Volume 6, Number 1 – March 2001
Coordinator Comment
I am getting VERY excited about going to Canada for the SIP conference this year. I have never been that far north and we plan to travel a bit while there. I know all the work Barb has been doing to get our speakers and all the other planning that it takes for a conference. She deserves a big THANKS and each of you deserve to join us for this great event. I hope to see you in July.
ConferenceNEWS
Barb Lockey is HARD at work making plans for the conference in Montreal. She has booked the Holiday Inn Pointe-Claire http://www.holiday-inn.com/hotels/yulpc/ for July 6-8. 2001. Start your planning now and REMEMBER that the American $ goes a lot further in Canada!!!! You will have a great vacation and learn a lot at the same time. Barb will be using a lot of resources from her experiences with getting Tyler diagnosed. The registration deadline will be June 1. See attached conference form.
SAVE SIP
If you have an email address, PLEASE send it TODAY to: cya2000@aol.com
SIP is spending over $200 a quarter for printing and postage. We estimate that over 1/2 of you have email and can receive this newsletter on line. We need your assistance with this simple task. SIP thanks you, Pat and Bill thank you and their kids will love you, because they will have less envelopes to stuff!!
Annual Solicitation
Yearly, SIP asks for each family to contribute $10, to help cover postage and printing. We send a packet of material to each new member and to many medical personnel each month and every project has a cost. If you do not feel you are getting that much value from SIP, please contact us to be removed from our list. If you know a good value, send your contribution TODAY..
INTRODUCING A SIP
My son Jeremiah (16 yr old) had surgery on his eyes twice for strabismus (as a baby), and he now has exotropia — he subconsciously alternates which eye he ‘sees’ through and the other one strays outward. Another surgery might correct it, but the success rate is only 50 %, and Jeremiah has adapted well, so we chose not to do it – at least not yet.
Jeremiah wore glasses from the time he was 6 months old until he was nine years old. In the aftermath of hurricane Andrew (at that time we lived in the area worst hit by the hurricane), he broke his glasses. The optical shop blew away in the hurricane and the optician – Jeremiah’s uncle – moved and we didn’t have the new address yet, so it wasn’t easy to get the glasses replaced. During the time before we could get another copy of his prescription and find an undamaged optical shop to get new glasses made, Jeremiah’s eyes changed and he adapted to seeing without glasses. His eyes were then worse with the new glasses than without them, so the ophthalmologist said to stop wearing glasses altogether. His eyes still stray a little, but he gone seven years now without glasses.
Jeremiah also had tendon releases in both legs – ankles, knees and hips -with a partial obdurator neurectomy at age 5. It took two surgeons eight and a half hours to do the surgery. The week before his surgery, I took care of a 40-year-old man (I am an RN) who had the same surgery as a young child. This man was left permanently frog-legged and his legs literally shriveled up. I was scared to death that we had made the wrong decision. I would have felt totally responsible if the surgery had not gone well. At the time, Jeremiah was in a preschool for disabled children and every child in his class had similar surgery that year. He asked me how old I was when I had my leg surgery. When I told him I had never had leg surgery, he exclaimed in astonishment “But mommy, how did you every learn to walk if you didn’t have surgery!!”
Fortunately, Jeremiah got a far better result than the surgeon expected, and he has been able to walk independently for short distances ever since the surgery. By 5th grade, the leg braces broke so often the orthopedic surgeon decided he must not need them anymore. Jeremiah still needs a wheelchair some of the time, but he is doing very well. He has a part-time job at a theme park and is a better worker than any of the other teens while still maintaining good grades in school.
Jill Brown (mother of Jason and Jeremiah)
SIP Directory
A year ago, about 30 of you chose to send data to Beth. That information is now ready for distribution within our group. If you have email, contact sip@sticklers.org We will forward a LONG email. If you do not have email, send $5 to SIP, at the above address.
Thanks, Beth, for a great job!
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.
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
Excitement in the Air
Dr Stickler found clinics that he feels will work with Stickler syndrome patients. His research located clinics in New York City, WInston-Salem, Minneapolis, San Diego, Toronto, Ont, Omaha, Rochester and several doctor in Boston (but not a clinic). If you need further information or if you know of a group for him to check out, please email sip@sticklers.org
FROM THE LIST SERVER
“You reminded me of the first time my son had a shot, without four people holding him down (and he was 7). He looked at me and said, “it hurts less, if you do not panic.” I always think that might apply to other parts of life, also.”
“I often thought (and still sometimes do, in times of depression and self-criticism) that I too am very lazy and just don’t want to do the work that needs doing. However, having read from all of you about fatigue and how hard it is for all of us to do the most basic of chores really makes me feel like I’m okay! Thanks”.
“I told a new doctor that I had a hereditary genetic connective tissue disorder, instead of throwing the term Stickler syndrome at him. He was much more receptive, I suppose cuz he umderstood and was not intimidated by something he had never heard of. Instead of going on the defensive, he was concerned and helpful and incorporated the info in to his diagnosis. Later in the conversation I told him what this particular connective tissue disorder was called. You may want to try it with your new docs and see if it works.”
“Life by the yard is hard; life by the inch is a cinch.” Source is a GREAT philosopher on the list server.
PRESS RELEASE
Sip received an announcement of a new government website to promote employment of adults with disabilities. It is www.disAbility.gov and features include “for job seekers”, “for employers”, “for families”, “for media” and “for you”. Check it out.
OTHER WEBSITES
Bill found this website and it lets you interact and have a visual of your eye problem to hand a doctor. He loved that: http://www.surgicaleyes.com/eyechart/eyechart.htm
Here are two other sources with an excellent genetics glossary:
The Nat. Human Genome Research Institute has their own “talking” version web at: http://www.nhgri.nih.gov/DIR/VIP/Glossary/index.html and Gene Sage publishes excellent genetics articles online and they do have a glossary in some of their articles. You can also email the editors with any terms you’d like defined: www.genesage.com
The Kanter Family Foundation
A new Web site at www.healthlegacy.org
This site explains how a database would be an easy-to use-tool to help patients and health-care providers determine which treatments work best for specific diseases and conditions.
www.icanonline.net is another recommendation of a member.
RESOURCES
All of the other Stickler groups in the world are referenced on http://stickler.org/ This is Stickler Involved People’s official website. It has valuable references to other websites and contains back copies of newsletters.
Dealing with Pain
“Although I long ago shifted some of the Super Mom tasks to my hubby, I still take on as much as I think I reasonably can. The hard part is that the Super Mom plans are usually made early in the day, when the pain meds are most effective and activity hasn’t yet challenged their effectiveness. I never know when I’ll really be able to handle it and when I won’t, so I tend to assume I’ll be OK. (I find that wishful thinking gets me a lot further most days than always assuming the worst.) Plus, I’ve learned the benefits of distraction and ignoring pain as a valuable part of my pain management program.
The downside of this is that the pain can then rise to an intolerable level that even distraction and ignoring the problem can’t avoid before I am really aware that it is building beyond the usual level. I ask for help when I can, but it’s not always easy for others to alter their plans at the last minute when I suddenly realize that my pain is out of control. When that happens, I just push on and try to do better next time at estimating what I can and cannot do, realizing that the cost of pushing on is that the next day or two I’ll have to cut way back on my activity and temporarily increase my meds.”
JUNE 8-10, 2001: PEOPLE’S GENOME CELEBRATION WEEKEND:
www.geneticalliance.org