Join us on Saturday, May 12, 2007 for a 2 mile family friendly walkathon followed by a post-event celebration. Step Forward to Cure TSC is a national fundraising effort organized locally by the Houston area volunteers and families affected by tuberous sclerosis complex (TSC). The Step Forward walkathon provides an opportunity to create awareness of TSC and raise funds for community support programs and research to find a cure.
The walk will take place at McGregor Park located at 5225 Calhoun - Houston, TX.Registration begins at 9:00amWalk starts at 10:00am
Over the past three years, the Houston walkathon has raised more than $125,000 with an average of 200 participants each year. These funds have allowed the TS Alliance to help researchers make some amazing strides in finding ways to slow the growth of TSC-related tumors. But it is only the beginning. More needs to be done, and we need your help to find a cure.
The 4th Annual Houston walkathon offers a wonderful occasion for businesses and their employees to join together outside of the workplace with their families, co-workers, friends and clients to make a difference in their local community.
Register as a Walker
Sponsor a Walker (Kelly Kemski once you click here)
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Whether you decide to walk for yourself, a loved one, a hero, or a stranger, your participation in the Houston walkathon supports the life-saving work of the TS Alliance.
Please help Austin and so many others by walking or sponsoring me, be an Angel Walker.
Sunday, March 25, 2007
Friday, March 23, 2007
Friday, March 2, 2007
I forgot to add that in August 2007 our little Austin was diagnosed with tuberous sclerosis, TSC1. He has TSC but it doesn't have him.
Definition of Tuberous sclerosis
Tuberous sclerosis: A genetic disorder characterized by abnormalities of the skin, brain, kidney, and heart. The skin abnormalities are present in all cases and may include tiny benign tumors (angiofibroma) on the face and depigmented areas anywhere on the body. The brain abnormalities are mainly benign cortical tumors (tubers) which cause seizures, developmental delay, and mental retardation. The kidneys often contain multiple cysts and benign tumors (angiomyolipomas). The heart problems include arrhythmias and benign heart muscle tumors (rhabdomyomas).
The diagnosis of tuberous sclerosis is usually made by the medical history and clinical observation. For example, a child with a known seizure disorder is seen to have white spots on the skin visible under ultraviolet light.
Tuberous sclerosis is inherited in an autosomal dominant manner and results from mutation of either one of two genes: the TSC1 gene on chromosome 9 or the TSC2 gene on chromosome 16. The TSC1 gene makes a protein called tuberin. These two proteins function together in cells to regulate and prevent the overgrowth of cells into tumors. When either the TSC1 or TSC2 gene is mutated, nonfunctional versions of hamartin or tuberin are made in the cell. As a result, the hamartin-tuberin protein complex does not form and cells divide too frequently, leading to the formation of noncancerous tumors. Two-thirds of cases of tuberous sclerosis are due to new mutations and the other third are inherited from a parent.
Common Misspellings: tuberous sklerosis, tuberous sclorosis, tuberous schlerosis, tuberous scleroses
Definition of TSC1
TSC1: The tuberous sclerosis 1 gene. The product of the TSC1 gene is a protein called hamartin. This protein interacts with tuberin, the product of the TSC2 gene. These two proteins form a complex and play a role in cell growth and division. TSC1 functions as a tumor suppressor gene.
Mutation in the TSC1 gene causes tuberous sclerosis. The mutant TSC1 gene produces an abnormal version of hamartin. This abnormal protein cannot form a complex with tuberin, the product of the TSC2 gene. Loss of this protein complex causes cells to divide too often, resulting in cell overgrowth and benign tumors. The TSC1 gene is located on the long (q) arm of chromosome 9 in band 9q34.
Definition of Tuberous sclerosis
Tuberous sclerosis: A genetic disorder characterized by abnormalities of the skin, brain, kidney, and heart. The skin abnormalities are present in all cases and may include tiny benign tumors (angiofibroma) on the face and depigmented areas anywhere on the body. The brain abnormalities are mainly benign cortical tumors (tubers) which cause seizures, developmental delay, and mental retardation. The kidneys often contain multiple cysts and benign tumors (angiomyolipomas). The heart problems include arrhythmias and benign heart muscle tumors (rhabdomyomas).
The diagnosis of tuberous sclerosis is usually made by the medical history and clinical observation. For example, a child with a known seizure disorder is seen to have white spots on the skin visible under ultraviolet light.
Tuberous sclerosis is inherited in an autosomal dominant manner and results from mutation of either one of two genes: the TSC1 gene on chromosome 9 or the TSC2 gene on chromosome 16. The TSC1 gene makes a protein called tuberin. These two proteins function together in cells to regulate and prevent the overgrowth of cells into tumors. When either the TSC1 or TSC2 gene is mutated, nonfunctional versions of hamartin or tuberin are made in the cell. As a result, the hamartin-tuberin protein complex does not form and cells divide too frequently, leading to the formation of noncancerous tumors. Two-thirds of cases of tuberous sclerosis are due to new mutations and the other third are inherited from a parent.
Common Misspellings: tuberous sklerosis, tuberous sclorosis, tuberous schlerosis, tuberous scleroses
Definition of TSC1
TSC1: The tuberous sclerosis 1 gene. The product of the TSC1 gene is a protein called hamartin. This protein interacts with tuberin, the product of the TSC2 gene. These two proteins form a complex and play a role in cell growth and division. TSC1 functions as a tumor suppressor gene.
Mutation in the TSC1 gene causes tuberous sclerosis. The mutant TSC1 gene produces an abnormal version of hamartin. This abnormal protein cannot form a complex with tuberin, the product of the TSC2 gene. Loss of this protein complex causes cells to divide too often, resulting in cell overgrowth and benign tumors. The TSC1 gene is located on the long (q) arm of chromosome 9 in band 9q34.
Ian and Austin
The boys are doing great! Austin has had no more seizures since the two on 02/13/2007. Ian had some more trouble with another child in school. This time he was in gym class and the boy singled him out to push and throw dirt at and call him some pretty bad names. This is just first grade! He seemed to take in stride and said the coach ignored him until he came up again and was crying. I am so fed up with this school!
On a lighter note here are some photos from a Valentine's party. And my stepdaughter got her first job and can now start driving her car! You go GIRL! You ROCK!
Austin is wearing big boy underwear today! You go AUSTIN
Eek
Here it is my first white hair. Rich says now he can say he's married to Polgara (some character in a fictional book he read).
I prefer that I now look like Bonnie Rait.
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