Thursday, September 29, 2011


Many of you probably saw the "Positive Polly" post...We left our IVF meeting last week with a lot of questions and they were mostly answered during this mornings THREE HOUR genetics meeting (more on that later) but I'm too excited not to share... We get to have our OWN babies! Assuming I can produce some good eggs and all. That means no egg donor, no adoption just Will's own little biological brother or sister who won't suffer the way Will is.

Lot's of mixed emotions on the whole subject, but overall, just extremely happy. Something seems to be working in our favor.

I will update this post later, but just too excited not to share.

So here's the update and more lengthy detail. I'm going to pretend that I have a major in Biology and Genetics and have a clue as to how Mito happens.

We met with a Genetics Specialist today that is very familiar with Mitochondria disorders. Will's Mito dr. recommended her and we were REALLY happy with her. My mom, two younger sisters and my mother-in-law came as did Will. We spent the first hour or two gathering medical history and discussing our family tree. My 15 page medical history of Will came in handy numerous times. haha. The first dr. asked me if I was type A. I said, of course. He quickly realized everyone in the room including my mother-in-law are type A.

After the "intake" portion of the appointment, we met with another dr. who along with two other dr.s answered all our questions and helped explain the disease from a genetic aspect. After that we headed to the lab for blood work. Nearly three and a half hours later we all emerged hungry and happy.

First, biology...
-Each cell has a nucleus which contains our genetic make up the traditional X and Y chromosomes. With in the each cell, but NOT inside the nucleus, there are Mitochondria. Within each Mitochondria, there are five complexes. I've begun to think of the Mito complexes as five little stations on an assembly line. Each complex has a unique responsibility and the last complex that is supposed to make the "widget" turn into the final product doesn't work for Will.

In general, there are two manifestations of Mito diseases. One is an X and Y linked that occurs in the nucleus. Then, there is an X only manifestation that occurs in the Mitochondria OUTSIDE of the nucleus, but still housed within each cell. The latter is what Will has, he has nearly 100 percent bad mito. He received too much bad Mito in the mitochondria surrounding the nucleus of the cell.

Now, Genetics...
For generations prior to me, my mom, grandma, great-grandma and so on have all passed down this X linked mutation. Now you say, gosh, someone else should have this in your family, but NO one does! This is just that rare, I guess. I don't think we'll ever really understand that. Additionally, this can affect girls or boys equally. Just because it's X chromosome delivered doesn't mean a girl or boy are at a higher risk. Remember, this isn't the X & Y in the nucleus, it's the Mito surrounding the nucleus which isn't X & Y linked, only X. 

So, in theory, both my sisters could be a carrier of Leigh's and their children may or may not be affected. At this point, only one sister has kids and they both seem fine. My other sister doesn't have kids on the horizon. So, that's good.

So, my sisters, mom and I all got our blood work done today to test for two things (I think this is it at least):
-How much bad mito is in our blood?
-Are either Julie or Lisa carriers of Leigh's Disease.

We should get the results back in the next 3 or 4 weeks. Once we have that appointment I will do a follow up posting with my families permission on what all this really means and the results. It's still somewhat vague, but at least we got a next step started today.

Side bar for my maternal  relatives who read this blog... once we have a better understanding of what to test for and next steps after we get our results, I will send you all a private email with details. It may be prudent to have testing done on my mom's sisters to see if they were carriers and might have passed this X linked mutation to you as well. It's unlikely since all your children seem fine, but just in case. I can only guess it's a question you all have thought of.

Why we can do IVF with my eggs...
The dr. confirmed that the ONLY Mito mutation I carry or could pass on is Leigh's disease. By designing a test probe for that and eliminating it in the embryo, then our chances of having a child with any sort of disease are back to the normal population.

Meaning, once we eliminate the mutation from the embryo, we're just like the rest of America, hoping for a healthy child. We're not a big fan of stats over here, so we'll just cross that bridge when we get there.

Since Neil and I are not interested in getting pregnant anytime soon, it's nice that we have plenty of time to sort all this out, work to design the test probe for Leigh's and decide if and when we'll do this whole IVF thing.

Regardless, today was a happy day for me. There have been a lot of small and really positive wins for us in mito world, but this feels more like a normal win. I don't know how to describe it really. It's like for so long we've been "comparing" our lives to normal people and we're just not normal anymore. So then you start comparing yourself to the Mito world and you feel like we've had some positive wins - mild case, Stanford drug study, high functioning little guy right now, continues to make progress etc. The fact that we'll be able to scientifically produce a hopefully normal and healthy child is shocking and makes me feel "normal" and of course guilty.

I'm not letting myself go to the negative, slippery slope today. I'm enjoying for what it's worth and all the emotional, moral, ethical, painful choices that lie ahead of us are simply on a shelf. They can stay put for a while.

I hope my sister Julie doesn't mind me sharing this story... today Will was a perfect angel in the dr. office. He really did an awesome job. That was in part because he was playing with her breast pump for nearly 20 minutes. He sat up on the table and put on her privacy drape thing, then hooked up all the tubes and bottles and wanted to put the bottles up under the privacy drape and pretend like he was pumping. Now many of you may say, WHAT??? But believe me, when you cram five adults, 1 toddler and three doctors into a room that's no bigger than an average bathroom you just go with it.

If nothing else, they won't forget us there. Will is quite the charmer, even with the breast pump.


  1. I am SO happy to hear this, Lori. What wonderful news. Will is going to be the BEST big brother and your next bundle (whenever he/she arrives) will be lucky to have you as parents :-)

  2. Wonderful tears of joy!

  3. That's great news!!! I have heard about this before but didn't know anyone that has actually done it!
    Reagan had an appt with Dr. S-S today and I mentioned to her that I had met you. She's a great doctor and one of the few that really listened to our concerns about what was going on with Reagan and then came up with a course of action that (knock on wood) we're finally seeing improvement with!

  4. Thanks for all the lovely comments! We are really excited. Its not happening anytime soon, but it's really more than amazing to know it's possible.

    Dr. SS is awesome! She was actually the first person to mention mito and was very helpful and supportive on the situation. I'm so happy that you guys are seeing improvement. That's huge. Cheers on the great trip too. I'm glad that you had many happy days while you guys were there.


  5. Yeah!!! Congratulations!

  6. Wow! Fantastic news. And Will with the breast pump cracked me up. Love it! Vincent gave all his baby dolls "mamoos." One side effect of nursing into the second year (Vincent weaned a little after age 2), was that he fully remembers "getting mamoo." One of our friends was over one night with a low cut top on and Vincent went up to her and stroked her arm and said, "I like your mamoos." Ay yi yi. She was so embarrassed. HAHAHA. He's always been a guy's guy even at age 2, so I guess I shouldn't be surprised. What a hot mess.

    Anyhow, I'm thinking of you all the time. Thank you so much for all the great explanations. Having just got my first smartphone yesterday, the widget analogy helped ;) Big hugs to your adorable little peanut.