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Is this a support group or more of an information sharing platform?

We are both a support group and an information sharing group. We share coping techniques, we sort out symptoms, offer constructive support when you need it, and we talk about our doctors. If you join our list server (SIP's email community message board), you are not allowed to name doctors while on the list server. If you want the names of doctors in your town, ask and that information can be sent privately. If you just want to chat with somebody about non-Stickler related subjects or issues, it's best to do that privately, too. We have a wonderful three-day Conference around the middle of July every year. This year's annual conference was held at the Mayo Clinic in Rochester, MN. The 2008 American SIP's Conference will be held at Providence, R.I.

 

What exactly is Stickler syndrome?

Research supports the fact that Stickler syndrome is more common than the Marfan syndrome. Stickler syndrome is not a rare condition, but classic symptoms are often unrecognized and the syndrome goes undiagnosed.

We want to provide up-to-date, first hand references, to facilitate the diagnosis of affected persons. These are aspects of Stickler syndrome to consider when the diagnosis is suspected:

1) Stickler is a progressive disorder. The symptoms identified in adults are often different from those that may be observed in children. Thus, the age of the patient should be considered, when evaluating possible affected systems, before ruling out a Stickler diagnosis.

2) Stickler has a wide range of expression, and incomplete penetratence. Symptoms can vary considerably from patient to patient, even between members of the same family. Patients may not exhibit manifestations in every possible system involved. In fact, one study based diagnosis "on manifestations from at least 2 of the 4 major clinical groups: 1) eye findings; 2) arthropathy; 3) orofacial abnormalities; and 4) deafness."

3) Stickler syndrome carries autosomal dominance inheritance. Although some cases are spontaneous (up to 20%), manifestations can easily be identified by reviewing the family medical history for evidence of connective tissue disorder.

What major systems are involved with Stickler syndrome:

Ocular: Chorioretinal and vitreous degeneration are the hallmark of the syndrome. The diagnosis of Stickler should be considered in cases of dominantly inherited myopia. The degree of myopia need not be high; It may be mild and /or stable.

Musculoskeletal: Several radiological and musculoskeletal manifestations have been described in medical / genetic reports. Commonly noted are ephiphyseal and spondyloepiphyseal dysplatia, and premature osteoarthritis.

Orafacial: Facial features may be flattened in infancy, but tend to improve with age. Findings may include flat nasal bridge, midface hypoplasia, Robin sequence, and various palate abnormalities.

Audio: High-tone sensorineural hearing loss can be progressive and needs to have base line test.  Genetic research has shown that mutation of the COL2A13 gene has caused Stickler in some families and COL11A1 has caused a Stickler variant. However, genetic heterogeneity must be considered before ruling out the diagnosis in those with positive finding in the systems above.

Early diagnosis of Stickler syndrome can prevent blindness and may give families the opportunity to make informed decision about child bearing. As early as 1972, Opitz et al called attention to Stickler syndrome "...because it appears that most cases are now incorrectly diagnosed and that most physicians seem to be unaware of the genetic implications of their patient's problem (or problems.)"

Dr Opitz stated Stickler syndrome "should be suspected in all cases of the Pierre-Robin syndrome, dominantly inherited myopia, with or without retinal detachment and deafness, dominantly inherited cleft palate and dominantly inherited mild spondyloepiphyseal dysplasia, with or without joint laxity and slender tubular bones."

How can I cope with Stickler syndrome?

 

 

There is no medical cure for Stickler Syndrome, but there's a lot you can do with early identification of these progressive problems. All of these suggestions apply to both children and adults. As the syndrome varies so, it's difficult to say that one might be hit by a problem before another. Hearing should be tested regularly to monitor the possibility of hearing loss. We can't stress enough the importance of checkups by an eye doctor familiar with Sticklers Syndrome. If any problems are suspected, action should be taken as quickly as possible. Don't wait for things to get worse. Treatment for cataracts or detached retinas is undoubtedly infinitely more effective with early identification. Joints should be well supported during any type of sport, but it's probably wiser to avoid contact sports all together if one has very loose joints.

 

 

How to donate tissue (while still alive) and/or organs and tissue (once deceased) for Stickler research.

 

 

If you have a planned surgery, and would like to work with your physician to donate tissue for the NIH to study (and are not already a participant in the Connective Tissue Study being done by Dr. Nazli McDonnell et al), then complete the study questionnaire on the NIH study website listed here http://www.grc.nia.nih.gov/studies/ctd.htm prior to your surgery, and contact the study to give informed consent.  Submission of this form needs to occur several weeks prior to your surgery date in order to arrange everything timely.

When you or a relative with Stickler syndrome want to bequest a wish to donate any/all organs and tissue (at the time of your death) to the National Institutes of Health/National Institute on Aging (NIH/NIA) to further research on Stickler syndrome, then all you need to do is advise a family member of your desire.  When the time comes for the donation to be made, the contact number to coordinate the donation is 1-410-350-3950 at the National Institute on Aging.

 

How do I contact SIP?

Stickler Involved People (SIP)

15 Angelina

Augusta, KS 67010

Ph. 316-259-5194

E-mail: sip@sticklers.org