Coordinator Comment
As autumn approaches,
we need to take a moment to appreciate the changes of each season. I like spring, for its newness, summer for
the heat to swim, autumn for its colors and winter for the chance to be snowed
in. All Blessings!!
INTRODUCING A SIP
I am 23 years
old and I just found out that I have Stickler syndrome. Elementary school was
absolutely horrible for me. I was teased constantly. I had lost some hearing and wore a hearing aid and they were the
big bulky ones. I used to take them off as soon as I left the house, and took
off the horrible glasses they wanted me to wear. I had a wandering, blind eye
because of three retina detachments and a cataract. And to make matters worse
my step-mother cut my then very red hair to almost two inches long and had it
permed. How yucky!!
In my first year of high school I had an operation to straighten my eye. It
turned out wonderful and nobody would know I was blind unless I told them. I am only slightly nearsighted and wear
glasses when I feel I need to. My hearing is a little off but I do fine without
a hearing aid now. I was
expecting high school to be a breeze compared to elementary school. Not so!!
My facial features became very prominent in high school-my small chin, the flat
face, the very small nasal bridge and I had to wear braces now!! Kids can be
cruel but high schoolers are just plain nasty!!
A couple of years into college, I came to Texas from Canada and met the man I
would marry. He is wonderful and we are living a dream as far as I'm concerned.
We had our first child just three months ago and I was devastated to learn that
she had a cleft palate. I was almost crushed when I found out about Sticklers.
Then I realized that we had an advantage with
her. Early prevention!! Her hearing has been screened and she has passed, she
is slightly near-sighted and she looks just like me as far as the facial
features and long bones go. I am determined to overcome any obstacle we can and
to teach her she may look a little different and do things differently than
others but she can achieve anything she wants to. She is my pride and joy and
the most beautiful baby I've ever seen.
Now that I know about Sticklers, everything in my life now makes sense. I have
found wonderful support through SIP and I finally feel like I fit in. I am an attractive young woman and I feel
very confident in myself now. Kids can
sometimes be mean and make a lasting impression on someone for a life time and
that's why I'm going to take every opportunity I can to teach my daughter
caring, compassion, strength and that she is the key to her own happiness.
I pray at least one person finds strength in my story and knows you are not
alone.
Krista
FEELING GENEROUS???
SIP is a member of the Genetic Alliance (formerly the
Alliance of Genetic Support Groups) and they have requested 300 copies of our
brochures. These will be distributed at
exhibits at the American Society of Human Genetics, National Society of Genetic
Counselors, and American College of Medical Genetics meetings. SIP is
offering you a REAL way to “hands on” prevent blindness. Obviously, the more persons who are
diagnosed, the more detachments are prevented.
Please contact us, if you are willing to have the copies made and to
mail them. The cost would be about $25
for each set of brochures and we have 3 different approaches.
HELPFUL HINTS BOOK
About a year ago, we
requested that you send Nancy Barry your ideas for making life with Stickler
syndrome easier. Nancy has worked so hard to collect the ideas in
this book. It is indexed and is a super
support tool. If you want a copy, send
$5 to SIP at her address: 20 Sunset Ct, Fowler, IL
62338. Or e-mail her at: nbarry@adams.net
Also, Nancy hopes to
put out a new edition when she gets enough ideas. So, send your hints for a future publication.
NEW IDEA ??????
Think, in advance, of persons you NEVER can
find the right gift for. Send SIP a
donation for the scholarship fund, in their honor.
We do have some volunteers to start the
conference scholarship project. News of
that will be in later newsletters. For
now, remember to use this website for all your on-line buys: IGIVE: http://www.Igive.com AND that it pays SIP
money. So far, IGIVE has sent over $400
to SIP!!
NEWS FOR 2001
Barb
is HARD at work making plans for the conference in Montreal. She has booked the Holiday Inn Pointe-Claire www.holiday-inn.com/hotels/yulpc for July 6-8. 2001. Start your planning now and REMEMBER that
the American $ goes a lot further in Canada!!!!
NEWS FROM SSAS
Glenda is working toward a “get together” for Aussies. She has a great idea of using Cabbage Patch
Kids (with glasses) to illustrate a child with Stickler syndrome.
From
ANOTHER SUPPORT GROUP
One of our new
members has heard
excellent comments about sip from the geneticist and the retina doctor who were at the Denver
conference. When she got the Sticklers
diagnosis, she was prepared, because she was educated. The geneticist told her
he had met so many Stickler families at the conference that were just wonderful,
nice and normal. Then Rick gave her the retina doctor's name that spoke, so she
would have one "on hand." He told her the same thing. He said SIP were great people.
Stickler - The Elusive Syndrome
This book, written by Wendy Hughes, explains, in layman terms, the condition, possible medical problems, and
how it can affect individuals. The
approach is positive and leaves the reader with hope and skills to manage
Stickler syndrome.
Wendy’s
book is available for $28.50 payable to Stickler Involved People. The cost
includes exchange to British pounds, shipping and handling. Send requests to: Stickler
Involved People, 15
Angelina, Augusta, KS 67010
Excitement in the Air
Dr
Stickler contacted SIP, having some time and energy. He is now working toward one of our dreams,
to find or start clinics specifically for Stickler syndrome patients. He is
looking to find the “experts” in practice, who are familiar with
Stickler syndrome and may be willing to start a clinic format. At the least, he feels we will have a list
of doctors whom we do not have to educate.
FROM THE LIST SERVER
“I've been told that ENTs are trained
primarily to fix problems, either medically or surgically. Apparently the
emphasis is not so much on "WHY do you have this particular problem",
but "WHAT SHOULD I DO to take care of it". This explains why ENTs
basically throw up their hands when presented with permanent hearing loss. It's
not fixable.”
A member, with a lot of sinus and ear infections, was told that Stickler
sinuses are flattened and don't drain normally. She recommends the following website:
http://www.sinuscarecenter.com/”
A diagram called an Amsler grid, which can be used
for emergency eye exam (to reassure
until the doctor calls) can be found, with instructions for use: www.retinas.com/ V1R3/Information/MacInfo.htm
RESEARCH NEEDS MORE MEMBERS
“I'd like to thank all who expressed an interest in my
research project, a survey of audiological findings in connective tissue
disorders. As of today, I've sent out a total of 19 surveys.. about one fifth
to one third of the total number of surveys I'd like to collect. The surveys
are designed to screen for a variety of risk factors for hearing loss and
connective tissue disorders.
I am especially interested in obtaining information from individuals who,
before seeing an audiologist, strongly suspected they had a hearing loss, but
were told after testing that they had normal hearing. Or possibly you were
diagnosed with central auditory processing disorder (CAPD) with normal hearing.
My review of the molecular biology in some varieties of the connective tissue
disorders I'm targeting suggests that the auditory effects could be very
difficult to detect with routine audiological tests.
Please contact me via my private email address or phone if you are interested
in participating in this study.
Thanks, Marge Tamas (770)
439-6037 (please limit calls to 9 am - 9 pm Eastern US time) margetamas@mediaone.net”
PLEASE, take a few minutes to contact
Marge. The results of this study could
give answers some of YOUR questions about Stickler syndrome hearing loss.
Directory
At this moment, we are getting prices for the member
directory. If you forgot to get your
information to Beth, send it TODAY. She
will be making pages to add to the directory.
She is Beth Johnston, 31 Timber Lane, Marstons Mills, MA 02536
or you can e-mail information to her: bethj@capecod.net
F. A. Q.
At the Seattle conference and on the list server, we
worked on a list of Frequently Asked Questions and their answers. That article will soon be posted to the
website. So, make sure you watch for
it!!
FROM a MEMBER
“The other day I happened across a show called "The
Operation" on The Learning Channel. They were showing different surgeries
and how technology has improved them. They showed a child having his first
cleft palate correction surgery. I had never seen a cleft palate - it was very
educational and interesting, and really expanded my understanding. They showed
after the surgery, the child having speech therapy and how he was
adapting. If you are interested, you
might look in your TV Guide, or try looking on the TLC web page about that
episode.”
ANOTHER WORD from MARGE
Apparently,
getting hold of the medical reports is a sticking point for a lot of people. If
you are enrolled in the NIH connective tissue study ("Variability of
Connective Tissue Disorders" with Dr. Francomano), you have already had
the tests that I need the data from.
Look for the reports that say "AUD" and "ENT". Those
two reports have
all the hard data I need for this phase of the research.
Appreciated
Letters
“I just want you
to know that I greatly appreciate everything that you do....I felt totally
alone with my son’s Stickler syndrome,
until I found your group.....The knowledge and the help you have given me has
made me feel like me and my family CAN and WILL deal with this and be
better people from it......THANK YOU for all that everyone does. My son and
family GREATLY appreciate it.”
“Thank you so
much for the information! I really appreciate it. I went to Stickler.org and I
am getting a lot of information. I understand the condition better now. Thank
you so much!”
Childhood is an interesting phenomena
for parents. The days last forever, and the years fly by."
SEATTLE,
2000
The
Stickler syndrome conference in July had a NEW approach. We used the THEME : Living with Stickler syndrome. This meant we had MUCH less medical
information and much more “every day living” ideas. Please remember that our
new format for the conference included Dr Stickler as our only doctor. So,
every thing else is layperson information.
DR STICKLER: He said that Martin Snead,
in England, advocates prophylactic (preventative) sclera buckling. The quote
from Mr Snead is : "Our policy is to offer all patients prophylactic 360
degree retinal cryotherapy and this is mainly type 1 Stickler syndrome. The
surgical objective is not to prevent (giant) retinal tear formation (because we
know it doesn't), but to stop this progressing to detach the posterior retina.
This is why the treatment must be contiguous without any gaps. All patients
seem to be at high risk irrespective of age, degree of myopia and even if the
retina looks "normal" which it usually does. In our series of over
100 patients, although many had lattice retinopathy, the commonest fundal
finding was normality. This is why vitreous examination is so crucial to not
missing the diagnosis rather than looking for obvious retinal
"disease". Dr Stickler says "When you distribute it, you may
want to mention that this was a statement of his present opinion which he had
sent to me."
(Notes continued
on pages 6-8)
Mr Snead also
told Dr Stickler that 60% of his patients who did not have the buckle done had
a retina detach and only 8% did with the buckle.
Dr Stickler said
that he believes that ear tubes are "not essential", in fact are
questionable in preventing hearing loss. He said if a person is in doubt about
ANY surgery, that surgery should at least be postponed until the doubts are
removed.
He said that the
QUEX showed that speech problems improved with age, and asked if that was true
of us who were in attendance. Other info from the QUEX that he highlighted was:
Smooth skin, long fingers and toes were common AND height is within NORMAL
ranges. Hair loss is not related to Stickler syndrome. The "crackling
joints" were a new find. Lots of us use a hot tub, to help aches. We need
to be careful with NSAIDs, and only use coated products. 65% of us stated a
balance problem. 70% over 60 have had at least one joint replacement.
He said there
are over 5000 known syndromes. So, it would impossible for a doctor to know all
of them. We need to find a medical team to care for each of us. He also
encouraged us to deal with denial.
NIH INFO: The responsibilities that
had belonged to Doug Wilkin have been transferred to Jennifer Johnston. No
replacement has been announced for Howard Levy yet. From the study, they have
found that 75% of us have the COL2A1 mutation. There is a new DHPLC machine
that is improving the search for a person's specific mutation. Doug looked at
10 exons (common spots to find a Stickler mutation) and the machine is
examining 51 exons. Joan also said the study criteria has been changed from
yearly exams to every two years and that only affected relatives of those
already enrolled are being brought to Bethesda, for a while. She also said
that, due to our results, they are starting a new Pain Management study.
The study is of
three connective tissue disorders: Ehlers-Danlos, Marfan, and Stickler. The
purpose is to 1) Look at progressions, 2) Find genetic causes, 3) Relate
mutation to symptoms, and 4) Establish criteria to diagnose the syndrome. The
progress so far has been 1) to discontinue the CT scans of the temporal bones,
due to them all being normal; 2) On a scale of 1-10, pain seems to be 8-9 and
caused a new questionnaire to be created and the new Pain Management
strategies; 3) New OB/GYN concerns have been created, 4) They are looking at
new osteoporosis findings and doing a baseline DEXA (bone density scan) on all
participants over 10 years old; and 5) they are confirming the orthopedic
findings of past studies. Joan said that 86% of us adults have "back pain.
and that 100% of persons over 50 report hip pain.
JAMES MAY,
from Fathers Network: Said the trick is the "Find the Balance" in a family with a
disability, and to let good times balance the bad. Definition of a family:
"A group of people who make an irrational commitment to each other's well
being to the point of making each other crazy" - Urie Brunfnebrenner. He
said that we need to see our family as a mobile and keep it in balance or it
will collapse, just like a mobile. It can be readjusted but will never go back
to the previous shape. He showed a cartoon of a street sweeper with a man
running in front of it and said that is how a lot of us feel.
A family with a
disability does not have to be a dysfunctional family. Males tend to want to
"FIX" a situation, rather than feel guilty about it. Families
experience guilt, anger, disappointment, helplessness, and resentment. We need
to talk about the problem, not just the impact it is making on relationships.
Families organize to handle problems, but find it difficult to change. A
chronic illness (ongoing health problem) may become a family member, and act as
a "two year old terrorist",
"An
ENERGIZED FAMILY talks a lot, establishes community ties (as in coming to a
conference), encourages the autonomy of family members, is capable of creative
problem solving, utilizing family's skills, and has the ability to adjust to
changes within the family" PRATT
He asked
"What are YOU teaching your child about PERSONAL independence?"
He said that
knowledge is power, that we need to educate our doctors, do not make enemies,
and become our own expert. Pain deadens the soul. There is power in perception
and in attitude. We should surround ourselves with SUPPORT. Do not try to
"go it alone." "What we give others is what we need
ourselves." Gerald Jampolsky "MAKE PEACE WITH IMPERFECTIONS"
Richard Carlson
LEIGH ELSTON,
genetic counselor student: passed out a chart of her findings about Stickler syndrome. Explained
that "stop Codon" (a term used as part of the definition of Stickler
syndrome) is like someone fixing a recipe and does not put in one ingredient.
Everyone has 5 -6 genetic disorders. If the first person is diagnosed, the rest
of a family is easier to diagnose. The average cost for genetic testing is
$2400.
BILL Smedley: Recipient of Guide Dog: -
Said he is "legally blind, which makes us illegally sighted". He
spent 28 days in training with each dog, and had to be able to walk 8 blocks
twice a day. To attend the school, a person has to be doctor certified. There
are adaptive harnesses for persons with arthritis and the company adapts for
other diablilities, by need. A person can do a trial meeting, before committing
to the school. Bill said he gives about 45 minutes care a day for a 10 year
friendship. The dogs are trained to see traffic, stop at curbs and stairs, and
to avoid walking hazards. A cane is still needed to avoid overhangs, etc. Bill
is soon to retire his second dog, due to the dog slowing down.
His wife was
asked if she noticed a great change in Bill's freedom, after getting a Guide
Dog. She said that he was very adventuresome before the dog and just safer
after getting the dog.
JODIE RYAN-
Community Services for the Blind: spoke about adaptive aids. She demonstrated a closed
circuit TV with screen enlarger up to 60x. It comes in a hand held version, and
costs about $3500. She finds state funding, employer funding, and church and
local agencies may help.
A Q&A format
explanation of the employer and employee responsibilities pertaining to the ADA
laws is at 1-800-669-3362
She suggested
calling your local phone company, with a doctor's letter, for free information
calls, if your eyesight will not let you read the phone book. Call your
Internet provider to set up a "profile", which can enlarge fonts and
get rid of some of the advertisements. She said that www.Aisquared.com has a free 30 software for screen
enlargements. Contact a Talking Books and Braille library for books to read. A
catalog of low vision aids can be ordered from 1-800-INTGRTY.
Jodie suggested
that we listen to ourselves, not necessarily "an authority" to
understand our body's needs.
She said that
persons with low vision should look into "independant driving"
schools. They can teach a person to use a monocular, rather than binoculars. He
advised "Lighthouse for the Blind," as a place for employment and
training for low vision persons. They can hire someone who can teach you,
according to your abilities. Find a person who will listen.
Jodie feels that
seeing a lot of specialists requires a generalist to oversee the patient. She
suggested looking up ERGONOMICS on the Internet to see if you need this type of
help.
Above all, she
says "EXERCISE YOUR ABILITIES"!!!
RANDY BISHOP - Parent of persons with
and himself a person with hearing loss from Stickler syndrome: Randy's kids
are now 17 &15. He told stories about April's superior accomplishments on
the soccer field and Mark loosing the use of 5 hearing aids in a weekend. Randy
believes that we have to become our own Stickler expert. He feels ADA started
some understanding of the limited. Before that, he was considered DISOBEDIENT
for not hearing what a teacher said. He said that hearing tests are very
accurate for those who can hear.
We should not
find "fault" with those who do not understand nor should we fault
ourselves. He tried being a "good guy" with the school system, for
his kids, and got nowhere. He tried being a "bad guy" and got
nowhere. He learned to be their advocate - to forgive others - and to keep a
positive attitude. Accept all offers from the system, and then select those you
need.
Having a hearing
loss is not all bad. Being able to read lips lets you tell what the coach and
umpire are saying to each other at a ball game and the "handicapped"
section tickets are cheaper.
Randy dreamed of
having a remote control for teachers, so he could rewind and rehear the
instructions at a higher volume. Our biggest barrier is denying a problem
exists. Disability gives a sixth sense and removes tunnel vision.
(The above are one person’s notes, and therefore
only what that person heard.)