Wednesday, September 26, 2012

Mito slideshow

One of our amazing Mito Mom friends made a slideshow for Mito Awareness week last week. I am a little late in sharing it, but I hope it will help others. It can be a tear jerker, so just a fair warning before you watch it. Please feel free to share, we need all the help we can get in educating as many as we can about Mitochondrial Disease. Click the link below to view the slideshow.

AZ Mito Slideshow
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Wednesday, September 19, 2012

Mito & VLCADD facts

Since this is Mitochondrial Disease Awareness week, I wanted to make a post about what Mito is as well as specifically VLCADD which is the thyme of Mito that Landon is effected with. I hope this helps educate those who weren't quite sure about Mito and/or VLCADD. I forget with everything we've learned along the way that not everyone has been through the journey with us and doesn't get all the information we do through our support groups and from the doctors and nutritionists. When I met with Landon's geneticists the first time, I literally went in with pages upon pages of questions. He said he had never had anyone 'grill' him in that way about the disease. It was information overload, but I just had to know everything I possibly could right then and there. We then had to wait 11 weeks to get the results from Landon's skin biopsy that was also taken that day when he was 3 weeks old. So, as you all know this a cause near and dear to my heart and my families as well.

Mito and VLCADD Facts:

What is Mitochondrial Disease?
  • Mitochondrial disease is a chronic, genetic disorder that occurs when the mitochondria of the cell fails to produce enough energy for cell or organ function.
  • The incidence about 1:3000-4000 individuals in the US. This is similar to the incidence of cystic fibrosis of caucasian births in the U.S.
  • There are many forms of mitochondrial disease.
  • Mitochondrial disease is inherited in a number of different ways
  • Mitochondrial disease presents very differently from individual to individual.
  • There may be one individual in a family or many individuals affected over a number of generations.

How common are mitochondrial diseases?
  • About one in 4,000 children in the United States will develop mitochondrial disease by the age of 10 years.
  • One thousand to 4,000 children per year in the United Sates are born with a type of mitochondrial disease.
  • In adults, many diseases of aging have been found to have defects of mitochondrial function.
  • These include, but are not limited to, type 2 diabetes, Parkinson's disease, atherosclerotic heart disease, stroke, Alzheimer's disease, and cancer. In addition, many medicines can injure the mitochondria.

What are the Challenges of living with Mitochondrial Disease?
  • Affects multiple organs, affects multiple family members, affects multiple generations.
  • Lack of awareness and understanding of the disease
  • Families are continuously forces to expend their very limited energy to explain their disease, advocate for themselves and fight for services.
  • Mitochondrial disease is often an " invisible disease."
    • Good day - patients look fine and healthy. They have more energy and appear rested.
    • Bad day - - patients appear tired to significantly ill. They are obviously fatigued and/or have significant illness. Repeated "bad days"often lead to decompensation and patients have difficulty returning to baseline.
  • Mitochondrial disease is unpredictable. Day to day, hour to hour patients can develop symptoms and their stability can be threatened.
  • Difficulties establishing a diagnosis interfere with a patient's ability to obtain adequate recognition, medical care, adequate insurance coverage, healthcare supports and disability services.
  • Lack of understanding of the disease and misinterpretation of symptoms can lead to misdiagnosis. Further progression of symptoms can occur if the symptoms are missed and opportunities for treatment and support are not recognized.
  • An individual can become symptomatic at any time in life despite the fact that it is inherited.
  • It is difficult to diagnose.

What is VLCAD deficiency?
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).

Signs and symptoms of VLCAD deficiency typically appear during infancy or early childhood and can include low blood sugar (hypoglycemia), lack of energy (lethargy), and muscle weakness. Affected individuals are also at risk for serious complications such as liver abnormalities and life-threatening heart problems. When symptoms begin in adolescence or adulthood, they tend to be milder and usually do not involve the heart.

Problems related to VLCAD deficiency can be triggered by periods of fasting, illness, and exercise. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.

How common is VLCAD deficiency?
VLCAD deficiency is estimated to affect 1 in 40,000 to 120,000 people.

What genes are related to VLCAD deficiency?
Mutations in the ACADVL gene cause VLCAD deficiency. This gene provides instructions for making an enzyme called very long-chain acyl-CoA dehydrogenase, which is required to break down (metabolize) a group of fats called very long-chain fatty acids. These fatty acids are found in foods and the body's fat tissues. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues.

Mutations in the ACADVL gene lead to a shortage (deficiency) of the VLCAD enzyme within cells. Without sufficient amounts of this enzyme, very long-chain fatty acids are not metabolized properly. As a result, these fats are not converted to energy, which can lead to the characteristic signs and symptoms of this disorder such as lethargy and hypoglycemia. Very long-chain fatty acids or partially metabolized fatty acids may also build up in tissues and damage the heart, liver, and muscles. This abnormal buildup causes the other signs and symptoms of VLCAD deficiency.

Read more about the ACADVL gene.

How do people inherit VLCAD deficiency?
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

sources: and http://ghr.nlm.nih.govpost signature

Monday, September 17, 2012

New Design!

To Celebrate Mitochondrial Disease Awareness week, we decided to debut our new blog design! There are little hints of Mito awareness (ahem, the ribbon) here and there in the design! I am so excited about it, we'd had the old design forever and we found an amazing blog designer to incorporate all of it into the design for us!

I hope you have your green light bulbs on your porch lights to help us raise awareness. If you do, please feel free to share a picture with us we would love to see them all!

Finally, feel free to steal our button over there to the left and share it, put it on your blog, etc. The more people we teach about Mito and make aware of it the better!
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Tuesday, September 11, 2012

Sunday starts Mitochondrial Disease Awareess Week. A very talented Mito kid made the banner below, and again please feel free to use it on fb, twitter, your blog whatever. The goal is to get the word out to raise awareness and find a cure for these kids. Hopefully you have purchased your green lightbulb for your porch light by now. No excuses, they are $1.88 at Walmart!

Friday, September 7, 2012

It's that time of year again

Mitochondrial Disease Awareness week is coming up in just a little over a week. This year it is September 16-22, please help us spread the word and help find a cure. Once again this year, we will be turning our porch lights green. You can buy a Mito green light bulb at Walmart for $1.88, so I don't want to hear any excuses about not having one!

I personally find it ridiculous that Mito only gets 1 WEEK for awareness, where as other disease get a whole freaking month. We need to get the word out about this disease and how it effects both adults and children. I only hope that no more of Landon's friends will have to suffer and/or die. We lost waaaay too many friends this year, and they were all so, so young. Please, all we ask is for a green porch light for a week to try and help find a cure for kids like Landon. Feel free to share our blog, or post about it on Facebook, twitter, whatever it is that you use. Thank You in Advance, and feel free to steal the picture below and use it to help us.