Volume 3, Number 8 – December 1999
Last autumn, I wrote about planting mums and got an e-mail from Australia saying I was so funny. MUMS are mothers there. It made me more aware of our SMALL world and how we can affect each other, even through innocence. Our VERY best wishes go to you and yours in this turn of the Millenium.
“50% of the time, when individuals are evaluated in Genetics clinics, we don’t come up with a specific diagnosis, or basis for the cause. Many of the cases evaluated have a condition that is unique to that individual. We comment among ourselves that if a professional is diagnosing genetic conditions at a higher rate than that, they are misdiagnosing. As the Human Genome project completes its mission in 2003, all the genes will be identified, and maybe then we can do better jobs at diagnosing when we know what gene caused the problem. Even then, an alteration in the DNA that causes a disorder or condition can happen only once in that individual without ever seeing it again.”
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/
SIP would like to feature a person or family in each issue of the newsletter. We can only do this with your help. If you are willing to submit an article about you, what you do, and how you do it, please send it today. We know there are artists, computer experts, educators, chemists, poets, musicians, engineers, authors, doctors, clerks, educators, and MANY more in our group (even a dancer or two.) We know there are people with many limitations who are working, learning, and are “success stories” for Stickler syndrome. PLEASE share you with us. If you are too modest for yourself, share another Stickler involved person with us.
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: firstname.lastname@example.org
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 at
5801 Newtown Ave.
Philadelphia. Pa. 19120
“Living with an illness like this will give you incalculable strength of character and soul if you can face it and grow above it.” a member
The Stickler Syndrome Support Group and Stickler Involved People completed a survey of members in November, 1998. At the Denver Conference, Dr. Stickler presented the results of this study. He has now formulated our study into a 13 page detailed report and has presented the findings entitled “Manifestations of the Stickler Syndrome”, to the NIH and to the SSSG conference in Cambridge, England on November 27. Copies of this HISTORY MAKING report will be mailed to the current member database shortly, if you have not already gotten it. Those of you who responded to the original survey can be proud.
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
This Stickler syndrome conference in July in Seattle 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 (see accompanying article titled “Recommendation” or website: 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 and a report on the progress of the NIH study will be presented.
The dates are July 7, 8, and 9, 2000 and we will be meeting in the SEATTLE area. Mark your calendar and plan your vacation around these dates.
Again, we will meet informally on Friday night and the conference will end noontime on Sunday.
“A few years ago my wife and I had the opportunity to listen to James May speak at the JRA convention in Kansas City. The topic, on the “Two Year Old Terrorist”, was tremendous. Up to that point, I put life on hold until we found a cure for our daughter’s Stickler Syndrome. During his lecture, I learned how wrong that was, and how this was cheating our family of a fulfilling life. From his lecture I learned to acknowledge the illness, deal with it and then get on with life. I can’t imagine what our family would have lost had we not heard this lecture. Please see if James May will come to a Stickler conference.” -A Stickler father
From the Denver Conference
A question was asked on the list server as the “value” of going to a Stickler syndrome conference. Some one asked if there was a benefit to taking children. One mother answered “It was my son’s first conference. I was not sure how he would do, we are in the middle of some behavioral issues, as well. I was worried about his behavior and if he would have a good time.
I was pleasantly surprised. Thanks to kids his age and others, he had a wonderful time and cried when we had to leave. It was so good for him to meet other kids with SS, he doesn’t feel alone. He has even mentioned some Stickler syndrome issues to me since we have been home, he never talked about it before.”
What we have done
SIP and its website are now listed on the Craniofacial website: www.cleftnotes.org
Pat Houchin attended the “wrap-up” session for the Great Plains Genetic Services Network consumer committee, a regional section of corn. Unfortunately, congress has chosen to discontinue funding for this group.
The National Health Information Center has included SIP in its reference listings. www.health.org
“One thing that I would like to share is that L-Carnitine is the medicine that the geneticist prescribed for muscle weakness. I have seen such a change in my daughter. It is some sort of amino acid that we have in our bodies naturally, but some kids have a deficiency. There is some kind of different carnitine (like D-Carnitine or something) sold in health food stores. The pharmacist that filled our prescription said it is definitely not the same thing.”
“I went to a large university, which has an Audiology and Speech Center that trains Audiologist to test hearing, fit hearing aids and fix
aids. If you need a new hearing aid and your insurance does not cover for aids, this is a place to
consider. All students are supervised by Professors of Audiology and the cost of hearing aids are about half what you might what you would pay for one if you went to a hearing aid dealer. ”
My daughter is nine and is in a wheelchair on a part time bases. She is in pain 24 hour a day. We tried magnets. She wears them a large part of the day and sleeps with them on her knees at night and it has made a big change in her pain. She deals with it ten times better than she ever has. We have tried everything to help her with her pain and right now this seems to work the best! I do not even have to tell her to put them on she does it by herself. ”
NIH STUDY INFO
The National Human Genome Research Institute (NHGRI) at NIH is conducting research on Connective Tissue Disorders. This research effort is led by Clair Francomano MD, as the principal investigator, collaborating with Doug
Wilkin Ph.D., and many others. It is an on going study during which we hope to evaluate participants yearly for an unspecified period of time.
Goals of the project are to 1) study Stickler Syndrome over time, so we will understand the progression of the disorder 2) identify the genes causing the disorder in each family 3) to develop diagnostic criteria by which other
physicians can be guided in making the diagnosis of Stickler Syndrome, 4) to compare a person’s gene alteration with his/her clinical findings and see if other people with the same gene change have the same clinical findings.
There are several components to this project, the largest of which is the extensive clinical evaluation done at the Clinical Center (CC) at NIH. Stickler Involved People and their at risk family members may undergo a 3-4 day out patient evaluation. This evaluation includes skeletal survey (full body xray), ECHO (ultrasound of the heart), Audiology, Blood for DNA, Evaluations by ENT, Rehabilitation Medicine, Speech, Eye, and Genetic specialists. More evaluations might be scheduled depending on our initial history and physical. NIH assumes the cost of flying study participants to and from NIH, along with lodging and a modest food allowance. Understandably, this is a chunk of time for participants to take out of their school & work schedules. Hence, everyone’s request to come in the summer. These requests will be honored to the extent of physician availability. Every effort is made to make the days at NIH as few as possible, but appointments are limited to the availability of the specialists.
Steps involved with participating in this study are:
- Initial inquiry
- Clinical information obtained, usually by filling out Joie’s questionnaire
- Consent for release of information forms are generated, mailed to applicant to sign and forward to the medical provider.
- Medical records dribble in
- Clinical evaluation dates are scheduled after the pertinent medical records are ALL in
- Travel agency at NIH is notified (Agency will not call you until week before)
- Reservations for lodging is made
- Specific appointments for the 3-4 days are made
- Appointment schedule, consents, travel info. mailed to the family (will not come until week before eval dates)
- Clinic visit
- The other way individuals / families can participate is through our off site mechanism. We collect medical records on affected individuals, and then send out a test kit for blood sample collection.
- Individuals interested in participating in this study may contact Joie by e-mail (Joie_Davis@nih.gov).
- or phone (301-435-2910) Email is preferable
Joie Davis CPNP, MSN
NIH/National Human Genome Research Institute BLDG. 10 RM 9C440 MSC 1806
10 Center Dr Bethesda, MD 20892-1806 FAX: 301-480-9026
Plan now to attend our 2000 conference in Seattle JULY 7, 8, and 9
All of the other Stickler groups in the world are referenced on http://stickler.org/
Another Email address we want you to be aware of is http://www.Igive.com This is an advertising website that has paid SIP $160 this year for your sign-ons. Try it for Christmas presents!!!!!
A website recommended for persons in pain is www.fedupfeds.org/pain.htm It
is a site with articles and info about pain. The news group is on that page and is news:alt.support.chronic-pain. “It does not have a mediator so don’t give your real name and beware of spam.” says a participant.
“I found a great site for you all with Fibromyalgia pain…. www.fibrohugs.com”
www.504idea.org/html/504resources.html is a website that contains the “rules and regs” for the law that protects those with disabilities.
http://www.alda.org is a site giving late- deafened adults a place to be themselves and share their experiences with their “family” of other late-deafened individuals. ALDA is committed to providing educational
information, advocacy, role models, and support to and for the late-deafened.
GREAT Christmas GIFT
Melissa Ratchford is 17 years old and just had her first book of poetry published. The book is called “Poetry From The Soul”. The poems were written from life experiences, good and bad, as a person living with Stickler Syndrome. Mel has vision, hearing and joint involvement with Sticklers and has the Stickler Syndrome look. She was teased a lot at school. She felt like she had no one to talk to, so would write until she felt better about whatever was bothering her. It helped to heal her and can help you.
The books cost $5.00 American. One dollar from every book sold to SIP members will be given to the Canadian branch of SIP. If you are interested write her:
14 Wade Street
Kentville, N.S.B4N 1B6 or e-mail : email@example.com
Small Group Meeting
If you are interested in PLANNING a local group meeting for persons in your area, Let Pat know and she can extend an invitation to ALL persons in your state or area.
SIP is currently putting together a directory of people with Sticklers syndrome and related diagnoses. This directory will include information for those people who are willing to be contacted by others with Stickler syndrome. 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: firstname.lastname@example.org
Stickler Involved People never endorses any product or medicine. But if anyone would like more information on magnets, please call, e-mail, or write :Diane Holland, 85 W Dayton Hill Rd, Wallingford, CT 06492 203-265-7817 Her E-mail address is email@example.com ” I will be more than happy to follow up with the info. If I can help one person, then I have made a difference.”
Stickler LIVING BOOK
We are working on a project to help our budget. It is a booklet written by members of SIP. It will be a living document, in that it will grow as members send in their story and it is a document on living with Stickler syndrome. This is fund raising project.
Melissa Ratchford is editor and has worked VERY hard on this project…. MANY hours and we owe her many thanks. The booklets are now available by mailing $6.50 to SIP, 15 Angelina, Augusta ,Ks 67010
” I did find the web site and it was a great day to find y’all. The next day, my six-month-old had the first operation to repair her cleft palate. I was happy to feel like we weren’t alone.”
“Once again, very nice job on the conference. My son is saving money for the
Seattle trip. He is positive we are going, no matter what.”
“It is simply amazing to know that there are others like me (w/ SS and Pierre Robin) and I had never imagined that there was a whole community out there that who UNDERSTANDS ! I seriously mean that this is like waking up and finding a gold mine at your backdoor. ”
“Where were all of you when I was younger? It really is a relief to finally BELONG. I will keep all of you and your families in my prayers. And once again… Thank You!!”
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.
Another Great Idea
“Encourage people having difficulty in obtaining services to take someone with them from local agencies that serve kids with special needs to their IEP meetings. ” Each state has a federally mandated advocate groups to work as a support to families with disabilities. Check “State Organizations”, in your local or state capital phone books.
SIP still has a nurse interested in an informal study of the labor strips, (fetal monitoring strips), so if you have access or are interested, contact Pat. She will be looking for any common characteristics that the strips might show.
Any one who might be having joint
surgery, the NIH would like to make the plans IN ADVANCE with the hospital for tissue samples. These are of GREAT value in the study of Stickler syndrome and are of no further use to you. So, contact Joie at firstname.lastname@example.org as soon as you have a date scheduled. The NIH has even accepted eyes that have had to be removed, for medical reasons.,
Shannon in CA just completed a seminar on Pain Management that was really interesting. Some of the information may be useful for inclusion in the newsletter; after we get permission. There are some great self interview questions about using pain meds and evaluating how best to deal with chronic pain. Look for a local presentation in your area or contact Shannon at: DavCat14@aol.com
For information and hints to apply for SSI, you can contact Marge Owen at email@example.com and / or call Suzy Caine at 703-549-1342. Both persons have successfully “gone through the system” and are willing to share. Ladies: Thanks for volunteering
A BIT OF HUMOR
Before you criticize somebody you do not like, walk a mile in his shoes.
That way, you’ll be a mile away. And you’ll have his shoes!
PubMed, or Medline, is a listing of 10 million documents, in database abstract form, that’s available for free over the Internet. To get there, access http://www.ncbi.nlm.nih.gov then go to “databases” then choose PubMed / Medline. This website is very fast.