Download Waardenburg Syndrome

Waardenburg Syndrome
Chantal Joy Moshakos
GN 301 002
November 18, 2007
“I have neither given nor received unauthorized aid on this assignment”
_________________________
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PART A:
Waardenburg syndrome is a rare genetic disorder which is often characterized by
hearing and pigmentation mutations. Waardenburg was named by Petrus Johannes
Waardenburg, a Dutch eye doctor, who was the first to see a link between hearing loss
and people with differently pigmented eyes (NIDCD, 2007). In 1951, Waardenburg
noted six major characteristics associated with the different types of Waardenburg
syndrome: high nasal root, medial eyebrow flare, partial or total pigmentation differences
of the iris’s, deaf-mutism from birth, and a white forelock (Tagra et. Al, 2006).
Waardenburg’s most commonly affects the pigmentation of the skin, hair, and
iris’s of the eyes. Those afflicted with Waardenburg’s often have very pale, vivid blue
eyes or different color eyes. One blue eye and one brow eye is the most common
occurrence although occasionally the iris will have two different colors in it such as half
blue and half brown. Waardenburg’s is also often characterized by a white forelock. The
white forelock is usually on the midline of the hair but can also be found farther back on
the midline. Although the forelock is usually white, there have been some cases of red or
black forelocks associated with Waardenburg syndrome (Milunsky, 2007). Another
characteristic of Waardenburg syndrome is premature graying. Premature graying is
graying before the age of thirty although it is often found at much younger ages in people
with Waardenburg syndrome. In rare cases, other more debilitating impairments are
associated with Waardenburg’s such as upper limb musculoskeletal deformities, joint
contractures, disorders affecting the spine, and cleft lip/palate (NIDCD, 2007).
Not everyone afflicted with Waardenburg’s has hearing loss. Hearing loss usually
only afflicts 60% of those diagnosed with the syndrome (USNLM, 2006). On the other
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hand, Waardenburg accounts for approximately 2-3% of the cases of patients with
congenital hearing loss (Ezzell, 1992).
There are four main types of Waardenburg syndrome denoted as types I-IV. The
most prevalent are types I and II. Some of the types of Waardenburg syndrome go by
different names. When a person mentions Waardenburg syndrome without a number
following it, they are traditionally talking about Waardenburg Syndrome type I.
Waardenburg syndrome type II is often called Waardenburg syndrome without dystopia
canthorum (the appearance of wide set eyes) (Polzin, 2002). Type III is usually referred
to as Klein-Waardenburg syndrome and is differentiated from the others because it is
usually characterized by upper limb deformities (Mckusick, 2006). The last type of
Waardenburg’s, type IV, is extremely rare and usually goes by the name of
Waardenburg-Shah or Waardenburg-Hirschsprung because it is associated with
Hirschsprung’s disease which affects the intestines by causing blockages and constipation
(USNLM, 2006).
The Waardenburg Consortium has devised a set of diagnostic criteria used to
diagnose patients with Waardenburg type I. For a patient to be diagnosed with type I,
they must have two major criteria or one major and two minor criteria. The criterion
includes:
Major Criteria
•
•
•
Congenital sensorineural hearing loss
White forelock, hair hypopigmentation
Pigmentation abnormality of the iris
o Complete heterochromia iridum (irides of different color)
o Partial/segmental heterochromia (two different colors in same iris,
typically brown and blue)
o Hypoplastic blue irides, or brilliant blue irides
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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 required criteria above, they are diagnosed with Waardenburg
type I.
Another way doctors diagnose patients with Waardenburg syndrome is through
genetic testing. There are several genes involved in the different types of
Waardenburg’s. Mutations in the genes PAX3, MITF, EDN3, SOX10, EDNRB, and
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 contributes to skin, hair, and eye
color and plays an essential role in the normal function of the inner
ear. Mutations in any of these genes 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
in the MITF and SNAI2 (USNLM, 2006). About 10-20% of patients afflicted with
Waardenburg’s Type II show a mutation in the MITF gene (Milunsky, 2007). Type III is
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associated with gene mutations on the PAX3 gene, similar to those in Type I. Type IV,
which is linked with Hirschsprung Disease is related to gene mutations on the EDN3,
SOX10, and EDNRB genes. These genes are not only associated with the development
of pigment producing cells, but are also a key player in the development of nerve cells in
the large intestine.
The most common mode of inheritance of Waardenburg syndrome is autosomal
dominant. Autosomal dominant inheritance means that at least one parent has to have the
gene mutation to pass on to the afflicted child. Since the gene mutation is dominant, the
parent will have the phenotype of an afflicted 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
has the phenotype of an afflicted individual. In some cases of Waardenburg syndrome,
there are no modes of inheritance. In cases like these, new gene mutations arise in the
afflicted individuals with no other family members having an afflicted genotype or
phenotype (USNLM, 2006).
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 come to the conclusion that I had Waardenburg’s
based 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
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percent chance of hearing impairment (Milunsky, 2007). Until recently, I had basically
forgotten 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
have been in the dark about the disorder until recently.
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
genetic disorder. On the other hand, there are also quite a few people who have been
diagnosed with Waardenburg syndrome because they have several characteristics of the
disorder that affect there life day-to-day. Since Waardenburg syndrome is frequently
accompanied with hearing loss, a doctor who is checking out the patient’s hearing loss
often spots a physical characteristic of the disorder which ultimately leads to a diagnosis.
This might be dystopia canthorum which makes the eyes appear as though they are
widely set apart or more commonly: a white forelock or total or partially different
pigmented eyes.
Some individual and family consequences associated with Waardenburg
syndrome 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, joint contractures, learning difficulties,
Hirschsprung’s Disease, and/or abnormalities in physical appearance.
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If the afflicted individual has hearing loss, it will first need to be determined
whether or not both ears are afflicted and how severe the hearing loss is. Once this is
determined, there are quite a few treatments for the disability. Some treatments include
hearing aids or cochlear implants. If the hearing loss is too severe for either of those,
then the afflicted individual will have to learn sign language. For young children
afflicted with Waardenburg’s who have profound or total hearing loss born to parents
who have perfect or no severe hearing loss, this is where a lot of questions come up.
Families face decisions such as what kind of sign language to teach their children and
whether or not they should keep their children in the regular schooling system or send
them somewhere specifically for the hearing impaired (BTNRH).
Since minor joint contractures sometimes accompany cases of KleinWaardenburg’s, it is one more thing an afflicted individual will have to overcome day to
day. The minor joint contractures that appear are usually in the fingers and toes (Kahn,
2007). To ease these contractures, an apparatus may be used to help stretch out and
extend the muscles, ligaments, and/or tendons that are causing the contracture. If the
contractures are very minor, physical therapy should be enough to alleviate the majority
of discomfort and make day to day activities easier.
It isn’t uncommon for children born with hearing disabilities to also have learning
disabilities as well (SAHI, 2007). Because of this, it is imperative that children born with
Waardenburg’s and hearing loss get the proper medical attention as soon as possible to
figure out a plan that best suits their needs to make sure they are as successful in school
as possible.
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Hirschsprung’s Disease, associated with Waardenburg-Hirschsprung is a disorder
that affects the large intestine (USNLM, 2006). The disorder causes intestinal blockage
and constipation. This can potentially cause extreme pain and interfere with day to day
activities. In severe cases, surgery is the only way to fix the blockages such as the case of
little Tom:
Tom took the first bottle just fine and my husband loved being
allowed his first hold and cuddles with his son. Tom later vomited
that first feed and his tummy looked distended. The next day,
vomit went from bile, then to fecal matter, he never passed
meconum. An X-ray showed a bowel obstruction. We were
quickly transferred to I.C.U in another hospital in New Zealand.
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
physical appearance barrier. Since Waardenburg syndrome is most commonly known for
hearing loss and pigmentation anomalies it is extremely common for those afflicted with
the disorder to have different colored eyes, white forelocks, and pigmentation spots on
different parts of their bodies. In more rare cases, some afflicted individuals have to deal
with cleft palate and dystopia canthorum. Although surgical procedures have advanced
enough to, for the most part, repair a cleft palate patients are often left with a scar on their
face 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 afflicted individuals have
a white forelock and premature graying. This could be troublesome for younger children
since other children can sometimes be rather unforgiving of people’s differences. A lot
of people with white forelocks and premature graying often dye their hair so that the
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pigmentation differences are not noticeable. As well as hair color differences, having
two different colored eyes can be rather unforgiving for younger children as seen in this
story:
Kindergarten was also the first 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
defender, quickly reprimanding her, but that wasn’t enough to
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
colored eyes! Apparently I hadn’t noticed it until then. I spent
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 organizations and support groups for those afflicted
with Waardenburg’s have been created and flourished. Prior to that, there was never a
place or way for people afflicted with the disorder to get in touch with one another and
share their stories. As awareness of the disorder grows, so does the support and research
into the causes and genetic links associated with Waardenburg’s.
I believe since the disorder is extremely rare and not really publicized the public
hasn’t done much to get involved. As the research progresses, I think the public will get
more involved in spreading the word about the disorder and become more aware of the
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signs and symptoms of the disorder. Also, as the research progresses the technology will
advance meaning there will hopefully one day be better treatments to hearing loss, joint
contractures, and Hirschsprung’s associated 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
and a genetic counselor, Andrea Uscinski, who works at Brigham and Women’s Hospital
in association with the Harvard Institute’s of Medicine.
I contacted Banjo after searching through a few of the threads on the AllDeaf.com
website. Since Waardenburg syndrome causes hearing impairments in a lot of the people
diagnosed, I had a good feeling I would be able to get in touch with an afflicted
individual on this site. Although Banjo has never had genetic testing done to confirm the
diagnosis, the doctors are fairly certain he has Waardenburg’s because of certain traits he
displays. Banjo has one brown eye and one blue one, profound hearing loss, and his hair
turned gray between 10 and 12 years old. The 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
out there would consider the profound hearing loss “severe”. Banjo uses hearing aids to
overcome his profound hearing loss and eye glasses to correct his vision problems.
Although teased about his premature graying hair, he shrugged off the comments as a
preteen and didn’t really think twice about his appearance. As for his different colored
eyes, he says most people don’t notice them and if they do they think the two different
colors are “cool”.
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Andrea Uscinski graduated from Brandeis University in May of 2006. Unlike a
lot of the genetic counselors I got in touch with, Andrea has actually had experience
working with those diagnosed with Waardenburg syndrome although she is extremely
new to the field.
Andrea described what exactly it is that a genetic counselor does as well as what
makes a “rare” disorder “rare”. She also explained how although one person might find
some odds rather high, another patient might think those same odds are somewhat low.
In the world of statistics and 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 testing. And apparently if I were to get
genetically tested for Waardenburg’s and the tests return positive, my insurance rates
could go up drastically or I could potentially be dropped although I have never been to
the doctor requiring medical help for the disorder. To me, this is extremely disheartening
since the people who need good health insurance are usually those that are afflicted with
disorders and diseases. If a company that is supposed to protect and help those afflicted,
doesn’t; who are these individuals supposed to turn to for help?
Andrea entered the field of genetic counseling because she prefers the relationship
formed between a patient and a genetic counselor rather than the quick “15 minutes”
usually spent between doctor and patient. She also enjoys the variety of areas to work in
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regarding genetic counseling alongside working with support groups and being able to
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
genetics of the disorder. Since 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
of the questions included whether or not someone can have just a white forelock with no
other symptoms and still have the disorder or whether or not all-over graying in your
early twenty’s constitutes “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:
¾ ‘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?
Banjo: Well, I'm not sure when I was diagnosed with it. But I'm pretty certain it was
within a year of my birth date.
How did they diagnose you with Waardenburg Syndrome? (blood tests or visual
characteristics)
Banjo: 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? (EDN3, EDNRB, MITF, PAX3, SNAI2,
or SOX10)
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Banjo: Not that I know of, but it's a mild type. Only my eyes, hearing ability and hair are
affected.
Which type of Waardenburg Syndrome were you diagnosed with?
Which characteristics associated with Waardenburg Syndrome do you have?
Banjo: 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.
How severe is your hearing/vision loss or do you have none at all?
Banjo: I wear a pair of eyeglasses, I am somewhere near-sighted. I can walk around
without eyeglasses, but for driving, I like to wear one since I see better with it. Or if I go
to the movies, I wear them so the movie will appear much sharper.
My deafness is severe. I cannot hear conversations without hearing aids. I can hear drums
or deep-bass sounds at close range (probably 50-75ft).
How have you overcome this syndrome?
Banjo: I never really took issue with it. It's a part of me. Always has and always will be.
Do you find that people are accepting of Waardenburg Syndrome (if you have visible
characteristics of the syndrome)?
Banjo: 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, were there organizations established to
help educate and inform you about the syndrome?
Banjo: 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 interested in the subject, I
decided to do more research.
If you could tell people one thing that is misunderstood or not well known about
Waardenburg Syndrome, what would that be?
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Banjo: Well, there has been the occasional question of if I see differently from my eyes.
To answer that question, I would say no. However, I have noticed that if a sun is shining
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. This only happen if the sun shine into one of
my eyes. Just thought you would find that interesting.
So the doctors are not sure of what type (I-IV) of Waardenburg Syndrome you have?
Banjo: 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:
¾ Andrea Uscinski is a genetic counselor working at Brigham and Women’s
Hospital in Boston, MA. The following comes from several emails
exchanged between Andrea and me:
Chantal: (from the original email I sent)
HiI am an undergraduate student at North Carolina State University and I am
currently working on a research paper for my honors genetics class. Part of the
assignment requires us to ask a professional working in the field a few questions
about our topic of choice. I have chosen to research Waardenburg syndrome
and I am curious if you have the time to answer a few questions regarding the
syndrome?
The questions are:
¾ What exactly is it that you do?
¾ How long have you been in the field?
¾ How often do you encounter/diagnose a patient with Waardenburg
Syndrome?
¾ Which type of Waardenburg Syndrome are you most familiar with?
¾ Which type of Waardenburg Syndrome is most commonly diagnosed?
¾ What genes are related to Waardenburg Syndrome?
¾ How is Waardenburg Syndrome inherited?
¾ Does Waardenburg Syndrome affect life expectancy?
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¾ What treatments are used to treat the symptoms of Waardenburg
Syndrome?
¾ What is the most severe case of Waardenburg Syndrome you have
encountered and what were the characteristics displayed in the afflicted
patient?
Thank you for your time and I look forward to hearing from you soon :)
-Chantal Moshakos
Andrea: Maybe it would help to know my background?
I am a genetic counselor currently working at Brigham and Women's Hospital/Harvard
Medical School in Boston, MA. 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?
Genetic counseling is the process of helping 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
chance of disease occurrence or recurrence.
* Education about inheritance, testing, management, prevention,
resources and research.
* Counseling to promote informed choices and adaptation to the risk
or condition.
The above definition is the professional definition stated by the National Society of
Genetic Counselors. As you can tell from the definition it is a broad field and we work
with all kinds of patients...from the prenatal setting where we counsel families about
their chance of having a baby with Down syndrome or Spina Bifida to the genetics clinics
where we try to find diagnoses for children and adults with different conditions to areas
such as cancer where we try to find out whether people or families are predisposed to
having certain conditions
Waardenburg syndrome is a "rare" condition but there are conditions that are "rarer". In
genetics, the word "rare" takes on new meanings depending on the context. I was
fortunate enough to see a lot in my internships in the Harvard teaching hospitals because
people from all over the world with the "rarest" conditions go to 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.
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In terms of what it is like to live with the condition, different people have told me
different things. One of the surprising things in my internships is the reactions that
people have when they or their children are diagnosed with a condition. Just as "rare" is
a relative term, "risk" is a relative term. If someone told you that your risk of having
Waardenburg 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 personal experience including what you think/feel
about not having a "genetic diagnosis" and your thoughts on genetic testing in the future.
So what is the difference between a clinical diagnosis and a genetic testing result? What
is the point of a 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 other things to look out for in the future. For
Waardenburg syndrome these things include difficulties with hearing and vision. You
may have had closer screening than other people because your doctor mentioned the
possibility of Waardenburg to your parents when you were born. A diagnosis also gives a
person access to resources that they might not have. For example, if a child had learning
disabilities 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 features about a person. The key is to try
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
with other features that are consistent with 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
everyone. It is a personal decision to get tested and only one that you can make. Some
people like to know...information gives them power...other people are overwhelmed or
scared to find out they have a condition, especially if they are feeling fine. It is
something to discuss with your family and doctor. If you wanted to pursue testing, you
would probably end up talking to a genetic counselor who would be able to review your
medical and family history and discuss the pros and cons with you in detail. It would still
be up to you to decide.
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Of note, a genetic test result for a condition like Waardenburg can potentially affect your
insurance rates or coverage. 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 to a genetic counselor about in your area who
would know the way that works in your state.
Chantal: 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?
Andrea: A couple had type I and a couple fell into the "Waardenburg spectrum" meaning
that they had some of the features but either did not want to pursue genetic testing or
genetic testing did not identify a known mutation.
Chantal: Also, what drove you to choose a career in the field of genetics?
Andrea: I chose genetic counseling because I 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 get to develop a real
relationship with the people I work with.
It is a very interesting field and a very broad field because they are so many different
areas that you can work in. I have always enjoyed science and I can translate
complicated medical terms into language that is meaningful and relevant for different
people. I also love working with support groups, serving as a patient advocate, and
helping patients and families access resources.
Chantal: Genetests.org says premature graying, graying before 30, as a sign of
Waardenburg's. My Mom was all over gray by the age of 23, and I am 21 and starting to
go gray. Could this be an indicator that maybe she is a carrier of the disorder although
she has no other symptoms?
Andrea: It is possible that she is a carrier...but her doctor should be the one to diagnose
her...
Chantal: 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?
Andrea: Waardenburg syndrome is usually associated with a loss of hearing but that
doesn't mean that there aren't exceptions...again, if she asks her doctor about this he/she
may be a better person to consult as her doctor is more informed about her hearing.
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Chantal: Can someone have a white forelock without having Waardenburg's syndrome?
Andrea: YES...many people have white forelocks and many people also have premature
graying and most do not have Waardenburg syndrome
Chantal: Can someone have Waardenburg's and only have a white forelock and no
hearing loss or other symptoms?
Andrea: It depends on how you define Waardenburg syndrome...many people have
white forelocks and no hearing loss or other symptoms...this does not mean they all have
Waardenburg syndrome....do they have a mutation in PAX3? Who knows...it might be a
good study...
Chantal: Can hearing loss occur later in life progressively? 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?
Andrea: People with Waardenburg syndrome have different degrees of hearing loss...see
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
common, but there is a range and people are not exactly the same.
Chantal: Is it possible for someone to have Waardenburg's and not know it? Can
someone have the disorder and have no symptoms?
Andrea: Again, it depends on how you define Waardenburg syndrome...does it matter at
that point if they do or not? If they have no symptoms, they will never come to medical
attention.
Chantal: Are there any medications or treatments that prevent or slow down symptoms
from developing?
Andrea: I think it discusses this in the gene reviews on www.genetests.org
Chantal: How do the mutations in the certain genes lead to the different types of
Waardenburg's?
Andrea: Ah...now you are getting into the true science...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
answer this question....there are researchers dedicating their whole lives to answering this
question...but you are right in thinking that different mutations in genes affect the
function of the gene differently....our genes serve as the instructions for the body to carry
out is many functions...variations in other genes may modify the effect of gene changes
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
Chantal: If a case of Waardenburg's is not directly inherited, what causes the gene(s) to
mutate leading to the disorder?
Andrea: This is not known yet...scientists are working to figure it out...but this case is
called "sporadic" or a caused by a "new mutation"....this just happens to our
genes...sometimes it has no effect on our health and other times it does...this is part of the
reason that there are differences and variation in life...
Chantal: When someone comes to you for counseling and they (one or both parents) has
Waardenburg's, what advice do you give them about planning a family?
Andrea: I find out what they know about the condition already...try to fill in any
information gaps...and ask them what their questions/concerns are...as i mentioned
before, everyone is different and everyone handles things differently...I don't tell them
what to do...I only give them the information and support that they 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, and find out how they made their decisions.
Chantal: I have been in contact with someone who has Waardenburg's. He has a white
forelock (but is now completely gray) and one blue and one brown eye. He is also deaf.
The doctors never told him what type of Waardenburg'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?
Andrea: Yes...you will probably find out more about this in your research...I think I have
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.
Division of Genetics, Birth Defects, and Metabolism and the Genetics
Laboratory at Children's Memorial Hospital, Chicago, IL 60614, USA.
[email protected]
You can email the author for a copy of the paper
Chantal: I hope I am not bombarding you with too many questions? I am just completely
fascinated with learning more about this disorder.
Andrea: You have asked a lot of good questions...I'm happy to help...
Moshakos 19
References:
Title Page Images:
Ghorayeb, Bechara Y. Otolaryngology Houston. 26 Aug. 2007. 25 Oct. 2007
<http://www.ghorayeb.com/Waardenberg.html>.
Karaman, Ali., and Cihangir Aliagaoglu. Waardenburg Syndrome Type 1. 2006. 25 Oct.
2007 <http://dermatology.cdlib.org/123/case_presentations/waardenburg/karaman.html>.
PART A:
Ezzell, C.. "Hearing Gene." Science News 141.18 (1992): 296-297.
McKusick, Victor A. WAARDENBURG SYNDROME, TYPE III; WS3. 29 Mar. 2006.
25 Oct. 2007 <http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148820>.
Milunsky, Jeff M. Waardenburg Syndrome Type I. 19 Apr. 2007. 25 Oct. 2007
<http://www.genetests.org/servlet/access?db=geneclinics&site=gt&id=8888891&key=H
O49awy6QiCQl&gry=&fcn=y&fw=H5h2&filename=/profiles/ws1/index.html>.
National Institute on Deafness and Other Communication Disorders (NIDCD).
Waardenburg Syndrome. 16 Apr. 2007. 25 Oct. 2007
<http://www.nidcd.nih.gov/health/hearing/waard.asp>.
Polzin, Scott J. Waardenburg Syndrome. 2002. 25 Oct. 2007
<http://www.healthline.com/galecontent/waardenburgsyndrome#waardenburgsyndrome>.
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. Apr. 2006. 25
Oct. 2007 <http://ghr.nlm.nih.gov/condition=waardenburgsyndrome>.
PART B:
Boys Town National Research Hospital. Information on Hearing Loss - My Perspective
as a Deaf Person Working with Geneticists.. 25 Oct. 2007
<http://www.boystownhospital.org/Hearing/info/genetics/perspectives/my_perspective.as
p>.
Kahn, Alice. About WS. 2007. 25 Oct. 2007
<http://www.units.muohio.edu/waardenburgsyndrome/aboutws.htm>.
Moshakos 20
Miami University's Speech and Hearing Clinic. Story From A Teenager with WS. 2007.
25 Oct. 2007 < http://www.units.muohio.edu/waardenburgsyndrome/teenagerstory.htm>.
Miami University's Speech and Hearing Clinic. Tom's Story. 2007. 25 Oct. 2007
<http://www.units.muohio.edu/waardenburgsyndrome/toms.htm>.
Society to Aid the Hearing Impaired. Hearing Impairment Problems and Solutions. 2007.
25 Oct. 2007 <http://sahiearcare.org/hips.htm>.
U.S. National Library of Medicine (USNLM). Waardenburg Syndrome. Apr. 2006. 25
Oct. 2007 <http://ghr.nlm.nih.gov/condition=waardenburgsyndrome>.