regards, we've decided that we DO NOT have a clean bill of health on our end. Neil and I both eat for comfort, and let's face it, we've needed quite a bit of comfort the past few months. So we've packed on the pounds in an unhealthy way.

So blog friends, we're going to pretend you really want to hear about our weight loss and you all can hold us accountable. Don't allow us to order bad food, graze at the office or "celebrate" with food. I've cleaned out all the bad stuff in the house and we're focusing on smaller portions, lean meat, veggies and fruit. I know we can do it, I just have to really focus.

Besides, I'm supposed to be a bridesmaid for a high school friend in March. Currently, I doubt the dress fits. I've got my work cut out for me. Just in case, does anyone have a really REALLY good seamstress? :-)

Happy New Year! I hope that 2012 brings us good health for Will, a healthy and positive pregnancy and many fruitful endeavors for Neil's company. Most importantly, I hope it brings us peace and joy as we continue to walk towards the great unknown.

Cheers to you and yours in 2012!!

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

The Ride is Rough Right Now

This is a long, complicated and emotional post so bear with me.

The short version of this post is that me, my mom and sisters are all HETEROplasmic carriers of the mutation, while Will is a HOMOplasmic. All four of us carry the mutation which means my sisters and I all could produce children with a HOMOplasmic mutation. Additionally, we're all four at a higher risk for having health problems - since Mito affects all parts of your body it could really be anything.

Here's the long post:
Will's mito mutation was passed directly and only from my egg, which means I either was the start of the mutation OR it was passed to me from my mom and possibly her mom. There are obvious implications for how this was passed, so about a month ago, my mom, sisters and I went to get our blood work done. The genetics dr. we are meeting with works closely with Dr. Koenig and we really like everyone we've met with.

Last Thursday we had an appointment to discuss the results. They went one by one and discussed each of our situations. For ease of posting, I'm going to do the same.

Lori: Not a shocker, I tested positive for the mutation as I am obviously a carrier. I am a heteroplasmic carrier which means not all of my mito are the same, which is why I don't have any symptoms. However, I will need to take proactive steps to keep viral infections low, follow specific mito anesthesia protocols and will begin seeing Dr. Koenig as a patient as well.

Julie: My middle sister and two years younger than me tested positive for the mutation. She has two boys. Carson, age 3 and Cameron, age 6 months. There have been no obvious signs that either of them are Homoplasmic carriers. On Friday, she is going to take the boys to get their blood work started. Our prayer is that by some miracle, neither of her kids are homoplasmic carriers.

Out of respect and privacy for her family, please understand that this is a scary place to be, waiting for blood results that will change your entire being. Once we know something, it will be posted her after she and her husband have had a chance to digest the results.

Lisa: My youngest sister, four years younger than me also tested positive for the mutation. She is not married and does not have children. She was told that it was their recommendation for her NOT to have children as they would be at a high risk to be homoplasmic carriers.

Diane: My mom. She tested positive for the mutation, meaning that some piece of that was passed to me. What we don't know is how it started or with who. The only reason why that matters is for my mom's sister's, their kids and their kids.

What some of you probably don't know is that in October 2008, my mom was diagnosed with Parkinson's. In speculative conversations with the genetics doctor, my mom likely has a mitochondrial disorder and the symptom's presented themselves as Parkinson's. The only thing that stays the same with mito disorders is that they all present themselves in any way you could imagine, Parkinson's, seizure, diabetes, blindness, respiratory problems, GI issues... whatever.

My grandma: My mom's mom is going to get blood work done this week as well. This will help us understand if there should be any cause for concern for my mom's sisters and their children. There is no reason for anyone to worry about this right now.

So how did this happen? Well, as we are in our mother's womb there are special repair cells that are supposed to go through your genetics / DNA chains and fix mutations like the one Will has. Since none of my other cousins, aunts etc show any sign of a homoplasmic mutation, I'm kind of assuming it did not start with my grandma.

My mom, sisters and I have our own Mito Dr. appt on Jan. 31. We'll cover the basics as a group and determine if any of us need to do further testing on ourselves. I'm really hoping this is not the case as Neil and I would really like to have a baby brother or sister for Will sooner than later.

So where does this leave us? Sad, worried, upset, freaked out, gut punched and so on. Rightfully so, I think my sisters just kind of assumed that it was just me and Will that were affected. So, the news was shocking. We have been digesting and working through it. I just hate this for them. I hate this. hate this. HATE.

I know how they both feel. I hate seeing them grasping for air and trying to funnel their thoughts and sadness. I just hate it. I hate it for myself because I relived all of it with them and then some.

Just for grins, on Halloween my mom had a surgery to repair some internal organ dropping. This is a planned procedure that really has nothing to do with anything I wrote above. There were quite a few complications leading up to the surgery, x-ray, CAT scan and echo cardiogram. All turned out ok, but jeez. It really made for quite the past few days.

So the roller coaster ride continues, I'm ready for the rush of info to take a break. This is part of why I've been MIA on the blog last week.

There are so many implications, unknowns and scary thoughts. Pardon the french here, but it's like we are in line at the sh*t buffet and they just keep taking our plates and serving up more. The buffet seems to be never ending this past week and I'm full. Haha, full of sh*t. At least I can still laugh at myself.