Volume 5, Number 2 – June 2000
Coordinator Comment
I was contacted recently by a person very angry about having Stickler syndrome and the way they are being treated by the world. I know we were both upset at the end of our contact. Not to defend myself, but I CHOSE long ago to celebrate living and what live deals me. But, that may make me seem too “laid back” for some. I just ask that if you have unresolved grief, please work through it. It will improve your life, your family and that world that always and all ways has to be dealt with…..
Happy summer and we hope to see you in Seattle!
HELPFUL HINTS BOOK
About a year ago, we requested that you send Nancy Barry ideas for making life with Stickler syndrome easier. Nancy has collected these ideas in a 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.
INTRODUCING A SIP
“I am 46 years old and have an artificial eye, lens implant and two sclera buckles holding my retina on the only eye I have. This eye also has a blind spot from an attempt at Kryo surgery to repair the tear which did not work, my pupil is also atrophied and does not dilate anymore as a result of the bubble they put in my eye to keep the retina in place to heel. Well all in all I feel lucky because I can see well enough to drive and I can still read, I thank God for that every day. I have 8 brothers and sisters who all have Sticklers and it has passed to most all of there children too. We now have Fibromyalgia to contend with too. I myself have had arthritis since I was 18 and it’s getting pretty hard to work with this pain I’m in, although a new pill is helping me somewhat. Well it’s good to get some of this off my chest and to talk about it with others who know what it’s like to have so many problems that some people say it’s all your head. Barbara”
(Anyone is welcome to share their story for this newsletter. write or e-mail the editor at above address.)
SEATTLE, 2000
This Stickler syndrome conference in July will have a NEW approach. We studied evaluation forms from past conferences and decided to use the THEME : Living with Stickler syndrome. This means that we will have MUCH less medical information and much more “every day living” ideas. In that light, we are honored to have James May, founder of Fathers’ Network and a very gifted leader of workshops (www.fathersnetwork.org )
For this conference, we will also have sessions on adaptive devices, aide dogs, hearing aide progress, and many more. Small group sessions may include insurance issues, dealing with medical professionals, parenting issues, and sibling issues. Dr Stickler will be speaking to us and with us. A report on the progress of the NIH study will be presented.
The dates are July 7-9, 2000 and we will be meeting at the Doubletree Guest Suites in Seattle. Plan your vacation around these dates. See the flyer in March newsletter!!!
Again, we will meet informally on Friday night and the conference will end noontime on Sunday. As always, childcare will be provided. A teen session, with James May, has been added!!!!!
Stickler Publishings
SIP was contacted by the Health Development Officer for Senses (The National Deafblind and Rubella Association)
in the UK. It is an international biannual publication entitled DBI Review (Deafblind International Review), focusing on conditions/ syndromes that have the potential to cause deaf/blindness in people who have them. An article about Stickler syndrome will be included in the next addition and we hope to be able to offer prints.
Dr Stickler has sent the article with the conclusions from our QUEX to the committee that makes the final publication decision. Everyone should be excited about publication of these results. It would mean another validation of Stickler syndrome and verify the work of support groups with a medical professional.
NEW IDEA ??????
We do have some volunteers to start the scholarship project. News of that will be in later newsletter. For now, remember to use this website for all your on-line buys: IGIVE: http://www.Igive.com AND that it pays SIP money. Check it out before you make any Internet purchase!!!
SURVEY PARTICIPANTS NEEDED!
Marge Tamas is preparing an audiological survey of Stickler syndrome. Actual audiological data from large numbers of unrelated persons with Stickler’s syndrome has not been collected before. This data may show a pattern of audiological test results that are characteristic of Stickler’s. Marge would like to summarize these findings for publication in a medical journal; she will also mail a copy of her findings to everyone who participates in the survey. Only summaries, not individual identifiable data, would be made public. If you will participate in this survey, please contact Marge directly. She will send you a short medical questionnaire to fill out, and send back to her along with your test results. It will save time if you can get a copy of your Audiology test results (reports, graphs, and data) ahead of the questionnaire. Marge can be reached via e-mail at margetamas@mediaone.net, or via phone at (770) 439-6037.
CONFERENCE VALUE
I was asked a while back about the “value” to attend a conference on Stickler syndrome. At the time, I was offended and felt defensive. I had been working SO hard to do so much with so little money and felt this to be a personal issue. Now, I want to give you part of the “value”.
Before the first conference, a mother trusted us enough to send her teen daughter alone, from a foreign county, to be with us, just so she could see someone with Stickler syndrome. After the first conference, a woman came up to me and said that this conference had saved her marriage. She had never been able to totally believe that her husband could be in too much pain to do what she wanted and well enough the next day to go to work. Now she had heard the same from many others and understood.
The Second Stickler conference started with the absolute joy of watching two three year old boys, who looked like twins but had never seen each other before. They came running from different side of the room and hugged and touched and chattered, because they magically KNEW they were alike. Several adults stood there speechless, in tears.
Last year, in Denver, I had the privilege of sharing some time with three young men. I asked what they would give up to not have Stickler syndrome. The answers ranged from driving to NOTHING. One of those teens felt so OK with himself that he would not trade anything!
I am truly looking forward to the conference this year. You have read a testimonial that James May had an altering affect in one man’s life. We will have the opportunity to have more small groups discussions slanted to personal involvement’s with Stickler syndrome. Please join us there for a GREAT VALUE.
NIH STUDY UPDATE
- For the time being we are at capacity for bringing individuals to Washington, DC for the clinical evaluation phase of this study. New people being brought to NIH will be limited to family members of persons already enrolled and coming here.
- Follow up for individuals and families presently coming to NIH will now shift to
every other year. - Those individuals that have already contacted us and are in the process
of medical record collection or are on our waiting list will be prioritized and selected to come if there are multiple family members affected or if there are several generations of individuals with Stickler syndrome. - Families where there is only one person known to have the manifestations of Stickler are still welcome to participate by sending in a blood sample as well as medical records on the Stickler involved person.
So, new people finding out about the study today can enroll in off site participation (sending us medical records & blood sample). Those many individuals & families already in the pipe line (that are unrelated to
families presently coming to NIH) will be prioritized by the number of affected people in the family. This news will be disappointing to many people. These measures are presently needed to keep our research focused and meaningful. As we gain new clinical and molecular information that will guide our future efforts we expect our enrollment strategies to change. We are extremely appreciative and grateful for the resounding response we have had and are indebted to everyone’s willingness to help this research. We are confident this study will reflect the generosity of all those enrolled.
Joan (Ziggy) Balog
National Human Genome Research Institute
Bldg. 10 RM 10C205
10 Center Dr
Bethesda, MD 20892-1806
Ziggy’s Email: jbalog@nhgri.nih.gov
Ziggy’s phone: 301-496-5422
Toll free: 1-888-226-6249 (leave message)
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
New site
SIP received an invitation to take a look at a new web site. It combines Bob Naseef’s experiences and perspectives as a parent, psychologist, and writer. Bob was a speaker at our Philly conference. His site is: http://www.specialfamilies.com
He is the author of “Special Children, Challenged Parents: The Struggles and Rewards of Raising a Child With a Disability.” Carol Publishing, 1977
NEW CONNECTIONS
Our webmaster has excelled his efforts and developed a webring and a forum. Webring is a connection of member websites. So, for those of you who have (or want to view) homepages, head to
http://www.sticklers.org/webring/ to sign up. For the forum, connect to www.cermak.net If you have problems, e-mail Mike personally: webmaster@cermak.com
FROM THE LIST SERVER
“I just am blown away by the dedication I see in the e-mails from families that care for their children during all of these complicated procedures. Not only do the parents on this list have extraordinary experiences that they go through with their kids, but many of you also are forced to confront and “persuade” school personnel to meet their children’s needs effectively, which is also difficult and time-consuming. I know that these are things that many parents never have to deal with, and I just think there must be a special place in heaven for parents that have hearts overflowing with love for kids that need some special work done on their little bodies. I think that these are the parents that get an extra helping of energy or patience or strength somewhere along the road.”
“My experience with Tempero Mandibular Joint problems: if it’s a possibility, talk to the ENT, and get a referral to a cranio facial person. You need one if your child is having any orthodontic work done. We learned the hard way, Lauren’s tinnitus got worse, the jaw pain and ear pain was upsetting, and the orthodontic work made everything much worse. Everyone wanted it to be someone else’s problem, but the reality is, if the child’s face hurts, then everything is involved!! and there are no easy answers.”
“Have all your kids (toddlers- kindergarten) play w/ clay; finger paint; play w/ sand; and paint with an easel( especially up and down stokes) . These are all helpful to learning handwriting.”
“Parents are in the perfect position to get a good start with school issues. The child have an IEP if he is going to receive any special services (speech, OT, etc….) Make sure the teachers all get copies of the SIP brochures “Ideas We Want to Share” and “What you need to know.” Make sure he is placed in an appropriate class (one with extra help or fewer students). Communication is the key, don’t wait too long if he is having
trouble. “If you sense the district will not comply, then get an advocate.”
NIH CHANGES
Many of you have met Doug Wilken and/or Joie Davis at SIP conferences or the NIH. It is with great sadness that we announce they have both moved on from the Stickler study. Both will be missed.
Doug writes: “I am extremely grateful to you for helping me and Joie set up the study, recruiting hundreds of individuals and their families into the study. It is one of the proudest accomplishments of my career. Please extend my thanks to all the participants and all the members of SIP. Sincerely, Doug”
igive.com testimony
“In your last newsletter you mentioned iGive.com. I don’t what you said about it in other newsletters because I am the MASTER of how to avoid reading something! However, this month I fell off the wagon and read the newsletter. I am extremely happy that I DID.
For almost forty years shopping has been a absolute nightmare for me. For about a thousand reasons, no drivers in the family, no one willing to consistently drive even for pay, the fact that since I don’t see to well I have a tendency to tick off other shoppers because I’m blocking the isle with my nose to a box reading the label. Or, kneeling on the
floor of the isle because I can’t see what’s on the bottom shelf and I might miss something!
I have been attempting to use the Internet as a solution to my problem for a year now, but, finding things is at times a challenge! So believe me I was not expecting to find the BEST solution of all when I decided to go visit the iGive.com website simply because it was mentioned in your newsletter with a little note that it could be helpful to you if I did visit. In no way was I prepared to find a literal MALL on the Internet! NOT only does it help you, it helps ME!
At first, me being the world’s BIGGEST skeptic, I thought okay, but everything probably costs a lot more. WRONG!! I actually in the first day found two places in that mall that I will use religiously and the
prices are the same if NOT BETTER than in the stores! Not only that, but, my husband had been hunting high and low for weeks for a specific tool, and guess what I found on the second day! Also at a wonderful price, I was able to upgrade his tool to the next higher grade of model for the same price as the lower grade he had been hunting for!
This is absolutely a wonderful find, and it is no problem for me to make sure I visit EVERYDAY and get my 5 visit goal to help SIP. Not only that but I am just skipping gleefully around (which my joints aren’t to happy about), that I get a ready made tax deduction at the end of the year to boot!
So, I THANK YOU, my PETS THANK YOU (bet you can’t guess what store I went to the first day), my entire family THANKS YOU! Well maybe not my husband, he thought he was married to a woman who hated shopping, so he figured he would never have to worry about HIS WIFE having the SHOPPING BUG! OOPS! And I’m sure the mailman isn’t so happy!”