More info on Mito

My friend Lorna posted this on her site, and it is very interesting...

This information is pulled from http://www.k12academics.com/mito.htm

Mitochondrial diseases are a group of progressive metabolic, often neurological, disorders that result from defects in the mitochondria, which are in almost every type of cell in the body. Mitochondria are responsible for creating more than 90% of the energy needed to sustain life and support growth. Mitochondrial failure results in energy deprivation within the cells. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the affected person's life is severely compromised. The disease primarily affects children, but adult onset is becoming increasingly common. Diseases of the mitochondria appear to cause the most damage to organs requiring high energy levels including: brain, heart, liver, skeletal muscles, kidney, eyes, and the endocrine and respiratory systems.

Mitochondrial disorders are notorious for not following a set pattern. It is not uncommon for patients to first be misdiagnosed with another disorder. Symptoms can begin at any age. Depending on which cells are affected, symptoms may include: loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays, autism, and susceptibility to infection.

Mitochondrial disorders are not always physiologically obvious. Intelligence can range from gifted to profoundly retarded. Children with fewer affected mitochondria may be mislabeled as lazy, uncooperative, or underachievers. At the beginning of the school day, for example, they may appear energetic and focused. But as the day progresses, their small reserve of energy evaporates and they are unable to complete the same tasks as their classmates. These children may also be labeled as mildly retarded because of their slowness, when in reality they may be merely fatigued.

There is no one identifying feature of mitochondrial disease. Patients can have combinations of problems whose onset may occur from before birth to late adult life. Typically, the earlier the onset of symptoms, the more severe the disease. Symptoms can be progressive and may include, but are not limited to, combinations of the following: seizures, developmental delay, regression, movement disorders, migraines, strokes, cardiac problems, hearing deficit, eye muscle dysfunction and visual loss, diabetes, GI problems, temperature irregularities, fatigue, failure to gain weight, mental retardation, autism, behavior problems, and dementia. Siblings with the same defect can have differing levels and types of symptoms.

Treatment and Mortality
At present, there are no cures for mitochondrial disorders and no truly effective treatments. The goals of current treatments are: to alleviate symptoms, and to slow down the progression of the disease.

General therapies often include supplements such as CoQ10 and vitamin "cocktails" which may enhance enzyme activity within the mitochondria, and act as antioxidants. Effectiveness of such treatments is largely anecdotal, noticeably helping some and not others. As a rule, those with mild disorders tend to respond better than those with severe disorders. While effectiveness may not be definable, these treatments may delay the progression of the disorder.

Prescription medications may also be necessary to control such symptoms as seizures, heart irregularities, and secondary diabetes. Physical therapy, speech therapy, and other types of therapies may also be utilized.

Some typical considerations regarding treatment of mitochondrial patients include the following:
• Standard therapies for specific symptoms may be necessary.
• Dietary - some mitochondrial patients may be on strict diets; others may not. Avoidance of fasting is critical; small, frequent meals may be necessary. Patients with GI and swallowing difficulties may require gastric tube feedings.
• Vitamins and supplements are usually prescribed.
• Treatments must be tailored to the individual, often resulting from trial and error by the physician.
• Avoidance of physiologic (external) stress factors. Those with autonomic symptoms (inability to control involuntary functions such as temperature control and heart rate) may require a more controlled temperature environment. Over- or under-heating may trigger a medical crisis.
• Avoidance of exposure to illness - even minor acute illnesses, such as colds, may cause a medical emergency, resulting in hospitalization.

Mitochondrial disorders are generally progressive and may be fatal. However, due to the individuality of symptoms and the differences in specific mitochondrial disorders, it is sometimes difficult even for physicians to predict a prognosis. Some patients live into adulthood. However, earlier and more severe symptoms generally result in a shorter life span.

Updated post

Check out the update, with addition of video, to the 9/12 blog entry. Enjoy!

Remodeling

I've been doing work at the house again. It all started when I moved into the house, and removed 3 walls - which left big holes in the ceiling. Combine those holes with water damage that was here in the ceilings due to roof damage prior to me owning, and toss in roof damage from the big storm last December, and it was time to get it fixed.

So, I was going to have the ceiling patched where needed, and then re-texture. Until I got a call from the contractor on the first day, and the entire ceiling was coming down. So - I am now in process for a much bigger job of removing all the popcorn, and smoothing out, putting a gentle texture on, and then painting. Here are some pics of the madness...

Yes, this is the living room that I am so proud of... the plastic on the walls is very surreal....

Plywood - gone.. New bookshelf to be built in... and this is looking into the kitchen...

Yes - my Dining room looks spectactular. Dinner? And, the view down the stairwell... it's a user friendly house right now...

Cheerleading, part duex

Well, we are most of the way through the season. It's been crazy. The cheer folks are under the auspices of the football association, and they are much more concerned about the cheer folks fundraising for the boys, than running a sport for the girls. I've been mostly pleased with the way they have approached cheer for those who are first year girls - give an overview of the sport, let them have fun, and give a good overall impression so that they determine where they want to go with cheer in the future. For the most part, we've hit it.

Now, I have to be honest. I was one of those folks in highschool who made fun of cheerleaders. I didn't want to be one, didn't want to know any of them, and now here I am as a mom letting the girls do what they think is cool. The girls have been in gymnastics for over 3 years (5 for Gwenn) and I've realized that these are tough sports - and cheer is no exception. I'm actually starting to think that cheer gyms may be the best way for those that are serious about cheerleading to compete and learn.

We'll see if they want to participate next year. For now, all I care is that they are having fun...

Olympic Torch Bearer

Hi All,

I'd love it if as many of you as possible would consider following this link and going to vote for Jenny as an Olympic Torch Bearer. Jenny Bowen is an amazing woman who founded Half the Sky, an amazing charity that directly impacts the lives of thousands of orphans in China each year. HTS is one of the charities that I support, and I have been very touched by the impact that they have had on the lives of children in China - not only those who are adopted, but those who remain behind.

How fantastic it would be to have Jenny as a torch bearer for the 2008 Summer Olympics in Beijing - truely someone who has impacted thousands and thousands of lives...

Guatemala Suspends US Adoptions after 1/1/08

Well, it was bound to happen at some point, and the news started yesterday and is rushing in today - Guatemala will suspend all adoptions to the US starting 1/1/08. This will leave thousands of children who are "in process" of being adopted in a legal limbo, and their parents in worse shape - trying to ascertain if the child that they having been waiting for has the right paperwork to prove that they were relinquished within the legal guidelines and boundaries.

You can see the CNN video here, or read the article here...

Guatemala is one of the only countries where birth parents receive renumeration (read money) for relinquishing a child for adoption. Lawyers are the first line, and they recruit children through birth parents in local papers. Often these kiddos are truely in a situation where the parents can't care for them and the BP's want a better life for them - and they are relinquished. But in some cases there is a strong case for the fact that either the BP's have been paid to relinquish their child, or even worse, bullied into relinquishment.

Adoption can be a fantastic thing for children who need homes, and for parents who want to provide homes. But we cannot forget that a birth parent has the right to parent their child, even if they live in poverty, don't drive fancy cars, etc. While Guatemala does this shut down, I think it needs to refocus and remember that the American adoptive parents (AP's) are not at fault. If Guatemala was serious about reform they would look to countries like China, where there is a spotless reputation - and work to emulate them. No money for relinquishment of birth children by birth parents. Continue streamlined process to place children quickly into adoptive homes. Remove the lawyers from the process, and set up orphanages to manage and house the children as they wait for adoption.

It's going to be a long road for Guatemala. Now we just have to wait and see what the next steps this government will take to quickly review the legal status of the thousands of "in process" children, so that they can be reunited with birth parents, or united with their adoptive parents. Unfortunately, this legal limbo does the child no good.

Baptised and stuff

Well, this weekend was Lucy's baptism. We had a fine little party with friends and family, and now I get to clean up and enjoy.