Volume 3, Number 7 – September 1999
Coordinator Comment
It is a GOOD idea to have a conference every year to renew my dedication. It is an even better idea to have volunteers to do the planning and worrying. We ALL owe a debt of appreciation to two Stickler families for a GREAT TIME in DENVER!!!! Thanks to all the Bishops and to their volunteers. I truly know all the HARD work and efforts that it takes to run a great conference and 1999 was indeed great. Even if you did not get to go, say a special thanks to Rick, Sheri, Randy, Karen and families.
Plan NOW to join us in Seattle in 2000.
HELPFUL HINTS BOOK
About a year ago, we requested that you send Nancy Barry your ideas for making life with Stickler syndrome easier. Nancy has worked so hard to collect the ideas in this book. It is indexed and is a super support tool. If you want a copy, send $5 to SIP at her address: 20 Sunset Ct, Fowler, IL 62338. Or e-mail her at: nbarry@adams.net
GOOD NEWS
Robert Frack, of Philly, is our “Good Guy of the Month.” Not only did he get his Lion’s Club to donate to SIP, but he has a fund raiser going for us. If you are interested in purchasing his video on massage therapy, his profit will be donated to Stickler Involved People. We have a copy of the tape, if you need to preview it.
Orders can be sent to Robert at
Robert Frack
5801 Newtown Ave.
Philadelphia. Pa. 19120
E MAIL: frackie@cris.com
DIRECTORY
Beth Johnston has volunteered to make a Stickler Involved People directory, for SIP use only. We will be very selective in its distribution, but many people want to be “in touch” with those who understand. If you want to be listed, Fill out the enclosed form on Page 7. We can exclude last names or addresses, if you have email. The deadline for her to put this to print is Oct 15. Contact Beth TODAY!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!
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.
It 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
SSI UPDATE
For information and hints to apply for SSI, you can contact Marge Owen at mowen@zebra.net and / or call Suzy Caine at 703-549-1342. Both persons have successfully “gone through the system” and are willing to share. Ladies: Thanks for volunteering
From the List Server
“There is so much love found here,
within and without. Sharing is Caring!
Belonging heals my pain. Let us rise together
Find a way for love to stay.” Yona
What we have done
More geneticists, even one from CANADA, have been asking GOOD questions of Stickler Involved People.
We were contacted by the Lions Club lnternational for more information about Stickler syndrome.
HINTS from LIST SERVER
“I went to college on vocational rehabilitation scholarships. They paid full tuition but I had to pay for my books. This is offered by the state and you receive it based on the fact that your disabilities will keep you from working a manual labor job; hence the need for a college degree -so that you can work at a desk in an office.”
My 2-year-old is very hypotonic and is also very loose-jointed. We have been taking her to an orthopedic surgeon since birth because of her “clicky” hips and he has also found excessive pronation in her ankles. She wears AFO’s (little plastic supports) on her feet that help a lot. We paid for the first set ourselves and have since gotten in to the Shriner’s hospital system so they’re FREE.”
“Just picked up a book recommended by a psychiatrist treating me for chronic pain and depression called, “After the Diagnosis,” by JoAnn LeMaistre. The introduction really spoke to me – it was so right on with what I’m feeling. I’ve only read the intro and chapter one, but I’d like to recommend this
book to everyone.”
NIH STUDY UPDATE
The National Human Genome Research Institute (NHGRI) at NIH is conducting research on Connective Tissue Disorders. This research effort is led by Clair Francomano MD, as the principal investigator, collaborating with Doug
Wilkin Ph.D., and many others. It is an on going study during which we hope to evaluate participants yearly for an unspecified period of time.
Goals of the project are to 1) study Stickler Syndrome over time, so we will understand the progression of the disorder 2) identify the genes causing the disorder in each family 3) to develop diagnostic criteria by which other
physicians can be guided in making the diagnosis of Stickler Syndrome, 4) to compare a person’s gene alteration with his/her clinical findings and see if other people with the same gene change have the same clinical findings.
There are several components to this project, the largest of which is the extensive clinical evaluation done at the Clinical Center (CC) at NIH. Stickler Involved People and their at risk family members may undergo a 3-4 day out patient evaluation. This evaluation includes skeletal survey (full body xray), ECHO (ultrasound of the heart), Audiology, Blood for DNA, Evaluations by ENT, Rehabilitation Medicine, Speech, Eye, and Genetic specialists. More evaluations might be scheduled depending on our initial history and physical. NIH assumes the cost of flying study participants to and from NIH, along with lodging and a modest food allowance. Understandably, this is a chunk of time for participants to take out of their school & work schedules. Hence, everyone’s request to come in the summer. These requests will be honored to the extent of physician availability. Every effort is made to make the days at NIH as few as possible, but appointments are limited to the availability of the specialists.
Steps involved with participating in this study are:
- Initial inquiry, by potential participant.
- Clinical information obtained, usually by filling out Joie’s questionnaire.
- Consent for release of information forms are generated, mailed to applicant to sign and forward to the medical provider.
- Medical records dribble in.
- Clinical evaluation dates are scheduled after the pertinent medical records are ALL in.
- Travel agency at NIH is notified. (Agency will not call you until week before)
- Reservations for lodging is made.
- Specific appointments for the 3-4 days are made.
- Appointment schedule, consents, travel info. mailed to the family (will not come until week before eval dates).
- Clinic visit of 3-4 days.
The other way individuals / families can participate is through our off site mechanism. We collect medical records on affected individuals, and then send out a test kit for blood sample collection.
Individuals interested in participating in this study may contact Joie by e-mail (Joie_Davis@nih.gov).
or phone (301-435-2910) Email is preferable
Joie Davis CPNP, MSN
Phone: 301-435-2910
NIH/National Human Genome Research Institute BLDG. 10 RM 9C440 MSC 1806
10 Center Dr Bethesda, MD 20892-1806 FAX: 301-480-9026
EMAIL: Joie_Davis@nih.gov
REMEMBER
Plan now to join us in 2000 in WASHINGTON STATE in JULY SURVEY RESULTS
The Stickler Syndrome Support Group and Stickler Involved People completed a survey of members in November, 1998. At the Denver Conference, Dr. Stickler presented the results of this study. Barb Lockey sent the following report from her conference notes: “Dr. Stickler gave a brief result of the questionnaire. His full report will be sent out shortly. Worldwide there were well over 300 participants (141 from England, Australia, Europe & the remaining from US & Canada) He found that retinal detachments were more likely to occur under the age of 16, and that 90% of respondents have had detachments (though this should not be interpreted as 90% of Stickler patients will have detachments, as perhaps only those most severely affected answered the questionnaire). The myopia tended to be progressive. Approx. 13% have had glaucoma. He found really very few mitral valve prolapse cases, and no correlation at all between skin, respiratory (asthma, etc) & hernia problems associated with Sticklers. There was no more incidence of these occurring than in the general population. Hearing impairments generally tended to be conductive, resolving themselves as the patient aged. This is loss due to infections, fluid, otitis media, glue ear. Sensorineural loss occurred in approx. 30% of patients and tended not be progressive (though there are certainly differing opinions of this) Some type of hearing loss affected 70% of respondents. Facial symptoms, Cleft palate & Pierre Robin affected approx. 84% and 90% had joints affected. 29 persons were diagnosed at birth, with 91% being diagnosed by a professional. He found no correlation between having Pierre Robin and the severity of eye & joint manifestations. The age of the onset of joint pains tended to be quite young, though diagnoses of OA or specific joint disease was much later in life. About 1/3 of persons suffered locking of joints (crepidtion?). He stressed the need for further study into preventative surgery for the eyes. ”
Dr Stickler has now formulated our study into a 13 page detailed report and will be presenting it to the SSSG conference in Cambridge, England on November 27. As soon as possible, copies of his report will be mailed to each person on the Stickler Involved People database.
RESOURCES
All of the other Stickler groups in the world are referenced on http://stickler.org
The Stickler Syndrome Support Group (based in England) has opened their website. It is www.stickler.org
Another Email address we want you to be aware of is http://www.Igive.com This is an advertising website that has paid SIP $137 this year for your sign-ons. Try it and see.
Other’s SHARING
“This can be helpful information for anyone suffering a hearing loss or for anyone who lives with someone who is hearing impaired. My friend is deaf now but spent many years “in-between” the hearing world and the deaf world as a “hard of hearing” adult. About a year ago, she gave me permission to stop apologizing for my hearing loss. I had a horrible habit of saying “I’m sorry” every time I couldn’t understand someone: “I’m sorry, what did you say?” “I’m sorry, I didn’t hear you” “I’m sorry, could you repeat
that?” Ugh! She told me it’s not my fault I can’t hear – this is just a part of who I am and I shouldn’t be apologizing for it. Her advice was so gentle yet empowering.”
“Our dental hygienist showed me an article in a dental journal about children that have sleep apnea because of airway stuff, adenoid problems, palate stuff, etc. This article said that some children with developmental delays who also suffer from airway/apnea problems may actually be delayed because they are literally not getting restful sleep. They may be delayed because they have chronic sleep apnea. She also cautioned me to be extra cautious when brushing her teeth (front teeth especially). Mouth breathing causes the mouth to dry out and there is no saliva to wash the “sugar bugs” away.”
ANOTHER THANKS!!!!
A BIG STANDING OVATION for our Webmaster and tech for the list server: Mike Cermak, Jr is a great guy who is sharing his talents with us. Thanks to MIKE!!!!!!
INTERNET STUFF
A good retina site is www.vrmny.com (also includes vitreous and macula).
ADA Information for You http://www.workforceonline.com/cgi-bin/archive.cgi?topic_id=22 A database of information about disabilities in the workplace, for legal information or real-world case studies and tips.
American Chronic Pain Association
(sends The ACPA Chronicle) Quarterly
www.theacpa.org
PO Box 850
Rocklin, CA 95677
916-632-0922; fax: 916-632-3208
E-mail: ACPA@pacbell.net
ReSound just came out with very small behind the ear aids that might be of interest to persons looking for nearly invisible aids for mild hearing loss at a relatively low price.
http://www.resound.com
For anyone out there looking for information on medication use www.pdr.net
(this is the web page for the Physicians Desk Reference, The drug bible, so to speak.)
One Person’s Conference Notes
Dr Kenneth Hovland-Opthalmologist
The eye develops when the embryo is 1″ long. The vitreous is 99% water. The retina is 10 layers thick and has rods and cones. If these rods or cones are injured, they will regenerate in the retina. Some persons with Stickler syndrome are near sighted and some are far sighted. He feels that a detachment happens in 80-90% of all FAMILIES affected with Stickler syndrome. He would never advise RK -type surgeries or any “cosmetic” surgery in Stickler patients.
He explained that the vitreous is clear, and lacks fibers, but had clumps of collagen and some floaters in all persons. Vitreous detachment is pretty normal, but happens earlier in life to persons who have had eye surgery, eye trauma, and/or are nearsighted. The problem is that vitreous detachment may cause retinal “horse shoe” tears to the retina. Then, vitreous fluid may flow behind the retina and cause retinal detachment.
Not all tears become detachments. The appearance of “dark shadows” in the vision signifies a retinal detachment. His suggestion was to close one eye and move your hand to North, South, East and West positions, to check for beginning detachments.
Silicone oil , as a vitreous fluid substitute, was only approved 5 years ago by the FDA. 20 years ago, people were hospitalized for 5 days after a retinal surgery. Now, retinal tears can now be lazer treated in office, rather than hospitals. Scar tissue is the worst problem to deal with, after a detachment.
Dr David Manchester- Geneticist
He talked about “What Genes Do”. Altered DNA results in altered proteins. DNA is like a VERY long sentence and a mutation is like one misspelled letter. The problem, in finding that mutation, is that the sentence is in a foreign language and so the misplaced letter is only obvious by visually comparing the sentence to a “normal sentence”.
Dr David Collier- Rheumotologist
Most Stickler babies show hypermobility. Youth is when the hyperplesia and dysplesias show up. Teens seem to show polyarthralgia. (He says we should use the term “arthralgia”, rather than “arthritis”.) There are 21 types of NSAIDS, Non-Steriodal Anti Inflammatory Drugs. He said that Osteoarthritis is uncommon in the shoulders and elbow, but Stickler syndrome commonly affects those two areas. He explained that “Secondary Fibromyalgia” is caused by any chronic pain that interrupts sleep. He also explained why we are affected by a “change of weather”. Any drop in barometric pressure cause more pressure on the bones.
Dr Ruth Liberfarb-Stickler researcher for NIH
She has been studying Stickler syndrome patients for 23 years. In her original research, only 8 of 40 persons had the COL2A1 mutation. She thinks there is a relationship of early cataracts in Stickler patients, but there is not enough data on that subject. Cleft palate is not inherited in a dominant way.
10% of autopsies show lattice degeneration, but only 1 in 2,000,000 “normal” people have retinal detachments. 25% of Stickler patients have retinal detachments. In her original study, 24 of 38 had spontaneous detachments, 5 had detachments after cataract surgery, and 9 of 38 had detachments after impact. 72% of her study were inherited mutations and 28% were new mutations themselves.
Chris Suhling-audiologist
Chris gave a great demonstration of hearing aids and of FM systems (a one-on-one unit that a speaker wears and the listener hears “up close and personal’). She says the more you wear hearing aids, the less chance there is of more hearing loss. She also shared some financial resources for hearing aids, including SERTOMA.
Small Group Meeting
On Sunday, June 13th, a small group of Stickler Involved People met at a restaurant in South San Francisco. They sat and talked over a late lunch for nearly 2 hours. They each catalogued major symptoms, talked about NIH visits, discussed ways of coping – especially with pain, and talked about how Stickler syndrome affects families. It was a real bonding and sharing experience. They hope to organize another meeting perhaps in the fall when we’re all not so busy with graduations and vacations.
SIP Directory FORM
SIP is currently putting together a directory of people with Sticklers syndrome and related diagnoses. This directory will include information for those people who are willing to be contacted by others with Stickler syndrome. It is intended to serve as a networking and support tool for SIP. Information in this directory will NOT be distributed to people outside of SIP. If you are interested in contributing information to the SIP Directory, please fill out the following:
Name:
Address:
Phone number:
Email/website addresses:
Occupation:
For each family member with Stickler’s or related diagnoses, please include the following information:
Their name and relationship to you-
Type of diagnosis-
Age at diagnosis-
List Symptoms on back of this page (be sure to include symptoms in the following areas: vision, hearing, oral-facial, joints, cardiac, etc.)-
Other NON Stickler health care issues- (may list on back of page)
DEADLINE is October 15.
Return to Beth Johnston, 31 Timber Lane, Marstons Mills, MA 02536 or you can e-mail information to her: bethj@capecod.net
Thank you for your time and effort. Your participation is much appreciated. At this time, only persons listed in the directory will receive the directory.