June 2005
Coordinator Comment
Decisions, decisions, DECISIONS. Some are so small that we do not even realize we make them. Some are so big that we change our lives, with just a “yes” or “no”. I have heard that hind sight is 20/20, but I totally disagree. There are still things that I do not know HOW I should have made different, by making a different decision. I think that a good toast should be something to the effect “May none of your decision come back to haunt you.” I hope to see you in July at Disney! Remember, I am going early, so no one will be available for last minute information.
New Film on Stickler Syndrome
If you ever wished you could just do something to help people know about Stickler syndrome, now is your chance. SIP is sponsoring Kim Barwise in her project to produce a 30 minute documentary about Stickler syndrome. Donations can be made thought SIP and you can contact Kim at: k.barwise@rogers.com
Conference 2005
We will have our 9th Annual American Stickler syndrome conference in Disney World. We plan to have a one day conference and a LOT of fellowship in the parks. Our rooms will all be in the same section of Coronado Springs, July 8-10, with the meeting on Saturday. This includes free transportation to all parks, along with lower park admission. If you have last minute opportunity, please check room availability. There is a special phone number for Stickler Involved People to make your room reservation: 1-407-939-1020
The weblink for room reservations : dmeetings/global/reservations/reservation?resort=CoronadoSprings&office=Cr
Your credit card will be charged for the first night’s room, at a rate of $95 plus tax.
The tickets weblink will give you the opportunity to mail, phone or fax in your customized ticket order directly to Disney.http://www.wdwinv.com/tickets/75/Stickler.pdf is for tickets.
OTHER ESSENTIAL INFO
Late registration fees will be $60 a person. For this, you will receive Saturday breakfast, and a catered lunch.
MEET A SIP
I am a 40 yr old female who has suffered with Stickler since birth. I possess most of the classic characteristics: flat face, no nasal bridge, cleft palate, and also developed detached retinas at a very young age. I was hospitalized from birth until 2 yrs due to cleft palate and small jaw; resulting in a tracheotomy to assist in my breathing.
I am currently blind in my left eye and partially blind in my right due to detached retinas. My mother had always thought I was a clumsy kid, and my detached retinas went undetected until they had my eyes checked at 2-3 yrs and were told I had detached retinas.
There was an opportunity to save some of my sight at the tender age of 6-8 however; the optometrist, unfamiliar with Stickler Syndrome unfortunately did nothing and my eyes became worse. At the age of 10, I came home from school complaining I couldn’t see and was referred immediately to the “Hospital for Sick Kids” in Toronto; where I had an operation which sustained what sight I had at the time. I owe these folks a debt of gratitude!
It was not until I married and became pregnant that I thought about my medical history and the safe arrival of my unborn child that I consulted a doctor. It was the first time I had ever heard of this syndrome. He advised that the syndrome was so rare that I had nothing to worry about. I was not officially diagnosed with Stickler until my daughter’s health initiated a consultation with a geneticist on the medical history of our family.
I now know that I inherited Stickler from my mother (66 yrs). When I look back, I can clearly see the classic signs as well. She is also wearing 2 hearing aids and has very limited flexibility but refuses to accept that her condition is genetic and is caused by Stickler Syndrome. Her brother (63 yrs) suffers with a cleft palate and cleft lip but has never received any medical treatment for either.
I have recently been experiencing pain in my left eye and went to see an eye specialist. God must have sent him because he recently transferred to PEI. He is truly a remarkable human being, and a specialist on detached retinas and “Stickler Syndrome”. I feel very fortunate to have him in my corner; he provided me with volumes of information and a history on this syndrome and I now feel better informed to face my future. I am concerned about keeping what sight I currently have in my right eye and continue to see him every 6 months.
I chose not to have any more children as the risk is too high to pass on this gene. I will continually watch my daughter for signs of Stickler; however, most of my time is spent managing her diabetes.
I have spent a lot of time reading and researching the web on this syndrome. I enjoy reading stories on Stickler and how others cope with this syndrome. Who would have thought that “collagen” plays such an important role in our health; and at the same time cause so much suffering. I know that eventually I may have to face the ideas of going blind; but for now, I living life with my family to the fullest. I continually work on taking the best care of myself that I can, watching for signs, and keeping the ophthalmologist on my speed dial just in case.
I came across your website recently and enjoy reading the stories of other people with Stickler Syndrome. Marilyn
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
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. Send your application TODAY!
Contributions Recognized
SIP received contributions from the following since the last newsletter:
- Ron and Jaki Thorne
Video donations:
- Tim and Jan Helfer
- Ira and Ivy Messer
Connective Tissue Study Purpose: 1)investigate arthritis and musculoskeletal issues in Stickler syndrome, and closely related disorders. 2) Discover gene locations not yet known.
The newly set protocol has slots for large family groups (about 10 persons) willing to give blood and a medical history, (by phone).
If your family is interested in participating in the study or would like more information, please contact: Nazli McDonnell MD, PhD at: McDonnellNa@grc.nia.nih.gov or Delva Houston at 410-558-8494. Please when you call or email, provide an address, phone number and cell phone number so they can send information about the study and/or call about scheduling.
Each year, about 60,000 people get new glasses through the “Gift of Sight.” For more information on the “Gift of Sight,” go to www.givethegiftofsight.org or call (800) 522-LENS.
DONATIONS- Remember SIP
If you are interested in research, and feel you have the funding, we know of a project leader who would need about $100,000 to get started. The ongoing study would take less to maintain, year by year.
A lesser research project would be with one of our speakers at the Chicago conference, who is a man VERY knowledgeable about Stickler syndrome. He would like to do a study of persons who have scleral buckling versus laser treatment. .
Other projects that SIP has started are our college scholarship fund, the video project featured in the March newsletter, and a fund to help attendees to our annual conference. All of those accept any size donations.
If allowed to dream, we would love a fund to help persons with small expenses. For example, SIP got a request from a teen in Texas asking for funds to pay the semi-annual ophthalmologist visit. Her mother works, but does not have an extra $200 a year to pay this. A recent request that we did not have funds for was a facilitator for a difficult IEP. So, a special fund could be set for those situations.
Another, bigger dream we have is to invite the Stickler syndrome “experts” to meet together. We would be there to document and facilitate. But, they would share and expand and discuss all aspects of Stickler syndrome. There are many aspects to discuss and it would be invaluable to get those heads together.
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
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 :
- Life is either a daring adventure or nothing at all. Security is mostly a superstition. It does not exist in nature.
- When one door of happiness closes, another opens; but often we look so long at the closed door that we do not see the one which has been opened for us.
- The best and most beautiful things in the world cannot be seen, nor touched … but are felt in the heart.