USA Fabry Awareness Club

USA Fabry Awareness Club

MissIn 1990, I lost my father Dennis Earl Milligan. I lost my Unlce William Alton Milligan in 1992. They both were on Diaylsis. They both went to same doctor office but seen different doctors. My Uncle was tested in the early 1980's for Fabry in Charleston, SC. My Grandma Euduelle Milligan lived to be 84. She never recieved any medical care to treat her Fabry. She died a slow and pain death. My family was not educated nor knowing how serious the disease. Fabry is a Genetic Disease. A father with Fabry will automatic pass the gene to a daughter but a father can't pass the gene to a son. A woman with Fabry use to be just called "Carriers" the Fabry Community has fault to change the label against a woman Fabry. A woman has 50/50 change to passing the gene to each child they bare. The early Fabry is caught the better treatment can be as the child grows. I have a daughter Hannah Angelica Gonzalez age 12; she chose to do Clinical Trials for Shire's Company out Canada because we had a serious short of Americans getting treatment of the drug of Fabrayzme (made here in the United States but shipped to other countries). Now Hannah is doing treatment at Duke of Fabrayme Infusion. The Shire's infusion took only 45 when bag was hanged now her treatments last between 6-8 hours. With out treatment she would be able to function. I have a 4 month old Autumn Heavenleigh Gonzalez. She was born at Duke. Her screening for Fabry was done at birth. Hannah and my screening for Fabry was done at Mt. Sinai Hopital in New York. Fabry Disease does not just effect the Kidney. For a male of Fabry; if he does not recieve treatment they have done a life time chart in late 30's and into the 40's he will be on dialysis. Male seem to have early death without proper care. Can you look at someone and say they have Fabry? Depends on health coniditon how far progression of the disease has gone but for some; "NO!" For years I spent time and money for co-pay and my health paid medicals that was a waste. Misdiagnosis. Made to feel your a lier, or are a Munchausen by proxy syndrome (MBPS) person or are malingering and do get told it is all in your head. First thing a doctor does that doesn't know of Fabry after you've been in the office off and no with same symptoms and news one, right off a prescriptions and tell you go see a shrink. When you know something is wrong with yourself or your child and you will become desprate for answers. What is Fabry disease? Fabry disease is a rare genetic disorder caused by a defective gene (GLA) in the body. In most cases, the defect in the gene causes a deficient quantity of the enzyme alpha-galactosidase A. This enzyme is necessary for the daily breakdown (metabolism) of a lipid (fatty substance) in the body called globotriaosylceramide or GL-3. When proper metabolism of this lipid and other similar lipids does not occur, GL-3 accumulates in the majority of cells throughout the body. The resulting progressive lipid accumulation leads to cell damage. The cell damage causes a wide range of mild to severe symptoms including potentially life-threatening consequences such as kidney failure, heart attacks and strokes often at a relatively early age. Fabry disease is described as a progressive, destructive and potentially life-threatening disease. Fabry disease can affect males and females of all ethnic and cultural backgrounds. How is Fabry disease inherited? Fabry disease is inherited in a X-linked manner. This refers to the location of the gene for the enzyme alpha-galactosidase A, which is found on the X chromosome. The X and Y chromosomes, two of the 23 pairs of chromosomes in the human body, among many other functions determine the sex of an individual. Females have two X chromosomes. Males have one X chromosome and one Y chromosome. Affected males pass their one affected X chromosome to all of their daughters. In this way, all daughters of affected males are considered "obligate carriers" of the gene for Fabry disease. This is assuming paternity is not of concern. Whether or not a female is so-called "affected" by Fabry disease must be determined on an individual basis. Some females are as affected by the symptoms of Fabry disease as severely as a male with the classic form of the disease, while others may be seemingly asymptomatic or only experience mild symptoms, or an individual exhibit any variation of symptoms in between. Researchers and treating physicians have learned in recent years, however, that females without symptoms is the exception rather than the rule. A very high percentage of females carrying the Fabry disease gene are affected and have significant disease symptoms warranting treatment with Enzyme Replacement Therapy. Affected males do not pass the Fabry disease gene to any of their sons; sons receive their father's Y chromosome and therefore, a son cannot inherit Fabry disease from an affected father. Every time a carrier female has a child, there is a 50% chance that she will pass her affected X chromosome to the child, and a 50% chance that she will pass her normal X chromosome to the child. This means that there is a 50% chance that every daughter born to a carrier female will inherit the affected X chromosome and will be a carrier (and possibly symptomatic/affected) for Fabry disease. There is a 50% chance that every son born to a carrier female will inherit his mother's affected X chromosome, and will therefore, be affected with Fabry disease. Fabry Disease Symptoms List The many signs and symptoms of Fabry disease vary from signs that usually do not have physical health impacts such as angiokeratoma (skin lesions) and corneal opacities (whorling or streak-like cloudy patterns in the eye) to very severe symptoms such as heart attacks, strokes, and kidney failure. While the age of onset, progression, severity, and health implications can vary significantly, the symptoms listed here are very common for most individuals with Fabry disease. The many common symptoms of Fabry disease include: ■Numbness, tingling, burning or other abnormal sensations especially in the hands and feet (acroparesthesias) ■Pain attacks/crises: pain attacks which can last from short to very long durations and can be mild to disabling. These attacks may be accompanied by body aches, fever, and fatigue. ■Fevers often resulting in clinic/hospital visits especially in but not limited to childhood ■Frequent overall body ache or discomfort ■Intolerance to physical activity ■Mild anemia ■Frequent and/or chronic fatigue ■Hot and cold temperature intolerance ■Reduced or absent sweating (hypohidrosis or anhidrosis respectively) often resulting in overheating with exertion ■Swelling (edema) in the lower legs, ankles and feet often without clinical symptoms of heart or kidney problems ■Corneal or lenticular opacities - streaked or whorled opaque/cloudy pattern on the cornea and sometimes on the lens of the eye (Corneal verticillata and Fabry cataracts) ■Small, sometimes clustered, slightly raised red or reddish-purple skin lesions (angiokeratoma). Often concentrated in but not limited to the bathing suit and trunk areas. ■Gastrointestinal issues - frequent mild to severe diarrhea, flatulence, bloating, stomach or intestinal pain and cramping ■Early satiety (feeling full sooner than normal or after eating less than usual), food intolerance, and difficulty gaining weight ■Obstructive or constrictive lung disease often evidenced by wheezing, chronic cough, shortness of breath or labored breathing (dyspnea), recurring bronchitis and fatigue (often diagnosed as obstructive pulmonary disease) ■Ringing in the ears (tinnitus), and progressive or sudden hearing loss ■Weakness, lightheadedness, dizziness, vertigo (spinning dizziness) and headaches from neurological damage, and other cerebrovascular disease impacts ■Peripheral neuropathy (damage to the peripheral nervous system) which causes or exacerbates many other Fabry disease symptoms ■Transient Ischemic Attacks (TIAs), usually referred to as mini-strokes, that are usually short in duration ■Strokes (often at an abnormally early age) ■Impaired kidney function and kidney failure usually without diabetes ■Kidney Dialysis and Transplant ■Heart complications such as arrhythmias (generally abnormalities in the heart's rate or rhythm including atrial fibrillation); left ventricular hypertrophy (LVH)/enlarged heart often without high blood pressure; and malfunctioning heart valves ■Heart attacks and heart failure Because of the progressive, destructive and potentially life-threatening nature of Fabry disease, early identification, evaluation and diagnosis are critical to the health and well-being of individuals with this disease. The symptoms of this disease are varied but quite well defined and seem quite clear to a physicians, genetic counselors, nurses, other healthcare providers, and individuals with Fabry disease who are involved with the disease on a routine basis. However, to the healthcare providers and other individuals without more intimate knowledge of this rare disease, recognizing Fabry disease is like looking for a needle in a haystack. Connecting all of the dots (symptoms) and recognizing the disease to enable evaluation and diagnosis is often difficult. Once an individual is suspected to have Fabry disease, evaluation and testing must occur to confirm whether the Fabry gene is present. If the Fabry gene is present, a determination must be made as to the appropriate course of action for evaluation, monitoring, management, and treatment. Individuals aware they carry the Fabry gene versus the individuals suffering from a diminished quality of life for an unknown reason are significantly better able to cope with their disease. There are still thousands of people suffering and dying from Fabry disease at an early age who are unaware of the reasons why. Please help change this of losing family memeber and friends too Fabry. We have a get National Fabry Foundation created by Jerry Walter. He is the oldest living male with Fabry. He has decidated his time to bring more awareness to the Fabry Community. He help bring families together at Victory Junction in NC. For myself, I designed the Fabry Awareness Ribbon. There is already States testing for Fabry please help pass the law to have Newborn Screening in North Carolina. Who named Fabry? What are other names that Fabry is called and known as: Anderson-Fabry disease Alternative eponyms •Anderson’s syndrome •Anderson-Fabry syndrome •Fabry’s syndrome •Fabry-Anderson disease •Morbus Anderson-Fabry •Ruiter-Pompen syndrome •Ruiter-Pompen-Wyers syndrome •Sweeley-Klionsky disease or syndrome Related people •William Anderson •Johannes Fabry •Bernard L. Klionsky •Arnold Willem Maria Pompen •Maximillian Ruiter •Charles C. Sweeley •Herman Joseph Gerard Wyers A rare, inherited metabolic disease in which a glycolipid, ceramide trihexoside, accumulates in blood vessels, as well as in numerous tissues and organs. Description A rare, inherited metabolic disease in which a glycolipid, ceramide trihexoside, accumulates in blood vessels, as well as in numerous tissues and organs. The excessive amounts present in the kidneys and other organs impairs their function. Due to absence of æ-galactosyl hydrolase. Patients present with the skin lesions, small red spots seen on the lower abdomen, thighs and scrotum, corneal opacities, episodes of fever, primary aparasthesia of the extremities and peripheral oedema and renal failure. Prevalent in males, who present full-blown syndrome, females may present a partial form. Symptoms start in childhood or at puberty. Death usually occurs in adulthood. Family history. An X-linked syndrome with complete penetrance and variable clinical expressivity in males. Female carrier asymptomatic. The disturbance was first described in 1898 by Fabry in Germany and Anderson in England. Anderson's patient was a male aged 39 years who had an eruption on his trunk, genitals and proximal limbs. He recorded that the patient had been afflicted since childhood and that varicose veins, rectal bleeding and albuminuria had developed. Anderson termed the condition "angiokeratoma" and suggested that there might be generalised changes in the vascular system. Fabry conducted independent studies of an affected boy. In his article Fabry used the designation "purpura haemorrhagica nodularis". A further case was recognised in Egypt by Frank Cole Madden (1873-1929) in 1912 and the condition was mentioned again by Fabry in 1915 under the title "Angiokeratoma corporis naeviforme". Fabry retained his interest in the disorder and published the autopsy findings after his patient's death in 1930. How common is Fabry disease? Fabry disease is a rare genetic disorder. The most common U.S. statistics referenced in published literature indicates that Fabry disease is present in 1 in 40,000 to 1 in 50,000 males. Due to the greater complexity of determining the occurrence in females and because we are not aware of any published studies, the occurrence in females is not specifically stated. However, the population of known affected females is rapidly increasing over original expectations due to better understanding of the random nature of disease manifestations in females. Estimated cases in the United States based on currently published statistics: According to the census bureau's population estimates and the estimated prevalence of Fabry disease, there are approximately 3,800 males with Fabry disease in the U.S. Based on Hardy-Weinburg principles of genetic frequency and the estimated male population, there may be an estimated 7,600 females that carry the Fabry gene but an unknown number of females affected (having significant symptoms) by the disease. These estimates put the number of individuals carrying the Fabry disease gene in the U.S. at over 11,000 according to currently published statistics. However, based on newborn screening studies in two countries, Italy and Taiwan, we believe there are really about 50,000 people in the U.S. with Fabry disease including classic and late-onset forms of the disease. Medical literature is littered with references to the unrecognized and undiagnosed nature of Fabry disease. It is tragic that such a low number of people with Fabry disease have been recognized, diagnosed and provided the opportunity for treatment. Physican and family education is critical to enable individuals unknowingly living with Fabry disease to live better and longer lives. It is sad when you are the parent or the patient and you have to tell your doctor the education on Fabry. You have to make plans with your childs school for things they can't do. We have children on pain medicine going to class. My daughter Hannah has missed over 30 days of school but she is a person say; "she has Fabry but Fabry doesn't have her"; she is determined to live life to the fullest. Please don't let another human life far through the cracks; when it can be saved at the start of their life. Just a simple stick and lab draw could save a life and save insurance cost on going to doctors. Save on prescription that can do more harm with person with Fabry. Or the expense of having some one on Diaylsis. If you go into a Children's Hospital and did tour your heart would change. To make a change in the Fabry Community is standing United together. If I could I would scream from the highest mountion. Fabry will make you fall to your knee's cause you don't understand the why's or in our minds we do ask how long do I have to live? Thinking of your child the pain and suffer the diease causes them and all things they miss out on. Fabry is killing disease and it also is a killer to the happiness of a human. If you like more reading material please to www.fabrydisease.org (The National Fabry Disease Foundation) and on facebook we have support groups: Fabry's Disease Info and Support and Fabry Disease Support and National Fabry Disease Foundation (NFDF)and my page USA Fabry Awareness Club. Read some of their stories of daily life. Please sign my Petition to have North Carolina to change the law for Newborn Screening for Fabry Disease. Please unborn and other peoples lives depend on a change. Our voices are the best Awareness. Thanks on behalf of Ann & Hannah & Orlando Autumn & Glendon and the Milligan Family memeber for ones we have lost due to Fabry.

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