Wednesday, November 2, 2011

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.


  1. My prayers have been non stop for you and Neil and sweet Will, as well as for the rest of the family. I can't even to begin to imagine what everyone is feeling. I'm praying hard for my brother, sister n law and sweet nephews as the next few weeks unfold. I'm praying for your mom's recovery and healing too. And I sincerely hope all of you get a break from the shit buffet very soon! Love and hugs to all of you.

  2. no words seem adequate right now. big hugs to all of you. so. unfair.

  3. Geez Louise. I don't know what to say except that I HEART you and will be thinking about you guys and will continue to say prayers for you and your family. Let me know if there is anything I can do or anything you need.

    Hugs, Lindsey

  4. My mom filled me in this week. Gosh who would have thought, huh? My heart breaks for yall and I anxiously await Oma's results! The one thing that gives me any sense of piece if we all are affected is that we're all Christians, we can trust in him and know we'll be healthy in eternity, our time here is only temporary! Still heartbreaking though and a lot to swallow! I hate that this is happening to all of you too! I love you all and pray daily for each of you! I'm hoping we can all get together during the holidays!!! Love you!

  5. When I die, I have a few "why's" I hope to ask God and your story is one of them.
    Trisha Edwards

  6. Prayers going up for you and your family! NOTHING is worse than waiting for test results! -Bree

  7. Praying for you all Lori. That is so much information to have to take in, I'm so sorry.

  8. Bless y'all. There are no words. y'all so, so much.


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  10. Lori. It has taken me a whole week to get back online and caught up with your blog, so I am just seeing this now. Don't know what to say except that I will be praying for you and your family. I HATE it too. Life isn't fair sometimes. Let me know if there is anything I can do.
    Love, Katie