Today (Wed.) we had our intake meeting with the dr. at Stanford who is conducting the EPI-743 trial. Dr. Enns seems to be a very knowledgeable and friendly doctor. He spent nearly two hours with us going over mito disorders, Leigh's and complex 5.
Will is patient number 21 to be admitted to the trial. He is the only one with this particular mutation so I suppose you could say this will make it all very interesting - both for the dr. and for us. We were told he is likely the healthiest patient in the program. It sounds like many of the others have g-tubes, seizures, non-verbal, non-mobile. So, I do consider ourselves extremely blessed and lucky to have a mild form of this wretched disease.
It's a 13 week trial, this week we're doing baseline testing, then we'll get the drug on Friday. During the next few weeks we'll have to go to Will's mito dr. and have "safety labs" done, which means they make sure his body is still functioning ok while on the drug. Then, on week 13 we return to Stanford we run all the same tests again to see how his body is responding. It usually takes at least 6 weeks to really see any differences, if you're going to see them at all.
Lesson #1: Mito transfers aka the waterfall
In each of our cells there is mitochondria and in each mitochondria there are five different complexes that an electron must flow through and through each complex hydrogen is created that is used to create energy. At complex 5 the hydrogen passes through a tunnel and with the help of an enzyme creates ATP which is the fuel for our body's energy. Will's issue is in complex 5, whereas other mito disorders can involve roadblocks upstream. Dr. Enns noted that complex 5 is obviously working or Will wouldn't be here, it's just not working at capacity and it is our hope EPI 743 can enhance complex 5's abilities.
Lesson #2: How EPI-743 works, in theory
The drug should hopefully help push electrons through Will's electron transport chain and give Will more energy (i.e. give his engine more horsepower). Dr. Enn's likened it to a car's engine that is totally fine cruising down the highway at 45 mph, however, it starts to smoke, clunk and shut down when you floor it and try to get it up to 70 mph.
Lesson #3: How will you know if it's working?
Tomorrow, we are going to have something called a brain spec done. I originally thought it was going to be an MRI, but I was wrong (gasp!). A special radioactive dye will be put into his IV and travel through the body. It's totally harmless. Then, they will do a brain scan to see how the dye travels and at what pace. Since Mito disorders are a metabolic neurological disorder, theoretically you can see how slow/quickly his mito processes the dye. Usually, at the baseline brain scan the picture is a very "dim" color. At the end of the trial, on week 13, the brain scan usually looks brighter - if the drug is working.
Ok, now time for Q&A class!
Q: Tell me about the drug.
A: It's an oral dosage and it's suspended in sesame seed oil. Tastes kind of like fish oil. It must be kept cold and can't be exposed to light (it's packaged in an amber bag). He'll start with one dose per day and then work his way up to two and then three. She's sending us home with a cooler with a 7 week supply of the meds. We'll get another one delivered to Dr. Koenig's office on week 7. I don't know the dosage yet. We will stop the CoQ10 and any Vitamin K, but the other meds he can stay on.
Q: Are there any side effects.
A: None that they have seen related to the drug. Two of the patients in the program have passed away, but they don't believe it was related to the drug, but rather the progression of the disease.
Q: Since Will's cog seems to be the problem, do you think the drug will still work?
A: We don't know, Dr. Enns seemed cautiously optimistic.
Thursday: Brain spec, skin biopsy and blood work. Since Will is going to be under anesthesia tomorrow, he can't eat anything past 7 a.m. and then no more fluids after 10 a.m. We report to the hospital about 10:45 a.m., get checked in and they start an IV to get him heavily hydrated. They will put him under anesthesia about 1 p.m. and then we should be in recovery, I'm guessing around 2 p.m.
The skin biopsy is a very simple process and they will examine and run various tests to help them understand Will's particular biochemistry which will hopefully assist as the interpret data and consider the drugs results. Don't ask me much more about this yet. I need more answers, but when they asked us if it was ok, the explanation made sense.
Friday: We report to the hospital at 9 a.m. and we'll be doing a different set of blood work that must be done directly before the drug is administered, then one immediately after, then again a few hours after. Additionally, we'll be doing an ECHO and EKG test on his heart. Sound familiar? We just did one a week ago. Which actually really worked in our favor. We were able to apply that test to this trial. So rather than having to spend wed. afternoon doing the ECHO /EKG, we were able to play!
Saturday: We leave. I'm sure Will is going to be excited to be home. Though, he has certainly enjoyed his big pull out couch bed and has added "hotel" to his ever expanding vocabulary.
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After intake we came back to the hotel and then tried out a little bakery/sandwich shop around the corner. They are so high tech here in Silicon Valley... you could order off ipads. *eyes rolling* We sat out on the patio and enjoyed the awesome temps and NOOOO humidity!
Then it was off for a quick hour nap, playtime with Grandma in her room and then over to Stanford to explore the campus and buy Will a t-shirt- or three :-) Drove around and found the fun part of campus, places to eat, drink and shop! Walked around, ate at an Italian food place then back home for bath, bed and blogging.
I'm off to bed now. We are going to wake up about 6:30 a.m. and load Will up with everything off the breakfast buffet we can find. He's been eating like a horse, but I'm sure tomorrow morning will be the only day he's not interested in eating, the one day he needs to.
Likely tomorrow will be a low key day and night. I have no pictures to share today, but if you read this whole posting I will reward you with a cutie pie picture from a few weekends ago. I did update our web album before we left. Check out the last 20ish pictures for new stuff.
If you have any other questions etc. feel free to leave me a comment and I will answer you back. Peace & Love from Cali!