Sophie Patmore - Mitochondrial Disease - Long Term Ventilation - Tracheostomy
 
LATEST NEWS
28/04/2011 09:41:55
Running for Wheels of Experience
Annette's childhood friend Fliss and her friend Jenn are running for Wheels of Experience - please sponsor them!
Read More >>
01/12/2010 19:58:21
The Wheels of Experience Pamper Evening
Our first fundraising event for the 'Wheels of Experience' raises £1,173.96!
Read More >>
13/09/2010 15:47:01
Sophie's Switch Toys
A great blog on the 'One Switch' site about Sophie and her switch toys
Read More >>
View All News >>

RECENT BLOGS
31/12/2011 09:27:20
Wishing everyone a happy and healthy 2012
We would like to wish everyone a happy and healthy new year
Read Blog >>
29/11/2011 21:32:07
Autumn 2011 - A busy few months!
Sophie is enjoying school, had fun on a special weekend away, met Bob the Builder and has a new cousin!
Read Blog >>
View All Blogs >>
What is Mitochondrial Disease?
Mitochondrial Disease Frequently Asked Questions
Mitochondrial Myopathies Frequently Asked Questions
Symptoms of Mitochondrial Disease

MITOCHONDRIAL DISEASE FAQ's

What is Mitochondrial Disease?
Mitochondria exist in nearly every cell of the human body, producing 90 percent of the energy the body needs to function. In a person with mitochondrial disease, the mitochondria are failing and cannot convert food and oxygen into life-sustaining energy. For many, mitochondrial disease is an inherited genetic condition, while for others the body's mitochondria can be affected by other environmental factors.

How does Mitochondrial Disease affect the body?
The parts of the body that need the most energy, such as the heart, brain, muscles and lungs, are the most affected by mitochondrial disease. The affected individual may have strokes, seizures, gastro-intestinal problems, (reflux, sever vomiting, constipation, diarrhea), swallowing difficulties, failure to thrive, blindness, deafness, heart and kidney problems, muscle failure, heat/cold intolerance, diabetes, lactic acidosis, immune system problems and liver disease.

What symptoms could an undiagnosed individual exhibit?
The child or adult may have seizures, severe vomiting, failure to thrive, heat/cold intolerance, poor muscle tone, delayed achievement of milestones, sever diarrhea/constipation, feeding problems, unable to fight typical childhood infections or repeated infections and fevers without a known origin. A "red flag" for mitochondrial disease is when a child or adult has more than 3 organ systems with problems or when a "typical" disease exhibits atypical qualities.

What is the prognosis for these individuals?
As more research dollars are raised to find more effective treatments and ultimately a cure, some of the affected children and adults are living fairly normal lives with mitochondrial disease. At the opposite end of the spectrum, many are severely affected, and some children do not survive their teenage years.

When is someone with Mitochondrial Disease at the highest risk?
The child or adult is at highest risk for neurological and organ damage during and for the two weeks following an illness. Therefore even a simple flu or cold virus can have devastating effects on the patient, even death. Any illness must be treated immediately with medical interventions, like IV fluids and IV antibiotics.

How many individuals are affected?
Every 30 minutes, a child is born who will develop a mitochondrial disease. Each year, 1000 to 4000 children in the United states are born with a mitochondrial disease. While exact numbers of children and adults suffering from mitochondrial disease are hard to determine because so many people who suffer from mitochondrial disease are frequently misdiagnosed, we now know the disease is approaching the frequency of childhood cancers. Many are misdiagnosed with atypical cerebral palsy, various seizure disorders, childhood diseases and diseases of aging. Still others aren't diagnosed until after death.

Can adults have Mitochondrial Disease?
Yes, many adults are diagnosed with adult-onset mitochondrial disease. Some of these individuals have been ill their whole lives but went undiagnosed. Others have carried the genetic mutation that causes mitochondrial disease since birth but did not show any symptoms until a severe illness brought them on. Adult mitochondrial patients are affected in a similar manner to the children who are affected.

Source: United Mitochondrial Disease Foundation

 

HOME PAGE | SOPHIE'S STORY | OUR PHOTOS | RECENT BLOGS | MEDICAL INFO | USEFUL LINKS | CONTACT US

SOPHIE PATMORE'S STORY - © COPYRIGHT 2012 - ALL RIGHTS RESERVED.

WEB DESIGN GUILDFORD | MARKETING COMPANY SURREY