Monday, October 24, 2011

Pumpkin patch pics & EPI-743 explanation

Reagan did not go to sleep until 1am last night (of course she would do this, now that we no longer have a regular night nurse)!!! She did wake up once and fussed a little, I checked on her and noticed she kept pulling her hair, so I put a sock on her hand and eventually she settled down and went back to sleep (not sure when, I was so tired). Then she slept in til almost 10am this morning!!! Turkey. She woke up happy (and laughing) but has been quite hyperactive today. Lots of chorea, some crazy laughs and yelling out (and lots of clear fluid draining from her stomach), but overall she's been happy and very vocal. She still has the "bad day smell" but that may just be from her being so active and sweating more than usual. I'd like to think that she's going to skip over the bad days this go round. Please keep that in your prayers!!! So here's a quick (semi-simplified) explanation of EPI-743, the study medication that Reagan is now taking. EPI-743 is a molecule that is similar in structure to CoEnzyme Q10 but works 1000x more efficiently and readily crosses the blood brain barrier. Patients that have a mitochondrial disorder have a problem with one or more of the complexes of the electron transport chain which is responsible for generating energy for the body to function. Molecules like CoQ10 and EPI-743 help the electron transport chain to function more efficiently by moving electrons down the chain. They don't necessarily fix the problem, but they help to bypass the problem area. Studies have been done in cells from patients that had a deficiency in the transport chain and were destined for cell death and EPI-743 actually rescued these cells from dying. As as scientist, things like this really excite me. Now experiments don't always translate to success in the body...but just talking with random nurses and doctors at Stanford...they have seen drastic improvements in the children taking this medication (which is even more exciting)! So we're hopeful. This medication is literally the ONLY medication out there that actually treats mitochondrial disease (instead of just treating the symptoms of the disease). Reagan will start off at a dose of 50mg 2x day, then it will increase to 100mg 2x a day, and then it will increase to the highest dose of 100mg 3x day. They gave us a 7week supply when we left and then they'll ship the next shipment to us. We're supposed to go back after she's been on the medication for 13weeks (but they are all booked up that week), so instead we'll go back on week 12 (Jan 12-13...I'll be 7 weeks from my due date). When we go back they'll run some more tests (including another brain scan), take our account of any improvement or side effects we've seen, and then we can decide if we want to keep her on the medication or take her off. From what I understand, nearly everyone chooses to keep their kids on it (indefinitely). Please let me know if you have any more questions about the medicine itself or the protocol that Reagan is on...I'd be happy to answer them (if I can)!

Below are a few pics from our trip to the pumpkin patch in CA...

Loved this little piggy.

Hand in the mouth (and hand in the hair)...of course!


the Grandma said...

OK! I am so impressed! You can take something as complex as EPI-743 and break it down so that even a lay person(like me) can get a basic understanding of how it works!!! I am so proud of the woman/doctor/scientist/wife/mother/daughter/friend that you have become!!! I love you!
PS........I love that gorgeous little creature in the pictures too!! And....I'm not talking about the bunny,pig or goat. Kiss my Sweetie for me!! I love you!

Glenda said...

Did they give you any indication of what type of changes you might see in Reagan if the medication begins to work?