March 2002
Coordinator Comment
Another new year and another exciting conference!!!!! (see enclosed details). Each new region of the country gives my family a vacation opportunity that we might have not taken otherwise. We were talking about decisions and the way life turns, after a decision is made. I think of all the struggles to get a diagnosis for our child and to get the RIGHT medical help. Looking back, it does not seem so over-whelming. I think how very much we would have appreciated the chance to meet with others affected by Stickler syndrome, when we were new at this. PLEASE do not deny yourself the privilege of meeting Dr Stickler and being with others who “have been there” . There are not words to tell you what this might be worth to you and your family. Each conference offers different approaches, or thoughts, to deal with our lives. Join us to share yours!
RESOURCES
All of the other Stickler support groups in the world are referenced on http://stickler.org/Â SAVE SIP WE promised to not “bug” you about sending your email address, for the newsletter. Just please remember that if you CHANGE email addresses, send a notice to sip@sticklers.org … Again, thanks to all who have helped in this way.
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
SIP will also forward membership fees to SSSG, to save you monetary exchange fees. INTRODUCING A SIP “I am myopic and have a high degree of astigmatism and thought nothing of wearing glasses, until I hit the sixth grade!! I HATED my thick glasses. This was in the late 60’s when little wire frames were “in”. I needed to see but I desperately wanted to be “hip”. My optometrist tried everything to talk me out of ordering a pair of wire frames. I did it anyway. I anxiously awaited my new “hip” specs- When they came in they were horrible!! My thick lenses looked so out of balance in the wire frames. I cried and cried. From that point I quit wearing glasses. I would take them off as soon as I walked out the door and put them back on when the bus dropped me off. My school work went down hill as I was too shy to sit close to the board. I became unfriendly as I could never see who I was passing in the halls. I do not know how I made it through school. When I was 18 they said they might have a contact that would work for me. I was so excited. When they came they were hard lenses and the size that people wear with a cornea transplant. They felt like two pieces of glass in my eyes. They had custom weights which didn’t work. They floated around my eye and were awful. Gave up again and only wore my glasses when at home. I worked as a secretary and could never see exactly what it was I was typing! Tried waiting tables in the evening and that was a disaster. I picked up plates with the food still on them; I couldn’t see the tables in the dark at all!!! Vanity is a funny thing. Ten years ago my husband and I got married. He knew my eyesight was bad but did not know how bad. We were fortunate enough to have a great health plan and I went in for a check up about six years ago. They had a new soft contact they thought would work for me. IT DID. I can see well and they are comfortable! I wept with joy!!! I have come full circle. Six months ago I decided I needed bifocals. Went in and was told to pick out a pair of frames. They were all wire type frames and so small and fragile. I said I couldn’t possibly fit my lenses into these tiny things. She said that with new technology my lenses would be very thin. I now, at the age of 44, wear the tiniest, thinnest pair of WIRE FRAMES! I love them. This time when I saw my glasses I cried with such joy! I was diagnosed with Sticklers about 9 years ago. I have mostly eye and joint problems but was diagnosed with a mild hearing loss recently. My 22 yr old daughter is very flexible and was born with a cleft palate, she has a 60% hearing loss. I have 3 siblings all with various manifestations of Sticklers and about half of our kids are Stickies too. My little grandson is almost a year old now and has clicky, poppy shoulders and a small mouth so not sure about him yet. I felt very alone with my family’s strange collection of health problems and it is very frustrating to visit doctor after doctor and hear “Never heard of Stickler Syndrome before.” The emotional impact of finding this group is something I will never forget.. Feels like family!”
Sydney
CONFERENCE 2002
We will be holding the conference this year to Baltimore, June 14-16. Dr Francomono will be offering a clinic on Friday, for those who are not in the NIH study. The enclosed brochure gives all the details. The reason that registration is higher for persons not staying at this hotel is that SIP get a reduction on meeting room costs, for the volume of rooms rented. Please be sure, also, to tell the reservationist that you are booking a room with SIP. Also, see www.patienttravel.org for financial help with airfare, or call 1-800-296-1217.
A TESTING CENTER
“The genetics counselor found the lab on the Internet, which did sequencing. It took from July 4th, when the blood was taken, until Dec. 6th, when the genetics counselor called with the results. We had anticipated up to a year. It cost $1500 US for the proband (first participant), and will be $500 for each additional family member. The lab name and address are as follows:
Center for Gene Therapy
Tulane University Health Sciences Center
1430 Tulane Avenue SL99
New Orleans, LA 70123
(504)988-7708; fax (504)988-7710
A Dr. Jarmo Korkko signed the report.”
IGIVE UPDATE
The life to date earnings for SIP: $610.31
2001 earnings for SIP: 56.40 This money is designated for the Conference
Financial Aid fund. Please remember to make online purchases through igive.com. This costs you nothing extra and obviously benefits SIP.
HEALTH INSURANCE PROTECTION
Are you aware of the Federal health coverage protections under the Health Insurance Portability and Accountability Act of 1996 (HIPAA)? HIPAA OnLine helps answer consumer questions rapidly and accurately on the Federal health coverage protections provided by HIPAA. HIPAA OnLine is at
http://hipaa.hcfa.gov by clicking on the HIPAA OnLine logo. You can
download a booklet explaining HIPAA protections by clicking on “Publications” on the home page at http://hipaa.hcfa.gov or you may order a hard copies by calling 1-800-633-4227.
“We could learn a lot from crayons: some are sharp, some are pretty, some are dull, some are broken and some have weird names, and all are different colors…but they all have to learn to live in the same box.” Unknown PUBLICATION FOR THE INTERESTED The National Institute of General Medical Sciences (NIGMS) brings science to the public with two new publications. Genes and Popula-tions, a new eight-page, educational brochure, describes in lay language the scientific rationale behind studying identified populations in genetics research. In a question-and-answer format, the brochure explains the basic principles of genetics and genetics research and the safeguards that protect individuals and groups in research. NIGMS also offers the latest issue of Findings, a 16-page science education publication. Findings features profiles of scientists supported by NIGMS, a roundup of clinically relevant research advances, and a crossword puzzle based on the issue’s theme. For a free copy of either publication¸ contact the NIGMS Office of Communications and Public Liaison at (301) 496-7301 or e-mail your request with your postal address to Pub_Info@nigms.nih.gov.
Disability Dogs
Have you ever wondered if a service dog would be appropriate for the person in your life who is living with a disability? Check out this new service dog website www.sdid.net It is full of information and first-person testimonials. WEBSITES TO LEARN FROM http://www.family-friendly-fun.com/
This site offers a broad range of information and resources – including the arts, finances, disability, education, homework, nutrition, health, sports, travel and spirituality – to enhance the quality and enjoyment of life for a family with special needs.
http://communities.msn.com/SticklerPeople
is a CLOSED chat room, set up by one of our members. She will get your email, sent through MSN and OK you to join the chats. There are about 31
people using the Chat Room now. Our list server is also active with about
100 members. Instructions for joining the list server are on our website.
http://www.disabilitycentral.com/activteen/index.html,
features teen-oriented chat rooms, message boards, an “e-zine,” a game room and a pen pal area. A part of Disability Central’s site, ActiveTeen is written by — and for — teens with disabilities.
is financial airfare assistance to our conference. National Patient Travel HELPLINE is 1-800-296-1217.
http://dmd.aspetjournals.org/cgi/content/full/29/4/611
is an article called “Prospects for Pharmacogenetics and Ecogenetics in the New Millennium”