September 2005
Coordinator Comment
I over heard a comment last week. The woman said, “I sure have enjoyed talking to you.” I thought, “yes, you were only talking TO him, not WITH him.” It reminded me of some newly diagnosed people, who only want to talk to me and others who want to talk with me. Be sure that most of your conversations are WITH someone, not at them. It spreads a lot more love!
New Film on Stickler Syndrome
Many scenes for the video were shot at our conference and our speakers were interviewed. If you ever wished you could just do something to help people know about Stickler syndrome, now is your chance. This film may be used to educate your physician. SIP is sponsoring Kim Barwise in her project to produce a 30 minute documentary about Stickler syndrome. About ½ of the funding has been raised. So, your help is needed now. Donations can be made though SIP and are tax deductible. You can contact Kim at: k.barwise@rogers.com
Video donations: Dr James Boling, Dr Nazli McDonnell; Various fundraisers in Canada
Contributions Recognized
SIP received contributions from the following since the last newsletter:
Maria Alberto, Larry and Mimi Barden, Randy and Karen Bishop, Susie Caine, Pat Gourley and Melissa Ratchford, Tom Lacey in memory of his son.
Connective Tissue Study Purpose: 1)investigate arthritis and musculoskeletal issues in Stickler syndrome, and closely related disorders. 2) Discover gene locations not yet known.
The newly set protocol has slots for large family groups (about 10 persons) willing to give blood and a medical history, (by phone).
If your family is interested in participating in the study or would like more information, please contact: Nazli McDonnell MD, PhD at: McDonnellNa@grc.nia.nih.gov or Delva Houston at 410-558-8494. Please when you call or email, provide an address, phone number and cell phone number so they can send information about the study and/or call about scheduling.
Conference 2006
At our Annual Meeting, it was voted to meet in Nashville, TN for our 10th annual conference, July 7-9, 2006. Make your vacation plans to join us there!!!!
Contact SIP if you are interested in handling a fund raiser for the Stickler syndrome video. We have several suggestions to get you started and Kim and Pat will help ( from a distance).
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 from www.targum.com
Stickler-TheElusive 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
Helen Keller Quotations
Famous for her many achieve-ments in life despite being both deaf and blind, Helen Keller has been a role model of achievement in the face of adversity. She said
- When indeed shall we learn that we are all related one to the other, that we are all members of one body?
- Keep your face to the sunshine and you cannot see the shadow.
- I long to accomplish a great and noble task, but it is my chief duty to accomplish small tasks as if they were great and noble.
- I seldom think of my limitations, and they never make me sad. Perhaps there is just a touch of yearning at times; but it is vague, like a breeze among flowers.
- What we have once enjoyed we can never lose. All that we love deeply becomes a part of us.
- When we do the best that we can, we never know what miracle is wrought in our life, or in the life of another.
Conference 2005
Dr James Boling-Mayo Clinic & Nemors Children‘s Clinic, Jacksonville: “WHY do Stickler syndrome patients get Retinal Detachments?”
- High Myopia
- Cataracts
- Vitreous liquefaction
- Choriaretinal pigmentary changes
- Complicated retinal detachments
- He feels that high myopia is a disease in itself. The stickler eye is larger, and longer, so “out of focus” is a given. The eyeball is bigger, so the retina is already stretched.
- A cataract is a clouding of the lens. They come earlier in life for a person with Stickler syndrome. The lens is the highest concentration of protein in the body . The collagen concentration in Stickler syndrome creates cataracts. Persons with cataracts have an increased potential of retinal detachments. However, new procedures do decrease detachment chances.
- Vitreous is a gel- the consistency of egg whites. It had fibers and is 99% water
- He showed a photo of lattice degeneration Tears occur at the pigment change lines. The eye must be dilated to see pigment color changes
- An “auto accident” can range from a fender bender to a total wreck. Likewise, “retina detachment” can mean little to a disaster. The retina is not glued, and is constantly pumping fluid. A hole lets more fluid into the vitreous than comes out. A sclera buckle is like a “thumb in the dike”.
A hit in the eye can cause detachment. One loses vision opposite to a detachment, left vs. right, top vs. bottom. The answer to “should I have me cataract removed” is that same as “Should I replace my tires now.” It depends on the wear. If the ophthalmologist see future problems, take care of them. All people have may have small holes in the retina, and an ophthalmologist has to really search all sections of the eye. Giant Retinal Tears are harder to fix when folded.
PREVENTIONS: Avoid rubbing the eyes. It doubles or triples the eye pressure. Protect the eyes from contact sports. Keep eye pressures low. Know symptoms of retinal detachments. Find an excellent cataract surgeon (only if necessary). Have regular eye exams, every year at least.
Question answer: A child’s brain is more plastic and will adapt to monocular vision without telling a parent. Head impact should be well followed. Use eye protections. Roller coasters are OK, but diving is not. Always weigh risk vs. benefits. Do not abuse contacts (like sleeping in them or reusing dirty lens). Technology is improving and improving. Vitreous, like the appendix, is not necessary. Laser treatment is better than vitectomy.
Lasix is a bad choice for a person with Stickler syndrome, because 10 flap in cornea may unstuck or get infection; 2) it complicates cataract surgery 3) can increase interocular pressures.
LORI VICKERY: Person with Stickler syndrome have more palate problems, more total cleft, submuceous cleft, just muscular weakness. Say the word “church” to feel the muscles work. Dialect affects nasal sounds, and play a huge role in “acceptable” sounds.
Laws are improving to allowing a child to be seen for therapeutic services. Case loads are high, so it takes time to get services. “no child left behind” meant a step backwards, focuses on mainstreaming and it treats academics not limitations. It helps if you have a syndrome, but the new law does not allow for disability.
Lots of persons with syndromes only have a 2 finger space from the bottom of the ear to the jaw, those without syndromes have a 3 finger space.
Hearing loss is checked bimonthly, by audiogram, in Georgia.
Aids go with inner ear hearing losses. They are not for conductive hearing loss, can even make it worse. Use an FM system for conductive hearing loss, helps with attention. What is a “delay” vs. a “disorder” is a judgment call. Parents need to be persistent to get therapy. Use the word “disorder”.
A good at-home therapy, for speech problems, is sucking thick through a straw. Name actions to the child, with past tense also. Use lip reading and stay in front of a persons with hearing loss.
CHARLES WILLIAMS: Stickler syndrome is a collagen disorder, in the extra cellular matrix. Collagen is the glue to hold cells together. He showed “normal” and abnormal collagen. DNA has a genetic code GAGTATCCT. There 16 types of collagen and 28 genes make different types of collagen, which make bones, eyes, etc. COL2A1 is the most common Stickler syndrome mutation, and had ocular findings. With any autosomal dominant mutation, there is a 50% chance of passing on the mutation. From the NIA study, he has a theory that males may be more symptomatic. 15 years ago, only clinical diagnosis was available and now genetic confirmation is possible. Genotype is genetic typing and Phenotype is physical typing. The abnormality does not let the glue in the gene work. Each genetic test costs about $1500 and there are 3 possible tests at the present.
NAZLI MCDONNELL: “Toward a Diagnostic Criteria for Stickler syndrome.” Stickler syndrome is one of the most common autosomonal dominant CTD (connective tissue disorder). 90 patients form 38 families have completed surveys. 1/4 of affected persons do not have one of the three KNOWN gene mutations. Type 2 and Type 3 overlap into gray areas. Type 2 is defined by “beaded vitreous”, but children and persons who have had eye surgery will show different. Type 3 shows no eye findings. A negative genetic test does NOT rule out the diagnosis.
The diagnostic criteria was developed from persons with KNOWN mutations. It was 100% accurate for persons with COL2A1, 98% accurate on persons clinically affected, and 86% accurate on unaffected persons. The diagnostic criteria gives points for symptoms and must contain a symptom, from at least 2 areas (eyes, joints, craniofacial, hearing) and gives a point for a diagnosed parent.
10.1 per 100,000 person/years have retinal detachments. 2% of adolescents have scoliosis.
Marshall syndrome: (often confused with Stickler syndrome) Short stature more pronounced, facial features do not get milder with age, cataracts are more common, hearing loss is 100% medium to severe.
NAZLI MCDONNELL: Orthopedic presentation: 6 of 38 mature patients had a history of femoral head failure. The femoral head can actually disappear. Hip pain can transfer to the knee. Legg-Perthes is found in children with Stickler syndrome. Protrusio Acetabuli- bulge of acetabulun in pelvic cavity; causes pain and limitation of motion. This happened in 10% of 51 persons studied. Slipped Capital Femoral Epiphysis- shift of femur- early diagnosis is important because later surgery may not be as successful. With no cartilage, bone rubs against bone. 2 persons studied had vargus (hip angle) and 10 were valga. Either may need bracing or surgery.
Of 102 hips studied, 19 hips, in 13 patients, had grade 2, or greater, arthritis. Narrowed joint space is painful and eventually will need hip replacement. Most orthopedists will not do x-rays of the hips. So, having the Stickler syndrome diagnosis is critical.
Spine in Stickler syndrome: 34% had scoliosis, 85% of persons reported chronic back pain. Only 1 of 53 had no spinal abnormality. Though 1/3 had scoliosis, only 1 person had to have surgery. So, scoliosis was self-limiting. Most spinal curves are right oriented, but 4 of 18, in the study were left oriented. Joint hyper mobility in Stickler syndrome probably accelerates the process of back pain.
MEDICAL TRAVEL HELP
If you, or a member of your family, has a need for long-distance medical air transportation, contact NPATH: www.PatientTravel.org or call 1-800-296-1217 or mercy medical@erols.com. They provide 1)airline ticket assistance, 2) private aviation resources, and 3) corporate aviation resources.
TEENS CONNECTING
Recently, a request was made and fulfilled, on our list server, for teens to have an “Email PENPAL” system. Right now, it is set up for kids with email. They can contact SIP@Sticklers.org. If there are requests for teen penpals by mail, send them to SIP, 15 Angelina, Augusta, KS 67010
Ignoring painful joints
May 12, 2003
If your knee hurts, you should check it out. But if you haven’t checked it out, you’re not alone.
This is the message from the US Centers for Disease Control and Prevention (CDC), which reports that approximately 20 percent of people with chronic joint symptoms such as stiffness, swelling and pain never seek medical help, despite the fact that effective treatments exist.
Because this ailment affects an estimated 47,5 million people, this means that nearly 10 million adults are not getting the treatment they could.
People tend to minimise chronic joint symptoms
“People tend to minimise chronic joint symptoms. They think it’s part of getting older, and are missing out on opportunities for treatment,” says Dr Chad Helmick, a medical epidemiologist for the CDC and co-author of the report.
This is despite the fact that two million of those with joint symptoms who haven’t seen a doctor reported curtailing their activities because of their condition.
People with chronic joint symptoms may or may not have arthritis, Helmick says, explaining that only a doctor can make a diagnosis of arthritis. If you’re suffering from joint pain, he says, “see a health professional, get a diagnosis, get educated and take care of the pain.” (HealthScout News)