i like to inform other mito parents about the latest news from United Mitochondrial Disease Foundation in Capitol Hill 2012, i have the information from other parents that participated on this very important meeting,so here they are
1.Email from Jennifer and Joe about UMDF 2012 Symposium
Dear Tanja and Blasko,
The UMDF symposium was fantastic. We did not join the group on Capitol Hill but did attend the family sessions last Friday and Saturday. It was very informative and a great networking opportunity, meeting the doctors and other families affected with mitochondria disease. The keynote speaker at the symposium dinner was Dr. William Gahl from NIH in Bethesda, MD. His speech was excellent, but I have not been able to find it on YouTube, the UMDF site or the NIH site. His group can be found at the following website: http://www.genome.gov/10005723
He presented several examples of what his group has been able to do in combating rare diseases, including Leigh’s. He had several slides on EPI743, and one particular slide was very interesting, and encouraging about EPI. In that slide, he showed the effects of treatment on Leigh’s patients; specifically, treatments using the often used CoQ10 treatment and EPI. His study showed an 8% on average improvement of patients using CoQ10 versus an astounding 80% improvement with patients who are using EPI743.
Dr. Enns presentation was a review of EPI743 to date and how patients are doing post-protocol. Currently, there are 120 patients using EPI743 and thus far, no significant side effects. There have been some upset stomachs to start and a slightly elevated heart rate (Samuel included) for other patients. There have been 5 fatalities, but four of those were patients whose parents chose not to perform a tracheotomy (he didn’t say this, but this is information we learned from speaking with parents). The other was a non-Leigh’s patient. Dr. Enns showed a video of a patient from Hawaii who was severely affected with Leigh’s, like my Samuel, and his progress after starting the protocol. After 8 weeks on EPI, the boy could stand with support for a few seconds. After 13 weeks, the boy was shown attempting to take a few steps with assistance. At 20 weeks, the video showed the boy walking across the room in a wobbly manner. Truly amazing. Enns did note that this was an exception and that each child is different, and the EPI results depend on how far along the disease had progressed prior to beginning EPI and which gene mutations the child had.
At the conference, we met several families with children who had Leigh’s and two of the families had children on EPI743. Samuel was the only patient at the conference who was currently taking EPI743. We met a wonderful man from Hong Kong, who flew all the way to Washington to meet Dr. Enns and Dr. Cohen to hopefully get his son enrolled in the protocol. We saw video of his son, who is bedridden and desperately needing the drug. The problem is trying to get the drug in Hong Kong for him. Dr. Enns really wants to help, but it may be difficult due to the medical requirements needed for the boy to be treated in Hong Kong.
Regarding your question about vitamin E, Samuel is no longer taking vitamin E. When Sam started EPI, we were told to stop nearly all other supplements, including Vitamin E and the Mito cocktail. When Sam started the EPI, he was also prescribed Leucovorin (2ml @ 10mg) three times daily. Leucovorin is folic acid and is now a recommended treatment on the UMDF website. Two months ago, Sam started taking L-methionine (1/4 tsp three times daily), which is an amino acid, recommended by his mito doctor and approved by the EPI team. Currently, these are the supplements Samuel takes (the times given are our decision, and the time of the day which works best for our family and Samuel):
EPI743 (7am, 3pm, 11pm)
Leucovorin (8am, 4pm, 12am)
L-Methionine (mixed with overnight feeding, lunch and dinner)
Pulmicort (0.5/2ml) at 0900 and 2100 (used in a nebulizer to keep his lungs clear)
Tricitrates (Polycitra): 7ml mixed with food (overnight feeding, lunch and dinner)
Singular (4mg powder packet): Once a day, used to help prevent illness from beginning in mito patients
Lansoprazole (prevacid): 1.5ml before lunch and before night feedings to help prevent reflux
Eye drops (Sam suffers from dry eyes) and Nasonex for his nose (for allergies/pollen).
PRN: Benadryl (5ml) for vertigo (something which works great when Samuel gets vertigo episodes)
Of course, every patient is different, but this treatment has been working well for Samuel. Only the L-Methionine has been added since he started EPI. L-Methionine can be purchased from any health food store. It is often used by athletes for building muscle.
We hope all is well with your children. We enjoy reading your blog when we can. When will your daughter begin taking EPI?
Joe and Jennifer
2. The Martin Family's blog
and their seeing and participation in the symposium(only one part,the rest you can read from their blog)
and their seeing and participation in the symposium(only one part,the rest you can read from their blog)
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.
I hope that our blog can be some kind of a bridge between the old continent and the USA , also bridge between knowledge and ignorance, so that the parents with sick children can have more information about mitochondrial disease, so that they can do what's best for them, even be able to advice their doctors about certain approaches when your child has a mitochondrial disease, the nature has its own way but we can influence changing things with our actions, changing things for better