Hi there - wow yesterday was a rough one.  Cody must have had 30 seizures total.  We went to see his gastro Dr. yesterday morning - because now that we know of his mitochondrial disease diagnosis - we can better understand the gravity of his gastro issues.  I told the Dr. that Cody often has undefined pain- and just screams and screams - and we don't know what to do for him.  I believe it is gas-pain related and have believed that for years.  He gave me a protocol to start with miralax, senna, and glycerin suppositories to try to get his colon contracting better.  There are so many muscles involved in digestion and elimination, that when you have a mito disease, the muscles just don't work.  He said we might also need to try a pureed-only diet to see if the problems stem from Cody not chewing his food enough (which is very true.)  And he said surgery - a lower endoscopy and a colonoscopy - is a good idea to see if inflammation is a problem.  Surgery would also tell us if there's excess matter in his colon that he can't get rid of because he can't "push it out."  Sorry to be so graphic - but hey - this Dr. deals primarily in poop!  He even says so! 

I told him of our success with the candida protocol through the DAN Dr. and he was very supportive.  He said that yeast may very well be an issue and to keep up the anti-fungal/pro biotics.  But he said clearly yeast is not the whole problem because Cody is still in pain quite often. 

So there we go.  I can't imagine a pureed diet since Cody's eating is really one of his needed sensory experiences.  But I'll cross that bridge when we get to it.  I've done food eliminations, allergy tests, etc etc etc.  Intuitively, I feel like the gastro pein is because his muscles don't work - and it takes more work for them to digest - and that lends iteself to extra gas and stomach cramping.  Dr. Wahbeh is super dooper great - we've been seeing him for 1.5 years now.  This is just such a hard area to treat and so exhausting to deal with on top of everything else. 

I've been doing more research on mito disease - there's a northwest guild for mitochondrial disease led by our own neuro, Dr. Saneto.  There are less than 50 doctors in our country who deal with mitochondrial disease.   Of those 50, Dr. Saneto is the *only* doctor specializing in pediatric epilepsy associated with mitochondrial disease.  We are SO LUCKY to be under his care.  People come here from all over seeking his expertise.  So we know we are in the BEST possible hands.  Course that doesn't make the disease go away.  Here's what the NW mito guild website says:

Mitochondrial disease results from failures of the mitochondria, which are specialized compartments present in almost every cell of the body. Mitochondria are called the "powerhouses" of the body since they are responsible for creating more then 90% of the energy needed by the body to sustain life and support growth. When mitochondria are not functioning correctly then the organs in our body begin to suffer.

A large number of people, especially children, suffer from defects in the mitochondria. Depending on which cells are affected, a child can have strokes, seizures, gastro-intestinal problems, blindness, deafness, muscle failure, diabetes, developmental delays, heart and kidney problems, immune system problems and liver disease. Whole systems within a body can begin to fail and the life of the child is compromised, changed or ended.

While mitochondrial disease is still considered by many to be a rare and relatively unknown disease; that is changing quickly.  Each year the estimates of the number of people with mitochondrial disease keep increasing as the medical community learns more about this disease.  Part of the reason for this is that this field of medicine is so new.  It was just 15 years ago that scientists first linked a mutation in mitochondrial genes to a disease.  Today, with over 120 defect-causing mutations identified  and new research revealing how the defects in the mitochondria trigger a wide variety of medical problems, more and more focus is being placed on the role the mitochondria play in keeping our bodies functioning properly.

Studies now suggest that when you combine the number of people that have defects in the elec tron transport chain with those patients with other diseases of the mitochondria such as CPT-II, carnitine transporter, MCAD, SCAD, LCHAD/Trifunctional protein deficiency, LCAD, pyruvate dehydrogenase, adenine nucleotide transporter, Freidriech Ataxia, mitochondrial DNA mutations, TCA deficiencies, and glutaric acidurias, the number of people suffering from mitochondrial disease is somewhere in the 1/1000 to 1/2000 range.  This would make mitochondrial disease the most common disorder of metabolism currently known today in the medical field. 

Currently, there is no cure for mitochondrial disease and even finding medical treatments is a challenge.  Today, there are no FDA-approved drugs targeted specifically for mitochondrial disease.  Doctors are left with prescribing vitamin cocktails to boost cell function (which may or may not have an impact), along with making suggestions about diet, avoiding stress and extremes in heat or cold  and providing medicines that can only treat the symptoms but not the underlying cause. 

Research is beginning to produce some marginally encouraging results and while a cure is still many years away, doctors such as Dr. Saneto are focused on educating others so that the disease will be identified more quickly as well as finding ways to provide better patient care in addition to identifying new research techniques that will one day assist the medical community in coming up with a cure.   

with love, Shawna