March 2006
Coordinator Comment
Our son is taking a class where the professor shared his son’s motto: Stupid should hurt. Now we are not speaking of persons with lesser IQs, but about those dumb things we all do. There have been a lot of times I have wondered about “how fair was that”. Some times life is fair and some times it is not. It is hard to remember the “fair” when the “unfair” is happening. As for the motto, I shared it at work and one man said, “it should say: Stupid should hurt, except for me.”
A FIRST
SIP wondered if there is any reader who has now read all 40 issues of the newsletter, except for the editor. Well, we got two relies and there are two such persons!!! They asked to not be named, but we are really impressed. A prize is on the way and it is NOT 40 newsletters. They both had kept ALL their own copies!
Conference 2006
The 10th annual Stickler syndrome conference will be in Omaha, July 14-16 this year. Details and registration information is included with this mailing. Make your vacation plans to join us there!!!!
ANOTHER FIRST!
The Board of Directors for Stickler Involved People has been meeting by teleconference and we have some exciting plans in the works. One decision that was made will affect you immediately. If you want to continue to receive this newsletter, you need to let us know. The June newsletter will be sent with a notice on the envelope that it is a FINAL issue, unless the recipient resubscribes. There are several reasons for this decision 1) Some persons have been on the mailing list for 10 years and we have never heard from them, 2) addresses change and we are not notified, 3) some people may no longer be interested and just have not let us know. As you may remember, it now takes about 16 hours to stuff all the envelopes we mail and the board knows we can cut some of that time and cost. (The money can sure be used for other purposes.) We do also offer you the opportunity to receive your newsletter by email. Send your email address to sip@sticklers.org or write us.
Conference AID
The SIP Board is making a special effort this year to help persons come to our annual conference. We do not have funds for airfare and will list resources below, if you need to fly. We want to work with any and all to get you to the conference. Please contact Pat if you have thought “Gee, I would go, but for the cost.” Last year, no one took advantage of the aid, so we do have some extra funds.
Conference Aid Help
1) Often a case worker can find funding for a parent to attend an educational conference locally. 2) See www.patienttravel.org for financial help with airfare for the conference, or call 1-800-296-1217. Please contact sip@stickler.org for Conference aid information.
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
Contributions Recognized
SIP received contributions from the following since the last newsletter: Kansas City Community Fund (anonymous donor)
New Film on Stickler Syndrome
Dr Stickler has now been videotaped in Toronto. Editing is next on the schedule. 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. The first film will be for lay persons and another film will be used to educate your physician. Films will only be produced as the money is available. SIP is supporting 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 REALLY needed now. Donations can be made though SIP and are tax deductible. You can contact Kim at: k.barwise@rogers.com
New Video donations: Dr and Mrs. Stickler
‘The disabilities that have presented the greatest challenges in my life are not the impairments of the body, but the disabilities of attitude’ – comedian Alex Valdes
SIP SCHOLARSHIP
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.
Scholarship applications for graduating high school seniors are on our website. Deadline is June 15. The winner will be announced at the conference.
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 “
- Everything has its wonders, even darkness and silence, and I learn, whatever state I may be in, therein to be content.
- Be of good cheer. Do not think of today’s failures, but of the success that may come tomorrow. You have set yourself a difficult task, but you will succeed if you persevere; and you will find a joy in overcoming obstacles.
- Although the world is full of suffering, it is also full of the overcoming of it.
- Optimism is the faith that leads to achievement. Nothing can be done without hope or confidence.
- Avoiding danger is no safer in the long run than outright exposure. The fearful are caught as often as the bold.
- No pessimist ever discovered the secret of the stars, or sailed to an uncharted land, or opened a new doorway for the human spirit.
- We can do anything we want to if we stick to it long enough.
BUDGET REPORT
We do not have anywhere close to the kind of money it would take to fund research (over $200000 a year). Until this year, our general fund account balance had never been more than $2000. We got a $5000 donation and used all of that to reduce the conference costs to attendees by paying for all meals on Saturday.
Most memorial gifts are used to allow a person of lesser income to attend a conference. In past years, we have paid gas for a person to bring their family to a conference or paid hotel rooms for a different family to attend, or childcare and registration for another family (who lived close and could drive home). If a donation is designated (as was the $5000), we always make sure that request is complied with. Moneys have been designated to the Scholarship fund (which is even in a different account), to the video in production, or to the conference.
For several years, Bill and Pat paid all the expenses out of their pockets. It now costs about $200 each quarter to mail the newsletters and our board is going to try to eliminate some of that expense.. The Houchins still pay the long distance calls fees ourselves and the web site and list server services are donated by our web master. There are no other expenses, except printing and sending brochures to new persons and to the Genetic Alliance. That cost is about $200 a year. SIP pays dues to the Genetic Alliance of $50 and pays a $50 fee each year to the State Corporation Commission to maintain our 501(c)3 status, Whatever donations do not cover, Bill and Pat have been covering.
Every spring, SIP asks for a donation of $10 per member. Out of over 600 names on our database, we normally get about $100. We do have two trusts that send us $200-$300 a year. Other than that, we make a small amount selling Wendy Hughes’ book. We buy them in bulk and save each buyer the cost of money conversion. We keep the postage cost, because SIP has a volunteer who pays for that cost herself. That is about it. Oh, we get a check from IGIVE.COM whenever a member used it, but that had been less than $30 a year.
The Scholarship fund pays a diagnosed high school senior Stickler patient $500 a year for 4 years, if they maintain a 3.0 GPA. The first two years, those people did not keep up their GPA and this past summer, no one applied. Dr Stickler set that fund up with a beginning sum and he has made several contributions to it. Our Board is working on ways to promote the scholarship awareness.
Hope this gave you the answer you need to be comfortable that your donation will be spent as you choose. Most Not For Profit organizations have a 10-20% overhead, to pay for administrative expenses, SIP has a negative figure for administrative expenses. Bill and Pat even pay out of their pocket to attend each conference. None of this is to brag, but to explain SIP finances.
STICKLER Syndrome WORLD WIDE
AUSTRALIA: Stickler syndrome-Australia Support Service (SSASS) is a small group with few inquiries. Newsletters are produced 1-2 years, depending on demand. Contact can be by either internet, phone or writing, though internet is preferred. Stickler Syndrome Australia Support Service (SSASS) 7 Noojee Court, Kallangur. … Qld 4503. AUSTRALIA PH: (07) 3886 0665 E-mail: ssass@hotkey.net.au No web page as yet.
CANADA: www.barbspage.com/stickler.html, email: lockey-shea@canada.com
NETHERLANDS: Their web site is http://www.bosk.nl/templates/mercury.asp?page_id=5634, or just surf to www.bosk.nl and click the Stickler’s button. This is only support in the Dutch language. Central e-mail address is BvanBeek@bosk.nl
THE UK: Stickler syndrome Support Group (SSSG) is in the process of re-vamping their website, so do have a look at it. www.stickler.org.uk The email for SSSG is info@stickler.org.uk
RELATED HELP:
Pierre Robin Syndrome (PRS): Pierre Robin Network was formed to network families and individuals with PRS and provide information to anyone who has an interest in PRS. The web site is www.pierrerobin.org, email address is info@pierrerobin.org
LETTERS WE LOVE
“We have found nothing as worthwhile as the annual conference to gather information about Stickler’s, not only from the presenters, but from others who have similar symptoms. It is been terrific for my two boys to see and meet others with SS. I think it is also great for them to see happy, well-adjusted and successful adults with SS too!”
“Great friends, great presentations and always a good place to visit to boot! If you have the opportunity to go, GO! And once you do, I think you will want to find a way to get there each and every year!”
“Thank you for your links, it made documents for my small paper about Stickler Syndrome easy to find, verifiable, and accurate. More power to you, staff and organizers of this site, I wish you well. “
TWO WEB SITES
THE WELL SPOUSE ASSOCIATION
Well Spouse is a national, not for profit membership organization which gives support to wives, husbands, and partners of the chronically ill and/or disabled. To contact a support group near you or to learn how to start a group, please go to our “SUPPORT GROUPS” page.
Free education is available to anyone in the US who is legally blind or blind or if you live with someone who is one of those. The web site is www.hadley.edu Or phone 800.323.4238
Limitations of genetic testing
Genetic testing isn’t 100 percent predictive. Limitations to the predictive ability of genetic testing include:
- Many genetic tests fail to detect all of the mutations that can cause a disease. Cystic fibrosis, for example, is linked to hundreds of mutations — most of which are rare. Other diseases are caused by mutations that can occur in
one of several genes. So while you may test negative by current methods, you may have another unknown genetic defect that increases your risk of a particular disease. (Stickler syndrome has at least one unknown mutation, at this time).
- A positive result doesn’t mean you’ll develop a disease. Genetic tests can’t always tell you with certainty whether you’ll develop a disease. They can only tell you that you have a mutation that’s shown to be associated with the disease. Your probability of developing the disease may be low or high.
- A negative result doesn’t mean you won’t develop a disease. Not inherited, sporadic gene changes can occur, (Stickler syndrome is a sporadic mutation in 20% of us). For example, most cancers result from genetic damage that occurs after birth, such as from smoking or exposure to UV rays.
- A positive test doesn’t predict severity of the disease. For example, symptoms of cystic fibrosis range from mild bronchial abnormalities to severe lung, pancreatic and intestinal difficulties, regardless of results from genetic tests.
- Genetic testing can be expensive. Costs range from less than $100 to a few thousand dollars. Your health insurance may not cover testing.
Maintaining your health after genetic testing
Learning that you don’t possess a gene mutation that predisposes you to a disorder can give you peace of mind. However, this shouldn’t prevent you from maintaining your health through balanced nutrition, regular exercise and regular health screenings.
A positive test result allows you and your doctor to monitor your health and start treatment as soon as it’s necessary. It might also allow for you to take certain preventive measures, (which would be more frequent eye exams and avoiding joint impact). What you do will depend on what disease you’re at risk of. Even if effective prevention and therapy aren’t available, you can take steps to protect your health, including having regular checkups.
Knowing you’re at increased risk of a genetic disorder can be stressful and could strain your relationships with loved ones. If you test positive for a gene mutation, it could have emotional and financial implications for your children or your future children. For instance, it could result in higher insurance rates or you could be denied insurance entirely.
From: www.mayoclinic.com/health/genetictesting/FL00076 (with additions in parenthesis specific to Stickler syndrome)