We are back from the 2003 conference with mixed feelings. It is such a renewal to be with a supportive group, in person. But, it is also a stress to be “up and on” the whole time. The other mixed blessing is that this may have been the last conference with both of our teens attending. We so relish family time, whenever or wherever we have it. Please plan to join our Stickler family in Chicago, next July.
For our first several years, we listed names of person who contributed financially to Stickler Involved People. Then, for several years, we did not. A decision has been made to start listing contributors again. These persons contributed from the requested $10 to $1000 (which went to our conference fund) since January 1. A big THANK YOU to each donor and their families:
- Wayne and Kim Barwise
- Larry and Mimi Barden
- Eddie Carrington-who used his local United Way
- Pat Gourley and Melissa Ratchford
- Patricia Landis
- Tom and Lori Menken- matching corporate funds
- Arlene Russo-in honor of Pat Wilson
- Jamie Soulvie
- Ron and Jaki Thorne
Stickler Involved People is very proud to announce this year’s recipient of the Gunnar B Stickler Scholarship Fund.
That well deserving person is Ashley Trippe, from Tampa. We were very excited to have 5 applications this year and know this will grow.
Dr and Mrs Stickler have generously 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. The committee has completed the hurtles for the IRS and has a set of criteria established. Applications were available after January 1, 2003. This fund is now available for your tax deductible contributions!! Please consider making a donation in honor of parents, your child, or your spouse.
Dr. Karin Vargervik- At the craniofacial clinic, they have neurosurgeons, ENT, ophthalmologists, audiologists, orthodontists, and social services.
In a newborn, they see PRS (Pierre Robin Syndrome) babies with small jaws, an open cleft (often very wide), with breathing and feeding difficulties. She said that 30-40% of PRS babies have Stickler syndrome. Newborn solutions may be positioning, nasopharyngeal tube, endotracheal tube, a gossoplexy (which is tying the tongue to the lower lip, for up to a year or more, until repair surgery), Mandibular distraction ( a new procedure, without documented results, but is a surgery that makes the jaw longer. However, it may affect tooth buds), Tracheotomy (which always works).
In some cases, the airway obstructions may not improve even with mandibular growth and may need long term trach. Almost all Stickler syndrome patients need orthodontic treatments. Surgeons are reluctant to take tonsils or adenoids in persons with PRS. Normal lower jaws grow from 9-11 years old. It is most common that the jaw will grow enough without surgery. Surgery for airway problems, which is not considered cosmetic surgery, is indicated in 25% of cases they see. She talked about geneoplasty, which is used to improve profiles, and is not just cosmetic.
Dr. Stickler- He explained the history of his discovering Stickler syndrome. He was at a Crippled Children’s Clinic in 1960. The original family presented a 6 year old who had trouble walking and the mother was blind. A biochemist, ophthalmologists and a radiologist saw 9 family members. They did a lot of metabolic and biochemistry studies, to rule out other causes. Dr Charles Mayo has seen a great uncle of the mother for eye problems, in 1897 and the grandmother in 1907. In 1965, Dr Stickler named the problem for the progressive eye and joint problems and Dr David Smith later named it Stickler syndrome.
Dr Stickler also talked about hydrotherapy. It is not just swimming, but actual exercise in water. He suggest a range of motion program in chest high water, done for 40 minutes three times a week. He referred us to the Cochrane Library, which has all controlled studies libraried. It is http://www.cochrane.de/cochrane/revabstr/mainindex.htm
He said that all sleep apnea should be tested by an actual sleep study. The cause of the sleep apnea needs to be found, before assigning a treatment. Durable and assertive results are made from study.
Stickler syndrome is a degenerative joint disease, not arthritis. There is no inflammation in synovial tissues. X-rays will not show joint problems. The only “proof” may be the patient telling the doctor. Aging is hard work. Skeletons still do not hold up well; Hearts have been made stronger.
In closing, Dr Stickler said we should never ask a doctor “what is the future?” They are not fortune tellers.
Dr Daniel Brinton- Stickler syndrome is characterized by high myopia, adherent vitreous (separated, but not clean), tract ional vitreous strands (which cam pull on the retina), periviscualar degeneration (pressure on blood vessels), cataracts (surgery is high frequency, and adds risk. They are usually bilateral – other conditions are unilateral).
He said that, in Wagoner’s syndrome, eye problems look the same, but it does not cause retinal detachments.
The larger the tear, the lower the prognosis. Also the more tears, the lower the prognosis for success. Stickler syndrome usually causes posterior tears (in the back of the eye) The tears have childhood onset and therefore are harder to detect. Persons with Stickler syndrome have the highest risk of retinal detachment of any hereditary condition. It is the most common inherited cause of retinal detachment in children.
Ocular findings: Myopia in 75-90%; Retina detachment in 50-65%; premature cataracts 78% (typically, cataracts are common after age 60); Glaucoma 18%;
He prefers laser to cry therapy, but said cryo after a detachment. He presented statistics that prophylaxis is successful in 9 of 10 surgeries, while repairs are successful 2 of 11 times. -(Libia, 1996). Retina detachment symptoms may include flashes of light off to the side, new floaters (best seen against a blue sky), shadows (like curtains) especially peripheral shadows. Test for detachments once a week by wiggling fingers around the edges of vision.
In answer to audience questions: Patients should be seen every 3-6 months, until teen years are over. Do not make a child a cripple, just protect their vision. Wear glasses or eye protection. Trauma to the eye ball, head trauma, high dive, racket ball, cliff diving are all bad ideas. Roller coasters are OK. It may be that retinal detachments were going to happen anyway and a trauma just accelerated it. There is no way to know. Buckling may relieve pressure in the eye. A lot of philosophy is involved, not “rules”. Doctors shoot from the hip and parent philosophy counts. Polycarbonic glasses should always be used, they are absolutely shatterproof and are the strongest. It is much better to build a fence at the top of a hill, than have an ambulance at the bottom.
In conclusion, Dr Brinton said that we need:
- Early diagnosis (tell child symptoms)
- Educate all
- Frequent eye exams – at least every 6 months
- Prophylactic treatments
- Early surgery for retinal detachments
- Proper interventions- more aggressive treatment for Stickler patients
- Avoidance of ocular trauma
Anne Slavotinek- Stickler syndrome affects all ethnicities, males and females equally, and 1 in 7500 persons. It involves collagen, and affects connective tissue. Hearing loss can be conductive and often involves excessive ear infections. Type I Sticklers involves more membranes appearance in the eyes and mild hearing loss. Type II has more severe hearing loss and is sometimes mistaken as Marshal’s syndrome. Type III has no eye involvement and is called OSMED, mistaken for Weissenbach-Zwemiller.
Genes come in pairs, with one normal and one mutated. WE only pass on one gene, the normal gene 50% of the time and the Stickler gene 50% of the time. IF a child is affected, parents should be evaluated. If a child is affected, brothers and sisters should be evaluated. When genes are copied, mistakes can happen. Those mistakes can be “caused” in some cases, but not in Stickler syndrome. COL2A1 is the affected gene in 75% of Stickler cases. It is a premature stop codon, which means that not enough protein is developed.
Dr Mohammmad Diab- Type II Collagen mutations cause (from mildest to most severe) premature osteo-arthritis, Stickler syndrome, Spondylo-epiphysis dysphasia, Kneist dysphasia, and schondrogenesis II. 80% of persons with Stickler syndrome are affected musculoskeletally. In persons with Stickler syndrome, scoliosis occurs 33%, end-plate irregularity 75%, Schmorf nodes 66%, platyspondyly 40%, Schellermann kyphosis 40%, and back pain 80%. Operations for deformity is needed less that 5% of persons. (Letts M. Spine, 24: 1260-4, 1999; Rose PS. Spine, 26: 403-9, 2001)
Asha Bajaj- Look at Physical Therapy as management of a problem, not as a cure. Pain is a feedback situation, letting you know there is a problem. PT addresses low level pain transmitters, rather than the high pain gates (like a hand on a hot stove). If we close the low gate slowly, pain is not noticed as much. Ultrasound, meditation, water therapy all alter the pain loop. A range-of-motion set of exercises is critical every day. Circle ankles, curl toes, bend knees, roll knees in and out, – move every joint its full range.. Also, find a neutral position for each muscle group, at least 3 times a day. Drive with knees lower than hips. Isometrics (equal opposing motions) are a good approach., as are knee pillows, neck pillows, and a roll of towel around the waist.
Think of your energy level as a bank account. You can only take so much out, without an overdraft. Make three lists of activities each day. 1. Absolute must-do then rest. 2. Like to do, then rest. 3. Want to do. Pace yourself. Go for group sports, not competitive. Use a stationary bike, especially underwater.
Dr Ruth Liberfarb- The NIH study saw 200 patients, with 33 families Dr Liberfarb had seen in Boston, 31 SIP families and 1 from a geneticist referral. All persons had a medical record and blood taken. Some were brought to the NIH for comprehensive exams, along with unaffected relatives as a study comparison.. 47 patients, in 10 families, were found to have the COL2A1 mutation.
Dr Liberfarb does not encourage x-ray to be used for diagnosis. She feels there is an increased risk of retinal detachments, until adulthood. Then a patient can be seen opthalmologically only yearly.
The NIH “Diagnostic criteria” paper is still in the works.
Debbie Gish- A social worker can support and provide tools for dealing with differences. We have experiential expertise. We are teachers about differences and teachers about Stickler syndrome. We are educators – some are like inheriting a family business (we don’t like it, don’t want it, but are there). We can be willing teachers. IF you see another person’s heart, you do not notice their differences.
She talked about Civil Inattention. We all need to be noticed, but not differentially.
We all naturally give each other a correct lack of attention. The obviously disabled are denied that. They get curiosity questions, rude questions and overly personal questions. We have to develop greater patience and understanding of those reacting to our differences. The secondary reaction, on both parts, is the most important interaction. Smile, give simple replies to questions.
With visible differences, the condition is immediately obvious. With non-visible differences, a decision must be made to tell or not, face rejection or gossip. We want support, but not judgment. Your honesty can teach a better reaction for another person’s next encounter.
Tools: Work toward ease of relationships. Know that Stickler syndrome is part of your life, not all of your life. Rehearse responses and anticipate questions. Talk within family, but do not become “Joe Stickler-syndrome Jones”. Realize that everyone is different. Pick your battles; play up your assets. Get help (therapy) for fears. Include children in decision making. Learn firmness and self-advocacy, not anger and rage.
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
This newsletter’s editor is in need of input from you. We would still like to get a different name for the newsletter and need your suggestions. If you would like to submit a suggestion for an article, send it. If you want to submit your story for “Introducing a SIP”, send it (preferred by email). If you have questions about Stickler syndrome, we will try to get an answer. We need feedback to improve this newsletter!
Conference 2004 Chicago area, JULY 10-12
THOUGHTS FROM EXPERIENCE
“We found the best place to start is a university affiliated teaching hospital; one that is associated with a medical school. In one central place are located all the medical disciplines. Even if you don’t know exactly what is wrong, you can go to all the different clinics until you find out what is wrong. Then you know where you have to go and what you need to do to cope with your particular Stickler needs. True, most of your doctors may be residents, but any possible surgery will probably be done by faculty.
These schools also give referrals to specialists already in practice in the area. You can also continue with residents as they enter private practice. We’ve done all these things. The problem here is that everything you need is no longer in one location. Maybe not even in the same city or state. A clinic like the Mayo Clinic is great for this, because all the specialists are in one location.
We pick up clues about doctors from the moment we phone them. If the receptionist is nice and treats you like a real person and not like a diagnosis and a billing number, that is a good start. If there is a disagree-ment, does staff ask you to come back and resolve it privately, or do they make you stand in the waiting area, deliberately trying to embarrass you in front of other patients?
I have 5 eye doctors: one each for my retina, glaucoma and cataracts, ocular plastic surgery, refractions for new glasses, and to
make and maintain artificial eyes. I have 5 orthopedic doctors,: one each for feet, hips, wrists, and two for hands. I do not have 10 different medical problems; I have one, Stickler syndrome. Despite the fact that it is supposed to be the most common connective tissue disorder, most of the doctors I encounter have not heard of Stickler syndrome. I am only a diagnosis to them — detached retina– with a lot more symptoms to deal with and a life to live outside that doctor’s examining room. But that is exactly what is needed: a medical approach whose focus is the fact that ones life becomes very complex when so many different things are wrong
My 24 year old son got Hepatitis C and developed a severe latex allergy as a direct result of Stickler syndrome related surgeries.
His life is enormously complex. He is having serious trouble finishing college and getting a job. He doesn’t get any recognition or credit for his medical history. Instead, he is being blamed for not making satisfactory progress toward his degree. These are the life issues secondary to the actual medical problems and the doctors we need which I believe are crucial to Stickler
patients. My son and I have always had the best medical care we could find. The disruptions and difficulties and expenses getting this care cost us constitute another problem worthy of consideration by itself.
I feel very strongly that Stickler syndrome suffers from a real identity crisis. It is simply not accepted as a syndrome, that is, as a
combination of interrelated symptoms with cumulative impact. We can’t get any one doctor to gather all these different symptoms under one umbrella.” -Andrew