Patricia

I'd like to meet:

I would like to talk to people who are involved with charities, people who have Ehlers Danlos Syndrome, POTS, Chronic Fatigue Syndrome, Mast Cell Disease, or have a interest in cooking, cookbooks, politics, music, antiques, fashion,Comedy..or if you just want to chat.

Siobhan Owen 14 years old... A very talented young lady that will go very far with her music career....

Music:

Please Help Me Raise Awareness For Mastocytosis & Ehlers Danlos Syndrome Contest.

I am the spokesperson for Mastosytosis and I also have this. My son Dustin and I also have Ehlers Danlos Syndrome.

We love all different types of music, and since I am homebound and my son is most of the time we listen to a lot of it.. Each day on my page I will feature musicians & singers on my top friends and I will play their music.. I have found some very talented artists on myspace.. I am very impressed... The musician or singer with the most votes wins Ten Thousand Dollars.

. If the artist is already famous I would like them to tell me the charity they would like me to donate to.. If you are not famous I will give you the Ten Thousand Dollars for your music career....To cast your vote , just send me a message with the name of the person you want to vote for.. You can vote for yourself once a day, you can have your friends vote for you , and you can post a bulletin to let people know about this contest so they can vote for you.

Please Help Me Raise Awareness For Mastocytosis and Ehlers Danlos Syndrome.

This contest starts on January 1st. 2008 and ends on August 1st.2008. The name of the winner will be posted on August 15th.2008

Good Luck.

Please help us spread the word about Mastocytosis & Ehlers Danlos Syndrome,if one person would tell another person it would help us to raise awareness. You could also print out my information on the conditions and pass it out at events or concerts, you could also have a benefit concert.

Thank you so much for helping us Raise Awareness.

Thank you,

Patricia & Dustin ..

Movies:

Superman,,,, Did you know that Christopher Reeve had Mastocytosis (Mast Cell Disease),, from the (Superman Wikia)
Reeve had an unusual medical history. He suffered from asthma and allergies since childhood. At age sixteen, he also began to suffer from alopecia areata, a condition that causes patches of hair to fall out from an otherwise healthy head of hair. Generally he was able to comb over it and often the problem disappeared for long periods of time. Later in life, the condition became more noticeable and he shaved his head.
He had experienced several illnesses, including Infectious mononucleosis and malaria.
He suffered from mastocytosis, a blood cell disorder.
More than once he had a severe reaction to a drug. In Kessler, he tried a drug named Sygen which was theorized to help reduce damage to the spinal cord. The drug caused him to go into anaphylactic shock and his lungs shut down.
He had an out-of-body experience. He remembered saying, "I'm sorry, but I have to go now", before leaving his body. In his autobiography, he wrote, "and then I left my body. I was up on the ceiling...I looked down and saw my body stretched out on the bed, not moving, while everybody—there were fifteen or twenty people, the doctors, the EMTs, the nurses—was working on me.
Want this badge?The noise and commotion grew quieter as though someone were gradually turning down the volume." After receiving a large dose of epinephrine, he woke up and was able to stabilize later that night.
Want this badge?In 2003 and 2004, Reeve fought off a number of serious infections believed to have originated from the bone marrow. He recovered from three that could have been fatal. In early October 2004, he was being treated for a pressure wound that was causing a systemic infection called sepsis, a complication that he had experienced many times before. On October 9, Reeve felt well and attended his son Will's hockey game. That night, he went into cardiac arrest after receiving an antibiotic for the infection. He fell into a coma and was taken to North Westchester Hospital in Mount Kisco, New York. Eighteen hours later, on October 10, 2004, Reeve died of heart failure at the age of 52.
His doctor, John McDonald, believed that it was an adverse reaction to the antibiotic that caused his death.[80] A memorial service for him was held at the Unitarian Church in Westport, Connecticut, where he and his wife had attended.
Dana Reeve headed the Christopher Reeve Foundation after his death. She was diagnosed with lung cancer in 2005. She died on March 6, 2006 at age 44.
Christopher and Dana Reeve are survived by their son, Will, and Christopher's son Matthew and daughter Alexandra. Christopher is also survived by his parents and Dana by her father. Matthew and Alexandra now serve on the board of directors for the Christopher Reeve Foundation.
I also like the movies ... Pay it forward, Patch Adam, and the Wizard of Oz....

Books:

Please click on this link. Erica has Mastocytosis also. Her mother Kolleen runs her myspace page and is trying also to help raise awareness for Mastocytosis.Mastocytosis Will Not Stop MeWhat is Mastocytosis?
brIn the early to mid-20th century, all forms of Mast Cell Disease were undifferentiated and were grouped under the name "Mastocytosis." Mastocytosis specifically means "an abnormal increase in the number of mast cells," but we now know that definition, taken from the root words, relates to some very specific mast cell disorders, and may not apply to others.
Some of the research done in the latter part of the 20th century laid the groundwork for much of the work done today. Over the last 30 years, there has been an explosion of interest in, and research into, the various Mast Cell Diseases, resulting in many different categories being defined, and the definitions are still evolving.
So, for the purposes of this section, we will refer to the general term Mast Cell Diseases which encompasses the following very general subcategories:
Systemic Mastocytosis (with or without cutaneous manifestations such as Urticaria Pigmentosa.
Aggressive Mastocytosis
Indolent Mastocytosis
Mastocytosis with associated Hematologic Disorder,
Mast Cell Leukemia
Cutaneous Mastocytosis
Urticaria Pigmentosa (UP)
Telengiecstasia Macularis Eruptive Perstans (TMEP)
Mast Cell Activation Syndrome/ Disorder
More common Pediatric Mast Cell Disorders
Solitary Mastocytoma
Urticaria Pigmentosa
Diffuse Cutaneous Mastocytosis
What are Mast Cell Diseases?
In 2000, at a meeting in Vienna, Austria, a consensus was reached about what criteria must be fulfilled for a diagnosis of Mastocytosis (see our Research article entitled A Consensus Document for more information).
Many people met the new criteria. However, many patients who had been formerly diagnosed with "Systemic Mastocytosis" did not seem to fit into the agreed-upon criteria, possibly because their diagnostic work-up was done incorrectly, or was not conclusive, or because they were not tested for all the criteria.
Over the last few decades, some researchers began differentiating between the different forms of Mast Cell Diseases. A few began individually defining new categories, one of which is called Mast Cell Activation Syndrome or Disorder (MCAS/MCAD).
Although the various forms of Mast Cell Disease may present with some of the same symptoms, and may be treated with the same medications and avoidance of known triggers, the cause of the symptoms is what makes them separate, but related, entities.
Indeed, Mastocytosis and other Mast Cell Disorders are heterogeneous, meaning they can present in many different ways. Ultimately, the cause of each different form of Mast Cell Disease may dictate how they are treated.
What are the Symptoms of Mast Cell Diseases?
What we know about Systemic Mastocytosis is that in many cases, it is a neoplastic disease, meaning that it involves new or abnormal cell growth.
Please note - this may not apply to most cases of pediatric and/or familial Mastocytosis. In this case the cells involved are mast cells, which are normally contained in body tissues. Mast cells release certain mediators, or chemicals, of which one is histamine, into the body in response to certain events.
People with Systemic Mastocytosis develop an increase in the number of mast cells, or they develop abnormally shaped mast cells, which may not function properly. In addition, the mast cells fail to die off when they are supposed to, further increasing the total mast cell burden.
This die off is called apoptosis. Apoptosis is programmed into normal cells, but in people with mast cell disorders, the mast cells may fail to die off, resulting in an increased number of mast cells in the body.
When these mast cells are triggered, they can degranulate, and release their contents all at once, or they can slowly leak their contents in response to a trigger. This can cause many acute and potentially serious symptoms, which include the following:
Abdominal pain
Hives & other rashes
Anaphylaxis
Inflammation of the esophagus
Blood pressure changes & shock
Intestinal cramping and bloating
Bone pain (mild to severe/debilitating)
Itching, with and without rashes
Chest pain
Liver, spleen and other organ involvement
Cognitive difficulties/brain fog
Malabsorption Degenerative disc disease
Migraine headaches
Diarrhea
Muscle pain
Dizziness/vertigo/lightheadedness
Nausea
Faintness
Osteoporosis/ Osteopenia
Fatigue
Peripheral neuropathy and paresthesias
Flushing
Rapid heart rate
Gastroesophageal reflux
Vomiting
Hematological abnormalities
People who have been told they have Mast Cell Activation Syndrome or Disorder (MCAS/MCAD) may have a normal, or nearly normal, number of mast cells. However, their mast cells "behave badly" - that is, they are easily triggered to release their contents, which results in many of the same symptoms that people with Mastocytosis experience.
The danger of anaphylaxis and shock is present with MCAD/MCAS, but unlike Mastocytosis, this syndrome may not have the potential to progress to a more aggressive or malignant stage. Nevertheless, people with either Mastocytosis and MCAS/MCAD can be either very stable or extraordinarily ill on a day-to-day basis, and managing the unpredictability of the Mast Cell Diseases and their symptoms can be quite challenging.
What are Triggers?
Triggers are stimuli that can set off a mast cell response, potentially leading to a mast cell attack. Avoidance of various triggers (things that can set off a mast cell attack) can do much to improve quality of life and reduce the need for medication, but that is often easier said than done, as the triggers can be almost anything, including:
Alcohol
Friction
Anesthetic agents
Heat
Antibiotics
Infection with viruses, bacteria or fungi
Bacteria or fungi
Mold
Certain foods
MSG
Cold
Narcotics
Colors & flavorings in foods
Perfumes
Colors & flavorings in medicines
Pesticides
Emotional upset
Plasma expanders (i.e. dextran)
Environmental toxins
Exercise
Room freshener sprays
Fatigue
Stress
Fever
Sunlight
There is great variation from person to person in what is a trigger, and even within the same person. The triggers may change day-to-day - that is, heat may set off an attack on one day, but not on other days. The above list is not complete, but is meant to show the wide range of triggers that affect mast cells.
Some people with the indolent form of Mastocytosis, and/or people with Mast Cell Activation Disorder or Syndrome, have been told by some physicians that they can expect a nearly normal life expectancy, as long as they keep themselves as stable as possible by avoiding triggers and taking medications as prescribed.
Mast Cell Diseases are extremely unpredictable, and some people can very quickly develop acute symptoms that may require immediate medical attention. That is why it is advisable to stay within range of a medical facility, and to carry a written protocol from your Mast Cell Disease specialist for emergency care.
How Are Mast Cell Diseases Diagnosed?
Mast cell diseases can be diagnosed by:
Blood tests
Bone marrow biopsies with aspirate flow cytometry
Bone scans
Careful evaluation of response to treatment
Radiologic scans
Skin biopsies
How Are Mast Cell Diseases Treated?
While a few people manage to remain stable and healthy by avoiding dietary and environmental triggers, many people with mast cell disease take a medication protocol that involves some or all of the following:
H1 blockers - antihistamines like hydroxyzine (Atarax®), diphenhydramine (Benadryl®), or Doxepin®
H2 blockers - antihistamines like ranitidine (Zantac®) or famotidine (Pepcid®) Leukotriene inhibitors like Singulair®, Accolate®, or Zyflo®
Mast cell stabilizers like oral cromolyn sodium (Gastrocrom®) or Ketotifen (Apo®-Ketotifen, Zaditen®)
In addition, many people require:
A proton pump inhibitor like omeprazole (Prilosec®), esomeprozole magnesium (Nexium®), or lansoprozole (Prevacid®)
Inhaled bronchodilators such as Albuterol (Ventolin®)
Corticosteroids
More aggressive forms of the disease may require the use of chemotherapeutic agents and/or cytoreductive therapies. Further information about the use of these agents in treating mast cell diseases can be found at cancer treatment centers. Thank you for reading this.. Please help us spread the word about Mastocytosis.. If one person tells another person it will help us raise awareness.
You can also help by posting my music contests to help raise awareness on your myspace bulletin board,you could copy information about Mastocytosis from my page and leave it when you are going for a checkup at your Doctor's office. You could have a benefit concert. You could casually tell your friends... Thank you so much.

Heroes:

My son... Dustin...he is able to take a negative and turn it into a positive
Ehlers-Danlos syndrome From Wikipedia, the free encyclopedia
Ehlers-Danlos syndrome
Classification & External resources.
Ehlers-Danlos syndrome is a group of rare genetic disorders affecting humans and domestic animals caused by a defect in collagen synthesis. Depending on the individual mutation, the severity of the disease can vary from mild to life-threatening. There is no known cure. Treatment is supportive.
The disease is named after two doctors, Edward Ehlers of Denmark, and Henri-Alexandre Danlos of France, who identified it at the turn of the 20th century.
Symptoms:
Symptoms vary widely based on which type of Ehlers Danlos Syndrome (EDS) the patient has. In each case, however, the symptoms are ultimately due to faulty or reduced amounts of collagen.
For example, in the most common type of EDS, Hypermobility Type, symptoms often include unstable, flexible joints with a painful tendency to dislocate and subluxate. This is due to ligaments which, because they are lacking proper collagen--the molecule that provides strength to ligaments--are overly stretchable.
The so-called Classic EDS Type features skin that forms cigarette-paper-like scars. Another type of collagen is usually responsible for lending strength to skin (and scars).
The most serious type of EDS, Vascular EDS, can result in premature death via vascular (blood vessel) and organ rupture.
Again, another type collagen is necessary to give strength to the walls of blood vessels and the walls of hollow organs (such as the large bowel, aka colon). (It should be noted that Vascular EDS is also one of the most rare types of the disease.)
See table below for a more extensive list of symptoms for each type of EDS. You will see some cross-over or similarity of symptoms among the various types.
For instance, many of the types feature velvety or hyperextensible skin. In addition, persons with Hypermobility Type often have very stretchy ligements (leading to frequent subluxations/dislocations) while those with Vascular Type have ligaments that rupture.
Classification In the past, there were more than 10 recognized types of Ehlers-Danlos syndrome. In 1997, researchers proposed a simpler classification that reduced the number of major types to six and gave them descriptive names.
These six major types are listed below. Other types of the condition may exist, but they have been reported only in single families or are not well characterized.
Except for hypermobility, the specific mutations involved have been identified and they can be precisely identified by genetic testing; this is valuable due to a great deal of variation in individual presentation of symptoms which may confuse classification of individuals on purely symptomatic basis. In order of prevalence in the population, they are:
Name Number Description OMIM Gene(s)
Classical types 1 and 2 Affects approximately 2 to 5 in 100,000 people. In addition to the joint and cardiac effects noted above for hypermobility, this variant is characterized by soft, highly elastic, velvety skin which may tear, bruise, or scar easily and/or be slow to heal, and which has a tendency to develop benign fatty growths as well as benign fibrous growths on pressure areas. Pregnancy can be life-threatening in this variant.
It affects type-V collagen, as well as type I. 130000, 130010 COL5A1, COL5A2, COL1A1.
Hypermobility type 3 Affects 1 in 10,000 to 15,000 and is caused by an autosomal dominant mechanism. Mutations in either of two separate genes (which are also involved in Vascular EDS and Tenascin-X deficiency EDS, respectively) may lead to this variant; it is the only type of EDS that cannot be diagnosed through skin / tissue samples but is rather diagnosed through use of clinical observations.
Symptoms can include easy bruising, velvety-smooth skin, mildly hyperextensible skin, and loose, unstable joints. Joint dislocations and subluxations are common. Degenerative joint disease can occur; the pain associated with this condition is a serious complication.
Unfortunately, pain medications are frequently underprescribed. Some individuals have mitral valve prolapse, which creates an increased risk for infective endocarditis during surgery, particularly dental surgery, as well as possibly progressing to a life-threatening degree of severity of the prognosis of mitral valve prolapse.
130020 COL3A1, TNXB Vascular type 4 Is an autosomal dominant defect in the type 3 collagen synthesis; affecting approximately 1 in 100,000 people. It is clinically serious, and past studies have placed life expectancy at around 48 years.
However, that number is likely skewed based on the fact that the disease is (as are all EDS types) vastly underdiagnosed, leading to a misleading proportion of people diagnosed being those diagnosed upon death.
Increased awareness among physicians (and the public) will help make this number more accurate and bring down the overall number of premature deaths. Hypermobility is usually limited to the fingers or toes, but the delicate skin noted above is joined by fragile blood vessel walls and organ membranes, with a tendency to rupture or develop aneurysms.
Thin, translucent skin (veins can usually be seen on chest); Arterial/intestinal/uterine fragility or rupture; extensive bruising; characteristic facial appearance (large protruding eyes, small chin, thin nose and lips, lobeless ears).
Due to possibility of uterine rupture, pregnancy can be life-threatening in people with this variant.
130050 COL3A1 Kyphoscoliosis type 6 Is an autosomal recessive defect due to deficiency of an enzyme called lysyl hydroxylase; it is very rare, with fewer than 60 cases reported. Symptoms include progressive scoliosis, progressive severe weakness of muscles, and fragile sclera.
225400, 229200 PLOD1 Arthrochalasis types 7A and 7B Is also very rare, with about 30 cases reported. This variant may result in very loose and unstable joints, including the hips, which may lead to early and/or severe osteoarthritis and fractures, and stretchy, fragile skin. It affects type-I collagen
130060 COL1A1, COL1A2 Dermatosparaxis type 7C Also very rare, with about 10 cases reported. This variant combines the loose and unstable joints with extremely fragile skin which loses elasticity.
225410 ADAMTS2While the above symptomatology is clean and defined the disease itself rarely obeys these neat categorizations. Cross-over symptoms for all types are prevalent and lead to under-diagnosis or mis-diagnosis.
No patient should assume or rely on the "fact" they have a certain type of EDS when cross-over symptoms are evident and can be life-threatening.
"The large number of distinct types of the Ehlers-Danlos syndrome that have already been identified indicates great heterogeneity, but clearly that heterogeneity is not exhausted by the present classification.
Examples of types of related syndromes other than those above reported in the medical literature include:
305200 -- Type 5 130080 -- Type 8 - unspecified gene, locus 12p13 225310 -- Type 10 - unspecified gene, locus 2q34 608763 -- Beasley-Cohen type 130070 -- Progeroid form - B4GALT7 606408 -- Due to Tenascin-X deficiency - TNXB 130090 -- Type unspecified
Genetics
Mutations in the ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1 and TNXB genes cause Ehlers-Danlos syndrome.
Mutations in these genes usually alter the structure, production, or processing of collagen or proteins that interact with collagen. Collagen provides structure and strength to connective tissue throughout the body. A defect in collagen can weaken connective tissue in the skin, bones, blood vessels, and organs, resulting in the features of the disorder.
Inheritance patterns depend on the type of Ehlers-Danlos syndrome. Most forms of the condition are inherited in an autosomal dominant pattern, which means only one of the two copies of the gene in question must be altered to cause the disorder. The minority are inherited in an autosomal recessive pattern, which means both copies of the gene must be altered for a person to be affected by the condition.
Please refer to the summary for each type of Ehlers-Danlos syndrome for a discussion of its inheritance pattern.
Epidemiology
brThe overall prevalence of all types of Ehlers-Danlos syndrome may be about 1 in 5,000 births worldwide. The prevalence of the six types differs dramatically. The most common are the hypermobile forms (the classical and hypermobility types). Other forms are very rare.
For example, fewer than 10 infants and children with the dermatosparaxis type have been described worldwide. It affects both males and females of all racial and ethnic backgrounds.
Thank you for reading this.. Please help us spread the word about Ehlers Danlos Syndrome. If one person tells another person it will help us raise awareness.
You can also help by posting my music contests to help raise awareness on your myspace bulletin board,you could copy information about Ehlers Danlos Syndrome from my page and leave it when you are going for a checkup at your Doctor's office. You could have a benefit concert. You could casually tell your friends.
Thank you so much.
Patricia&Dustin
EDS-like symptoms in animals.
Ehlers-Danlos-like syndromes have been shown to be hereditary in Himalayan cats, some domestic shorthair cats and in certain breeds of cattle. It is seen as a sporadic condition in domestic dogs.
br.Please help us pread the word about Ehlers Danlos Syndrome.