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    Archived pages: 26 . Archive date: 2013-12.

  • Title: Galactosemia Foundation - index
    Descriptive info: .. Linked for Life.. About Us.. Newsletter.. Understanding Galactosemia.. Research.. Fundraising.. Foundation News.. Event Calendar.. DONATE NOW!.. 2014 Conference.. News from the Foundation.. Sat.. June 15th, 2013.. Race for Jase - Crosslin Park, Enid, Oklahoma.. - More.. Sept 14th, 2013.. Keegan's Kause Texas Hold'em Fundraiser - O'Fallon, IL.. Oct 19th, 2013.. Presley's Promise 3k Run/Walk for Galactosemia - Indian Acres Park, Marietta, OH.. Sun.. Dec 15th, 2013..  ...   International Conference.. Mission Statement.. To educate, support and provide advocacy for those affected by Galactosemia.. To network with professionals to inspire the treatment and advanced research of Galactosemia.. |.. Donate Now!.. Privacy Policy.. Subscribe to our Newsletter.. Copyright 2013 Galactosemia Foundation.. The Galactosemia Foundation P.. O.. Box 2401 Mandeville, Louisiana, 70471 | Phone: 1 866.. 900.. 7421.. Find us on.. Web.. Site.. GoodSearch keywords to search for..

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  • Title: Galactosemia Foundation - Join Newsletter
    Descriptive info: Subscribe to the Galactosemia Foundation Newsletter.. How would you like to receive our news letter?.. paper(U.. S.. Mail),.. digital(Email) or.. both.. Email Address.. Name.. Last.. First.. Address 1.. Address 2.. City.. State.. Alabama.. Alaska.. Arizona.. Arkansas.. California.. Colorado.. Connecticut.. Delaware.. District Of Columbia.. Florida.. Georgia.. Hawaii.. Idaho.. Illinois.. Indiana.. Iowa.. Kansas.. Kentucky.. Louisiana.. Maine.. Maryland.. Massachusetts.. Michigan.. Minnesota.. Mississippi.. Missouri.. Montana.. Nebraska.. Nevada.. New Hampshire.. New Jersey.. New Mexico.. New York.. North Carolina.. North Dakota.. Ohio.. Oklahoma.. Oregon.. Pennsylvania.. Rhode Island.. South Carolina.. South Dakota.. Tennessee.. Texas.. Utah.. Vermont.. Virginia.. Washington.. West Virginia.. Wisconsin.. Wyoming.. Zip..

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  • Title: Galactosemia Foundation - About Us
    Descriptive info: Who.. Galactosemia Foundation, formally, Parents of Galactosemic Children, Inc is a non-profit charitable organization.. Founded in February 1985 by a small group of mothers in New York, the Galactosemia Foundation realizes the need for further information and networking between affected families and professionals.. Metabolic Clinics across the nation continue to assist the Galactosemia Foundation in researching families and information.. Today our mailing list includes over 1,000 families and extended families, professionals and clinics, media groups, donors, and numerous international contacts.. Objectives and functions are achieved by unpaid volunteers.. The Galactosemia Foundation.. P.. Box 2401.. Mandeville, Louisiana, 70471.. Mission & Objectives.. To network with professionals to inspire the treatment and advanced research of Galactosemia.. Board.. Michelle Fowler, President,.. president@galactosemia.. org.. Scott Shepard, Vice President,.. vicepresident@galactosemia.. Paul Fowler, Treasurer,.. treasurer@galactosemia.. Diane Flynn-Brake, Secretary,.. secretary@galactosemia.. Andrea Topper - Board Member 1 -.. boardmember1@galactosemia.. Scott Saylor - Board Member 2 -.. boardmember2@galactosemia.. Theresa Boehm - Board Member 3 -.. boardmember3@galactosemia.. Teams.. Conference Team.. conference@galactosemia.. TBA.. Fundraising Team.. fundraising@galactosemia.. Board Contact: Paul Fowler.. paulfowler1@bellsouth.. net.. Team Leader: Denise Wilburn.. acredwilburn@gmail.. com.. Team Members: Mark Southard, Jenn Newell.. The purpose of the Fundraising Team is to stimulate Fundraising interest in fundraising.. This team will provide support to those planning a fundraiser and offer guidelines, proven strategies, and ideas to raise money for PGC.. The Fundraising Team process and procedures shall be:.. Provide clear examples of fundraisers: simple to elaborate.. Provide detailed templates and “how-to” packets on successful fundraising.. Market (in newsletters, at conference, on web, etc.. ) successful fundraising stories to inspire everyone to participate.. Be aware of who is fundraising and where.. Support those planning a fundraiser.. Establish a data base of past and future fundraisers.. The Fundraising Team Leader shall oversee and coordinate with others to ensure goals are met.. The Fundraising Team will be served by people who are ready to make a difference in the lives of those affected by Galactosemia.. The team is comprised of those who understand we must support PGC with money to fund our objectives or it will cease to exist.. Team members must share a passion to support research and know that no one is going to hand us a treatment or cure for Galactosemia, we must actively find it.. If you are interested in fundraising and would like to be an ACTIVE member of the Fundraising Team please contact Denise Wilburn.. acredwilburn@att.. You DO NOT have to prove previous fundraising to be a member, just a desire to make fundraising important and “doable” to others (and hopefully a willingness to fundraise in the future)..  ...   reach to families, friends, medical professionals, donors and sponsors, we have created a world class website and Facebook page.. Please join us in starting conversations with readers like you to forge an even stronger galactosemia community.. After all, galactosemia has linked us for life!.. Team Members: – Diane Flynn-Brake & Mark Southard.. Click on the link below to view our facebook page.. Galactosemia Foundation on Facebook.. Outreach Team.. The Outreach Team has been created to promote Galactosemia awareness and support new families and members of the Galactosemia Foundation.. Our goal is to make the transition to a Galactosemic life easier for new families in the future, and to form a lasting support group for all who seek it.. The Outreach Team is often the first contact for new families.. On behalf of the Galactosemia Foundation, we provide education, reassurance and comfort to new families learning how to live with Galactosemia.. The Outreach Team is committed to communicating with and connecting new families via the Galactosemia Foundation.. The Outreach Team is served by several passionate individuals who have a wide range of experience with Galactosemia and are dedicated to helping others.. Please contact any of our team members for more information, or to find your local state contact.. Board Contact:.. Andrea Topper,.. atopper@optonline.. Team Leaders:.. Jeremy & Robyn Meek,.. meekfamily1@gmail.. Research Team.. research@galactosemia.. The Galactosemia Foundation funds a broad range of research to lead to improvements in the lives of people with Galactosemia.. This grants program provides support to practitioners conducting medical and scientific research involving the metabolic disorder Galactosemia.. Research funded by this grant program shall include, but not be limited to, research about Galactosemia involving nutrition, diet, speech, physical and occupational therapy, premature ovarian failure, and other research.. The research team reviews eligible proposals for research grants and is responsible for the administration of the grant program.. The Research team submits their recommendations to the Board a complete analysis of all applications and includes its recommendation for rewards for the grant monies.. All grant and fellowship applications are subjected to a rigorous research committee review process.. Applicants are critiqued on scientific merit and relevance to PGC research priorities.. The Galactosemia Foundation complies with all relevant state and federal equal opportunity and discrimination laws and regulations.. All institutions awarded funds from PGC must comply with relevant state and federal equal opportunity and discrimination laws and regulations.. Dan and Nancy Lambert,.. Policies and Procedures for Research Grants.. View our events calendar.. Foundation Bylaws.. Download the Galactosemia Foundation Bylaws (PDF).. About Galactosemia Foundation.. Click to Jump to Section Below.. Objectives..

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  • Title: Galactosemia Foundation - Newsletter
    Descriptive info: Download the Latest Issue (PDF).. Archives.. 2013.. 2013 Fall Newsletter.. 2013 Spring/Summer Newsletter.. 2012.. 2012/2013 Winter Newsletter.. 2012 Conference.. 2011.. 2011 Fall/Winter.. 2011 Spring/Summer.. 2010.. 2010 Fall/Winter.. 2010 Spring/Summer.. 2009.. 2009 Fall/Winter.. 2009 Spring/Summer.. 2008 Earlier.. 2008 Fall/Winter.. 2007 Newsletter.. 2006 Newsletter.. 2004 Newsletter.. 1999 Newsletter.. Newsletter.. Latest Newsletter.. Archive.. 2008 Older..

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  • Title: Galactosemia Foundation - Understanding Galactosemia
    Descriptive info: Classic Galactosemia/Duarte Galactosemia/Galaktokinase Deficiency.. What is Classic Galactosemia?.. Classic Galactosemia is a rare genetic metabolic disorder.. The child with classic galactosemia inherits a gene for galactosemia from both parents, who are carriers.. Patients who inherit the classic galactosemia gene from each parent are sometimes described as having the genetic makeup "G/G".. Normally when a person consumes a product that contains lactose (e.. g.. , dairy products such as milk, cheese, butter), the body breaks the lactose down into galactose and glucose.. Glucose is the sugar used by the body for energy.. Galactosemia means too much galactose in the blood caused by the individual "missing" the enzyme (known as GALT) to convert galactose into glucose.. This accumulation of galactose is a poison to the body and can cause serious complications such as the following and if untreated, as high as 75% of infants will die:.. an enlarged liver.. kidney failure.. cataract.. brain damage.. Diagnosis is made usually within the first week of life by blood test from a heel prick as part of a standard newborn screening.. Treatment requires the strict exclusion of lactose/galactose from the diet.. Although galactosemic children are started on diet restriction at birth, there continues to be a high incidence of long-term complications involving speech and language, fine and gross motor skill delays and specific learning disabilities.. Ovarian failure may occur in girls.. Prenatal diagnosis by amniocentresis is also available.. What is Duarte Galactosemia?.. Duarte Galactosemia is a variant of classic galactosemia.. Fortunately, the complications associated with classic galactosemia have not been associated with Duarte galactosemia.. The child with Duarte galactosemia inherits a gene for classic galactosemia (G) from one parent, and a Duarte variant gene (D) from the other parent.. Patients with this genetic make-up are frequently referred to as D/G galactosemics.. Diagnosis of Duarte galactosemia is made usually within the first weeks of life by the same blood test used to diagnose classic galactosemia.. Galactose-1-phosphate uridyltransferase (GALT) enzyme activity in D/G patients is approximately 25%-50% of that found in children born with no galactosemia gene.. There is some disagreement over the need for dietary restriction in the treatment of children with Duarte galactosemia.. Consult your medical advisors (preferrably a pediatric metabolic geneticist) for their advice on this topic.. Dietary Options include :.. restricting lactose / galactose in the diet for a year or so then gradually introducing these items and testing for the patient's response (i.. e.. elevation of galactose-1-phosphate (Gal-1-P) levels in patient's blood).. no restrictions at all, to include breastfeeding infants.. There is no research that conclusively reveals medical or other developmental complications attributable to Duarte galactosemia in D/G patients.. What is Galaktokinase Deficiency?.. In humans, inherited deficiency of Galactokinase (GALK) enzyme activity caused by deleterious mutations in the human.. GALK1.. gene can lead to a disorder called Type II Galactosemia.. If untreated, the patients will accumulate high levels of galactose and galactitol in their body tissues.. But unlike the more debilitating Type I (GALTdeficiency) Galactosemia, the disease phenotypes of patients with GALK deficiency are often mild and limited to juvenile cataract formation.. This clinical observation has recently been confirmed by a long-term study published by Dr.. J.. B.. Hennermann and coworkers, where they followed the outcome of 18 newborns diagnosed with GALK deficiency through newborn screening programs between 1991 and 2010.. The most effective treatment for GALK deficiency is the implementation of galactose-restricted diet.. The earliest case of Type II Galactosemia was reported by Dr.. R.. Gitzelmann in 1965 and the latest review for the disease was written by Dr.. A.. M.. Bosch and coworkers in 2002.. The frequency of GALK deficiency varies among different population and ranges from 1 in 200,000 to 1 in 40,000, with highest incidence reported in the Romani population where the carrier frequency is estimated to be 1 in 47.. To date, more than 30 mutations in the.. gene residing in chromosome 17q24 have been reported, and all of them were transmitted from parents to their children through the autosomal recessive mode of inheritance.. Thanks to the efforts of Drs.. D.. J.. Timson, R.. Reece, H.. D.. Park, and H.. Holden, the three-dimensional structure of the human GALK enzyme has been deciphered, and many of the mutations of the.. gene have been shown to result in mutant enzymes with decreased solubility and specific activity.. Among the characterized mutations, the A198V mutation appears to have the best outcome, with only moderate incidence of cataracts in later life.. Although inherited GALK deficiency can lead to cataract formation in Type II Galactosemia, pharmacological inhibition of the human GALK enzyme to create an artificial GALK-deficiency state has been suggested by Drs.. Bosch, J.. Fridovich- Keil, K.. Lai, A.. Marabotti, and D.. Timson as a potential improved therapy for Classic Galactosemia (Type I or GALT-deficiency Galactosemia).. Additionally, inhibition of.. gene expression has recently been proposed.. Genetics of Galactosemia/History of Galactosemia.. Genetics of Galactosemia.. A person unaffected by galactosemia (neither carrier nor galactosemic) inherits two ‘normal' genes for the production of the GALT enzyme (the enzyme needed to convert galactose into a form useable by the body).. This person's genotype would be N/N and their enzyme activity would be normal.. A person who is a carrier of classic galactosemia inherits one normal gene from one parent and one gene containing the error that leads to classic galactosemia from the other parent.. This person's genotype would be G/N and their enzyme activity would be less than normal, but not so much so as to cause medical complications or require dietary management.. A person who is classic galactosemic inherits two genes with the error, one from each of his/her parents.. This person's genotype would be G/G and their enzyme activity would be essentially zero.. Genotypes involving the Duarte variant gene include:.. D/N = carrier of Duarte galactosemia (about 75% enzyme activity).. D/D = homozygous carrier of Duarte galactosemia (about 50% enzyme activity).. D/G = Duarte galactosemia (about 25 - 50% enzyme activity ??).. History of Galactosemia.. Galactosemia was first "discovered" in 1908.. Von Ruess, in a 1908 publication entitled, "Sugar Excretion in Infancy," reported on a breast-fed infant with failure to thrive, enlargement of the liver and spleen, and "galactosuria".. This infant ceased to excrete galactose through the urine when milk products were removed from the diet.. The infant, however, later died because of other complications (the baby had been given tea laced with cognac as treatment as well).. An autopsy revealed cirrhosis of the liver, which they thought was due to the infant's alcohol ingestion.. Though confirmation of the diagnosis was not possible at that time, it has been generally accepted that Von Ruess was the first to report on a patient with galactosemia.. By 1917, "galactosuria" was a broadly recognized inherited disorder and was treated by removal of milk products from the diet.. The disease was first recognized and described in detail (ie published work) in 1935 by Mason and Turner.. Leloir worked out the metabolic pathway and the process of sugar-nucleotides and won the Nobel prize in Chemistry in 1970 for his work.. He and coworkers elucidated the pathway for converting galactose to glucose in the early 50's.. Although, the clinicians recognized galactosemia very early in the century, the defective gene that caused it wasn't found until 1956.. Another major break-through was when it was first found to be detectable through a newborn screening method in 1963.. This method was developed by Guthrie and Paigen.. Galactosemia was the second disorder found to be detectable through newborn screening methods by Robert Guthrie.. Diet Resources.. Sources of Diet Guidelines.. Unfortunately, the classic galactosemic diet is a controversial one.. Different clinics, doctors, and parents follow different rules.. Below is a list of diet guides that some parents follow.. You can get these guides from your doctor/clinic/nutritionist.. Please check with your own clinic for diet advice.. It is important to follow your own doctor's advice, because what one clinic recommends for diet may not be what another recommends.. We understand the frustration this brings and this is why we encourage all parents to gather as much information as they can, work with their clinic, so that they can make the best possible decision they can for their own child.. 1) Understanding Galactosemia A Diet Guide.. Linda Gleason, MS, RD.. Matthew Rasberry, RD.. Sandy van Calcar, PhD, RD.. Download "Understanding Galactosemia A Diet Guide" (PDF).. 2) A Guide for the Family of the Child With Galactosemia.. The Ross Metabolic Formula System, Ross Laboratories.. Medical Editor: Phyllis B.. Acosta, Dr.. PH, RD.. Galactosemia Food Information Cooperative Web Site.. A web site created and maintained by parents of children with galactosemia for parents of children with galactosemia.. This site contains information contributed by many parents who deal with the galactosemic diet on a daily basis.. It is not a replacement for label reading, but it can certainly reduce the amount of time hunting for products in the grocery store aisles.. Includes sections on acceptable manufactured foods, menus, recipes, manufacturer contact information, and even a section on suggestions for various holidays.. Check it out, then send in YOUR contributions !!.. Note - the material on the Galactosemia Food Information Cooperative Website was not created by Galactosemia Foundation.. Other Diet Links.. To view the Other Diet Links please review and accept our disclaimer agreement.. WARNING TO PARENTS OF GALACTOSEMIC CHILDREN ABOUT DIETS FOR LACTOSE INTOLERANT PATIENTS:.. Some diets for Lactose Intolerant patients allow foods with small amounts of lactose as many lactose intolerant individuals may ingest small amounts of lactose without clinical signs.. NO  ...   in developing certain skills.. Because children show natural differences in their rate of development, sometimes what seems to be a learning disability may simply be a delay in maturation.. By law, learning disability is defined as a significant gap between a person's intelligence and the skills the person has achieved at each age.. (Source: NIMH -National Institute of Mental Health - for more information see their web page at.. www.. nimh.. nih.. gov.. ).. Learning Disabilities and Galactosemia:.. Although know one really knows exactly why, there have been some specific learning disabilities associated with classic galactosemia.. (note - there have been no learning disabilities positively associated with Duarte Galactosemia).. Even some children who were diagnosed relatively quickly after birth and who are following the "restricted diet" have developed learning disabilities.. Some of the learning disabilities associated with galactosemia include: speech and language difficulties, fine and/or gross motor difficulties, and difficulty with math or reading in school.. Unfortunately, there are no firm numbers to quantify the percentage of galactosemics who experience learning disabilites.. It is important to know that not all children with galactosemia have learning disabilities.. Because many galactosemic children do have problems, it is something very important to be aware of in observing a child's development.. One aspect of learning disabilities and galactosemia that is important for parents to keep in mind is that neurological impairments (e.. fine motor difficulties) can sometimes present themselves "disguised" as a learning disability.. For example, a child with trouble writing numerals or pointing may appear to have a learning disability with regard to arithmetic concepts, when the case may well be that the child understands the math concept just fine, but simply cannot control his/her writing sufficiently well enough to demonstrate mastery of the concept.. It is important to note that a child may in fact have both problems.. Questions:.. How do I know if my child has a learning disability? (Ages 0 - 3).. Because every child develops differently, this can be a difficult question to answer.. Your child's pediatrician should be your first source of information.. He or she should be able to, with your input, notice any signs of problems in your child's development.. Be sure to inform your doctor of the types of problems that have been associated with galactosemia.. (Because galactosemia is very rare, your doctor may know very little, if anything, about galactosemia).. If he/she knows what to "look for", it can be very helpful to him/her.. Also, sometimes parents know best, so if you suspect a problem, and your doctor does not agree with you, get a second opinion.. Research shows that the earlier a problem is treated, the better it is for the child.. Remember to keep in mind that children develop at different rates - learning disability is defined as a significant gap between a person's intelligence and the skills the person has achieved at each age.. What kind of services should I get for my child if I suspect a developmental problem or learning disability?.. Many local school systems offer free programs for young children (infants and toddlers) as well as for older children.. You can call your local school system to ask for an evaluation for your child and/or to ask that your child be put into a program that would be appropriate for him.. If you are unable to get services form you local school system, try a private therapist/teacher or institution.. Some medical insurance companies may pay for all or part of these services.. Check with your own policy.. Some helpful WWW resources:.. National Institute of Mental Health - NIMH.. (This site contains a great deal of information about learning disabilities.. ).. ldonline.. (This site contains an interactive guide to learning disabilities for parents, teachers, and children.. National Center for Learning Disabilities.. "The National Center for Learning Disabilities provides national leadership in support of children and adults with learning disabilities by providing information, resources, and referral services; developing and supporting innovative educational programs, seminars, and workshops; conducting a public awareness campaign; and advocating for more effective policies and legislation to help individuals with learning disabilities".. Learning Disabilities Association.. "Our purpose is to advance the education and general welfare of children and adults of normal or potentially normal intelligence who manifest disabilities of a perceptual, conceptual or coordinative nature".. Kidshealth.. A link to web articles about IEP's.. Wrightslaw.. You'll find hundreds of articles, cases, newsletters, and other information about special education law and advocacy in the Wrightslaw Libraries.. Parents, advocates, educators, and attorneys come to Wrightslaw for accurate, up-to-date information about advocacy for children with disabilities.. Neurological Impairments.. Along with well documented speech and language disorders, neurodevelopmental delays are also sometimes observed in galactosemic patients.. By some estimates, galactosemics experience trouble with gait, balance, and fine motor tremors in anywhere from 13 to 20 %.. In one study, 45 individuals with galactosemia were examined.. In that study, 12 individuals were observed to have neurological symptoms that included ataxia, tremors, and dysmetria.. Ataxia is a total or partial inability to coordinate voluntary bodily movements (as in walking, etc.. Tremors are rhythmic, involuntary muscular contractions characterized by oscillations (to-and-fro movements) of a part of the body.. The most common of all involuntary movements, tremor can affect various body parts such as the hands, head, facial structures, vocal cords, trunk, and legs; most tremors, however, occur in the hands.. Although the disorder is not life-threatening, it can be responsible for functional disability and social embarrassment.. There are different types of tremors.. One type is Kinetic or Intention tremor which occurs during purposeful goal-oriented tasks, for example finger-to-nose testing.. Dysmetria is improper estimation of distance during muscular activity.. Dysmetria includes both hypo- and hypermetria.. With hypermetria, voluntary muscular movement overreaches the intended goal; with hypometria, voluntary movement falls short of the intended goal.. Hypermetria is more commonly recognized than hypometria.. If you suspect that your child may be exhibiting symptoms of any of these conditions, consult your child's medical professional and alert them to the possibility that such a condition may be related to galactosemia.. Treatment for these conditions include various types of phyical therapy and/or medications.. Primary Ovarian Insufficiency (POI).. A majority of girls/women who have classic galactosemia experience Primary Ovarian Insufficiency.. However, there are women with classic galactosemia who have successfully conceived and given birth.. To date, the reason for the high rate of ovarian failure is not known.. Talk with your child's geneticist to get the latest information about this issue.. There are some tests (hormone level testing) which may be performed to check the condition of the ovaries.. (Note: There is no evidence that galactosemia has any negative effect on the reproductive health of boys.. The Premature Ovarian Failure Support Group.. The goal of this group is to offer support and information to women who have been diagnosed with Premature Ovarian Failure.. Ovarian Disorder.. Places Women At Risk for Bone Loss: "Premature ovarian failure (formerly known as premature menopause), increases a woman's risk of bone loss, according to a study by researchers at the National Institute of Child Health and Human Development (NICHD).. ".. Oocyte Donation.. The first successful pregnancy using donated eggs was reported in 1984 in Australia.. Eggs were taken from a fertile donor, and replaced into the uterus of a woman with ovarian failure, after being fertilized.. Speech Disorders.. It is believed that approximately, 60% of classic galactosemic children have speech problems.. Problems range from mild to moderate or severe.. One type of speech disorder that has been associated with classic galactosemia is apraxia of speech, often referred to as dyspraxia.. Dyspraxia is not a developmental delay of speech.. It is considered a "motor speech disorder".. Verbal dyspraxia is defined below:.. Verbal Dyspraxia: A sensory motor disorder of articulation characterized by impaired capacity to plan the positioning of speech musculature and muscle movements for the production of speech sounds.. While it is primarily an articulation disorder, there are a number of other related communication problems associated with dyspraxia, such as: problems of syntax (word order), language organization, and pragmatics (set of rules governing conversation).. (note-Reading, writing, spelling, and spatial awareness can also be affected.. If you suspect that your child has this disorder, or some other speech problem, have your child evaluated as soon as possible.. The sooner speech therapy is started for a child who needs it, the better.. Hearing tests are usually performed first to rule out any kind of hearing impairment.. If your child's hearing has been checked, and a hearing problem has been ruled out as a cause for speech problems, have your child evaluated by a qualified speech pathologist.. You may be able to find a qualified speech pathologist through your local school system (early intervention program.. ) If you suspect dyspraxia, be sure to find a speech language pathologist who is qualified, and has experience with diagnosing and treating a motor speech disorder (or oral motor function disorder).. To find out more about dyspraxia and what things to consider in getting a speech evaluation, the following web sites describes much more in detail.. Speech Disorder Web Links.. Developmental Verbal Apraxia.. Apraxia-Kids.. (A comprehensive information site about childhood apraxia of speech.. Physicians Directory.. Download Our Physicians Directory PDF.. Newly Diagnosed.. As a resource for those newly diagnosed with Galactosemia we have an outreach team.. Please contact them to learn more about how we can help.. Understanding Galactosemia.. Classic Galactosemia / Duarte Galactosemia / Galaktokinase Deficiency.. Genetics of Galactosemia / History of Galactosemia.. Calcium Supplementation / Recommendations..

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  • Title: Galactosemia Foundation - Research
    Descriptive info: Galactosemia Foundation Has Awarded a 4th round of Research Grants totaling $142,453.. Galactosemia Foundation received six strong proposals for Round 4 of our research grant program.. Each proposal was reviewed by the research team lead to ensure it included all required information prior to being officially accepted.. Fourteen peer reviewers were recruited and two were assigned to each proposal by the research team lead.. Each peer reviewer reviewed one proposal using Galactosemia Foundation proposal guidelines and a provided scoring rubric.. In parallel, the research team members each reviewed all proposals and evaluated their usefulness to the Galactosemia Foundation community and their plan for sharing any information generated by the research or study.. The four grants that Galactosemia Foundation funded in round 4 are:.. Dr.. Gerard Berry - Modifier Genes and Epigenetic Effects in Galactosemia.. Judith L.. Fridovich-Keil - Toward improved long-term outcome in classic Galactosemia.. Kent Lai - Characterization of a New Mammalian Animal Model of Classic Galactosemia.. Sandra van Calcar - Nutrition Management of Classic Galactosemia.. Each of the research grants have been awarded for a duration of one year.. Each of the research grant recipients will be asked to write an interim “lay” summary of their research after six months, which will be included in a future Galactosemia Foundation newsletter and posted on the Galactosemia Foundation Research Web page.. In addition, each research group will write a final report at the completion of their grant and these reports will be posted on the GF Research web page.. In addition, we have asked the lead of each of the research groups to consider presenting the results of their work at the 2014 Galactosemia Foundation conference in Orlando.. About the Galactosemia Foundation Research Team.. The Galactosemia Foundation Research Team was established to manage a grant program to distribute GF Research Funds to support a broad range of research to lead to improvements in the lives of people with Galactosemia.. Research funded by this grant program shall include, but not be limited to research about galactosemia involving nutrition, diet, speech, physical and occupational therapy, premature ovarian failure, and other research.. Eligible Projects include research studies, clinical projects, educational projects, or collaborative meetings.. Future grant rounds will be announced as we continue to search for promising treatments and a cure for Galactosemia.. In 2011 we teamed with Dr.. Gerard Berry and Dr.. Susan Waisbren of Boston Children’s Hospital in an innovative proposal requesting a $500,000 grant from the National Institute of Health.. While the proposal was not selected for funding, the Galactosemia Foundation welcomes future opportunities to partner in larger scale research proposals.. The research team will work tirelessly to ensure that Research Fund Donations are wisely invested.. Research Team Members.. Dan Lambert, Chair,.. s rc g mi.. Jo Beth Southard.. Christy Johnson.. Alison Clark.. Denise Wilburn.. Kristine Saylor.. Brian Mannix.. Beatrice Ortega.. Christine Winey.. Kayla Costner.. Ongoing Research.. Improved Intervention for Galactosemia.. Research by Dr.. Judith Fridovich-Keil, Department of Human Genetics, Emory University School of Medicine.. Fridovich-Keil, recipient of the Research Team's first Research Grant, is the principal investigator for this project searching for a potential drug for people with galactosemia.. Email Dr.. Fridovich-Keil.. -.. Read More about Dr.. Fridovich-Keil (PDF).. Reference Growth Curves Research Study for Patients with Classic Galactosemia.. Research study by Jenny Howell with Dr.. Wierenga from the University  ...   of a New Mammalian Animal Model of Classic Galactosemia.. $33,000.. Sandra van Calcar.. Nutrition Management of Classic Galactosemia.. $20,292.. Research Fund.. Over $450,000 has been donated to the GF Research Fund.. The GF Research fund has a balance of approximately $35,000 as of August 11, 2013.. We accept donations online at our.. page, or by mailing your donation to:.. Galactosemia Foundation.. Mandeville, LA 70470-2401.. Galactosemia Foundation Grant Program.. Galactosemia Foundation encourages and funds research that will increase our understanding of Galactosemia and/or help families living with Galactosemia.. Galactosemia Foundation is not currently accepting applications for research grants at this time.. We periodically request proposals, typically every couple of years - depending on the balance of our research fund.. Please refer to the.. Galactosemia Foundation Research Program Policies and Procedures.. document for specific details of the proposal process.. Frequently Asked Questions.. Question 1: What is an Eligible Project?.. The Galactosemia Foundation intends to fund a broad range of research, both scientific and medical, involving the metabolic condition Galactosemia, with the ultimate goal of improving the lives of people with Galactosemia.. Research funded by this grant program may include, but will not be limited to, questions involving genetics, nutrition, diet, speech, physical and occupational therapy, and premature ovarian failure.. Four kinds of project designs will be considered eligible for the grants program: a research study, a clinical project, an educational project, or a collaborative meeting.. Research Project:.. A research project is one that asks a research question that is answered through rigorous systematic methods.. These projects may include but will not be limited to investigations of measurable outcomes in Galactosemia care, epidemiology of Galactosemia, and analyses of aspects of Galactosemia care.. B.. Clinical Project:.. A clinical project seeks to improve Galactosemia care through the development of tools that may augment the delivery of that care.. Examples of this may include but will not be limited to the development of clinical pathways and creation of measurement tools (e.. , to assess quality of life).. C.. Educational Project:.. An educational project is one that designs or implements relevant educational programs, develops educational materials, or develops innovative educational tools for patients and the community.. Collaborative Meetings:.. GF recognizes the need for collaboration among professionals and therefore also encourages studies that demonstrate this important quality.. The grants program will accept applications to fund collaborative meetings among professionals that may lead to future research projects.. Question 2: What Level of Funding can be anticipated?.. Grants have historically been for $50,000 or less, depending upon the scope of the research, clinical, educational, or collaborative project.. Future grant amounts will be dependent on the amount of money available in the Galactosemia Foundation research fund.. Research projects must be completed within the time frame selected for the research as stated on the application.. Question 3: Where do I find Application Forms?.. Galactosemia Foundation is not currently accepting applications.. Important Resources for Researchers and Volunteers.. Researchers.. Galactosemia Foundation Research Grant Application Format.. Peer Reviewers.. Galactosemia Foundation Research Program Request for Peer Reviewers.. Peer Reviewer Scoresheet (coming soon).. Volunteer Peer Reviewer Application.. GF Research Team Reviewers.. Research Team Reviewer Scoresheet (coming soon).. Research.. Round 4 Grants.. About The Research Team.. Team Members.. Intervention for Galactosemia.. Reference Growth Curves Study.. Research Fund Grant Program.. Research Funded to Date.. Grant Program.. FAQ.. Resources.. Back To Top..

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  • Title: Galactosemia Foundation - Fundraising
    Descriptive info: Fundrasing Contest.. Provide detailed templates and 'how-to' packets on successful fundraising.. The Fundraising Team will be served by people who are ready to make a difference in the lives of those affected by galactosemia.. The team shall be comprised of those who understand we must support PGC with $$ or it will cease to exist.. Team members must share a passion to support research and know that no one is going to hand us a treatment or cure for galactosemia, we must actively find it.. How to Fundraise.. Welcome to the Galactosemia Foundation Fundraising Page.. Our goal is to encourage you to financially support the education and research of galactosemia.. We want to provide you with some ideas and “how-tos” to plan your next (or first) fundraising event!.. WHY SHOULD I FUNDRAISE?.. The Galactosemia Foundation is an organization dedicated to supporting and educating families affected by galactosemia.. The Foundation also supports professionals researching and treating this rare disease.. The Foundation is run entirely by unpaid volunteers who organize conferences every other year, publish newsletters, and keep in close contact with medical professionals.. However, as with anything, it costs money to keep the Foundation active and successful.. The foundation sells t-shirts, jewelry and other items to pay for some of our tasks.. There is also a registration fee for the conference.. However, this fee does not come close to covering the expense of the conference and the foundation feels strongly about keeping the cost as low as possible so all families can participate.. In the past few years the Galactosemia Foundation established a research fund.. People may choose to donate directly to this fund.. The Research Team and the Galactosemia Foundation Board seek out research proposals from the medical community and choose projects that will further our knowledge about galactosemia.. These projects are then funded through the research account and the medical professionals report back to the foundation with their findings.. This is the GRASS ROOTS way of funding research and a very important step in expanding knowledge about galactosemia and possible treatments.. How To Organize A Run / Walk.. How To Organize A Carnival.. How To Organize A Silent Auction.. GoodSearch.. Simply do good.. That’s the phrase we have up on our wall here at Goodsearch.. Why? Well, because doing good can be simple.. And a simple act, combined with those of the millions of other people on Goodsearch, can make a big  ...   Galactosemia Awareness Bracelet.. This bracelet was designed by GF President, Michelle Fowler, in an effort to further awareness of galactosemia and the effects it has on those children with this rare disorder.. Children with galactosemia are missing the GALT enzyme which is normally made by the ninth chromosome of DNA.. In the bracelet, this enzyme-producing location is represented by the nine Swarovski colored crystals.. The bracelet's other colored crystals represent qualities that we wish for our children and all who live with galactosemia to possess.. Violet signifies self-esteem that we strive to instill in our children, but which they sometimes lack due to living such a challenging life-style.. Blue signifies sincerity, and health that those with a normal way of life must never take for granted.. Jonquil signifies hope that, through research, a cure and better way of life for those with this disorder will be found.. The heart charm symbolizes the power of love - a love that reminds us that all people deserve compassion and understanding.. To emphasize the uniqueness of each individual with galactosemia, the heart charm on each bracelet is different.. Please accept the heart you receive just as you would embrace and love the unique gifts each child with galactosemia brings to the world.. To order, please fill out the.. Order Form.. , fill it out, and mail it to the address shown.. Make Checks Payable to:.. Mandeville, LA 70470-2401.. Announcing The First Galactosemia Foundation Fund Raising Contest!.. The fundraising team is proud to announce a new FUNDRAISING CONTEST! We will be awarding prizes for fundraisers held in the months of June, July, and August of 2013! We will offer prizes for the most money raised, the most creative, and the best first time fundraiser.. * We have some awesome prizes including an I-PAD Mini, a Kindle Fire, Galactosemia Foundation goods, restaurant gift certificates, and more! Just.. register HERE.. to get started.. All fundraisers must be registered BEFORE they occur to be eligible for the contest.. **.. Never organized a fundraiser before? It’s okay! Check out some of our.. fundraising tips and ideas.. or e-mail Denise Wilburn at.. for assistance.. *First time fundraiser names will be drawn at random to receive the prize, we hope to have many! **Donations must be received and cleared by our treasurer no later than September 15th to be eligible for the contest.. Enter The Contest.. Fundraising.. How To Fundraise.. Swarovski Crystals.. Fundraising Contest..

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  • Title: Galactosemia Foundation - news
    Descriptive info: The Paul Pruszynski Memorial Conference Scholarship.. The Paul Pruszynski Memorial Conference Scholarship was created to honor Paul's memory to provide young people who might not otherwise be able to attend the conference because of personal finances, with the resources to participate.. The scholarship has been extended this year with the creation of the G Force Program so that one GG (18-30) and one G Forcer (13-17) will be selected to receive conference assistance.. Paul attended his first PGC/Generation G Conference in 2010 in Minneapolis, Minnesota.. Paul passed away suddenly in January 2011 when he was 23 years old.. He was looking forward to attending future conferences.. GGs (between the ages of 18-30) & G Forcers (between the ages of 13-17) who cannot attend the 2014 Galactosemia Foundation Conference in Orlando, Florida, because of financial difficulties, can apply for the Scholarship by filling out a questionnaire.. For a copy of the Questionnaire, please e-mail Linda Manis at:.. Lmscript1@aol.. This scholarship will "assist" in helping to cover the cost of the hotel, the registration fees, and possibly airfare.. The GG and G Forcer who are awarded the Scholarship will also participate in a ceremony at the conference to honor Paul’s memory.. Announcing the first annual Galactosemia.. Foundation T-Shirt Design Contest!.. Submit your original artwork representing Galactosemia or our tagline "Working together towards a bright future" for a chance to have your design featured on  ...   and five winners will receive a $50 Amazon gift card.. The drawing will be held October 1st!.. Each participant may enter up to five (5) times using one of each of the five available coloring sheets.. Since newborn screening has been required by law to be done on every baby born in the United States for the last 50 years, children and adults may participate as well, whether or not they are affected by a condition.. Please get your friends, families, schools, preschools, local restaurants, co-workers, etc to color the sheets and post the sheets as well.. THIS IS A CELEBRATION!.. Also on the give-away, if you are a member of a detectable disease support group, please also post your group's website address which in turn will allow people to visit your group's site to learn more about your group & disease(s) when they see your coloring sheet AND the group that has the most participants in posting coloring sheets will receive a $1,000 donation as well.. So be sure to type in your detectable disease group website should you have one when you post your pictures.. Eligible groups for the $1,000 donation are groups that provide support for NBS detectable diseases that are listed on the core and secondary conditions listed on this site.. http://www.. hrsa.. gov/advisorycommittees/mchbadvisory/heritabledisorders/recommendedpanel/index.. html.. Enter Contest Now.. Foundation News.. Memorial Scholarship.. T-Shirt Design Contest.. NBS Awareness Contest..

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  • Title: Galactosemia Foundation - Event Calendar
    Descriptive info: To submit a request to add additional events, please email us.. i e gal c m.. 2014.. Galactosemia Foundation International Conference.. July 17th - 19st 2014 - It's our bi-annual conference at the.. Buena Vista Palace Hotel & Spa.. , Orlando, FL.. Google Map Directions.. Grant's Wish.. Saturday, May 4, 2013 - Kankakee River State Park, IL.. FORE the Cause.. May 17th 2013 - Walgreens presents the 6th Annual FORE the Cause Charity Golf Outing for Galactosemia in Richmond, VA.. forethecause.. Race for Jase.. June 15th 2013 - Crosslin Park at 8am - Enid, Oklahoma.. Keegan's Kause - Texas Hold'em Fundraiser.. When:.. - September 14th, 2013.. Where:.. O'Fallon American Legion, 109 North Penn Street, O'Fallon, IL 62269.. Details:.. $60 Buy-In (Advance) / $70 Buy-In (At The Door).. $30 Re-Buy and $30 Add-On Available.. Prizes to the top 3, Silent Auction, and 50/50.. Beer and Food Provided.. Space Is Limited.. RSVP today to Guarantee your spot!.. Not a poker player but want to participate? Join us for drinks, food, silent auction, raffles, and card/casino games running all night! Questions? Please Call (618)979-2846 or email.. keeganskause@gmail.. Keegan's Kause.. Box 1082.. O'Fallon, IL 62269.. Presley's Promise 3k Run/Walk for Galactosemia.. - Saturday October 19th, 2013.. - Indian Acres Park, Marietta, OH.. Come help us find a cure for Galactosemia! Registration is $15.. 00.. All participants will be eligible to win one of many great door prizes.. The run/walk will start at Indian Acres Park (close to the Aquatic Center) and follow the bike path.. Click Here To Register.. Presley's Story.. Presley Cunningham was born in December 2006.. At ten days of  ...   to the Galactosemia Foundation (Research and Foundation support).. **We will drop tickets off to you if you are local to Marietta! Just let me know how many tickets you would like and where to drop them off.. Prizes are as follows:.. 1st Prize: $500 Cash.. 2nd Prize: Ipad 2 wi-fi.. 3rd Prize: $25 Toys R Us GC.. 4th Prize: $25 Kohl's GC.. 5th Prize: Avon Gift Basket.. 6th Prize: Thirty-One Thermal Bag.. You do not need to be present to win and we will ship the prizes anywhere in the US, so you do not have to be local to us.. If you would like to mail a check, it can be sent to:.. Cathy Cunningham.. 21923 State Route 676.. Marietta, Ohio 45750.. Please make sure to write 'raffle' in the comments section.. We will mail your ticket stubs to you.. You may also Paypal to money to: office@magnetvalley.. Again, please write 'raffle' in comments section.. 4th Round of Research Funding.. December 2012 - Funding Kicked Off.. Hello Dallas.. July 19th - 21st 2012 - It's our annual conference.. Mark Your Calendars.. Fore the Cause.. May 18th 2012 - Fore the Cause, VA Charity Golf Outing for Galactosemia in Richmond, VA.. Grant’s Wish 5k.. May 5th, 2012 - Grant’s Wish 5K run will be held at the Kankakee River State Park on Saturday, May 5, 2012 at 9:00 a.. m.. Come help us raise $ for research, awareness about galactosemia and have fun with your family while you are supporting us!.. Event Calendar.. GF International Conference.. Race For Jace.. Presley's Promise Run.. Presley's Promise Raffle.. 4th Round Research..

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  • Title: Galactosemia Foundation - DONATE NOW!
    Descriptive info: How To Donate.. The Galactosemia Foundation is run entirely by volunteers and we rely on donations to allow us to continue working towards our mission.. Therefore, a donation of ANY amount is greatly appreciated.. You may donate right here on this website with the paypal link or you may mail your donation to The Galactosemia Foundation at P.. Box 2401, Mandeville, Louisiana, 70471.. General Fund.. All donations are 100% tax deductible and can be allocated to the General Fund or Research Fund.. The Galactosemia Foundation is made up of volunteers that are committed to dedicating their time and efforts to the Mission of the organization.. The general fund is used to print and send the Newsletters twice/year, offset the registration costs for the bi-annual conference and legal and accounting fees to sustain the organization as a charitable organization.. Download the latest balance sheet.. The research fund is used to  ...   With your involvement and sponsorship, you will demonstrate that your company is a significant supporter of education and research for everyone affected by this genetic disorder.. Over 500 people - both affected families and scientific professionals - from all over the world will attend the 2014 Galactosemia Foundation conference.. They'll learn about the latest scientific and nutritional advancements and take part in informed and relevant dialogue around Galactosemia-safe foods and lifestyles.. As a sponsor, your participation will give you access to a national and international network of dietitians, health professionals, and consumers of galactosemia safe foods.. You will have the opportunity to promote your product directly to the conference attendees and speakers.. We invite you to be a vital and highly-visible part of the process of supporting nutrition, education and research for individuals affected by Galactosemia.. Download The 2014 Sponsorship Details (PDF).. Attend an Event.. Donate NOW!.. Corporate Sponsorship..

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  • Title: Galactosemia Foundation - Conference
    Descriptive info: Download the Conference Newsletter.. Galactosemia Foundation Bi-Annual International Conference.. Teaming Together for a Bright Future as we are Linked for LIFE!.. 2014 Bi-Annual Conference in Orlando, Florida.. Conference Details.. Date:.. - July 17-19th, 2014.. Location:.. - Buena Vista Palace Hotel & Spa, Orlando, FL.. This conference will provide an opportunity to learn about all aspects of Galactosemia.. It will focus on addressing real-life situations faced by those with Galactosemia.. Workshops will offer practical strategies and tools that can improve the quality of life for individuals with Galactosemia and their families.. In addition to the General Session for adults, we offer professional childcare services by specially trained staff for all ages.. Through optional social activities, the conference allows an opportunity to meet other parents, dietitians, physicians, children and adults with Galactosemia, as well as the opportunity to sample various "safe and delicious foods.. Reserve Your Room Now.. Book today to take advantage of the excellent conference room rate of $129.. 00/night..  ...   at 1-866-397-6516.. Online Room Reservations.. Use this link to directly make reservations without login:.. Direct link for Attendee Registration.. Galactosemia Foundation T-Shirt Contest.. DESIGN * ENTER * WIN - CALLING ALL ARTISTS AND NON-ARTISTS !!.. Enter the first ever Galactosemia Foundation T-shirt Design Contest for a chance to see your artwork featured on a limited run of Galactosemia Foundation T-shirts.. Winner will receive a free T-shirt and acknowledgement at the 2014 Conference in Orlando, Florida.. Contest begins soon, check back for updates and entry information.. 2012 Bi-Annual Conference in Dallas, Texas.. Our 2012 Bi-Annual Conference was a huge success.. Many thanks to our organizers, speakers, and attendees for making this event a reality.. Check back soon for updates and photos from the convention.. Also be sure to check out the.. Australian Galactosaemeia Support Network.. The AGSN has a.. 2012 Conference Page.. of their visit to the 2012 conference with summaries about.. Diet, Research, Reproductive System, and Neurologial.. International Conference.. Details.. Reservations..

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