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. 

Friday, July 10, 2015

Grief, a 24/7 experience

*Photo credit: The Writer's Circle

I feel each of these emotions every day. Some more than others depending on what's happening. Some flash by me quickly, mostly because it's too painful to fully experience them or because I'm in public/in front of my kids and I need to mask my emotions.

Some linger on for a few hours, or they pass quickly and come back later when I least expect it.

Sometimes when they appear and I have the luxury of being alone with my thoughts I can fully explore how it feels.

I grieve for Will, for our family, for the failed attempts at having additional children, for the families effected by disease... for so so many things.

Most days, I just hope that I make it through the entire cycle quickly and that the really horrible emotions don't stick around.

This camp Will has been attending has forced me into the "main stream" world - this cycle of grief is illuminated just in the simple interactions of a day.

None of the other kids have a hired aide to push their medical stroller and help them navigate stairs. I feel the emotional outburst I would like to have when see the side eye stares of the other (fabulous) moms dropping off their kids, I feel the anger and and guilt when his aide tells me that his hand was shaking from just holding a pencil while trying to color in art. I feel the shock and numbness associated with this diagnosis when I talk to the camp director about his abilities.

I also praise the new relationships - when the music teacher allows Will to pop in his class at anytime he's feeling overwhelmed or can't physically participate in the activities or when someone asks to pray for Will. I see the hope when Will confidently "jumps" on stage TWICE to participate in the daily morning talent show. I see that he is helping others when he makes his new friends laugh.

Grief is a funny, never ending circle. You can't escape it. It will always find you and color your happiest moments. But, I have the power and courage to experience it and find a way to be okay. After all, I have so so so many things to be eternally grateful for and happy about.

Friday, July 3, 2015

Will Goes to Camp

Maybe I'm OCD or just a big planner, but I knew this summer would be the first summer I didn't have something for Will to do. I was pretty nervous. I might appear to do fun things with my kids, but I can't do that full time nor do I have the stamina and ideas for it. Plus, I work part-time, thankfully from home, and while I have a lot of flexibility I still have to work.

I also knew I couldn't just send Will off to a day camp and expect things to go smoothly. So, I found a camp that would work with us and who would let us send an aide with Will daily. This week he started art camp at a place in our neighborhood called Mad Hatters - they do year round dance and art classes, but during the summer they have a two week camp program from 9 a.m. - 2 p.m.

I have heard amazing things about the program from a friend and Will's PT's kids also have attended. She thought with the support of an aide he would be great.

Day 1 was pretty hard. While Will hasn't been diagnosed with a sensory processing disorder, he definitely has some sensory overload moments. Who doesn't? He is not a fan of chaos or loud noises. (Or stuffed animals haha).

Day 1

Day 1 - with his aid, Chantel! Who happens to be his art teacher at school.

Coming from a school with a max of 10 kids in your class and the whole school having about 140 kids, this art camp is a big change. They have about 120 kids attending and 20 kids per group. That's a lot of noise :-)

With a few modifications for Day 2, including some noise cancelling headphones Will was having a blast. So much so that he signed up for the daily talent show. He decided to tell knock knock jokes. With a little help from Chantel I think he did an amazing job.

Thursday, July 2, 2015

Summer fun!

Wow, it's been almost a month since I last updated - we have been having too much fun in the day for me to stay up late and attempt to blog at night.

Health wise - Will is still recovering from that stupid virus in his cerebellum. I would guess we're close, but not quite back to baseline. It's really the stamina piece that's going to be the longest one to achieve.

I am thankful that he's now back to being able to regulate his emotions and not be as angry. Probably helps that he's using his words better too. Time outs have been significantly reduced.

During this past month he has seen immunology, neurology and palliative care doctors; as well as weekly PT, OT and Speech therapists. All are happy with his progress. He will have an MRI and dental work done under anesthesia on July 16. This was actually pre-planned before the brain bug; we are definitely curious to see how his brain looks after all this.

In PT, he made some major progress. He can do a full sit up now with someone just holding his legs. We attribute this new trick to swim lessons and playing Zelda on the Wii. What's that you say? Playing a video game made his core stronger? That's right. He stands playing as the Swordsman and has to slay all these animals coming at you on the screen. It's actually a pretty intense core workout for a kid who has little core muscles.

Speech we are working on "rapid swallowing" - he seems to get choked up when he gulps or drinks without a straw. But from a language and articulation standpoint he's probably back to baseline.

So what have we been up to this past month???

Cousin time!

First time on the boat - she was not happy at first, then by the end was wanted to climb over the side.

Our crazy driver - he loved it!

Kindergarten graduate! 

When he went up to receive his diploma he puffed his chest out and stood tall. It was hilarious to watch his whole body change demeanor when he was called up. It was like, "that's right people, I did this and I'm pretty proud of myself" -- We are so proud of everything Will has achieved. It's an incredible gift to see him do all the "normal" kid things - like going to school and learning how to count and read. 

A little stress reliever for us! An adult long weekend escape to Austin! We ate, we slept and we lounged pool side. You could see the famous "Austin Bat Bridge" from our hotel room; we watched for the bats every night and they never came out. Instead we saw a wreck on the bridge, might have been more entertaining than the bats. Everyone was okay. 

Will's reaction to being at the med center for six hours. Did his blood draws like a champ though!

Will always wants to stop and see the "big guys" and so I finally figured, why not!? He was thrilled.

Cousin time - Carson and Will love wearing all their "gear" - lanyards, walkie talkies and ID badges to name a few. 

Rocking out with Carson

First swim of the season with the diva. She loves water play at school too. She will stand in the baby pool, lean over and put her entire face in the water and stand up smiling. She also likes the hose; she followed her teacher around who had the hose, and kept pointing at her head to be sprayed. 

She can barely stand with that life jacket on LOL

Swim lessons! At first Will wasn't a fan, but by the end he did great. We were focusing on not freaking out if your head goes under, how to hold your breath and kicking. 

He got his entire head and face under water by the end! 

Train rides

Helping me pack for the UMDF conference! More on that later... 

Lost his two front teeth; he looks like he just has little vampire fangs now. 
And had a sleep over with aunt Lisa while I was out of town. 

I have to admit, I have been pretty nervous about summer time and keeping Will occupied... So far I'm thankful to say he has been having some good fun with more to come.