Dystopia canthorum, W index 1.95 * - PDF document

Moshakos 3 Dystopia canthorum, W� index 1.95 * Affected first-degree relative Minor Criteria Skin hypopigmentation (congenital leukoderma) Synophyrys/medial eyebrow flare Broad/high nasal root, prominent columella Hypoplastic alae nasi Premature gray hair (before age 30 years) (Milunsky, 2007) If a patient fits the reque diagnosed with Waardenburg Another way doctors diagnose patients with Waardenburg syndrome is through SNAI2 lead to the variations found in the syndrome (USNLM, 2006). The genes that cause Waardenburg syndrome are involved in the formation and development of several types of cells, including pigment-producing cells called melanocytes. Melanocytes make a pigment called melanin, which contcolor and plays an essential role in the normal function of the inner s disrupt the normal development of melanocytes, leading to abnormal pigmentation of the skin, hair, and eyes and problems with hearing. (USNLM, 2006) Since there are different types of Waardenburg syndrome, different gene mutations play different roles in each type. Type I Waardenburg’s is associated with a mutation in the PAX3 gene whereas Type II Waardenburg’s is associated with a mutation Waardenburg’s Type II show a mu Moshakos 4 associated with gene mutations on the PAX3 gene, similar to those in Type I. Type IV, which is linked with Hirschsprung Disease isSOX10, and EDNRB genes. These genes are ith the development of pigment producing cells, but are also a key the large intestine. The most common mode of inheritance of Waardenburg syndrome is autosomal dominant. Autosomal dominant inheritance meangene mutation to pass on to the afflicted child. Since the gene mutation is dominant, the fflicted individual. Autosomal recessive inheritance is seen in a few rare cases of Waardenburg’s. Autosomal recessive inheritance means that both parents are carriers of the mutated gene but neither of them In some cases of Waardenburg syndrome, ce. In cases like these, new gene mutations arise in the afflicted individuals with no other family members having an afflicted genotype or PART B: I chose to research Waardenburg syndrome because when I was born, the doctors told my parents I had the disorder. I have never followed up with genetic tests to see if the doctors made a correct diagnosis because I have not had any major issues regarding the disorder. The doctors were able to comebased on a white streak in my hair. Because I had no other physical characteristics of the disorder, they assumed I had type II Waardenburg’s which carries approximately a 70 Moshakos 5 percent chance of hearing impairment (Milunsky, 2007). Untiforgotten this tid-bit of interesting information because it hadn’t affected me in a negative manner. Over the past few months I have noticed that I am having a harder time hearing out of my right ear which brought forth the idea that I might in fact have Waardenburg syndrome. I decided to do my paper on the topic so that I can learn more about it since I There are a handful of people walking around with Waardenburg syndrome that have never been diagnosed because they have had no reason to believe they have a diagnosed with Waardenburg syndrome because thnburg syndrome is frequently accompanied with hearing loss, a doctor who is checking out the patient’s hearing loss ic of the disorder which ultimaThis might be dystopia canthorum which makes the eyes appear as though they are widely set apart or more commonly: a white pigmented eyes. Some individual and family consequences associatedsyndrome is a potential lifestyle change. If a child is born with Waardenburg syndrome to two parents who are also afflicted with the disorder, there will not be much of a lifestyle change needed if all three members have the same severity of the disorder. Depending on what type of Waardenburg’s the afflicted individual has, they might be dealing with problems of hearing loss, joHirschsprung’s Disease, and/or abnormalities in physical appearance. Moshakos 6 If the afflicted individual has hearing loss, to be determined determined, there are quite a few treatments for the disability. Some treatments include afflicted with Waardenburg’s who have profthis is where a lot of questions come up. Families face decisions such as what kind ren in the regular schooling system or send them somewhere specifically for the hearing impaired (BTNRH). Since minor joint contractures sometimes accompany cases of Klein-Waardenburg’s, it is one more thll have to overcome day to day. The minor joint contractures that appear are usually in the fitus may be used to help stretch out and extend the muscles, ligaments, and/or tendons contractures are very minor, physical therapy leviate the majority of discomfort and make day to day activities easier. It isn’t uncommon for children born with his, it is imperative thatmedical attention as soon as possible to s their needs to make sure they are as successfas possible. Moshakos 7 Hirschsprung’s Disease, associated with Waardenburg-Hirschsprung is a disorder tially cause extreme pain away to fix the blockages such as the case of little Tom: Tom took the first bottle just fine and my husband loved being with his son. Tom later vomited vomit went from bile, then to fecal matter, he never passed meconum. An X-ray showed a bowel obstruction. We were After many tests and biopsies, Tom was diagnosed with Hirschsprung's disease. He had surgery at 6 days old for a loop ileostomy. (MUSHC, 2007) The most common barrier to overcome with Waardenburg syndrome is the denburg syndrome is most commonly known for hearing loss and pigmentation anomalies it is extremely common for those afflicted with , white forelocks, and pigmentation spots on different parts of their bodies. In more rare cases, some afflicted india canthorum. Although surgical enough to, for the most part, repair a cleft palateface which will not go away. As for dystopia canthorum, there is no way to fix the appearance of the eyes being set wider apart. More commonly afflica white forelock and premature graying. This could be troublesome for younger children since other children can sometimes be ratherof people with white forelocks and premature Moshakos 8 pigmentation differences are not noticeable. As well as hair color differences, having t time I noticed something was different about me – I had always been very confident (or perhaps indifferent) of my appearance. I remember holding my teacher’s hand, waiting for my bus to come, when a cheeky-looking girl came off of a bus and approached me. “What’s wrong with your eyes?” she asked, rudely, “You look so weird.” My teacher was my make me forget the incident. When I came home, I asked my mom if something was wrong with me, if I really did have differently several hours examining myself in front of a mirror, very puzzled. (MUSHC, 2007) Researching Waardenburg syndrome has really opened my eyes to the disorder. I was unaware of how severe and potentially debilitating this disorder could be because the only symptom I have had is a white forelock until recently when I have become more aware of some hearing loss in my right ear. I feel extremely lucky and at the same time ignorant for not knowing the severities of this disorder. Within the last decade a lot of organizawith Waardenburg’s have been created and flplace or way for people afflicted with the disorder to get in touch with one another and I believe since the disorder is extremely publicized the public hasn’t done much to get involved. As the ree disorder and become more aware of the Moshakos 9 signs and symptoms of the disorder. Also, advance meaning there will hopefully one day be better treatments to hearing loss, joint ciated with Waardenburg’s Syndrome. PART C: For the interview portion of this paper I got in touch with “Banjo” from AllDeaf.com who is a 23 year old male from Canada who has Waardenburg syndrome ho works at Brigham and Women’s Hospital in association with the Harvar I contacted Banjo after sthreads on the AllDeaf.com website. Since Waardenburg syndrome causes hearing impairments in a lot of the people diagnosis, the doctors are fairly certain he has Waardenburg’s because of certain traits he displays. Banjo has one brown eye and one one surprising thing to me is that Banjo referred to these three traits as having a “mild form” of the disorder while a lot of people overcome his profound hearing loss and eye glasses to correct his vision problems. Although teased about his premature graying eyes, he says most people don’t notice them a Moshakos 10 Andrea Uscinski graduated from Brandedenburg syndrome although she is extremely Andrea described what exactly it is that makes a “rare” disorder “rare”. She also one person might find some odds rather high, another patient might think those same odds are somewhat low. nd the odds of inheriting a disorder, it seems as though a lot depends on the patient’s perspective and optimism. Andrea then went on to give an extremely thorough explanation of diagnoses and how they are beneficial to the patient because it helps the doctor predict what might come next. She also mentioned the differences between a diagnosis a doctor makes by viewing the patient and a diagnosis made by genetic tegenetically tested for Waardenburg’s and the tests return positive, my insurance rates the doctor requiring medical help for the disorder. To me, this is extremely disheartening mpany that is supposed to prsupposed to turn to for help? Andrea entered the field of genetic counsformed between a patient and a genetic counse quick “15 minutes” patient. She also enjoys the Moshakos 11 turn the medical jargon into digestible information for the patients. As the conversation went on, we began to get into more of the inheritability and ce this is a fairly personal topic for me, I asked Andrea a few questions about my situation and different symptoms associated with the disorder. Some her or not someone can have juother symptoms and still have the disorder tes “premature graying”. To know for sure whether or not I have the disorder I will need genetic testing. The question now is: do I want to risk my insurance rates for the sake of knowing? INTERVIEWS Interview with individual afflicted with Waardenburg Syndrome: ‘Banjo’ from Alldeaf.com is a 23 year old from Ontario, Canada who has Waardenburg syndrome. StudentNCSU (Chantal): How old were you when you were diagnosed with Waardenburg Syndrome? : Well, I'm not sure when I was diagnosedwithin a year of my birth date. How did they diagnose you with Waardenburg Syndrome? (blood tests or visual : I have different coloured eyes. One is blue and one is brown. The greying didn't begin until I was approximately 10 to 12 years old. I'm deaf, which you already knew. Have genetic tests been done to determine which gene your form of Waardenburg Syndrome is associated with? (E Moshakos 12 : Not that I know of, but it's a mild type. Only my eyes, hearing ability and hair are Which type of Waardenburg Syndrome were you diagnosed with? ith Waardenburg Syndrome do you have? : Deafness, premature greying and different coloured eyes. It has been said the bridge between my eyes is slightly (and I mean slightly) wide. Hardly noticeable, I don't even notice it myself. I don't have a skin condition or any sort of severe symptoms associated with the syndrome. loss or do you have none at all? sses, I am somewhere near-see better with it. Or if I go to the movies, I wear them so the movie will appear much sharper. tions without hearing aids. I can hear drums How have you overcome this syndrome? : I never really took issue with it. It's a part of me. Always has and always will be. Waardenburg Syndrome (if you have visible characteristics of the syndrome)? : Actually, people rarely notice my eyes. The only obvious part would be my deafness but many aren't aware of the syndrome itself to start with. In fact, once they discover my eyes, they think it's pretty cool. When I was a teenager, some students would occasionally call me an old boy because of my hair. It really never bothered me. When diagnosed with Waardenburg Syndrome, help educate and inform you about the syndrome? Not really. My family doctor told my parents of the syndrome and educated them a little on the subject. Then years later when I became more interestdecided to do more research. is misunderstood or not well known about Waardenburg Syndrome, what would that be? Moshakos 13 : Well, there has been the occasional question of if I see differently from my eyes. on one side of my face, once I start blinking one eye and I would notice one is more saturated while one is slightly less saturated. So the doctors are not sure of what type (I-IV) of Waardenburg Syndrome you have? : I just don't recall being told which type. Plus, I don't believe most doctors are really enlightened on the syndrome to start with. Interview with genetic counselor: or working at Brigham and Women’s Hospital in Boston, MA. The following comes from several emails exchanged between Andrea and me: (from the original email I sent) I am an undergraduate student at North Carolina State University and I am currently working on a research paper for myassignment requires us to ask a professionaosen to research Waardenburg syndrome and I am curious if you have the time tosyndrome? The questions are: What exactly is it that you do? How long have you been in the field? How often do you encounter/diagnose a patient with Waardenburg Syndrome? Which type of Waardenburg Syndrome are you most familiar with? Which type of Waardenburg Syndrome is most commonly diagnosed? What genes are related to Waardenburg Syndrome? How is Waardenburg Syndrome inherited? Does Waardenburg Syndrome affect life expectancy? Moshakos 14 eat the symptoms of Waardenburg Syndrome? of Waardenburg Syndrome you have patient? Thank you for your time and I look forward to hearing from you soon :) -Chantal Moshakos to know my background? I am a genetic counselor currently working at Brigham and Women's Hospital/Harvard . I received my Master's degree in Genetic Counseling from Brandeis University in May 2006 so I am new to the field. What is a genetic counselor? ng people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates: * Interpretation of family and medical histories to assess the rrence or recurrence. ce, testing, management, prevention, resources and research. * Counseling to promote informed or condition. The above definition is the professional definition stated by the National Society of Genetic Counselors. As you can tell from the nts...from the prenatal setting wh nd adults with different conditions to areas such as cancer where we try to find out whether people or families are predisposed to Waardenburg syndrome is a "rare" condition but there are conditions that are "rarer". In fortunate enough to see a lot in my internships in the Harvard teaching hospitals because people from all over the world with the "rar these hospitals for their care. Even though I am new to the field, I have had the opportunity to work with a few patients with Waardenburg syndrome through my internships. Moshakos 15 In terms of what it is like to live with the condition, different people have told me in my internships is the reactions that people have when they or their children are diagnosed with a condition. Just as "rare" is relative term. If someone toldWaardenburg syndrome was 1/2 or 50% would you think that risk was high or low? Some people might say high, some people might say low. Some people might be really worried, other people might not be so worried. I have seen many different reactions and each reaction is "correct" or valid. In your paper, you might mention your pers So what is the difference between a clinical testing result? What diagnosis anyway? A diagnosis is very important because it gives physicians information not only about a person's current health but it also tells them otWaardenburg syndrome these things include dimay have had closer screening than other people because your doctor mentioned the possibility of Waardenburg to your parents whperson access to resources that they might not have. For examdisabilities with no diagnosis, that child may have a much more difficult time help from special needs programs than if that child received a diagnosis such as Down Syndrome. Some diagnoses are made on the basis of a combination of major health problems and others can be made by recognizing small subtle to put a pattern together. For example, a "white forelock" is a small subtle feature that anyone can have and on its own means nothing. However, if you combine that feature ith a disease such as Waardenburg syndrome, a doctor may give you a diagnosis. Does this mean for sure that you have Waardenburg syndrome? That is something that your doctor will have information about based on your personal medical history and your family history. It is possible for a person to have a "white forelock" and some hearing loss without having Waardenburg syndrome. It is also possible for a person to have this condition even if no one else in their family has the same condition. Many times genetic testing is used to confirm a diagnosis. Genetic testing is not for one that you can make. Some people like to know...information gives them power...other people are overwhelmed or something to discuss with your family and docmedical and family history and discuss the pros Moshakos 16 Once a genetic test result becomes a part of your medical record, insurance companies can look at it and decide to increase your rates or drop your coverage. That would be something to talk : It seems the more I think about the disorder, the more questions arise in my mind: You mentioned you have worked with a few patients with Waardenburg's, which type of the disorder did they have? to the "Waardenburg spectrum" meaning that they had some of the features but either did not want to pursue genetic testing or identify a known mutation. Chantal: Also, what drove you to choose a career in the field of genetics? love helping people and I enjoy the counseling and teaching part of medicine the most. Whereas doctors often only have 15 minutes with a patient, I talk with patients for an hour or more and relationship with the people I work with. It is a very interesting field and a very broad field because they are so many different ways enjoyed science and I can translate complicated medical terms into language that is meaningful and relevant for different Genetests.org says premature grayiWaardenburg's. My Mom was all over gray am 21 and starting to go gray. Could this be an indicator that mashe has no other symptoms? Andrea: It is possible that she is a carrier...but her doctor should be the one to diagnose her... Also, she has SUPER sensitive ears and loud noises really bother her do to pain. Are there any cases of Waardenburg's causing hypersensitivity in the ears or does it only cause a loss of hearing? Waardenburg syndrome is usually associatdoesn't mean that there aren't exceptions...agaimay be a better person to consult as her doc Moshakos 17 Can someone have a white forelock without having Waardenburg's syndrome? YES...many people have white forelocks and many people also have premature ve Waardenburg syndrome Can someone have Waardenburg's and only have a white forelock and no hearing loss or other symptoms? It depends on how you define Waardenburg syndrome...many people have symptoms...this does not mean they all have Waardenburg syndrome....do they have a mutation in PAX3? Who knows...it might be a ssively? What is the chance of this occurring for someone with Waardenburg's? Is it imminent that this will occur at some point in their life? People with Waardenburg syndrome have the following article for more info: http://www.nidcd.nih.gov/health/hearing/waard.asp Remember, that the features described are often the features that people share in people are not exactly the same. Is it possible for someone to have Waardenburg's and not know it? Can someone have the disorder and have no symptoms? aardenburg syndrome...does it matter at that point if they do or not? If they have no symptoms, they will never come to medical Are there any medications or treatments that prevent or slow down symptoms from developing? I think it discusses this in the How do the mutations in the certain geWaardenburg's? ience...you might be able to find out some of that info on Pubmed...but I don't think your teacher will expect you to be able to thinking that different mutaout is many functions...variations in other genes may modify as well (which we also do not know too much about) and may act protectively against the condition or may enhance the effects of the condition. Moshakos 18 If a case of Waardenburg's is not directmutate leading to the disorder? mutation"....this just happens to our genes...sometimes it has no effect on our health his is part of the When someone comes to you for counseling Waardenburg's, what advice do you give them about planning a family? condition already...try to fill in any information gaps...and ask them what theitly...I don't tell them what to do...I only give them the informati need to make a decision that is best for their particular situation...I also help connect families to other families, support groups etc. Sometimes people want to talk to others who have been in the same situation, hear their stories, a I have been in contact with someone who has Waardenburg's. He has a white aardenburg's he has. He has mentioned that when the sun is shining on his face, when he blinks one eye at a time, he sees through one eye with more saturation and through one eye with less saturation. Are vision problems associated with Waardenburg's? Yes...you will probably find out more about a few pictures I might be able to dig up for you on this one... Here is an article you might check out: Pediatr Ann. 2007 May;36(5):277-8.Links Different colored eyes. Waardenburg syndrome. Charrow J. and Metabolism and the Genetics Laboratory at Children's Memorial jcharrow@northwestern.edu You can email the author for a copy of the paper I hope I am not bombarding you with too many questions? I am just completely fascinated with learning mo questions...I'm happy to help... Moshakos 19 References: Title Page Images: Ghorayeb, Bechara Y. Otolaryngology Houston. ://www.ghorayeb.com/Waardenberg.html&#xhttp;怀. Karaman, Ali., and Cihangir Aliagaoglu. Waardenburg Syndrome Type 1. 2007 atology.cdliaardenburg/karaman.html&#xhttp;&#x://d;rm8;. PART A: Ezzell, C.. "Hearing Gene." Science News 141.18 (1992): 296-297. McKusick, Victor A. WAARDENBURG SYNDROME, TYPE III; WS3. 25 Oct. 2007 ://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=&#xhttp;倀148820. Milunsky, Jeff M. Waardenburg Syndrome Type I. ://www.genetests.org/servlet/access?db=geneclinics&site=gt&id=8888891&key=HO49awy6QiCQl&gry=&fcn=y&fw=H5h2&filename=/profiles/ws1/index.html&#xhttp;怀. National Institute on Deafness and Other Communication Disorders (NIDCD). Waardenburg Syndrome. ://www.nidcd.nih.gov/health/hearing/&#xhttp;怀waard.asp. Polzin, Scott J. Waardenburg Syndrome. ://www.healthline.com/galecontent/waardenburg-syndrome#waardenburgsyndrom&#xhttp;怀e. Tagra, Sunita et al. "Waardenburg Syndrome." Indian Journal of Dermatology, Venereology & Leprology 72.4 (2006): 330-333. U.S. National Library of Medicine (USNLM). Waardenburg Syndrome. Oct. 2007 r.nlm.nih.gov/condition=waardenburgsyndrom&#xhttp;&#x://g;&#xh500;e. PART B: Boys Town National Research Hospital. Information on Hearing Loss - My Perspective as a Deaf Person Working with Geneticists. ://www.boystownhospital.org/Hearing/info/genetics/perspectives/my_perspective.as Kahn, Alice. About WS. ://www.units.muohio.edu/waardenburgsyndrome/aboutws.htm&#xhttp;怀. Moshakos 20 Miami University's Speech and Hearing Clinic. Story From A Teenager with WS. 25 Oct. 2007 ://www.units.muohio.edu/waardenburgsyndrome/teenagerstory.htm&#x htt;&#xp600;. Miami University's Speech and Hearing Clinic. Tom's Story. ://www.units.muohio.edu/waardenburgsyndrome/toms.htm&#xhttp;怀. Society to Aid the Hearing Impaired. Hearing Impairment Problems and Solutions. 25 Oct. 2007 &#xhttp;&#x://s; hie; rca;&#xre.o;&#xrg/h;&#xips.;&#xhtm8;. U.S. National Library of Medicine (USNLM). Waardenburg Syndrome. Oct. 2007 r.nlm.nih.gov/condition=waardenburgsyndrom&#xhttp;&#x://g;&#xh500;e.