The joy arrived when she shared how she ended up deciding to Take Action and become a published author.
This female entrepreneur now seeks the stage to share Her Story to inspire as many women as possible.
Her message is: “Nothing is Impossible!”
About Lori Fizzard Living With Abetalipoproteinemia
What is abetalipoproteinemia?
Abetalipoproteinemia is an inherited disorder that affects the absorption of dietary fats, cholesterol, and fat-soluble vitamins. People affected by this disorder are not able to make certain lipoproteins, which are particles that carry fats and fat-like substances (such as cholesterol) in the blood. Specifically, people with abetalipoproteinemia are missing a group of lipoproteins called beta-lipoproteins.
An inability to make beta-lipoproteins causes severely reduced absorption (malabsorption) of dietary fats and fat-soluble vitamins (vitamins A, D, E, and K) from the digestive tract into the bloodstream. Sufficient levels of fats, cholesterol, and vitamins are necessary for normal growth, development, and maintenance of the body’s cells and tissues, particularly nerve cells and tissues in the eye.
The signs and symptoms of abetalipoproteinemia appear in the first few months of life. They can include failure to gain weight and grow at the expected rate (failure to thrive); diarrhea; abnormal star-shaped red blood cells (acanthocytosis); and fatty, foul-smelling stools (steatorrhea). Other features of this disorder may develop later in childhood and often impair the function of the nervous system. Disturbances in nerve function may cause affected people to eventually develop poor muscle coordination and difficulty with balance and movement (ataxia). Individuals with this condition may also develop an eye disorder called retinitis pigmentosa, in which progressive degeneration of the light-sensitive layer (retina) at the back of the eye can cause vision loss. Adults in their thirties or forties may have increasing difficulty with balance and walking. Many of the signs and symptoms of abetalipoproteinemia result from a severe vitamin deficiency, especially a deficiency of vitamin E.
How common is abetalipoproteinemia?
Abetalipoproteinemia is a rare disorder with approximately 100 cases described worldwide.
What genes are related to abetalipoproteinemia?
Mutations in the MTTP gene cause abetalipoproteinemia. The MTTP gene provides instructions for making a protein called microsomal triglyceride transfer protein, which is essential for creating beta-lipoproteins. These lipoproteins are necessary for the absorption of fats, cholesterol, and fat-soluble vitamins from the diet and the efficient transport of these substances in the bloodstream. Most of the mutations in the MTTP gene lead to the production of an abnormally short microsomal triglyceride transfer protein, which prevents the normal creation of beta-lipoproteins in the body. A lack of beta-lipoproteins causes the nutritional and neurological problems seen in people with abetalipoproteinemia. Read more about the MTTP gene.
How do people inherit abetalipoproteinemia?
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.
“Living with Abetalipoproteinemia” is Lori’s life experience dealing with this disorder.
It is her hopes and wishes that this book will inspire and educate other people on this topic.
Lori stayed strong and true throughout her years of challenges, successes and set backs.
In this book she shares some of these stories with you to educate and bring awareness to the struggles facing people with Abetalipoproteinemia.
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