Monday, July 20, 2015

Proceed with Caution, but Real Hope

On Wednesday, it was announced that a possible cure for mitochondrial disease is becoming closer to reality than ever before. 

"Today we can say that a cure is on the horizon,' said Professor Shoukhrat Mitalipov of the Oregon Health and Science University, who was lead author on the study. "Over the past several years, we have been working to generate stem cells for use in combating disease. This critical first step toward treating these diseases using gene therapy will put us on the path to curing them."

Here is a great article explaining how this works and the research behind it: 

Here is the press release directly from Oregon Health and Science University:

I met one of the study coordinators at the recent UMDF symposium in Washington D.C. I don't know if I will forget this moment. We got to talking about Leigh syndrome, Will and his history. We were talking about an entirely different, but related subject called Mitochondrial Replacement Therapy (which I will post about later). 

So we're sitting at this round hotel lobby table surrounded by people and she tells me about this gene therapy research explained above. It took me a few minutes of intense questioning before I would actually allow myself to believe, to have hope, that this was real. It was all I could do to stop from having a total breakdown.

I clutched on to the paperwork and bee lined it for Will's mitochondrial doctor. I totally interrupted her conversation and told her I need to know if this is real. This lady says it's actually maybe hopefully possible to help Will, but I don't know?? I doubt I was making much sense I was so overwhelmed with emotion.

Even after Dr. Koenig said yes, this is real. They are legit. I still really couldn't figure out how would it all work? How can we be in this trial? Oddly enough, what actually calmed me down the most is the realization that they don't know how to get the stem cells into the body, and the brain will be one of the most difficult areas to reach.

I guess it took a real obstacle for me to get back into reality.

I was almost afraid to tell Neil. I'm afraid to be blogging about it. I don't know how to explain this weirdness. It's like there is true real hope, but when? but how? how long? would it actually really help? would it repair what's been damaged? would it ruin more? would it kill him? would it give him a whole new prognosis, but what does his quality of life look like? It's overwhelming.

But, for the first time I have real, honest to goodness hope that this is going to be real. Real for Will one day. He is an ideal candidate, minus the whole "how do you recreate brain cells with stem cells then get them into the brain" - that's way over my pay grade.

In other, but related news, Will had an MRI done last Thursday. We got the results today.

There is no more virus in his cerebellum!! It's all clear. That was a huge relief to hear.

However, since his last MRI in 2012 his cerebellum has gotten smaller. Meaning, there has been cell death. Meaning Leigh syndrome is ravaging his little body. Meaning we need gene therapy now.

If you look at his balance and coordination from now to three years ago it has changed. Not major, but it has. We still feel like we have been very lucky. To have such "little" damage occur with such "little" change.

We have a lot of stop gaps in place in the hopes that something like this new gene therapy treatment will come to fruition before things get worse. Your guess is as good as mine as to how long it will take for the researchers to figure this out... let's hope it's quick.

Had to arrive at 7 a.m. without any food or drinks... not a happy camper until he got some happy juice as pictured above. 

Will also had some dental work done while he was "asleep" - he is a horrible dental patient and some major items needed to be done. This was the most efficient and safe way to handle it. Apparently he has very thick gums and they ended up cutting a hole in his gum line so his teeth could push through. They have already arrived just four short days later.

Passed out cold during our drive home in super annoying traffic. What should have been a 20 minute trip was 45. I was thankful he was still groggy because it was a long trip. 

Spent the weekend hanging out with family. Will never ceases to amaze me. He was under anesthesia for about 6 hours on Thursday and woke up Friday morning ready to roll. So thankful he bounces back so easily without any major problems. His biggest complaint was not being able to use a straw to drink with for a few days. 

And then there's this little lady... She's ready to go any time, any day any where and boy will she let you know when she's ready for something else. 

*Footnote: I realize that this process and science behind this new gene therapy has a lot of moral and ethical choice making. I ask that out of respect for our feelings please find a different area to share your thoughts on that subject. Thanks. 


  1. Oh my gosh! This is amazing and so surreal to think about. We will double up our prayer and positive thoughts efforts! GO SCIENCE! :)


    p.s. Will is getting SO big and Quinn looks like she'll keep you all entertained for sure!

  2. Wow, wow, wow! Grateful for scientists, doctors, parents, and advocates like you. And, of course, for Will:)

  3. I have just moved to Mansfield Texas and my son has Mito he is going to be 5 years old. Could you please call me? 750-524-8585. I am having a hard time figuring out how to get settled with his medical stuff thank you Cathy rosilez

    1. Hi Cathy, please feel free to email me with any questions. My email is