Tuesday, June 19, 2012

UMDF 2012 Conference: Friday

Friday: Conference Day 1
Session 1: Welcome & Managing your Symposium Experience. Heard from UMDF Chairman Dan Wright, who incidentally is from Dallas, Texas, as well as Chuck Mohan, UMDF CEO.
Session 2: Maximizing our Mitochondria on Capitol Hill and with National Institutes of Health (NIH). Director of NIH Office of Rare Diseases, Stephen Groft.
Both Session 1 and 2 were basic info on UMDF, what happened the day prior for those who couldn’t attend and articulated the process that researchers must endure to even prove treatment might work. On one hand I appreciate groups like the FDA – it keeps us well regulated – but on the other hand I wish they didn’t require so much red tape. It just makes everything painfully slow, especially to those like us.
Session 3: Mitochondrial Disease – What is it and what are the potential therapies out there? By Sumit Parikh, MD. http://my.clevelandclinic.org/staff_directory/staff_display.aspx?doctorid=5900
I wish I could have stayed for this whole session. I had to jet out early to catch the next one on EPI-743. Dr. Parikh is extremely well-spoken, animated and talks in layman’s terms without being condescending. Things I learned:
·        Our Mito actually form super complexes. Think of it like a highway. They form these incredibly long or short complexes for our energy to travel out of Complex 1 – 5.
·        Mito can “talk” to the nucleus and other mitos. The mito is tethered to the walls of our cells. This talking can lead to problems which leads to disease.
·        Primary Mito is an mtDNA or DNA problem; Secondary Mitochondrial diseases is something like Parkinson’s or Cancer. The mito disease is secondary to the other diseases but plays just as important of a factor.
·        As our Mito age and die, that’s why people die of natural causes.
Session 4: Clinical Trials and EPI – 743. Speakers included: Greg Enns (EPI-743 /Stanford), Ron Haller, Michio Hirano, Fernando Scaglia and Peter Stacpoole (Phase 3 of CoQ10 and how it works in Mito kids & Phase 3 Trial of Dichloracetate for Pyruvate Dehydrogenase Complex Deficiency / University of Florida).
Side note, there was a session on “The Mito Cocktail: One Size Doesn’t Fit All” that I wish I could have gone to as well, but it was at the same time as the Clinical Trials.
·        Basically, there isn’t any updates. There is cool stuff being done, but nothing is close to being available on a consumer level for treatments. You can google the names I listed above and find out their exact research projects.
·        I did have my first outright public crying episode in this session. Dr. Enns showed video footage of a EPI – 743 patient. Baseline test he could only walk with the extreme support of his caregiver. Week 6 he took his first 3 independent steps. Week 13 he walked five steps by himself. It was the same room we were in with Will and did these exact same things. I wasn’t expecting that reaction, but it was incredible to see his family and the reaction in the room was palpable. Everyone wants EPI and I feel guilty telling people we’re on it when their child isn’t. That’s another post for another day.
Lunch: We were asked to sit by geographies. I happened to sit next to one of the researchers. I can’t remember his name, but he is at Southwestern studying/researching the affect Cancer and Mito have on each other.
·        He said he’s never seen /been to a conference where the MDs, researchers and patients/families can interact. We both agreed it’s really cool.
·        He said he’s never seen an organization (UMDF) give as much money away as they do for research. Secretly, I’m always skeptical of groups and how they spend their money, UMDF included. It gave me great peace to know hear from someone else that UMDF is extraordinarily judicious in how they spend dollars. Only 6 cents of every dollar goes towards operating costs (salary etc.). The remainder goes to funding research for treatments and a cure.
·        I had lunch with a mom named Tina and her sister. She approached me at the conference because she reads our blog. It was awesome to meet her and learn more about her mito-affected son. Tina – get on facebook! J
Session 5: How Does Mito Affect GI Motility, Leonel Rodriguez MD
·        This was one of my favorite sessions. One of Will’s biggest problems is constipation.
·        Did you know:
o   That the stomach operates on its own system? The Enteric Nervous System. It sends a signal to the Central Nervous System for the stomach to open. Everything else operates independently of the body. BUT, that system and organ also have the possibility of bad mito.
o   Tissues that are highly dependent on oxygen include smooth muscle – our stomachs.
o   He took us through a flow chart of the gut and what you can do when something isn’t working.
o   He divided the stomach into three parts as it relates to treatment: Foregut (esophagus and stomach), Midgut (small intestine) and Hindgut. The Foregut also grinds everything into a soupy like mixture which goes through the intestines and then makes its exit.
o   The rectum is regulated by the spine
o   Probiotics help keep the bacteria out of the colon and will fight for space, thereby encouraging the colon to empty. It’s not good for the colon to be stretched, as Will’s once was. We’ve managed to get most of this under control with a probiotic!
o   I was told a probiotic called, Bifiado bacterium would also help keep the colon cleansing going. (Thanks Tina!) We are going to try and include it in our routine.
Session 6: Immunology Issues in Mito Kids, Dr. Susan Pacheco (*Disclaimer, she also is Will’s doctor)
·        Again, very interesting conversations here. What’s most alarming is that a description of mitochondria and immune function is ABSENT from ALL major reviews and textbooks on mito medicine published so far. So, we’re playing in a new field for the most part.
·        There was much discussion on vaccines, IVIG and bloodstream infections. I am going to save this topic for a separate post.
Session 7: Financial and Legal Issues.
·        This session was actually for child to adult planning. Like when you turn 18, what happens? I wanted to attend because we want to set Will up with a special needs trust and we also all need living wills. So, I learned some interesting information about how to protect your financial resources while not losing government funded healthcare. It’s sometimes a matter of pennies that could put Will at risk for being “too wealthy” to receive programs such as Medicaid.
·        I have a lot of to-dos from this session including: living wills, burial plots, special needs trust, life insurance outside of my employer, letter of intent, setting up a special needs trust advisory in case something happens to both of us and so on…
Dinner / Reception: Keynote speaker William Gahl, National Institutes of Health, Undiagnosed programs.
·        I didn’t take notes on this session because I was burned to a crisp from the previous sections. I wish I had recorded it though. He was an incredible speaker.
·        The basic conversation dealt with rare and undiagnosed diseases such as mito and how the NIH researches, funds and discovers answers. Who knew?
So that was Friday. I sat with a few new Mito friends including two people from Georgia. The woman has a son who at age 22 had adult onset of Leigh’s. He’s now 25 and you would never know he is sick. That shocked me. Then to my left was a man who has a 21 month old son who has clinical symptoms of Leigh’s (not confirmed through testing) and his son was in the hospital that week and has many problems. Just goes to show how diverse one disease can present itself and we all, in theory, have the same problem.


  1. Lori, I am exhausted just reading this!! :-) Two things I found most interesting were the mixing of the researchers and the patients/families and the amount you said UMDF uses to pay for the administration side of things. 6% is an *incredibly* low number in my experience with non-profits. You should be very happy about this!!

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  3. Wow, Lori! So much to take in. What an amazing trip. and tiring too. It goes without saying, but I hate that you have to learn all this. Its hard enough work being a mom, working, and wanting to spend time with your little boy. But you have to become an expert in so much medical stuff and when I got to the financial and legal part I just felt overwhelmed even reading, let alone having to do all that stuff. I don't profess to know the solution to our healthcare system, but I think its nuts that parents have to become lawyers to understand and protect their families when they have a sick little one. My dad worked with someone who had cancer behind their eye and the insurance company wanted to take their eye out. They found a doctor who could save the eye, but had to fight with the insurance to keep their eye. WTH?? When catastrophic medical situations happen, people are already running low on surplus energy. Not the time one wants to get an honorary law degree, or fight insurance companies. As a country I think we can do better. I don't know the solution, but some of this stuff is sheer lunacy. Biggest hugs to you! How is Will doing with this heat? We've been going to the Oak Forest pool almost every day. Its not too crowded and the kids love it. We have this floatie thing for Vincent and its been awesome. http://www.amazon.com/Stearns-Puddle-Jumper-Deluxe-Jacket/dp/B00364E1DE No wedgies, able to move about and swim, etc. Brilliant design. I wish I had known about it when Milena was younger. She had a constant wedgie from float suits that rode up around her neck. Vincent just jumps into the water over and over in that thing and has a ball.

  4. Christi - I am also quite impressed with the low overhead at UMDF. Based on the dollar amounts they awarded at the conference for new research it would have to be that low!
    Beth - Insurance is ridiculous as is the government, but hey, what are you going to do. Just figure out how to play the game I suppose.

    Will is doing ok with the heat, this weekend should be interesting though, it's inching up. Hopefully we'll do some water play in the morning at home before it's toooo hot. I wish our 100 year old house would cool down quicker. Oh well.