Volume 3, Number 9 – March 2000
Coordinator Comment
Well, it is hard to believe that this is the fifth year for Stickler Involved People. We have a membership of over 400 families, having grown 10 times our original mailing list. We have had three VERY successful conferences and the planning is going strong for the next. We have the great list server and better website, even translated for virtual worldwide reception. We have a directory and two booklets and Wendy’s great new book to offer persons wanting more connection. I am proud of each of you and what you have contributed. Almost daily, I am given the blessing of feeling that we have made a difference. Take a moment to be greatful!!!
SPANISH OR FRENCH, ANYONE?
One of our VERY talented members is working with our webmaster and is translating the core pages of our website into both Spanish and French. This is a GREAT resource, and it is a site in the works. So, check it out at http://stickler.org/
SEATTLE, 2000
This Stickler syndrome conference in July will have a NEW approach. We studied the evaluation forms from past conferences thoughtfully 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 )
Dr Stickler will be speaking to us and with us. A report on the progress of the NIH study will be presented.
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. The dates are July 7, 8, and 9, 2000 and we will be meeting at the Doubletree Guest Suites in Seattle. Plan your vacation around these dates. See the enclosed flyer!!!
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!!!!!
NEW FEATURE INTRODUCING A SIP
I am a 35 year old Canadian, who lives in London and I am a Registered Nurse,
I did my training in London and have lived here 10.5 years. I also lived 4.5 years in Stockholm Sweden as a nanny. I was born with a cleft palate, but did not have a hair lip. Apparently the doctors didn’t have a clue what was wrong with me (small town BC) and was flown to Vancouver at 3 days old. My father who was 28 at the time, had just
finished having his first cataract surgery in Vancouver. My mother also said the doctor said he had just delivered a baby with no chin. I have fairly crooked fingers and my middle right one is quite disfigured and painful at times. I have a right cataract first noted July 98, and is now very dense, and woke the other day with extreme blurred vision. The fluid at the back of the retina has come away, so am now going to a clinic every 3 weeks.
All this comes from my fathers side, as many of his cousins have had cleft palates and bad eyes. My father also has glaucoma and has had tears in his retina. He also is quite deaf and was so when I was a teen ager. This may
come from working in mines, I don’t hear all tones, but I think that is normal for most people. I also have quite a weak back, but this could be an occupational hazard. Kirsten
HELPFUL HINTS BOOK
About a year ago, we requested that you send Nancy Barry your ideas for making life with Stickler syndrome easier. Nancy has worked so hard to collect the ideas in this 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. Or e-mail her at: nbarry@adams.net
GOOD NEWS
Robert Frack, of Philly, is one of our “SIP Good Guys.” Not only did he get his Lion’s Club to donate $250 to SIP, but he has a fund raiser going for us. If you are interested in purchasing his video on massage therapy, his profit will be donated to Stickler Involved People. We have a copy of the tape, if you need to preview it. Orders can be sent to
Robert Frack
5801 Newtown Ave.
Philadelphia. Pa. 19120
E MAIL : Frackie@cris.com
RESOURCES
All of the Stickler groups in the world are referenced at http://stickler.org
Sharing LIST SERVER
“My advice to you(and other parents!!!) is to get a child’s hearing checked often. You can do this yourself by paying close attention to what sounds they are and aren’t responding to. If you notice anything out of the ordinary, have it checked out. Also…and I can’t stress this enough, don’t put your child in noisy situations! ”
“It’s been twelve years since I was new to the diagnosis, and my most useful preventatives, are 1] working closely with professionals, medical and educational, and having regular checks for hearing and vision, and asking for and giving information, so you have confidence in each other, and 2] keeping on communicating, especially within the family.”
“I went to the SS conference last weekend here in the UK. We had a talk by a (PT) physiotherapist who just happens to have SS too. He talked about manipulative massage which is done to affect the connective tissue.
Apparently it stimulates the blood vessels and nerves and can be beneficial and help with pain. I think he also advocated acupuncture as well.”
“In the Arthritis Magazine that we received today there is an article that they are going to do research on glucosamine supplements. Apparently this is the first research done on glucosamine in North America. If anyone is interested in getting info on this check out the website www.arthritis.ca ”
SIP Directory
SIP is currently putting together a directory of people with Sticklers syndrome and related diagnoses. It is intended to serve as a networking and support tool for SIP. Information in this directory will NOT be distributed to people outside of SIP. If you are interested in contributing information to the SIP Directory, contact Beth Johnston, 31 Timber Lane, Marstons Mills, MA 02536 or you can e-mail information to her: bethj@capecod.net
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
NANCY and PRS
Nancy Barry once again has seen a need and filled it. She started a website and connected support for persons affected by Pierre Robin syndrome (PRS). To find out more about this, check out the website. http://www.pierrerobin.org
NEWS FROM SSSG
The following booklets are available:
- Stickler Syndrome What Is It?
- About the SSSG
- Eye Involvement Within Stickler Syndrome
- Joint Involvement Within Stickler Syndrome
- Stickler Syndrome a Diagnostic Aid for Professionals
- Understanding Genetics Within Stickler Syndrome
- Genetic Testing for Stickler Syndrome
- Cleft Involvement Within Stickler Syndrome
- Hearing Loss Within Stickler Syndrome
- Speech Therapy Within Stickler Syndrome
Cost of booklets to families in the US:
Up to five booklets US $20
6-10 booklets US $30
These prices include postage to the US and dollar checks are acceptable.
Send order requests to Stickler Syndrome Support Group, PO Box 371, Walton on Thames, SURREY, KT12 2AZ, United Kingdom. Make checks payable to Stickler Syndrome Charitable Trust.
Also NOW available:
Book: Ten Years On by Wendy Hughes.
This book divided into three sections tells the story of the founding of the Stickler Syndrome Support Group in the UK in 1989, and highlights how it all began, the group and its growth, and how it raises awareness. The middle section gives the reader a fascinating biographical sketch of Dr Gunnar Stickler, the man who defined the condition. The books concludes with the Group’s hopes and aims for the future.
68 pages 21 black and white illustrations.
Price in America $22 – dollar checks accepted.
Other countries (than the US) please e-mail wendy@stickler.org.uk for correct price BEFORE placing an order. Thank you. Again all checks made payable to Stickler Syndrome Charitable Trust and order and check sent to the address above.
PLEASE NOTE: All booklets have been written for the UK market, and therefore some of the medical procedures and testing methods may not be applicable to other countries.
NEW IDEA ??????
For two years, we have been reminding you of the website that IGIVE sponsors : http://www.Igive.com AND that it pays SIP money for your visits. We have earned $204 so far. That has been “unexpected gain” and someone proposed that we really promote that project and turn the money to a scholarship for the next conference. What we need is for a committee to form to promote the IGIVE ideas and to decide how they will decide who is the recipient. If there are no volunteers for this committee work, there will be no scholarship. So, give this some serious thought and contact Pat BEFORE you forget!!.
WE ARE HEARD!!
“Studies of medical outpatient consultations show that 86 % of diagnosis depends entirely on what the patients say, their own story. What doctors find on examination adds a further 6 %; and technical investigations (x-ray, blood test, etc) add another 8 %. ” Julian Tudor Hart citing Hampton JR, et al. Relative contributions of history-taking, physical examinations, and laboratory examination to diagnosis and management of medical outpatients. Br Med J. 1975;2:486-489. (found in “Pediatrics”)
In each “new volume” of the newsletter, we reluctantly remind each of you that SIP requests a $10 yearly donation to help support the newsletter and our mission to educate and support those who need us. Thanks to all of you for your generous giving in the past.
NOTICE!!! SAVINGS!!
One of our NEW members found this for us: Continental Airlines will give you 5% off the lowest available market fare. If you purchase 60 or more days in advance you will get an additional 5% off. That adds up to 10% off your lowest available market fare. Even if you shop around, whatever you find, take it to Continental and they will beat it. There is a five day window so you can travel for the conference between July 2-14.
Here’s what you do. Call 1-800-468-7022 and give them the following reference code: NQC25P. Then make your reservation.
A LINE TO REMEMBER!!
Whenever you’re feeling inadequate to a task set before you, remember ……
Amateurs built the ark,
Professionals built the Titanic!!!!!
MEMBER Article
We welcome guest writers. The following was submitted by Pauline Feiereisel:
“Whether the illness is Stickler’s Syndrome or another type of chronic illness, stress within the family system is likely to occur. Family stress can be predicted by life events or occurrences impacting on the family unit which produce changes that disrupt the equilibrium of the family. Understanding some basic assumptions about family stress may help families to better cope with stressors as they present themselves in the course of a chronic condition.
There are predictable points of family stress. A family may cope well with a child’s disability until it prevents the child from undertaking a life event that would normally occur. For example, entering school or joining an athletic team. Examine your own circumstances and identify points in time or events likely to be difficult.
Families vary in their level of tolerance for the family member’s physical condition. One family may deal with chronic pain by seeking appropriate assistance and taking an aggressive approach to the challenge of pain management. Others may be so saddened and despondent by watching their loved one suffer that they are unable to problem solve. What manifestation of Sticker’s Syndrome do you find most difficult to deal with? List them and brainstorm positive approaches to managing them.
Families under stress tend to hold on to previous patterns of behavior or responses to stress. Families react in a variety of ways to stressful events. Some may minimize the problem, others may react with anger, but others pull together and support each other. Identify how your family typically responds to a stressful events. Do these patterns help the family cope better or hinder the process?
Families grieve the loss of normal life after diagnosis of a disabling condition. The diagnosis of a chronic illness represents a major loss not only to the individual, but to the entire family. Examine your own feelings. encourage other family members to express their feelings, fears and concerns.
Families play a significant role in encouraging or discouraging members to participate in particular therapies or treatments. A supportive family environment accelerates the rehabilitation process. What aspects of your family life, customs and beliefs may hasten or slow the adjustment process?
Families react in different ways to illness behaviors that the affected member might display. Long term illness may result in dependence on family members. Some may become angry and unable to understand the needs of the person. Others may overcompensate and foster dependence. Identify ways to balance the two extremes. What ways do you both offer support and encourage independence.
A Family’s perception of the illness or condition has a great influence on their ability to cope. Some may view the condition as an enemy or a threat. Others see it as a challenge and some may minimize its seriousness. What is your families perception of the condition and is it realistic? How does your perception help you to cope? How does it hinder your coping skill?”
NIH STUDY UPDATE
It’s time to get some new information out about the study. The first major shift is:
- 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 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.
Joie Davis CPNP, MSN
NIH/National Human Genome Research Institute
Bldg. 10 RM 10C205
10 Center Dr
Bethesda, MD 20892-1806
Phone: 301-402-5198
FAX: 301-496-7157
Pager: 104-4994 or
1 800 644-2337 #4994
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, Email Mike personally: webmaster@cermak.com
FROM THE LIST SERVER
This is a website where you can learn “a sign a day” and learn the basics like finger spelling the alphabet and numbers. The URL is: http://dww.deafworldweb.org/asl ”
“The following are exercises prescribed by Kristin’s PT to help with arch development. Please check with your doctor before starting these just to make sure.
Roly Poly: Kristin lies on her back with a basket or bowl sitting on the floor next to her head. I hold up a beanie baby and Kristin has to use her feet to grab it and roll up into a ball to place it in the bowl…….
Stork standing: Kristin stands on one foot with the other foot lifted up like a flamingo. She then twists to the side so that the standing foot is drawn up into an arch….If she is standing on the left foot, then she would twist at the waist to her left.
With her shoes off, Kristin draws her feet up into an arch, keeping her toes and heels on the floor…..she holds her feet like this for about 5-7 seconds and then relaxes and then does it again.
Another thing that the PT has Kristin doing is tiptoeing for one minute and then walking on her heels for one minute and alternating…..”
“I want to cover all bases, but I don’t want overkill. After all the years and all the health complaints that went unanswered, it’s a weight off our shoulders to have a diagnosis and reason why our daughter had so many health problems. We just could not put our finger on why. But, now, it will allow us some closure and to move on.”
“I don’t think anyone can empathize with the fear of blindness better than someone who has the same fear. People whose sight is OK cannot begin to know the anxiety and depression living with that fear can bring. You feel your life is under a constant cloud and you just don’t feel you can get on with life and live it in anyway normally – sometimes it seems like the “sword of Damocles” hanging over you the whole time. I think its also the feeling of something being out of your control. As you may gather, I too have that fear and having lived most of my life with a mother who was at first partially sighted when I was young and then blind by the time I was in my thirties, also an uncle and aunt, and a grandparent all blind from Sticklers, well, it has long been my greatest nightmare that the same would happen to me. My mother and I looked just like two peas in a pod and when she was ill and in her seventies, I could look at her, and see myself in the some day.”
“When Pat first connected me to this wonderful group of people, I was so lonely. I refrained from talking to anybody about this. I had just learned there was a name for this collection of failing senses and joints. The fact that it was so inheritable blew my mind. I’m so much more mentally healthy today because of being able to read about what you all have written about Stickler’s. I want to thank you ALL.”
“If I had to choose to have kids knowing the risks, I’d still do it. It’s been tough, but also wonderful. we are still facing a lot of the eye problems, but we face them together, its easier than deciding on your own!”