Volume 3, Number 2 – June 1998
It may be spring fever or the fact that Bill is out of town for two weeks in a row, but I am tired…. Do you know that feeling?
I still have the great excitement of the conference in July and great joy looking back on all the work having been done on the new booklets and on the questionnaire and on the soon to be new website. That all overwhelms me and excites me at the same time. Do you know those feelings? Be there for someone who needs you, to share their feelings with you.
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
You will soon be able to make Stickler syndrome history. Dr Stickler created a questionnaire about Stickler syndrome and its effects on you. SSSG and Sip have honed the process. We plan to distribute the question- naire at the Philadelphia conference and those who cannot attend will receive one copy, (after the conference,) under separate mail.
Please, PLEASE take the time to fill out a copy of this survey for each affected person in your home. This kind of study has NEVER been done before and will take 10-15 minutes of your time, but may change your life! The opportunity each of us now has is so overwhelming that you should get goose bumps. It is SO exciting to have Dr Stickler working on Stickler syndrome again! We also owe a BIG THANKS to Gill Mullinar for all her work on this project.
NIH STUDY Status
The National Institutes of Health (NIH) is working on getting all who volunteered for their study into the system. Some will only send data from their doctors. Others will go to NIH for exams. Joie will have an interview table at the Conference, to help speed the process. If you want to volunteer for the NIH study, contact Pat. Joie sent us a very special way to help. If ANY of your family has joint surgery, the NIH needs to be contacted in advance.
The following is an e-mail from a family who has been to the NIH. “It was long, tiring three days and we are glad to be home. We underwent eye exams, photographs of the retina, ultrasound of the heart, cat scan of the auditory system, ultrasound of our throats, x rays, blood draw, and an exam of our joints by a rheumotologist. We were very well taken care of by Joie Davis, the genetics nurse overseeing the clinical exams. For those of you waiting to hear from Joie, I found out that this a very complicated scheduling jigsaw puzzle.
She wants as many families to participate as possible, but she has a lot of schedules to juggle to accomplish this. We were only the second family that she has brought in from out of the area, so she is fine tuning that as well. We will go back to the NIH yearly for the next four years as part of this study. I should be getting a summary of all the findings in about two weeks. We were given a brief summary after each exam, but this will be more detailed.
Everything was on the government!! We were sent the plane tickets. All travel accommodations were made through the NIH. We were put up at the Children’s Inn, which is like a Ronald McDonald house. We were given a voucher for food (eighty dollars) for our three days there. We were on the schedule for four days just in case they needed to catch up on any appointments, so we were actually given one extra day’s stipend. We did eat breakfast at the hospital (about ten dollars for the both of us) and Joie arranged for a hospital tray at lunch (yum yum). We did a lot of snacking out of boredom during the day. At night we went back to the Inn. We were done by five on Monday and Tuesday. You can cook your own meals at the Inn (they provide transportation to a grocery store) but since we were so tired we just ordered take out. So, really we weren’t out anything, except the metro ride we took and a little shopping we did.”
A New Project!!
Nancy writes “I am making up a booklet on helpful hints for living with Stickler Syndrome. I need lots of input from my sticky friends. I will categorize the information so it can be a quick reference book. Please send hints to me via private mail or e-mail. I have started the booklet and needs lots of hints. I am looking for daily living hints, like all the ones I have been told about helping my son get along better at school. My main focus will be on simple ideas to help people adjust. You know, everyday practical ways to live with Stickler syndrome. Start those ideas coming!”
Please, please, send them!
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STICKLER LIVING BOOK
We are working on a project to help our budget. It is a booklet written by you. 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 will be available at the conference and by mailing $6.50 to SIP, 15 Angelina, Augusta, Ks 67010
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.
July 10-12, in Philadelphia, is the place to be for the next Stickler Conference. The deadline for registering for the conference is June 15. You have received a brochure, but if you have misplaced it, send $25 to SIP, %Karen Olehy, 202 Circuit Court, East Peoria, IL 61611 BY JUNE 15. You will need to contact the Holiday Inn Midtown in Philadelphia for your room reservation.
In connection with that Annual Meeting, we will be electing new officers for this group. Ballots are included in this newsletter, for the slate of officers who volunteered. Please return your ballots today. A special thank you to each person who is on this ballot.
What we have done
We have gotten more volunteers doing more exciting projects and more interest in the conference from professionals. We have gained persons from two new countries. We have averaged more than one new family a week. Several students are writing reports on the topic of Stickler syndrome.
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 Newsletter address: 15 Angelina; Augusta, Ks 67010.
In the beginning….. We tried to get a name for this newsletter. But, for what ever reasons, we only got one suggestion. This contest yielded three suggestions. NOW, you get to VOTE>>>>> The suggestions are included with the slate of officers. Mail your votes to SIP, 15 Angelina, Augusta, Ks 67010.
A Member’s Request
SIP did receive one answer to the request for “news” about successes (or lack of) with surgery to correct speech. That response will be printed next newsletter. Thank you for caring…..
One person writes: “There are probably a number of related syndromes lumped under the name Sticklers. Some are due to defects on different genes that affect different aspects of the production or formation of a collagen used in cartilage and vitreous (which is different than the collagens used to form bone and muscle, for example). Some are due to the defect being in a slightly different location or of a slightly different type on the same gene. Collagens in general are very complex molecules, and errors in how they’re built or in the quantities in which they’re produced can cause effects ranging from non-existent to major. Because everyone is different, there are probably secondary interactions which cause individual differences in how the problems may be expressed. So you’ll find that some people have the full-blown classic syndrome, others only a single obvious item but other subtle effects. Stickler’s is easy to miss in a lot of people, and it’s only by taking a look at the whole person that a diagnosis can be made.
Likewise, a genetic blood test can result in a positive result if the defect is in a location on a gene where research has determined that an error will cause Stickler-like symptoms, but there are other genes and locations as yet unmapped or not yet connected to the syndrome.
Disclaimer – this is just how I explain it to myself, I’m no doctor.”
Another member writes: “I was checking some info on Retinal transplantation which is a long way from helping us but it could have an effect on us in 10-20 years.. At least it is worth studying for our kids.” He found this website: http://cpmcnet.columbia.edu/dept/eye/retina/welcome.html
Glenda Brunings, who is working hard to get the Australian group going has a new e-mail address as of June 1, email@example.com Their website is http://dove.mtx.net.au/~mrossnay/stickler.html
Barbara Lockey is also working on the Canadian website at http://home.ican.net/~17976
And last, but not least, the English website is http://www.netcomuk.co.uk/~gfmsssg
WideSmiles just announced a new addition to their website, the WS Kidz Club. There are safe surfing rules, a place to meet one another, links to fun kid’s things on the web (all checked for kids safety), a place for fun and games, a “reading room” (to discuss books they read), a message board, a pen-pal page – and tons more. Its bright, colorful, inviting and user-friendly. Find this at: HTTP://www.widesmiles.org/kidz
Another Email address we want you to be aware of is http://www.eyegive.com
This is a website of advertising 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 not seen anything adverse from having enrolled with them. Try it and see if we can add funds to SIP. THANKS!!
“I love what you are doing and will help in any way. I feel like I have a ‘leg to stand on’ now when I go to a doctor and try to explain Stickler syndrome.”
Another Reader says: “What I see the adult stickies going through, scares me for my child’s future, but I agree that it give something to expect, and kind of gives us things to look out for. I know I go home and look for different things, based on what I have read here. I see some things, and not others…. There are handicaps that are not visible, and handicaps that are not physical. In the words of an Austrian “Liedermacher” named Wolfgang Ambrose – “Jeder ist a Minderheit” which means “everyone is a minority.” Love and Peace and a modicum of comfort to all of you… Cheers”
Still another response: “Thank you so much for this wonderful opportunity to gain more information about my daughter’s syndrome.”
Another member e-mails: “We all would deal much better with definite answers. But, we are light years from where we were even seven years ago. So much had been accomplished. Yes, a lot more needs to be done. There are many “syndromes” to be considered, which I know most of you have come across in the search for information: Wagner’s, Marshall’s, Marfan’s, Velocardiofacial Syndrome, Trisotomy 13, to name a few. And frankly, different theories are held by different specialists. Go to three separate clinics and you may very well get three differing opinions. It has even been suggested that perhaps the variability of symptoms is due to the fact that what is labeled Sticklers may actually be several very closely related collagen disorders. This group is wonderful and provides support and information to many people. I’m glad I found it. I just wanted to point out that new things are being discovered all the time in many areas, Stickler’s being one. I thought it might be helpful to point out how far things have come. Keep up the good work!”
Those of you who write are greatly appreciated!