Tuesday, August 9, 2011

Mito Follow Up Appointment

So, a month ago my heart was ripped out of my chest, shredded, stomped on, shredded again and then shoved back up in me. During the past few weeks I have been trying to mend a very broken heart. Success comes and goes, but overall, doing ok. Neil is about the same though probably wouldn't use some of my descriptors :-)

During the appointment when Dr. Koenig (Mito specialist) told us Will had Leigh's Syndrome, our bodies kind of took over and there really wasn't any thought process for questions or next steps, other than get Will started on CoQ10 and Levocarnatine - supplements, no cure.

So, today, we had a follow up appointment where we could ask all the questions we've been dwelling on for the past few weeks. I have probably had an unhealthy obsession with understanding how he will, one day, die. Ew. Just seeing it on the screen makes my stomach turn.

The appointment was very productive and we cleared up a lot of details about the disease. I apologize in advance for the long posting, but this is much easier than 50 phone calls!

I also apologize, I'm going to back track for a minute so you understand how we've gotten here. We've gone through a series of tests during the past year, both physical and blood to this diagnosis. The MRI results (abnormal lesions on the brain) and subsequent genetic blood testing resulting in a 100% certain diagnosis of Leigh's. Here's what we know.  

-People are born with good mito and bad mito. It's something that we all have and is passed to us from our parents. Will's mito level is 132 percent. That's actually quite normal, some people have more or less. Of all his mito,Will has 98 percent bad mito. So we're counting on the other 2 percent to overcome the bad ones for as long as they can.

-Will's specific disease is the mtDNA Leigh's Syndrome. Which means, the egg that created Will had too many bad mito in it and had a genetic mutation. Obviously, this is a hard pill to swallow - my egg was bad and as a result, Will is never going to experience life as we wanted. As our (mental health) therapist told me, I am a victim, just like Will. There was absolutely NO WAY to have predicted or stopped this from happening. Victim. Any other biological children I produce with my eggs are highly likely to have a mito disorder. That's an entire other blog post :-) 

Now on to some positive news...
-Dr. Koenig is in no way shape or form someone that sugar coats anything. So when she told us that Will appears to have a mild case, I nearly cried for joy.

-Apparently, Leigh's Syndrome is one of the most well documented and studied syndromes in the Mito world. Theoretically, more research and more medical advances are targeted towards finding a suppressant or cure for Leigh's. Hence, why this Stanford EPI-743 trial was started. Will is the ideal candidate for this program. Even the way it was passed to him theoretically should help Will see a more positive impact from the drug.

-I have mentioned these abnormal spots on his brain - this is the crucial piece of how this disease works. Let me explain. Imagine an electrical wire. There is a tubing that surrounds all the various live wires inside. Leigh's Disease basically makes that tubing around the wires decompose - it's called Demyelination. Over time, the brain tissue that was being protected by the tube will die. That's called Necrosis. Eventually, the brain tissue that connects to your brain stem and spinal cord will die and so on. So, still waiting for the good part? The four abnormal spots on Will's brain show NO SIGN of death. The tissue is very much alive and we are hopeful that the Stanford EPI-743 drug trial will help keep that tissue alive and healthy. *I totally borrowed the electrical tube analogy from Dr. Koenig :-)

-As I mentioned in a previous post, demylenation seems to have a high rate of occurrence when your body is attacked by a viral infection. So, during a high fever, vomiting etc. getting Will hooked up on fluids actually can help reduce the degree of damage or eliminate it all together. Hence, the necessity of getting Will to the ER fast.

Ok, back to some bad news. I have probably had an unhealthy obsession with how this will progress and what Will may die of and how. Ew. Preface ALL of the below statements with mito affects everyone differently, so there are no absolutes with the future.

-There are two likely paths which Will might take. 1 - a slow long progression of setbacks. For example, during a period of a year, he could go from walking to not being able to roll over. Or 2 - he could wake up any day and have lost the ability to walk or talk etc. It wouldn't be a slow progression, but rather, a "on/off" difference that will be extremely noticeable. Dr. Koenig can't predict the future, but from what she sees right now, Path 2 is more likely. I like that one better. I pray for those on either path, because they both end in the same nasty way.

-Ataxia is highly likely a side effect we will see Will experience. The nut of it comes down to balance problems. Insert wheelchair.

-I asked what do most children die from, her response was respiratory failure or liver failure. He would not qualify for a liver transfer.

-When is this going to happen? No crystal ball, no prediction. She said we've got a lot going for us right now in that Will continues to make progress and that we have been proactive for the past year in getting him in therapy etc. It could be six months, six years or 16 years. You just don't know.

-She told us about the most recent patient they lost. A 12 year old girl with Leigh's who lived a happy and full life. There was nothing cognitively wrong with her, she talked, walked, ate and had friends. She was in the hospital for six weeks and before she fell asleep for the night, she said, "Bye. I love you mom" and passed away in her sleep, very peacefully. As peaceful as that can be.

So what now?
-Keep doing therapy
-Stay healthy and germ free
-We're going to do an Eco-cardiogram to check Will's heart. There's no indication there is anything wrong, but of all the things we've done testing on, this (shockingly) isn't one of them.
-Meet with a gastro-intestinal specialist to help with BMs and check his digestive systems.
-Meet with an immunologist as it relates to keeping Will healthy
-Go back in 2 months for a follow up visit with Dr. Koenig

Neil and I both agreed that we were dreading today. I didn't want to go through everything again etc. We left the doctor's office with a significantly more positive outlook. Plus, we got a lot of questions answered which help us understand what's going on.

If you have any questions about this please don't hesitate to ask, comment or email me. I am still working to understand all of it myself!

I've just sat here for five minutes trying to think of a more positive way to end this post and I really can't right now so I'll just leave you with a picture that makes me smile.


  1. I think you did a great job in summing it all up! I too would be encouraged with how Will is doing now. He certainly is a precious, happy boy!! Try to live each day as it comes. None of us know how long we have left...try not to dwell on the unforeseeable future! And if I can help you in anyway, please don't hesitate to ask!!

  2. That is definitely a picture that would make anyone smile! :) I'm glad the meeting went better than expected and I appreciate the explanations. I love you!

  3. Julie passed your blog onto me. I hope that you know our family will add yours to our prayers. I posted on Facebook the other day about it being amazing the things our kids teach us. My 3 year old was excited about the yogurt he picked out at the store and coming home to eat it. It's the small things! I can't imagine as a mother myself what you are going through but like your friend Reagan said continue to be encouraged by what he is doing now. God can do great things! God bless you and your family!

    I also can't help but think of one of my favorite songs KSBJ plays some of the words go something like: Our God is greater. Our god is stronger. God you are higher than any other. Our God is healer. Awesome in power, our God, our God!

  4. Reagan - thanks for your "mito mom" approval. It's hard to describe everything and I'm still learning. I'm glad Dr. Koenig can put it into layman terms for us.

    Colschen's family - thanks for the prayers. We need all we can get. Please add an extra one in for all those families who suffer from this disease. Every 15 minutes a child is born with a mito disorder - that's as frequent as cancer!

    Thanks to all who are reading and sharing. I started this blog for two reasons, to keep friends and family updated but also to spread awareness and understanding of why finding a cure is so important.

    Almost-birthday girl Lisa – thanks for always commenting  He’s a cutie pie!


  5. I read this entry with a lump in my throat. Before you began this Blog Lori, I had never heard of Mito. However, your clear, concise, explanations have helped me get a handle on my ignorance which in turn provides understanding and lessens my fears. I hope this too helps you and Neil, Lori. I am so inspired by your "Mamma Bear" attitude. Give Mito Heck Lori!
    And this pic. of Will is like sunshine on a cloudy day. What a smile.You see Prue Joy on Mr. Will's face. And that tells me that you and Neil are doing all the right things my dear Lori.
    Big hugs to all three of you,
    Peace and Love,
    aunt dana & uncle sandy

  6. Great summary Lori! I am so glad to hear about his MRI. If you ever have questions, I would be happy to help. Keep that fighting spirit! I love seeing all of his pictures - his great smiles and sweet face helps keep up hope.
    Love you guys!
    Veronica xoxo

  7. Lori, thank you for sharing your blog with us. It's finally great to put a face behind Will's name...and what a cute face that is! I understand exactly how you feel in all of this (even though Roman has yet to be diagnosed). It can be trying at times but it's apparent that the impenetrable and profound love that you have for Will makes you a warrior in this battle to fight for the absolute best for him. You have a beautiful son who is extremely blessed to have you as his mother! Keep your faith strong and hang in there. You are doing an awesome job!!! :-)

    Nadia Marzuke

  8. Bless him. He has such a beautiful smile. Thanks for sharing all of info. You're an amazing momma to an amazing little boy.