definition and info
ways to cope
NEWS & UPDATES
I recently wrote, in my newspaper column, about “filling another’s bucket”, saying thank you and showing appreciation to those around you. I realized that I have failed, over the years to give a BIG THANKS to all those “behind the scenes” for SIP.
Helping found SIP were Carol, Corriene, Phyl, and Denine. Betsy believed enough to send money. Wendy gave us a “track to run on”, and strength through the years. Dave inspired the first conference, where we met Rick and Randy face to face to face. Jim and Sharon helped with the second conference and Nina inspired. Susie called about the NIH study and Dr Brown called, to be our advisor (in the same week). Dr Stickler has fulfilled many of my dreams! Karen has been our faithful secretary. Rick and Randy did the Denver conference, Bill and crew helped with Seattle, Suresh did San Jose, Barb and Joey made Montreal. Mamie donates every year and gave us a long list of family for the database. Joie will always be one of our heroes! Nancy is still mailing books out for FREE! Jack inspired us with his knowledge, Jaki with her humor. Mike volunteered his expertise, as has Tim. Alexis asked to be our translator. Claire’s crew has shared data and information, Nancy B gave us validation, as well as much support. Shannon and Mimi have MADE the list server, with much help. Jan became our first treasurer. Kim has worked diligently, for many years, on the videos. Nazli has attended and filled in for many conferences. Yona has given us chocolate and so much more. Jamie has been such an inspiration. Kristal has been so invaluable. Puran is so dear to our hearts. Glenda always has a good ear, and good ideas, as has Sharon T. Every one of you deserves a “pat” on the back and a big PAT hug!
Each year, the location of the next conference is voted on by partic-ipants of the annual meeting. The winner for 2007 is Rochester. We already have Martin Snead and Dr Pete Rose as speakers! Mayo Clinic has donated our meeting place. A great hotel has been reserved and We hope to see you there. Start saving now!
The SIP Board is making a special effort to help persons come to our annual conference. We may have funds for airfare next year, if the resources below do not work for you. We want to work with any and all to get you to the conference. Please contact Pat if you have thought “Gee, I would go, but for the cost.” PLAN NOW to join us in 2007
Conference Aid Help
1)Often a case worker can find funding for a parent to attend an educational conference locally. 2) See www.patienttravel.org for financial help with airfare for the conference, or call 1-800-296-1217. Please contact firstname.lastname@example.org for Conference aid. information.
Film Premier at Conference
We débuted the FIRST EVER Stickler syndrome video at the Omaha conference. Many scenes for the video were shot at Orlando conference last year and our speakers were interviewed. Kim and her crew used experts in Canada and England, also. Dr Stickler is in many of the clips.
Videos can now be ordered through SIP. Please send $10 (That is our cost.) for a DVD format of the first video, to SIP, 15 Angelina, Augusta KS 67010. (USA addresses only) Please consider adding a $10 donation toward the next video (for physicians).
If you ever wished you could just do something to help people know about Stickler syndrome, now is your chance. New films will only be produced as the money is available.
SIP is supporting Kim Barwise in her project to produce the documen-taries about Stickler syndrome. Donations can be made though SIP and are tax deductible. You can contact Kim at:email@example.com
Since the last newsletter:
Pat Gourley and Melissa Ratchford
Ira and Ivy Messer
Andrew and Marj Buchanan
Eugene and Marylu Helfer for Tim’s Birthday
Doug and Gloria Ramey
Mimi and Larry Barden
Dr. and Mrs. Stickler donated the start-up money for a fund to provide high school seniors, who have a diagnosis of Stickler syndrome, with a four year scholarship.
This year’s winner of the Gunnar B Stickler Scholarship is Eric P Joy, who will attend University of Maryland, College Park this autumn. Eric was on the honor roll all four years of high school, belonged to the National Honor Society, has an academic letter and volunteers with the Hollywood Volunteer Rescue Squad. We are excited to follow Eric through his college career!
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 toStickler Involved People. The cost includes exchange to British pounds, shipping and handling. Send requests to: Stickler Involved People, 15 Angelina, Augusta, KS 67010
The Miracle Next Door
Anyone who has ever been on our list server will remember Yona, our chocolate LOVING philosopher. She has been featured twice in our newsletter feature ”Meet a SIP”. She is now the author of a book chronicling the struggles with her son and Stickler syndrome. You can read about her new book and order it fromwww.targum.com
Ira and Ivy Messer
The board of Stickler Involved People is looking for people willing to do some small tasks. We need someone to:
1. Look into HOW people can donate their airfare miles, so we can use
them for conference attendees and set that system up.
2. Comply a list of all the CHILDREN'S" hospitals in the US, and a contact person's name. We would like to send brochures AND to know when they have conferences.
3. Be the volunteer who deals with Perkins Restaurants and their fund
raiser project. This would involve only receiving requests for gift
certificates and sending them out. This could be done through our
address, like the Wendy Hughes books we sell.
4. (not so little of a project, maybe) grant research, a person who hunts and searches for grants that SIP would qualify for. (The board has a lot of projects we would love to discuss with anyone who can help.)
These will be first come, first appointed projects. If you are
interested, please contact me atSIP@sticklers.org I will be glad to answer any questions. Some of these are VERY simple projects.
Also, if you have thought of little projects that SIP can be involved in
(things that further our goals of educating doctors and lay people),
please let me know and I will run them by the board. If you have any
special skill to share, let me know.
Anyone interested in making an appointment at the Stickler Syndrome Clinic at Mass. General Hospital should send their contact information (name, address, phone number, E-mail address and insurance information) to:
Ruth Liberfarb, MD, PhD
She will contact people in the order that she hears from them. She will start making appointments once she have become recognized as a provider by the insurance companies-hopefully by the end of September.
This is not a FREE clinic. Your insurance company will be billed. You
need to be specific about what specialists you want to have appointments
IF you remember Tyler
who took his first steps in Orlando, after surgery, hewas just awarded the Scouting "Award of Fortitude", from the Governor-General of Canada. - there is a short video of it at: www.putfile.com/barbshea
CONFERENCE 2007 NOTES
Dr Stickler: We all need to publicize, publicize, publicize. He is shocked that more people do not know about Stickler syndrome. He wonders what the cause of pain is, in Stickler syndrome. Is it caused by the orthopedic problems or the rheumotology problems? He would like to see a study of the biochemistry of Stickler syndrome
Dr Nazli McDonnell, NIH/NIA study: She feels that more general medical journals need to publish articles about Stickler syndrome, rather than just Genetics journals. When the study moved from NIH to NIA, it lost the ability for clinical workups of the eye.
1 in 10,000 individuals in North America has Stickler syndrome. It is autonomic (equally divided between sexes), dominant (if a person does not symptoms, they cannot pass it on) and affects connective tissue.
Stickler syndrome may affect eyes, hearing, joints. COL2A1, COL11A1 and COL11A2 are gene codes for collagen in the eyes, joints and bones. Mutations of the three known genes only account for 50% of cases, other mutations are unknown.
PRS-1990 study said 10% of persons with Pierre Robin Sequence have Stickler Syndrome. Dr Stickler says 40%.
From the NIH study: Spinal exams and hearing (cartledge and inner ear) still need assessed. Last year, 48 persons, who had not been genotyped but evaluated at the NIH, were studied. 16 were found with COL2A1 and three with COL11A1. All have or facial features, clefting is variable within a family. All have ocular involvement, in vitreous or retina. All have hearing loss and premature arthrosis. All these findings reaffirm the Diagnostic Criteria.
Short stature has been ruled out as a possible symptom. In the last year, CSPG2 has bee found as the possible mutation location for Wagner syndrome. There MAY be a way to treat Stickler syndrome, if a mechanism is found to increase the production of collagen.
Kimberly Joyce, Audiologist: There should be a “key” to explain symbols in an audiology diagram. Two types of tests are Air Conduction and Bone conduction. No child is too young to be tested. Clef ting affects cochlea hearing response. A tymponogram tests ear pressure, middle ear fluid, or perforation. In a VRA (Visual Reinforcement Audiometry), given from 6 month to 2 years old, the child is trained to turn to noise. There should be a 1-3-6 plan, if a test is failed, retest at 3 months. By 6 months of age, an intervention is needed, because speech is developed by 2 years old.
She gave a set of:
Questions for a hearing aid sales person:
How many brands and types do you sell?
What do you charge for the different types?
What is included?
Are there warranties?
Is there a payment plan?
Can I get my money back, if it does not work for my?
Should I get a digital aid?
What features should I look for?
What do I do if I have a problem?WWW.Hearing.org was mentioned as a reference
Dr Larry Jung, Rheumotologist: Said “we are more expert than a physician, about our bodies“. Most patients come to him for pain. Body mass Index is not a factor in pain, but is in osteoarthritis. Joint locking is due to loose bodies. The first Stickler syndrome study showed joint pain, hyper mobility, mild spondylepiphyseal dysphasia and premature osteoarthritis. Added were bony enlargement of large joints, genus valgum (knock knees) and joint locking.
Our hypermobility is due to collagen defect. This is seen in Ehlers-Danlos and Marfan syndromes, but is common I the general population. Young children have hyper mobility without pain, but 40% of adults with joint pain are hyper mobile. Aging changes connective tissues, becoming stiffer and less resistant.
He uses the Measure by Beighton for hyper mobility It requires a score of 4 of 9. 1. Put hands flat on floor 2. Bend elbows backward. 3. Bend knees backward. 4. Thumb touch to wrist. It is rare that people can do this after age 40.
Decreased use = decreased muscular strength. There is an implication
that, in addition to mechanical degeneration, there may be inherent
vertebrae problems. More use=more bone density=less osteoporosis.
Lauren Liberman, special guest from Campability: Referred us towww.APH.org, to DB LINK: 1-800-438-9376 and to www.campabilites.org
She is working with these groups and feel they have great resources for our kids and for helping financially to get member to our conferences (DB Link)
Wayne Stuberg, Physical Therapist: He works on cardiovascular and musculoskeletal health. Recommendswww.omim.org and that we check with a cardiologist, if we have Mitral Valve Prolapse, before starting any PT. Daily, we should Walk the dog, Take the stairs, take extra stairs, park the care further and walk. 3-5 time s week, for 25-20 minutes, we should take long walks, go biking, swim, do recreational sports. 2-3 time a week, we should do strengthening exercises. Muscle laxity, in an adult, increases the risk of ligament sprains. We should avoid contact sports and use arch and ankle supports.
Maldevelopment of the spine may need trunk support and PT. Nerve pain is a shooting pain, rather than an ache. Bone is pain sensitive and rubbing bone to bone is more pain sensitive.
For management of a Stickler body, he recommends:
1. Low impact aerobic exercises
2. Isometric exercise for strengthening (this contracts the muscles with our moving the joints)
3. Medications, as needed, over the counter and prescription
4. Glucosamine with condroiten
5. Heat for stiffness and ice for soreness
6. Mechanical aides, as necessary.
Dr. Dr Colleen Conoley, Neuropsychiatrist: For an assessment, she obtains history and current status, family and social information , medical and educational information, routines, and interventions tried. People are referred to her for
Difficulty in learning, attention, behavior, socializations or emotional control
A disease or inborn developmental problem that affects the brain in several ways
A brain injury from an accident, from birth, from trauma or from physical stress
She assesses 1) general intelligence, 2) Achievement skills, 3) Attention with executive functioning, 3) Learning and memory, 4) language skills, 5) sensory and sensory / motor skills, 6) motor skills, 7) behavioral and emotional functioning, and 8) social skills.
RESULTS may be:
Base line and progress monitoring
Parents are the expert on their child, and a good teacher is a secondary expert. It is very important to develop a method to measure success.
1. What are our goals?
2. How do we know if it is working?
3. What is a reasonable time?
4. What are the risks versus the rewards?
Goals need to be:
Meaning filled to parent and to child
Have a benefit to daily functioning
Relevant to daily functioning
Related to a time line (when should we try something else?)
She noted there is a difference between medical autism and educational autism.
She referred us towww.quackwatch.org
Dr Brad Shaffer, Geneticist: Any syndrome is a group if findings ,in more than one organ system, with a common cause. He related a connective tissue disorder to concrete work: rebar =connective tissue and concrete= skin and bones. The rebar quality affects the quality of the concrete.
Persons with Stickler syndrome have:
Marfanoid habitus: long flat-ended bones, long arms and legs, less trunk
Decreased mid-face projection
Depresses nasal bridge
Sensorial and/or conductive hearing loss
Unique pattern of acquired mixed hearing loss in in early adolescence
He had a group of 60 patients and 40% of them have Von Willebrandts Disease (a bleeding disorder) and suggests that we are tested before surgery. (This is not recognized as a symptom of stickler syndrome.)
He feels that we need a baseline ophthalmology exam and a baseline audiogram, a directive history to elicit complaints, checked for mitral valve prolapse, and regular ophthalmology exams. He says that we should not push through the pain,” but stop and find the cause.
He referred us towww.genetests.org
Dr Michael Miloro, Distraction Osteogenesis: He sees isolated case 75% of the time and persons with a syndrome 25%. Pierre Robin Syndrome (PRS) can be seen in vitro. Before birth, the tongue is in the nasal cavity. In the 7-8th week, it drops, but severe micronanthia (small jaw) may prevent this. A radiograph is used to decide surgery. A trach does not treat the problem. The Distraction Osteogenesis (surgically lengthening the lower jaw. The jaw is broken and a apparatus is inserted to keep the space open. In a week or two, for children, and a month or two, for adults, the bone will be filled in. The procedure takes 45 minutes. The device is removed in a month. The surgeon has to avoid nerves and tooth buds. There is little scarring, it allows the right vector (out rather than down), a Trach can be removed in in 2-3 days, and the apparatus can be removed without surgery.
Dr Michael Shapiro, Ophthalmologist:
The vitreous is made of collagen. Myopia changes the shape of the eye, pulls on the retina and it detaches. Treatments, as prevention, are laser, cryotherpay, or sclerael buckling. Perivascular lattice degeneration is a Stickler indicator, specific to Stickler syndrome. 5% of people have regular lattice degeneration.
His statistics are: A person with myopia of <3 is 10x greater risk of a retinal detachment than a person with normal sight. A person with a myopia of >3 is 20x the risk. A person with Stickler syndrome is 50X more apt to have a retinal detachment than a "high myopic."
He discussed Cyro versus
Laser. He uses both cyro and laser. He did say that Mr Snead only used
cyro for his Stickler patients.
Floaters indicate hemorrhage. A child’s brain compensates for loss of sight in one eye. We should see an ophthalmologist every 3 months, except in extenuating circumstances Then, every 6 months is often enough. He says the risk of detachment is more than 50% without prophylaxis and around 5% after prophylactic treatment. Children unable to have a perfect exam in the office should have an exam asleep unless there are unusual anesthesia risks.
He also said that in a normal population, 1 person in 10,000 has a retinal detachment. In a Stickler population, 1 person in 2 has a retinal detachment.
For available studies, he suggested that we do a “GOOGLE” search on “Gene Reviews” and then on “Stickler syndrome.”
Kristal Platt, Genetics Counselor: Led us through an exercise to figure out what “Stickler syndrome means to us.” Then, she shared the “Top Ten” list of things to remember about Sticker syndrome.
#10: In 2006, three genes are known to cause Stickler syndrome.
#9 All family members with Stickler syndrome have the same gene alteration
#8 Stickler syndrome is an autosomal dominant condition: Boys and girls are equally likely to have Stickler syndrome and 50% will pass the gene.
#7 People interpret risks differently
#6 Individuals within and outside of a family may have different symptoms (variable expressions)
#5 Separate coincidence from cause and effect.
#4 Stickler syndrome does not make you immune to other illnesses
#3 We all carry an estimated 20 to 100 non-working genes.
#2 We cannot choose the genes we receive from our parents, nor can we control the genes we give to our children
#1 Life is about attitude: “Life is not about how fast you can run or how high you can climb, but how well you can bounce.” - unknown
Christmas is Coming
Please remember to do all your on-line shopping by signing on towww.igive.com FIRST!
Even planning trips through igive.com can earn SIP up to 2% of your purchase. This costs you nothing and has earned SIP over $700, used for conference aide. If you have not tried it, go towww.igive.com , enroll, and give Stickler Involved People as your charity. SIP gets a % of all you spend and it costs you NOTHING!