Volume 3, Number 5 – March 1999
Well!! A GIANT THANK YOU to each of you who took the time to fill out the SSSG/SIP survey. Dr Stickler is VERY busy compiling the data and will be reporting to the SIP conference in June. I hope you are as excited about this as I am!!
PLEASE read this newsletter carefully. There are many Stickler syndrome History Making events included for your knowledge.
NIH STUDY Status
As you may know the National Institutes of Health is in the second year of a 5 year connective tissue disorder study. Stickler syndrome is one of three syndromes being studied. If you want to volunteer for the NIH study, contact Joie Davis at 1-800-644-2337 #4994 or e-mail her email@example.com
Groups are now starting to study the biology of a type of cell, called bone marrow stromal cells. These are the cells that eventually make bone and cartilage, and are thought to be the cells that will be the targets for gene therapy in Stickler syndrome and related disorders. Doug Wilkin has been a approached by the NIH group that studies these cells, and asked to lead the NIH effort. SIP will miss him, as a part of the Stickler study, AND we are very excited that he will take our work with him. PLEASE understand that this is a project to find a CURE for Stickler syndrome. Get excited!! Tell your friends that you are happy to pay your taxes this year!! Tell your doctors to watch for the news!!
As a result of the NIH studying Stickler syndrome, one medical journal article has already been published, determining that there is a fourth gene mutation for Stickler syndrome. The bio is “Wilkin DJ, Mortier GR, Johnson CL, Jones MC, De Paepe A, Shohat M, Wilden RS, Falk RE, and Cohn DH. Correlation of Linkage Data with Clinical Features in Eight Families with Stickler Syndrome. American Journal of Medical Genetics vol 80, pages 121-127, 1998.
Again, if you want to volunteer for the NIH study, contact Joie Davis at 1-800-644-2337 #4994 or e-mail her firstname.lastname@example.org
DENVER COLORADO is the place to be for the 1999 Stickler Conference. Rick, Randy and Sheri Bishop will be hosting us. June 11-13, 1999, at the Marriott TechCenter. Rooms will be $59 a night, conference rate. Call 1-800-228-9290 and tell them you are with Stickler Involved People. The hotel’s reservation deadline is May 13 & conference registration deadline will be the same day.
There are both indoor and outdoor pools, a sauna, Jacuzzi, and exercise room. The room price was just reduced and now includes breakfast on Saturday and Sunday. This is an exceptional value for each of you who are able to attend the conference next year.
Please set this time aside to join us. We have carefully considered all the evaluation forms and incorporated ideas that will work for next year. Also, we will be doing more panels with doctors and , therefore, more small group discussion time. We also are working on a “select one of the following” format, for special interest situations.
Bennett’s Bar B Que will be the location for our Saturday Nite Event. Those who wish may order from the menu which varies from $7.00 to $16.00. The chuck wagon style buffet will be available for adults at $16 and kids at $8. The buffet will consist of barbecue beef, ribs, chicken and pork, with beans, cole slaw, potato salad and Texas toast (subject to change). Please be prepared to include this cost with your registration fee for the conference. The registration forms are in this March newsletter.
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
What we have done
This seems to be time for referral organizations to refresh their lists. We have filled out at least 10 forms. Our membership is close to 350 families and grows almost daily. It has been a very busy season for Wendy’s books and on the list server. The conference plans are DONE and that flyer is enclosed. We are considering a cruise for 2000 conference. Watch for details.
GREAT GIFT FOR YOU
Melissa Ratchford is 17 years old and just had her first book of poetry published. The book is called “Poetry From The Soul”. The poems were written from life experiences, good and bad, as a person living with Stickler Syndrome. She have vision, hearing and joint involvement with Sticklers and has the Stickler Syndrome look. She was teased a lot at school. She felt like she had no one to talk to, so would write until she felt better about whatever was bothering her. It helped to heal her and can help you.
The books cost $5.00 American. One dollar from every book sold to SIP members will be given to the Canadian branch of SIP. If you are interested write her:
14 Wade Street
B4N 1B6 or e-mail : email@example.com
The National Marfan Foundation annual conference will be July 7-10, at Center for Genetics, Allegheny University, Allegheny General Hospital, Pittsburgh and the Pittsburgh Marriott, City Center. For more information, contact NMF at 382 Main Street, Port Washington, NY 11050 or call 516-883-8712. NMF is a partner with SIP in the Coalition of Heritable Connective Tissue Disorders
Again, The dates for the Third Annual American Stickler Conference are June 11-13, 1999 at the Denver Marriott-Tech Center. PLAN NOW to join us then.
A summary of Nov. SSSG meeting
In addition to describing the different types of Stickler Syndrome, DR Rai presented the four main causes of joint problems in Sticklers:
- Joint Laxity without arthritis for which the main treatment is physiotherapy. Specific exercises, different from those used for OA patients are used.
- Mechanical problems : Knock knees (treatment tends to be appropriate splinting rather than surgery) & Loose bodies causing joints to lock (treatment usually consists of a washout)
- Fibromyalgia syndrome, which is not unique to Sticklers. The problems it causes are not due to arthritis, but to the soft tissues around the joints. Multiple tender points, fatigue and general lethargy are major complaints from patients. Treatment may consist of physical therapy. Sleeping pills are not appropriate, but a drug used for treating depression can be used in lower dosages to improve the quality of sleep.
- Osteoarthritis Stickler syndrome predisposes towards OA. OA is influenced by:
- Systemic factors (e.g. age, gender, racial characteristics, genetics, bone density, HRT, nutrition)
- Mechanical factors (e.g. joint injury, obesity, joint deformity, muscle weakness) which in turn affect the site and severity of OA.
Nutritional studies have shown that low levels of vitamin C & D do not increase a person’s risk of developing OA, but where OA is present, degeneration appears to progress faster in people with low levels of these vitamins.
STICKLER LIVING BOOK
We are working on a project to help our budget. It is a booklet written by members of SIP. It will be a living document, in that it will grow as members send in their story and it is a document on living with Stickler syndrome. This will be a fund raising project for SIP.
Melissa Ratchford is editor and has worked VERY hard on this project…. MANY hours and we owe her many thanks. The booklets are now available by mailing $6.50 to SIP, 15 Angelina, Augusta ,Ks 67010
HINTS from LIST SERVER
It’s illegal in most states to raise insurance rates because of a pre-
existing condition. If it happens to you, contact your state’s insurance commissioner.
In research on herbal alternatives, one person found an article on ginger. It says to take one teaspoon of ginger daily, dry or fresh, cooked into recipes or boiling water as tea. It helps with pain as well as nausea.
If your child has an aide at school, invite your child’s aide to be included in all PET, IEP, or parental conferences. They spend a lot of time with your child and see things others might miss. Also, take an outside listener with you.
Lets Face It has a list of books that they recommend for children. One that fits the Stickler involved children is about Arthur, an aardvark and is called Arthur’s Nose, Arthur’s eyes. In the book, Arthur decides that, though he is different from the other kids, he likes himself the way he is and so do his classmates. Lets Face It is reached at PO Box 29972,
Bellingham WA, 98228 or http://www.nas.com/~letsfaceit
DO YOU WANT US?
There are mailing lists that we all could name that just keep sending us things that just get thrown away. If this newsletter is one of those for you, or if you want to be taken off the SIP contact list, write to the News- letter address: 15 Angelina; Augusta, Ks 67010.
All of the other Stickler groups in the world are referenced on http://stickler.org/
Another Email address we want you to be aware of is http://www.Igive.com
This is an advertising website that pays Not-for- profit organizations for your sign-ons. SIP is listed, and you have to register us for us to get paid. So far, we have earned $46.17 from having enrolled members with them.
Try it and see if we can add funds to SIP. There is a place on that website to buy books and toys, and 5% will be donated to SIP. THANKS!!
On A Roll
America’s only live weekly radio talk show on disability lifestyle issues has expanded its airwaves. On A Roll has steadily gained awareness in the grassroots disability community, and has become a significant national source of news, resources and discussion. On A Roll airs live Sunday nights at 9:05 PM Eastern Time on the Talk America Radio Network, and on the Internet at
Check locally to see what you can hear.
a poem by Glenda Brunings
The symptoms were there, they filled us with dread;
But the Doctor smiled and then he said,
“It’s called Stickler Syndrome. There’s no need to fear.
There’s lots of support for you out there.”
So armed with the knowledge that a Support Group could bring,
We set off home to start with a ring.
The telephone was answered with a voice that did please
With knowledge that soon put us all at ease.
Groups, chat line, and friendship; all with a common aim –
Around the world, America, Australia, and Great Britain.
No matter what country, the help was the same.
With knowledge to help us was their aim.
Newsletters soon would be welcome reading too.
As groups shared around what they all knew.
So as you join us, please feel free
To come in and share with your new family.
A website to learn a “sign a day” and basic finger spelling is www.deafworldweb.org
WE WANT TO LET YOU KNOW WITHOUT YOUR HELP WITH MY SONS EYES HE WOULD BE BLIND IN THE LEFT EYE AND WHO KNOWS IN THE RIGHT EYE. MY HUSBAND AND I OWE YOU BIG THANKS!!!
I saw a brief on TV the other day where they were mentioning Dr. Spock, and the narrator said something about finding the appreciation in what your child can do, and not what they can’t.
This simple and obvious thought hit me like a ton of bricks; I have spent so much time looking for the potential problems, and not appreciating each small progress, and I really have made myself aware of this fact. I think my goal is to keep my concerns reasonable, and it’s tough… especially when you can’t predict the future! 😉 I think I’m going to make an attempt to continue sharing, and not be so concerned about our friends and family. Sometimes I feel like I’m explaining things all the time, rather than just enjoying.
Addresses for researching medical issues:
A website on children with chronic conditions, their care and schooling is
www.cleftnotes.org is a cleft palate website and organization as is www.widesmiles.org
http://dietary-supplements.info.nih.gov is a website from the NIH, concerning dietary supplements and their safety.
www.centerwatch.com is a website for clinical trial information. If you know someone that may be interested in a cancer treatment clinical
trials the web page is www.cancertrials.nci.nih.gov
NEXT STICKLER LIVING BOOK
Sharing feelings and concerns is very healthy and helpful also. So, please write down your story, even if you choose to not send it to Stickler Living Book. You may submit your story to be printed anonymous, but our editor will need to have your name. Do it NOW, to get into the next edition of our ongoing booklet.
The following risk factors have been shown to be effective in preventing OA: a) avoid obesity ; b)avoid knee injury; c) avoid jobs which require repetitive knee-bending or heavy lifting : d) Hormone Replacement Therapy (HRT) for post-menopausal women; e) Muscle strengthening exercises (following assessment of how effectively muscles are already working to protect joints)