Volume 5, Number 4 – December 2000
Coordinator Comment
I wish you the best of Holiday seasons and suggest that each of us give ourselves a BIG HUG and try to slow down to enjoy life. We all seem to be pushed and pulled at this time of year. Give yourself a moment. With that thought in mind, also give SIP a moment and send your e-mail address to: cya2000@aol.com (See accompanying article on page#3)
NEW IDEA ??????
With Christmas coming, think of persons you NEVER can find the right gift for. Send SIP a donation for the scholarship fund, in their honor. Also, order Christmas presents through Igive.com
We do have some volunteers to start the conference scholarship project. Remember to use this website for all your on-line buys: IGIVE: http://www.Igive.com AND that it pays SIP money. So far, IGIVE has sent over $300 to SIP!!
If you don’t already know about Medline Plus, check it out: http://medlineplus.gov It’s a great source of health information for patients and others.
NEWS FOR 2001
Barb Lockey is HARD at work making plans for the conference in Montreal. She has booked the Holiday Inn Pointe-Claire 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.
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
Also, Nancy hopes to put out a new edition when she gets enough ideas. So, send your hints for a future publication.
INTRODUCING A SIP
My name is Patty and I never knew that I had Sticklers until my youngest child was diagnosed with a severe case of it. It was at this time that my oldest son and I were also diagnosed with just mild cases of it. My youngest child was 3 years old, and weighed only 36 pounds and would not eat for me. I had been taking him to doctors around the area where I live for two years and was being told that he was just going through a stage and he would eventually eat. They did all kinds of tests on him because I kept insisting that something was wrong, but unfortunately they knew nothing about sticklers and he was not diagnosed.
They didn’t diagnose anything wrong with him but I refused to give up. I knew there was something wrong with my child. At age 3 I couldn’t stand to see what was happening with my son and decided the doctors in New Hampshire weren’t going to help me so I took my son to Boston Childrens Hospital.
At first my son was seen by a doctor for his stomach since he wouldn’t eat I thought that was where the problem was. We were with the doctor for less then 10 minutes when the doctor told me that my son had a cleft palate (soft) and that was the reason he could not eat properly. He also told me that my son needed to be seen by a genetic specialist because even though he didn’t know what was wrong with my son, he knew what he had was not very common (this was in 1992). No other doctor had even found the cleft palate in 3 years and my son had a good size hole in his mouth which by this time we had to wait until he was 5 years old to repair which led to feeding problems even today at the age of 11.
My son was seen and was diagnosed with Sticklers in just a few hours. He had many severe symptoms such as extreme myopia ( never detected until now), cleft palate, mild to moderate hearing loss, and abnormalities throughout the entire body including facial features, bones, fingers and toes. My son has learning disabilities and even though he is in a normal classroom structure he has an aid one on one in school with him and he gets special education. He is in the fifth grade and is doing second and third grade work and I sometimes wonder if it was detected earlier if he would be further ahead.
I have had to fight since he was born to get him the help he needs and the special education because sticklers syndrome is not known. He has been in schools since he was 3 years old. Even after all that we go through in everyday life dealing with Sticklers I am the luckiest mom in the world. My son is a happy child and with all the fighting I have had to do to get my son the care that he needs I feel that he is a gift to me and that God chose me to care for this special boy because God knew I was capable of giving this child so much love. No matter how many times he has had to repeat himself over and over because no one could understand him, or how long it took him to learn to read or write, or how hard it is for him to just keep up with the other kids and sometimes to have to sit and just watch because he is either to sore or to tired to continue, he never gave up and neither will I.
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!!
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, please email sip@sticklers.org
FROM THE LIST SERVER
“Nothing changed once we got the SS diagnosis but it helped me to be aware of how and why she has what she does and to be on the look out for future changes. I was also surprised that having the SS attached to her has opening some doors for referrals to specialists and within the school community. School knows very little about SS and go along with a lot of what I want because I sound so knowledgeable.(Thanks in part to this Listserver)”
“For the last couple of months, brushing my teeth caused me a lot of wrist pain. I talked to my dentist, who suggested an electric toothbrush. He recommended the lightest weight one available. It costs about $50 and I love it! My husband does too (you can buy extra heads, so everyone in the family can use it). It really gets my teeth clean, and it does all the work. All you have to do is hold it for a few seconds on each tooth.”
PGD
At the Seattle conference, Dr Stickler asked the genetic counselor about this issue and then determined to find out more. Here is some of the infomation: “Preimplantation genetic diagnosis (PGD) is the diagnosis of genetic disease before the pregnancy has started by testing the embryos before they enter the uterus (womb). Embryos are obtained by combining eggs and sperm in the laboratory (In vitro fertilization). From each embryo, one or two cells are removed and tested. If the embryo is judged to be free of the disease it can be transferred to the uterus and hopefully develop into a healthy baby.”
“Please note that in a population of Stickler patients who might be candidates for PGD (those carrying the same specific mutation) it would be possible to develop a PCR test if this mutation and the surrounding DNA sequence are known. This would likely require a well defined family history of the disease. This process would require some months of work and could be expensive.”
You may write to: The Director
Preimplantation Genetic Diagnosis Program
Charlton 3A, Mayo Clinic
Rochester, MN 55905
Appreciated Letter
“Keep up the good work. All of us who either have Sticklers or who knows and loves someone with Sticklers need you and others like you in our lives in whatever way you
want to be. Again THANK YOU !!!!!!!”
Ideas Shared by Shannon
www.ForThoseinPain.org
If you are putting together your Christmas list, or you need something to help you out right now, try these sites:
www.dynamic-living.com
www.ncmedical.com
www.maxiaids.com
www.aidsforarthritis.com
www.maddak.com
www.assis-tech.com
www.adaptivemall.com
www.abledata.com/text2/search.htm
GOOD NEWS
We are proud to tell you that every month for over a year, there has been an article by Michael Cermak Jr. in a national childrens magazine “ContactKids”. The following is this month’s copy:
www.cermaktech.com/pics/ContactKidsDec2000.jpg
Mike is the Stickler Involved People official Webmaster, among his other accomplishments!!!
“It’s a real difficult position I (we) have: not “handicapped-looking enough” to be accepted as handicapped, and not “normal enough” to live a “normal life.”