UMDF 2012 Mitochondrial Symposium Day 3- Family Meetings and Banquet

After a long day lobbying on Capitol Hill, and  a late night at the hotel lounge, mingling with new, and old friends ~all on this mitochondrial journey together, Friday morning came all too soon! Down to the lobby around 7:30am to meet an on-line friend in person, though I feel like I have known her for a while (you are a gem, C.C)! Then off to the first session at 8am! I also had the opportunity to help out at the MitoAction Booth (with Annie Balcells)  for a bit during the family session break. It was great to meet so many people!

Mito Overview Dr. Parikh

I thought this seminar was an excellent overview of mito and Dr. Parikh has a gift of explaining things in easy to understand terms (but he talks fast…so get ready!)! A few take aways that I got from this talk are:

ANY AGE, ANY SYMPTOM, AND ALMOST ANY DISEASE… can be Mitochondrial Disease…leads to difficulty diagnosing.

Mitochondria have bacterial origins and therefore how we combat bacterial infections (antibiotics) can affect Mitochondria

Unhealthy mitochondria propagate inflammation

The genetic of mitochondrial disease: 2 blueprints

Nulear DNA (nDNA)- 50% from mom/50% from dad – 1400 of these genes can cause Mitochondrial Disease, 80% responsible for mito function

Mitochondrial DNA (mtDNA or mDNA)- inherited only from your mother, but NOT the only DNA responsible for mitochondrial function – only 20%

Check out the cool animation clip of the mitochondria 3D- that Dr. Parikh shared

Primary Mitochondrial Disease- DNA- typo in DNA building blocks, keep the mito from being built properly

Secondary Mitochondrial Disease – a factory can be built well but if a tornado is going on out side it may not stand, meaning that something else may be going on inside of the cell that impacts the energy made by the mitochondria.

Mito Toxins (Pharmaceuticals):

  • Statins
  • Valproic Acid
  • Propfol
  • Aminoglycosides
  • Chemotherapy
  • HIV drugs
  • methanol
  • Carbon Monoxide

ALL other disease MUST be EXCLUDED…because many of them are TREATABLE!

Primary Mitochondrial Disease- RED FLAGS: (more here: Mito Tool Kit)

Some older adages: common disease with atypical features, more than 3 organ systems involved (too late), recurrent set backs, flare ups, with illnesses

RED FLAGS for MITO (primary)

  • Brain Disease (strokes on MRI but no blood vessel, basal ganglia (L&R), Balance  center shrinking, myclonic seizures)
  • Hearing Loss (early or unexplained)
  • Eye (retina, retinitis- pigmotosis, problem controlling eye movements, eye lids drooping)
  • Unexplained Short Stature in family (5’10” family and you are 5′)
  • Problems with weight GAIN (despite getting adequate calories)
  • Heart Rythm or Heart Muscle too big
  • Gut Motility (moving food to the colon, not fast enough or going to quickly)
  • Severe Low Tone (Hypotonia)
  • Unexplained Liver disease
  • excercise Intolerance (Oxygen consumption on treadmill)
  • Poor waking after general anesthesia (extra 1/2 of a day or a day to wake)

Yellow Flags (atypical phenotype) for Mitochondrial Disease

  • cyclic vomiting
  • schizophrenia+ Seizures
  • dysautonomia unexplained
  • Maternal inheritance (migraines)
  • Autism Plus- Regressive sub-type after age of 2 loosing skills that were acquired with or without a trigger
  • deterioration with Illness
  • Fasting Intolerance Can’t fast overnight
  • Mom who has pre-eclampsia, severe vomiting or severe fatigue during pregnancy
  • Maternal inheritance of mental illness (bipolar, depression)
  • Sudden infant Death
  • Short Stature

Dr.Parikh’s top 8- Mitochondrial Disease is…

  • a marathon not a sprint
  • undiagnosed in many situations
  • overdiagnosed in some clinics
  • blood and urine testing has low sensitivity (false negatives)
  • muscle testing has false positives
  • DNA testing improved but still imperfect
  • One abnormal result is not enough to make a diagnosis
  • Start with blood, urine and spinal fluids

Exome sequencing not ready for PRIME TIME… 20 pages of “typos” in your DNA… but don’t know what they all mean.

excercise/Nutrition/Therapy ONLY PROVEN WAYS to treat MITO

Integrating Physical Fitness and Alternative Therapies

I did not attend this talk but include it here for reference.

The Mito Cocktail One Size doesn’t fit all  Dr. Tarnopolsky

I did not attend this talk but include it here for reference.

Clinical Trials and EPI743

I attended only a portion of this talk, because I was able to participate in the MEET THE DOC session where you can spend 15 minutes with a mitochondrial specialist to ask questions.

GI Motility and Mitochondrial Disease – CHILD Session  Dr. Rodriguez

I attended this session and found it was an excellent overview of the GI system as well as a logical approach to dealing with GI issues in mitochondrial disease. A few short takeaways-

GI issues with MITO: GERD, Gastroparesis, Chronic intestinal pseudo-obstruction, intractable constipation

Enteric Nervous System involves ICC (interstitial Cells of Cajal)

Chronic Intestinal Pseudo-Obstruction=CIPO= end of the spectrum of GI motility

Symptoms= abdominal distention, vomiting, constipation, abdominal pain,poor weight gain, and diarrhea

Nutritional support is the mainstay of CIPO

One fascinating concept: When we EAT the brain sends a signal to OPEN the TOP of the stomach…but the DISTAL stomach is ALL AUTONOMICALLY CONTROLLED (ie. brain dose not control it Autonomic nervous system does!)

Also LOVE his TREATMENT FLOW CHART (around min mark 22.27) breaking down Foregut Midgut Hindgut

GI Motility and Mitochondrial Disease – ADULT Session  Dr. Rodriguez

I did not attend this talk but include it here for reference.

Immunology Issues in Children with Mitochondrial Disease, Child- Dr. Pacheco

The recording for this talk has not been posted yet, once it is I will update it here.

This talk was interesting and thought provoking, however the delivery of some of this information given, definitely ruffled a number of the attendees feathers in the room.

Dr. Pacheco is a pioneer in this field… she illustrated that the field of Immunology and Mitochondrial disease is lacking from all reviews and textbooks and that she is one of the only ones looking at this clinically, for this I am appreciative of her research.

Her talk, however, focused primarily on ADAPTIVE IMMUNITY from vaccination and little to no information was covered about INNATE IMMUNITY of MITO PATIENTS.

Of the case studies she presented she drew a clear connection that her mito patients Lactic Acid would RISE out of no were and the IgG level would drop (as measured through ER emissions and in-patient hospitalizations blood work). She established a need for these patients to use IVIG therapy (which after talking to another mom who attended the conference, I learned that her son was responding to a similar treatment, so glad to have met you T.H.!)

She also told the stories of a patient who had a seizure every time he was vaccinated.  She clearly stated that ALL OF HER PATIENTS WOULD BE VACCINATED, no matter what. So she worked with this boys epileptologist and they upped his epilepsy/seizure med before the next vaccine and vaccinated him and he had no seizure so they sent him home and everyone was good.   Being a scientist and a concerned mother… I wondered why was he having a seizure in the first place, concurrent with every time a vaccine was given (?). To me upping the meds seemed like a band-aid approach that could have masked the symptom (seizure), without looking for the true underlying cause of the symptom (seizure). But, I am not a doctor…so…

Genetics and Next Generation Sequencing – ALL Session  Dr. Thornburn

This was an EXCELLENT session and the overview Dr. Thornburn gave was thought-provoking and really demonstrated how far the field of mito medicine and sequencing had come and how far it still has to go! Plus I just loved his Australian accent! A Few Takeaways-

We all have 24 MILLION variants in our DNA Code

We have 3x 10^9 base pairs (that is 3,000,000,000!)= 3 Gb

I loved Dr. Thornburn’s understandable example of this-

3Gb= number of letter in Harry Potter series if it had 5000 volumes instead of 7! That is ALOT OF LETTERS!  and a change in just ONE of them…can cause mitochondrial disease!

Friday Night’s Banquet- Dr. William Gahl

I had a wonderful evening visitng with new friends. I sat with Christina, Sebastian, Tina, Lori, Dave and Cheryl (and one other mom whose name I have forgotten..sorry!). The Keynote speaker, Dr. Gahl, was fascinating! Congratulations to all the award winners. A special high-five to Rachel Ann Pipp who I met virtually before the conference! She won the LEAP award and was one of the awareness video submissions with my son (see Professor B here) for Mitochondrial Disease Awareness week. You can see Rachel’s video here.

To learn more about Dr. Gahl and the Undiagnosed Rare Disease program at the NIH- learn more here on his interview with 60 minutes.

Another LATE night…off to bed! Last day of the conference will be here before I know it.

About Empowered Advocacy Pediatric Patient Advocate
This entry was posted in Autism, Genetics, Medical, Mitochondrial Disease, Mitoxic, UMDF, Uncategorized. Bookmark the permalink.

3 Responses to UMDF 2012 Mitochondrial Symposium Day 3- Family Meetings and Banquet

  1. Whew, that’s a LOT of information! But leave it to you, my brilliant friend, to devour it and get so much out of it! Sounds like it was an awesome experience for you!!

    • Baby(food)Steps says:

      Thanks Sarah! It was ALOT of information and I still have another DAY to blog about! Info overload…but it is good doing these summaries- making me go back and condense it all in my head (and brain dump it onto my blog!)

  2. Pingback: UMDF 2012 Mitochondrial Symposium Day 4- Family Meetings and Wrap Up | Taking Baby{food}Steps…

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