September 2001
Coordinator Comment
I had a bit of a loss in May. Those of you who get the newsletter by email could not even notice, but we lost a font. When SIP was created, we chose a style named BAZOOKA, because of the “forward looking” print. However, due to progress and a new computer, we do not have that font now. I had to choose something else to represent SIP, so the June newsletter could go out. I chose IMPACT, and here is hoping that SIP has made an impact on your life.
SAVE SIP
If you are no longer interested in receiving this newsletter, please contact us by email or phone. SIP was spending over $200 a quarter for printing and postage. We estimate that over 1/2 of you have email and can receive this newsletter on line. We need your assistance with this simple task. If you have sent your email address, a BIG THANKS. If not, and you have an email address, PLEASE send it TODAY to: sip@sticklers.org
Conference 2002
We will be moving the conference next year to Baltimore, mid June. Dr Francomono will be offering a clinic on the Friday before the conference, for those who are not in the NIH study. A reminder to those who want to attend a conference, but lack funds for airfare: Contact the National Patient Travel Helpline for information about all forms of charitable, long-distance medical air transportation. They can also refer to the Angel Flight America Network. The number is 1-800-296-1217. Their website is www.patienttravel.org This group does provide free air travel to medical conferences. Check with them TODAY!
REMEMBER!!
Please remember to thank Barb and Ria for all the great work they did to make the 2001 conference a BIG success. Read the following carefully, for all the new information we received at this conference. Thanks again to Barb and Ria! SIP CONFERENCE Notes, 2001
Dr Stickler, first speaker: He talked a bit about support groups, saying that they intimidate some doctors, can give false information, and make it less necessary to have annual meetings. On RESEARCH, he said that one of the problems with finding a cure for Stickler syndrome is that it is a collagen disorder. (Collagen is like the mortar for a brick building. If that mortar goes bad, it cannot be replaced.) Research need more plans, more hypothesis and need a control group (that is not getting treated) to compare to the results of the treated group. But, no one wants to be on a control group. On NSAIDs, he said there is too much advertising and that we need to check for side effects very carefully. He announced the publication of our survey results. It is in Genetics In Medicine, May-June, 2001. He told us to never ask a doctor what the future will bring; they can only give percentages. He assured us that % on the survey were not high on chronic fatigue, depression or chronic headaches. We should not try to add symptoms to Stickler syndrome. He feels that “Don Quixote fighting windmills is like doctors fighting alternative medicine.” Some things may give a little relief, but does not cure the problem. We should be very careful with our bodies and our money. He told us about www.quackwatch.com He also said that doctoring should not be determined by courts. On prevention, he has done some personal inquiry. Pre-implantation genetics should be discussed with a geneticist. He has approached one doctor at Mayo Clinic willing to try this procedure, thornhillalan@mayo.com The ethics associated with this should be a personal decision.
Dr F Fassier, Orthopedist: He spoke first of a lawsuit of pediatricians vs. chiropractors. The outcome was that there is no proof that chiropractic helps and it is NOT a cure. He spoke of polymorphism, which means that Stickler syndrome is a different disease for each of us, due to each individual’s body being different. He said that Stickler syndrome affects the daily mobility of 75% of Stickler patients. We have pain, crepitation (noise in the joints) and locking of joints. He spoke of inflammatory vs. degenerative arthritis (where NSAIDs may not help). WE have joint pain in ankles, hips and knees, and morning stiffness. No blood test will show this arthritis, only x-ray. X-rays will also show soft tissue swelling and joint space narrowing. Cartilage is invisible on x-ray. It shows up as shadow, as space only. The best view is from an MRI (gadolinium contrast). He talked about the survey results that show 25% of us have lower limb anomalies and that they are self-aggravating. He spoke of no surgical treatments, such as medications, braces, and weight control. Before he does surgery, there has to be functional limitations. His goal, in surgery, is to restore the proper axis. He checks hip alignment before doing knee surgery. Timing is everything, he hesitates on those too young or too old. He showed slides of procedures to eliminate bow legs or knock knees. He starts with stapling the growth plates to make adjustments and can surgically remove a wedge of bone to adjust the alignment. He said that for scoliosis the treatment would be the same as for non-Stickler affected persons. He said that 50% of us have hyper mobile joints. An AFO (ankle/foot/ orthosis) is better than a shoe wedge. Neither is a permanent solution. He said that joints need mobility for life and suggested swimming and bicycling. His final thought is that “If a doctor cannot change natural history, do nothing.”
Dr Russell, Geneticist: She feels genetic studies should be a patient /parent decision. She was impressed with our survey, saying that all previous studies had been on a selected population and our survey was from so varied a population that it is very critical information. Genotype is the person’s genetic makeup and phenotype is how that affects the individual. A geneticist should look at other genetic issues (in addition to Stickler syndrome). 1/3 of us have other genetic issues. He or she should separate genetic/nongenetic issues. They should interpret and assess risks and discuss the nature of the condition(s). They should discuss options, including tests that may be available. A geneticist should write a summary letter (to the doctor and the patient) documenting the session and outlining a care plan. A genetic counselor should be NON DIRECTIVE, only informational. She gave reasons for not having genetic counseling: 1.Strong feelings; 2. Guilt feelings; 3.Difficult reproductive decisions; 4. Genetic implications for other family members; 5. Insurance and privacy issues; 6. Precise phenotypes CANNOT be predicted.
She showed the following chart:
Mutation 2A1 11A1 11A2
Myopia x x
Retinal detachment x
Membranal Vitreous x
Beaded Vitreous x
Early cataracts x x
Sensor neural hearing %loss x x x
Conductive hearing loss x x
Early joint pain x x x
(The mutation 11A2 is known as OSMED, but used to be referred to as Sticklers Type III) Dr Polomeno, Ophthalmologist: He said that Stickler syndrome affects the development of vitreous (the gel in the eye). It is 98% water and 2% collagen (type 2 & 11). 6-8% of all people have lattice degeneration and it is more common in persons with a high myopia. 40-50% of persons with Stickler syndrome have lattice degeneration. Tears (rips) in the retina allow vitreous to get behind it and lead to detachments. He believes in prophylactic treatment for a specific criteria, as follows: Extensive peripheal thinning (degeneration) Lattice degeneration, with 1of the following Family member with similar problem Individual has already had a detachment Person has a high myopia (-9diopeters or more) He uses 4 types of treatments: 1) sclera buckle; 2) biotherapy (burning); 3) cryotherapy (freezing); and 4) laser. He feels laser is becoming the most popular. He said to be “choosy” before LASIK surgery or keratotomy. Even if the myopia is removed, the eye is still myopic and needs following. These surgeries are new and no one knows the long term effects. He does not recommend contacts for monocular people. Glaucoma control is getting better all the time. The likelihood of retinal detachment after cataract surgery is 1% for persons not affected with Stickler syndrome and 4-5% for persons with Stickler syndrome.
Dr Shapiro, ENT: He said that 100% of his Stickler patients have a cleft. By age 2, 1 of 3 kids has had an ear infection and by age 6, 90%. Tubes are NOT a cure, but he will use them on “problem” ears. He uses a “waterproof” tube on 85-90% of his cases.
Irene Hoshko, Audiologist: The purpose of an audiologist is to help one hear others speak. Pierre Robin Sequence is the best Stickler syndrome diagnosis tool, along with one of the following: Arthropathy, retinal detachment, myopia, hypoplasia, hearing impairment, or muscular -skeletal findings.
Mike and Joan Yorston, AWISH: AWISH is part of a group called Patient Partners In Arthrits, a group started in Texas, and they are trained to show doctors how to diagnose arthritis. There are over 100 kinds of arthritis; the most common being Osteoarthritis (deteriation of cartilage), Rheumatoid (inflammation of joint linings), and Fibro (generalized aching and many other symptoms). There are no cures, but all can be treated for pain relief, to maintain joint mobility, to reduce stiffness, and to prevent deteriation. Some treatments are drugs, physical therapy, weight loss, and surgery. They like some of the new COX2 inhibitors (like Viox, Mobix, or Celebrex). A lot of research is being done to cure and to manage arthritis. Self help groups increase awareness. Mike feels that osteoarthritis will be cured within 5 years. We must keep moving, which keeps the joints lubricated. At least, we should all be doing a gentle range-of-motion set of exercises. All movements should be smooth, not jerky or forced. Walking is a great activity. We should distribute loads that we carry. We should use larger muscles first. We should use gadgets, and they showed grips for top and bottom of jars, “pick-up” tools, Larger pens and pencils, and key levers. When you have arthritis, you look at the world different.
Marthe Tremblay, Fibromyalgia & Relaxation techniques: Her criteria for fibromyalgia: 1)Pain for more than 3 months, 2)Pain in all four quadrants of the body, 3)11 of 18 tender points (shown on a diagram) have pain, 4)Pain defined by applying 8lbs of pressure. She said that 2% of the US adult population has fibromyalgia, 3.5% of women and .5% of men. The numbers are equal in Europe. She believes that it may be a “pain amplification disorder”, that the body does not send chemical messages to alleviate pain. There are a lot of chemical changes in someone with fibromyalgia, such as seriocomic deficiencies, tiptop decrease, and less growth hormones. There are also decreased delta waves in a brain scan. Some things that worsen fibromyalgia are as follows: Hormone balance, sympathetic nervous system, insufficient oxygen in certain parts of the brain, changes in barometric pressure, and mental state (being depressed because of the pain makes the pain worse). People with fibromyalgia have a normal immune system, but it takes longer to recover. Pacing (being busy for 1-2 hours and then a 20 minute break) and taking naps are helpful. Persons with fibromyalgia have to change ways of doing things. 60% still work fulltime, but 30% have had to change jobs. Exercise is good, working 5 minutes 2 times a day and increasing to 45 minutes 3 times a week. She suggested trying magnesium and malic acid; St. John’s Wort and/or Ginko Biloba. Marta, Joan and Mike can be reached at arthritiswestisland@awish.ca
Plan NOW to join us in Baltimore in June, 2002