Volume 9 No. 1 Summer 2004
30 East 72nd Street New York, N.Y. 10021
Tel: 212 452-1231 Fax: 212 452-1406 E-Mail: ipif@ipif.org
Web Site: http:/imgen.bcm.tmc.edu/IPIF
Susanne Bross Emmerich, Founder & Executive Director
LETTER FROM THE EXECUTIVE DIRECTOR
In
keeping with my previous assumptions that those who read
this newsletter are most interested in learning the latest
news in the field of research of IP, I have asked David
Nelson, Ph.D., of Baylor College of Medicine (a leading
researcher in the IP International Research Consortium) to
write an article on the current work being done in
research, now that the gene has been identified. His
laboratory assistant at the time the Nemo gene was
identified has left the laboratory and Dr. Christine Shaw
has taken his place. Dr. Nelson has written a short
biography of Dr. Shaw which I think you will find
interesting.
I also have requested Ashley Badgwell, MS to do an update
on the Natural History Project that was started in 2003.
Ms. Badgwell, who conducted the survey and compiled the
results, has now done an update. This is a project which
will continue for many years to come and we will report
updates on current findings periodically in this
newsletter.
I was delighted that IPIF was the recipient of some very
imaginative fundraising projects. I’ve asked those whose
events these were to write stories about them. It is hard
to describe how very grateful IPIF is for the time and
effort that went into making sure that these undertakings
were successful.
CONTENTS
Dr. Christine Shaw
Krispy Kreme Donut Sale
Holiday cheer With a Purpose
Nick & Toni’s Celebration
To Find a Good Doctor.
How to Get Treated Like a Doctor
Photographs
Need for Funding
IP NATURAL HISTORY UPDATE
Ashley Badgwell, MS and
Judith Willner, MD
Mount Sinai School of Medicine
Last
spring, a summary of the Incontinentia Pigmenti Natural
History Study was published in this newsletter. For those
of you unfamiliar with the project, Dr. Willner, Director
of Clinical Genetics at Mount Sinai School of Medicine and
I, then a graduate student at Mount Sinai in New York City,
saw the need for an IP natural history analysis based on
physician and patient reports. A questionnaire was
developed to assess the affected individual’s experience
with IP. It was sent to IPIF members, with the help of
Susanne Emmerich and made available on the website. As of
March 2003, 152 completed surveys were returned and
included in our initial analysis. Since that time, we have
received 42 additional completed surveys, bringing the
total number of participants to 194. Again, we are very
grateful to those who participated. In this article, we
present an update of the data along with a discussion of
interesting findings.
First, a review of the statistical tools employed in the
analysis may help readers to better understand the data and
appreciate the importance of sample size. We understand
that the 194 people included in this study represent only a
fraction of the worldwide population with IP. Of course, as
the number of participants increase, our understanding of
IP becomes more accurate. Because of the nature of our
data, we decided to use 95% “confidence intervals” to
determine the statistical significance of the findings. The
definition of confidence interval is “the range within
which the true magnitude of effect lies within a certain
degree of assurance”. In this study, you will find the
confidence interval as two numbers in parentheses,
following a frequency or average. For example, when you
read that 49% (45%,53%) of the participants in this study
have misshapen nails, that means that we expect that the
true percentage of all people with IP that have misshapen
nails to be between 45% and 53%. The new responses are
fairly consistent with the data we presented in March 2003.
However, now that the study includes almost 200 people, the
confidence intervals are smaller, indicating we are closer
to understanding the true natural history of IP.
Demographics of Participants Approximately
75% of the responses were from the United States, and the
remaining were from 16 other countries. The majority of the
participants reported “Caucasian/ Western European”
descent, but others described themselves as “Asian”,
“Hispanic”, “Ashkenazi Jewish”, “Middle Eastern”, and
“Native American”. No males with IP have been reported
since the one case included in the last summary. The
participants continued to range fairly evenly in age from
10 months to 77 years. 40% surveyed reported at least one
other family member with IP. Questionnaires were received
from multiple members of 21 families.
The average age of diagnosis was again found to be 3.5
years, but this is misleading because the range of age of
diagnosis was so large: 68% were diagnosed within 3 months
of age (26% “at birth”); about 21% were diagnosed between 3
months and 5 years; and the remaining 11% were diagnosed at
17 years or older, usually after the birth of more severely
affected children or family members.
As previously, 61% were diagnosed on the basis of clinical
findings; 51% had their diagnosis confirmed or made
originally by skin biopsy; and 18% had DNA testing and were
found to be positive for the common NEMO mutation..
Skin Involvement 96%
(95.5, 96.5) reported having experienced the first stage of
the newborn rash, consisting of vesicles (“blisters”). The
average age the rash disappeared was 11 months (9 months,
14 months). Of the 44 individuals who reported more than
one occurrence of stage 1, the average number of
occurrences was 4 (2.6, 5). 97% reported experiencing
vesicles on their arms and legs and 86% also experienced
this rash on the stomach, groin and/or scalp.
Experiencing the second stage of the rash, dry, raised,
wart-like lesions, were 72% (69%, 75%) of the responders.
The average age for the clearance of this phase was 16
months (12.5 months, 19 months). For those who experienced
recurrence, the average number of recurrences was 2 (1, 3).
However, this number may be misleading as 20% reported
“several” or “many”. 68% also had this rash other body
parts including the stomach, groin and/or
scalp.
The frequency of the third stage, consisting of flat, red
or gray colored patches of skin, was found to be 84% (82%,
86%). The age of disappearance was 11 years (8.5 years,
13.5 years). Only 2 people reported recurrence of this
stage. 85% of responders reported experiencing this stage
on their extremities and 82% reported also having
discolored skin patches in other areas.
In the final and fourth stage, pale areas of skin and
patches of hairlessness occur. 71% (68%, 74%) reported
experiencing this stage. Many adults indicated that this
stage was still present. Among those who reported
resolution of this stage, the average age of disappearance
was 21 years (17 years, 25 years). Recurrences were rare.
92% had this stage on their extremities and 52% had other
areas involved as well.
Scalp/ Hair Symptoms 66%
remains the frequency of participants reporting bald spots.
For 94%, these hairless patches were on the crown of the
head. 40% said they have “wiry” patches of hair on the
scalp.
Nail
Symptoms 49% (45%,
53%) experienced ridged or otherwise misshapen nails.
Additionally, 14% (12%, 16%) reported having tumors under
their nails.
Dental
Symptoms Dental
involvement was reported in 92% (88%, 96%).. Of the
patients over the age of 14 years, 32% (28%, 36%) reported
the continued presence of deciduous (“baby”) teeth. 60%
(56%, 64%) of patients reported that their deciduous teeth
were late coming in, and 59% (54%,63%) of patients reported
their permanent teeth were late coming in. 63% (59%, 67%)
had deciduous teeth that never came in and 82% (79%, 85%)
had permanent teeth that never came in. The average number
of missing deciduous teeth is 5 and the average number of
missing permanent teeth is six. 68% (65%, 71%) of patients
had some deciduous teeth shaped like pegs or cones, 67%
(64%, 70%) had permanent teeth shaped like pegs or cones
and 18% (16%, 20%) had teeth that were abnormally
vulnerable to decay.
Eye
Problems As with
the previous summary, to analyze the ocular findings, we
compared the occurrence of eye problems in people with IP
to that in the general population. In this survey, 9% (8,
10%) of IP patients reported strabismus ("cross eyes" or
"lazy eyes"). This is more than two times greater than that
observed in the general population (4%). Bilateral
blindness was also reported in 3% of our patients, which is
more than four times greater than that seen in the general
population (0.7%). Unilateral blindness was found in 8% of
reporting patients. Congenital cataracts were seen
twenty-five times more in our patients (5%) than in the
general population (0.2%), and retinal detachment was seen
thirty times more in patients surveyed (9%) than in the
general population (0.3%). For other eye abnormalities
associated with IP such as problems with the vessels of the
eye, no general population risk could be found. Based on
our findings, IP patients are not more likely than the
general population to suffer from astigmatism, myopia,
amblyopia or obstructed tear ducts.
Skeletal
Symptoms Skeletal
abnormalities found in previous studies were thought to be
coincidental, and not likely to be associated with IP. In
this study, patients were asked to describe any skeletal
problems. Altogether, skeletal anomalies were reported by
18% (15%, 21%) of patients. Skeletal anomalies that were
reported include scoliosis, leg asymmetry, improper hip
alignment, and mandibular (lower jaw) anomalies.
Breast
Symptoms Breast
abnormalities have been associated with IP.
Approximately
8% of the patients queried reported a breast abnormality.
Extra nipples were reported in 3% of patients. Other
reported breast abnormalities include inverted nipples and
breast asymmetry.
CNS Involvement Central
Nervous System disorders present the greatest threat to a
normal life for IP patients. CNS involvement can range from
spastic quadriplegia and mental retardation to seizures.
Altogether 50, 26% (23%, 29%) patients included in this
study, reported CNS involvement. This is comparable to the
frequency (30%) suggested by previous studies. However,
this number may be misleading as 85% of patients surveyed
have normal development, with normal mental and motor
function. See Table1.
The frequency of each CNS disorder is as follows: learning
disabilities were reported by 14% (12%, 16%); a brain
abnormality detected by CT scan or MRI was reported by 13%;
(average age of diagnosis 6.7 years), newborn seizures were
reported by 18%; mental retardation was reported by 7.6%;
an IQ less than 70 was reported by 8%; cognitive delays
were reported by 6.8%; spastic paralysis was reported by
4.4%; microcephalus (abnormally small head) was reported by
5%; motor delays were reported by 3.8%; hemiparesis
(paralysis on one side) was reported by 2.7%; and hearing
loss was reported by 1.5%. Some patients experienced more
than one CNS disorder.
It has been suggested that IP patients who experience
newborn seizures are likely to have a poor prognosis. In
this study, approximately 64% of patients who experienced
seizures reported another CNS disorder, such as mental
retardation or learning disabilities.
Of the 20 subjects who reported a brain abnormality
detected by CT scan or MRI, 14 (70%) reported experiencing
mental/ motor delays or retardation and 11 of the subjects
with brain abnormalities (55%) reported ophthalmologic
problems including strabismus, retinal detachment,
cataracts and blindness. Only 2 of the 20 with a
radiologically detected brain abnormality did not have
ophthalmologic problems or neurologic impairment. The
average age of diagnosis of a brain abnormality was 15
months. Only two patients with radiologically detected
brain abnormalities described the type of abnormality
(“abnormal myelination” and “mild left cerebral hemispheric
atrophy”). Larger numbers of patients are needed to define
the association between brain abnormalities seen on CT and
MRI and abnormal development.
Genetic
Test Results Chromosome
analysis was performed on 32% of patients. All but two,
reported normal female chromosomes (46,XX). Of those who
had undergone DNA mutation testing and knew the result of
the test (26% of total surveyed), 82% had tested positive
for the common NEMO mutation, 16% had tested negative for
the common mutation, and one patient’s DNA test was
inconclusive. Of the 5% who had participated in linkage
studies, linkage was informative in 60% of patients, and
not informative in the remaining 40%. Of the 4% who had
participated in X-inactivation studies, X-inactivation was
skewed in 86% (six patients), and random in the remaining
14% (one patient). Interestingly, all six patients who
reported skewed X-inactivation tested positive for the
common NEMO mutation and the person who had random
X-inactivation tested negative for the common NEMO
mutation.
Pregnancy Loss One or
more miscarriages were experienced by 42% (37%, 47%) of
women with IP.This is significantly higher than the average
number of recognized miscarriages for the general
population (3-15%, depending on trimester and maternal
age.) The majority of these miscarriages were in the first
trimester and the fetal gender was unknown. While 29% of
fetuses were determined to be male, 2 (3%) were known to be
female. These data suggest that women with IP are more
likely to miscarry than the general population. Although
for the majority of miscarriages the gender is unknown,
these data confirm the observation that for IP patients,
male fetuses are more likely to miscarry than female
fetuses.
However, we also inquired about miscarriages experienced by
the mothers of IP patients, whose IP status ranged from
positive to negative to unknown. We found that 43% (39%,
47%) of IP patients’ mothers had experienced at least one
miscarriage. As with the IP patients, most of the
miscarriages occurred in the first trimester and the sex
was unknown. Interestingly, the mothers without IP were as
likely to miscarry as the mothers who had IP. It is
possible that these mothers unknowingly have very mild IP,
or they have a mixture of IP and non-IP cells (“somatic
mosaicism”). DNA mutation testing of mothers of IP girls
could resolve this question and provide more accurate risk
assessment for genetic counseling.
Conclusion
Despite
the inherit limitations of a patient-reported study, there
were sufficient responses to draw meaningful conclusions.
In general, the recent data are similar to the original.
However, since our sample size has increased almost 30%,
the data are more reliable and more accurately reflect the
clinical experience of IP.
For most systems, our findings are fairly consistent with
what has been previously reported. However, with regard to
CNS involvement, our study indicates that more severe cases
have previously been over-represented in the literature.
The large literature search performed in 1976 suggested
that one out of four children born with IP would have a
major CNS anomaly such as mental and/or motor retardation.
Although almost 30% of the patients in our study reported
experiencing some
CNS
involvement, approximately 10% reported serious problems of
the central nervous system such as mental retardation,
motor retardation, and/or chronic epilepsy. Another 10%
experienced milder CNS symptoms such as a learning
disability, slight speech delay or an eye problem like
strabismus. And the remaining 10% who experienced CNS
involvement, had newborn seizures or detectable brain
abnormality on radiologic study, but were developmentally
normal. Although these “mild” problems are not
insignificant, the risk for grave CNS problems is likely
much lower than previously estimated.
As more surveys are returned, we will continue to update
our database. We are grateful to Pamela Callum for her help
with the database. And, again, we appreciate the effort of
the families who sent records and photos and took the time
to complete our survey.
RESEARCH UPDATE
David L. Nelson, Ph.D.
Baylor College of Medicine
Research
is progressing in a number of areas to understand the
causes and consequences of Incontinentia Pigmenti. These
areas can be divided into characterization of the NEMO
protein’s normal functions, determining the consequences of
its absence in model systems, and understanding the various
mutation types and how they exert their effects.
Several laboratories have been working to describe the role
of NEMO in cells and tissues. Among the most interesting
findings has come from the realization that NEMO plays a
role in cells’ responses to DNA damage. These studies have
helped to define parts of the protein that participate in
these responses, how they respond through modification, and
to better understand the impact of mutations in these
regions.
One of the most useful tools available to geneticists is
the laboratory mouse, which can be manipulated to carry
mutations similar to those found in human diseases. Several
models of Incontinentia Pigmenti have been described, and
these continue to be studied. Unfortunately, these do not
model the disease particularly well, since female mice
appear to clear the mutant cells more effectively than
human females. To get around this problem, groups are in
the process of making mice in which the mutation can be
introduced later in development and/or in specific tissues.
These should allow better definition of the effects of the
IP mutation in various tissues.
Finally, new families with unusual mutations, in addition
to those with the common deletion mutation, continue to
come to the attention of researchers. These mutations help
to define the parts of the NEMO protein that are important
for function. In addition, more mutations that lead to the
ectodermal dysplasia and immune deficiency disorder have
been defined. Again, these help researchers to understand
the role of different parts of the protein. The origin of
the common mutation, and of the unusual structure of
the NEMO gene
and pseudogene continue to be investigated. This structure
can be found in chimpanzees and gorillas, suggesting an
ancient origin. Of interest is the role of this structure,
and of variation in the structure in the human population,
in generating the common deletion mutation found in some
80% of patients with IP.
This remains an exciting time in IP research, with advances
being made on several fronts. Each of these areas of basic
research can be expected to lead to improved diagnosis,
better understanding of the normal role of NEMO, and
possibly to improved treatment and prevention.
Dr.
Christine Shaw
Baylor College of Medicine
Dr. Shaw
is currently in the process of identifying novel mutations
in the NEMO
gene in
patients with Incontinentia Pigmenti (IP). Additionally,
she is studying the expression pattern of the Nemo protein
in various tissues throughout development in the mouse.
Dr. Shaw is a graduate of the University of Wisconsin,
where she received a B.S. in Genetics in 2000. She attended
graduate school at Baylor College of Medicine in the
department of Molecular and Human Genetics.. There, her
thesis work in the laboratory of Dr. James Lupski involved
study of the mechanisms of genomic rearrangements involving
proximal chromosome 17p, including the Charcot-Marie-Tooth
disease type 1A and Smith-Magenis syndrome regions. She had
an illustrious career as a graduate student, contributing
to over one dozen peer reviewed publications, including one
on Incontinentia Pigmenti that resulted from her short
rotation in the Nelson laboratory in her first year. She
received her doctorate in April of 2004 and began a
postdoctoral position with Dr. David Nelson shortly
thereafter.
KRISPY KREME DONUT SALE
Paige Ryan
Seattle, Washington
I
forwarded a check to IPIF in the amount of $250, the
profits I realized from my sales of Krispy Kreme donut
sales. I intend to try and do another fundraising event in
the near future for IPIF. I realize that $250 is not very
much money, but I wanted to start small as I have no
experience in fundraising. Actually, I found it very fun
and easy and am looking forward to raising more substantial
sums for IPIF.
How did I come up with my idea? It was really easy. I have
been wishing for some time that I could contribute in a
more substantial way towards finding a cure for IP. I have
long thought that this would be the most substantial gift
that I could give to my oldest daughter, who was born with
IP. She has many years ahead of her until she is of
childbearing age; yet, inevitably that day will be here and
I very much hope that a cure has been achieved by then. My
husband and I make our most substantial charity donation to
IPIF, yet I very much wanted to do more than we alone could
afford.
I went to Krispy Kreme one day with my daughters (a typical
cold rainy Seattle day and we needed indoor amusement to
watch the making of the donuts. I saw flyers on a table
explaining how to raise funds for non-profit organizations
and took one. I thought about it for a long time instead of
acting; the initial outlay of money had to be mine, and
finances were a bit tight; I was worried about being stuck
with $250 worth of Krispy Kreme cards. However, donuts are
really hot commodities! I purchased 20 Krispy Kreme cards
at $10 each, and then resold them for $20 each, a net
profit of $10.00 per card. Each card allows the purchaser
to get a free dozen donuts for each purchased, up to a
maximum of 20 times. At $6 a dozen, that means the
purchaser gets $120 of donuts for $20. This is a great deal
for people who often purchase snacks for work, clients,
neighbors, preschools, scouting trips, etc.... Krispy Kreme
has less expensive options as well.
I planned to go door to door through my neighborhood but
had no need as all my friends bought all 25 cards, and felt
like they got a great deal. I plan to buy more Krispy Kreme
cards and go door to door, and also give them as Christmas
gifts. There are also restaurants who advertise having
"benefit nights" and “donute” a certain percentage of
proceeds to a given charity; I am thinking of trying one of
those next. In the meantime, I hope to send IPIF more money
soon!
HOLIDAY CHEER WITH A PURPOSE
Amy Stuursma
Grand Rapids, Michigan
We have a
daughter, Hannah, who is four years old with IP. She was
diagnosed three weeks after birth by skin biopsy, and later
by genetic testing. She is doing very well and lives a very
active and healthy life. We are very thankful for that, but
continually feel like there is not much we can do to help
others afflicted with this disorder. One challenge we are
constantly faced with is the fact that Hannah will be
dealing with the ramifications of IP as she decides to have
her own children. The only way we feel we can support her
in this situation now is to help raise money that may
support future research and advanced prenatal testing
possibilities.
Every year we have group of twelve couples that gets
together for a holiday progressive dinner party. As with
many holiday gatherings, many of the couples bring host and
hostess gifts to the party. Two years ago we decided, as a
group, to use the money we would have spent on those types
of gifts and donate it to a charitable organization of the
host and hostess’ choice. This year the dinner portion of
the evening was held at our home, therefore we chose IPIF
as the charitable organization for the evening.
Using
much of the information from the newsletter, I created a
form explaining IPIF and the need for funding. I sent a
form to each of our friends attending the evening noting
that IPIF was to charitable organization for the evening.
Much to our surprise, most of the couples that attended the
event donated a generous amount to IPIF. In addition,
everyone had a wonderful time enjoying friendship and the
holiday season.
We cannot thank our dear friends enough. We know that this
donation to IPIF is just the tip of the iceberg for what is
really needed to continue further research. But, it did
encourage us, and hopefully some of you, to take on small
fundraising efforts to support our children and their lives
with IP.
NICK
& TONI’S CELEBRATION
Nick
& Toni’s is one of the most popular restaurants on the
East end of Long Island in New York State in an area known
as “The Hamptons”. All summer it is overflowing with
socialites, movie stars, and business tycoons as well as
ordinary folks. As you may have read, in previous
newsletters over the years, the owners have very generously
given one night a year to raising funds for IPIF. This year
the restaurant celebrated it’s 15th
anniversary
with a big party, open to all, as a fund raiser benefiting
3 charities, one of which was IPIF. They charged $100 to
enter where one was then able to have drinks, food, dance
to a great band, and best of all, children were
particularly welcome and were encouraged to join in the
dancing. An amazing 600 people showed up. Articles were
written about it in several newspapers and it was a rousing
success for all.
JEANS DAY
Ontario,
Canada
CGI, a
technology company in Ontario Canada, has a program to
raise funds for charities. Each Friday they have “Jeans
Day”. This means that everyone in the company is allowed to
wear either jeans or casual clothing to work. For this
privilege every employee that chooses to participate must
donate least $2.00. I am told that frequently more is given
voluntarily. Each month a different charity is chosen.
In April, IPIF was the lucky recipient, having been
suggested by a woman employee who has IP as do both of her
daughters. This contribution came as a complete surprise as
our benefactor was not known to us, but had been following
the IP web site, had kept abreast of new developments, and
was reading our newsletters on line. A most welcome check
of $851 Canadian dollars was sent to IPIF. Happily now she
is on our mailing list and is a member of IPIF.
TO
FIND A GOOD DOCTOR, ASK A NURSE: ADVICE FROM MEDICAL
INSIDERS
The doctors have a lot to say about medical care.
Several doctors said that most important thing you can do
for your own health is to build a relationship with a
primary-care doctor -- something many doctors themselves
fail to do. It's important to get a doctor before an
emergency arises. A person shouldn't put it off because he
feels healthy. In an emergency, one gets better care faster
by saying, 'I'm Dr. Blank's patient...'
Patients should find a doctor who has hospital privileges
at a respected teaching hospital generated a slew of
responses from doctors. A number of physicians agreed with
my argument that finding a doctor affiliated with teaching
hospitals adds one more layer of assurance.
But several doctors, including a handful who practice at
university medical centers themselves, argued that not
every teaching hospital or doctor who practices there lives
up to the reputation. Others informed me that they wouldn't
choose a teaching hospital for their regular care.
Academic hospitals are not for everyone. They are often
more research- and resident-training-friendly than
patient-friendly. Go to a community-based hospital that is
service-oriented for most medical problems and save my
referrals or personal visits to the teaching hospital for
rare or unusually complicated medical problems.
A tip for choosing the right hospital: visit a potential
hospital to see if the emergency room operates
efficiently," he wrote. "Is the hospital kept clean, do
small items like water fountains and the floor indicators
on elevators work?" Find out if the nursing service is
fully staffed,
as well.
Indeed, several doctors focused on the importance of
nurses. When choosing a hospital, it need not be a
medical-school teaching hospital but more importantly one
with a good nursing staff, It is not doctors who get people
well, it is the care of the nurses that get people
well.
Ask nurses for recommendations when looking for a doctor or
a surgeon. Nurses, in operating rooms and on hospital
floors, see everyone in the course of their work, and know
as well as or better than anyone which doctors take good
care of their patients and which do not. And don't call an
administrative type. Find a nurse who works evenings or
nights and spends time taking care of sick patients: ask
where she would send her mother. Patients having surgery at
a university medical center first call the department of
anesthesiology. Very firmly state that you would like to
have the chief resident personally give you your
anesthesia, The chief resident, who is always excellent,
even at crummy programs ... will be flattered, and you'll
be treated like a VIP, with top priority.
Several doctors agreed that teaching hospitals are best
avoided for elective care during July and August, when
students are new and chaos reigns, but others suggested
staying away in June as well, when many residents take
vacation. Others said most hospitals are best avoided
around holidays as well, because they tend to be shorter
staffed.
The most surprising responses focused on my advice that
patients ask to see their medical records. A number of
doctors disagreed, saying the records belong to the doctor
or hospital and noted that a patient who seems overly
inquisitive about medical records could be viewed as a
potential litigant.
But while the original medical records may legally be the
property of the hospital or doctor, a good doctor believes
the information belongs to the patient, and will provide
copies at no cost and with little hassle.
Several doctors shared their own frustrations with the
medical system, proving the point that doctors, like all
patients, must be diligent in seeking the best care.
Houston obstetrician Mark Jacobs says his own experiences
as both a patient and a doctor have taught him that once
you've chosen the best doctor and the best hospital, you
still need to pay attention to the care you or your family
member receives.
"Always have a family member stay with you during a
hospital stay," wrote Dr. Jacobs. "If things don't seem
like they are going well, there's a strong likelihood that
they aren't. Do not be afraid to speak up and don't be
afraid to ask for a second opinion."
Several doctors argued that knowing where a doctor went to
medical school is just a start. The best way to assess the
quality of a doctor is by word of mouth: Ask other doctors,
nurses and patients. A good doctor earns a good
reputation.
The most important thing is trust in a physician, and being
able to communicate with him or her in good times and
bad.
HOW
TO GET TREATED LIKE A DOCTOR WITHOUT GOING TO MEDICAL
SCHOOL
Look At the Frames on the wall.
Doctors
want to know where this doctor went to Medical School, do
they have a state license and if board certified what
Doctors did they train with. If they trained with a top
doctor they will brag about it.
Choose a hospital as well as a doctor.
Most
doctors look for a doctor who has privileges at a
medical-school teaching hospital. These doctors have been
through a filter of questions that the average patient
can't ask. Best hospitals usually mean best doctors.
Ask your doctor how many times they've performed a
procedure. If your
going to have a procedure done you want experience from
doing this over and over again.
Pay attention to small details. Does
the doctor talk to you during the exam, explaining what
they hear or see? Does the doctor listen or interrupt your
answers?
Ask to see your medical records
These
belong to you. Doctors always look at their records. Ask
for a copy of the doctor's notes and all correspondence
between their primary-care doctor and specialists.
Come prepared
Have an
agenda. Specific questions and concerns written on a note
pad. Bring someone with you to help because these sessions
tend to be very stressful and things get forgotten.
Know when to schedule appointments
Early in
the day staff are alert and the appointment should be on
time. Doctors never schedule elective surgery in July or
August when inexperienced medical students begin their
residencies plus hospitals tend to be chaotic at this time.
Make nice with the staff
If they
like you, it's amazing how you can get worked in. Check out
the doctors who provide coverage for your doctor
When your doctor is not available who and what calibre of
doctor is replacing her/him.
Ask a doctor where they would send their mother
They are
going to entrust only the best for their family.
NEED FOR CONTRIBUTIONS AND FUNDING
IPIF is
grateful to its supporters for their ongoing
generosity.
IPIF needs
your contributions now to continue its valuable work, the
services it provides, as well as funding the expenses of
the International IP Research Consortium.
Raising funds for a rare disorder is extremely difficult.
Most public foundations wish only to fund the larger,
better known health organizations, usually those which are
receiving the most publicity.
As ground-breaking as the identification of the gene NEMO
that causes IP was, there were no newspapers in the U.S.
willing to
carry the story. Even government agencies have refused
financial support. Therefore,
it is up to the families, friends and relatives of those
with IP to help.
If you have not yet become a member, or have not renewed
your membership please consider doing so.
Several individuals have taken the opportunity to make a
gift in honor of a loved one, in memory of a deceased
friend or to send in a contribution to celebrate a special
occasion such as a birthday, anniversary, graduation, etc.
When such a contribution is made a letter is sent to the
family being so honored, acknowledging the contribution
which is tax deductible. One may also consider giving a
fund-raising event such a tea party, cocktail party,
auction, etc.
Please keep in mind that whatever the reason for your
interest your contribution is most important.
The information provided in our newsletter should not
be substituted for personal, professional advice. It is our
intention to keep you informed and ask you to always check
any treatment with your physician.
The
INCONTINENTIA PIGMENTI INTERNATIONAL
FOUNDATION,
INC.
(IPIF) is a
non-profit organization whose main mission is education,
family support, and encouraging and supporting research.
Membership
is automatic with your contribution.
Membership
privileges include:
•
Newsletter
• Reports on fund-raising events.
• Articles written by IPIF members, SAC physicians, genetic
counselors, and all other relevant IP news.
• Reprints of articles about IP from medical journals.
• Telephone and e-mail access to IPIF personnel.
I am interested in Incontinentia Pigmenti as a:
______Individual with IP
______Parent
______Relative
______Friend
______Physician
______Research
______Genetic Counselor
______Other
______Please send me additional information.
______I would like to be in touch with other families.
Yes, I wish to make a tax-deductible contribution and
become a member:
__$25 ___$50 ___$100 ___$250 ___ $500 ___Other
Please make checks payable to:
IPIF
Mail this form to: 30 East 72nd Street
16th Floor
New York, NY 10021
NAME__________________________________________
STREET________________________________________
CITY___________________________________________
STATE________ZIP_______COUNTRY________________
TEL:___________________FAX_____________________
E-MAIL_________________________________________
All contributions are tax deductible.
IPIF is a 501(c) 3 organization, duly organized as a
Not-For-Profit Type B Charitable Organization under the
laws of the State of New York.