Volume 3, Number 6 – June 1999
Coordinator Comment
This space is cheerfully (and gratefully) yielded to the NIH. Hope to see you in Denver!!!!!
NIH STUDY UPDATE
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’ requests 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
Phone: 301-435-2910
NIH/National Human Genome Research Institute BLDG. 10 RM 9C440 MSC 1806
10 Center Dr Bethesda, MD 20892-1806 FAX: 301-480-9026
EMAIL: (Joie_Davis@nih.gov).
REMEMBER
DENVER COLORADO is the place to be for the 1999 Stickler Conference. Rick, Randy and Sheri Bishop will be hosting us. June 11-13, 1999, at the Marriott TechCenter. The hotel’s reservation deadline was May 13. If you have had a sudden ability to join us, contact the hotel for room availability and CALL 316 – 775-2993 IMMEDIATELY. Registration fee is $40 after the May 13 deadline.
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
What we have done
NICU INK, a publishing company, is using our information as a resource for craniofacial disorders.
The 1999 Conference will soon be a GREAT memory and BIG plans are underway for 2000 in the Seattle area. Start saving NOW!!
The questionnaires have been compiled and that report will be available as soon as a decision on format is made.
We are in the second year of the NIH study on Stickler syndrome. Please consider joining this study!
Plans are underway for a Coalition of Connective Tissue Disorder conference in 2000. Watch for details.
More and more, professionals in the medical field are making inquiries to Stickler Involved People, which means that they are seeking current information AND recognizing Stickler syndrome as a valid diagnosis.
Each newsletter is now on the website. So, if you have access and do not need this “hard copy” mailed to you, e-mail houch@southwind.net
Plan now to join us in 2000 in WASHINGTON STATE in JULY for the FOURTH annual Stickler Involved People conference.
HINTS from LIST SERVER
Our insurance clearly states that Durable Medical Equipment i.e.. glasses, hearing aids,
canes, etc. are NOT covered. One day I was doing some research on the Internet and discovered that some states have passed laws that if a hearing loss is congenital, it must be covered by the insurance company regardless of the “durable medical equipment exclusion clause”. I called our insurance benefits department and asked if they have any type of waiver if the hearing loss was congenital. They looked it up in their policy “bible” and YES!!!! Our daughter’s aids would be covered as long as the diagnosis was “congenital hearing loss”. So the insurance company is paying 80%.
I then called our coordinator through our counties Early Intervention Services
where she receives her speech therapy. They have agreed to pay the remaining 20%.
A national disabilities clearing house is The National Information Center for Children and Youth with Disabilities or NICHCY. They have inexpensive and free literature about many things including the laws and your rights. They also have listings of resources by states. Their address etc:
NICHCY, PO Box 1492, Washington, DC 20013-1492
phone – 1-800-695-0285 or 202-884-8200
WebPage – www.nichcy.org
Stickler’s syndrome would not be the disability on an IEP. Stickler’s is a diagnosis. The disability on an IEP is what impacts your child’s ability to learn, namely visual impairment, ADD, LD, physical disability, hearing impairment, etc. However, each IEP has a section that describes Current Levels of Performance (it may be called something else). This is a descriptive statement that should discuss each child’s strengths and needs. Here is where the diagnosis of Stickler’s should go, even if it is mentioned under disability in your state. Here you can explain implications. You can also attach an addendum to the IEP with literature or something you write about Stickler’s and your child. Every parent is an EQUAL team member in the IEP process. You have the right to include this information in your child’s IEP. Don’t let the school district try to tell you otherwise. Arm yourself with knowledge, trust what your heart and mind tells you and stick by your beliefs. Don’t let anyone try to tell you that they know your child better than you.
GREAT GIFT FOR YOU
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:
Melissa Ratchford
14 Wade Street
Kentville, N.S.B4N 1B6 or e-mail : rtchford@glinx.com
RESOURCES
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
IGIVE
This is an advertising website that pays Not-for- profit organizations for your sign-ons. SIP is listed, and you have to register us for us to get paid. So far, we have earned $98.43 from having enrolled members with them.
Try it and see if we can add funds to SIP. There is a place on that website to buy books, gifts, toys, and many other things, and 5-20% will be donated to SIP.
SIP THANKS YOU!!
HINTS from LIST SERVER
Many people recently confirmed that their child (or they) has good hearing days and bad – 녘many things (I believe) come into play here. Fluid, infection, swelling due to allergies, etc., pressure….. Also, good and bad vision days – especially due to glaucoma – also the weather figures into vision……I believe it is the barometric pressure affecting the glaucoma…. I know it sounds odd, but that’s what the specialists say…..and that explains why we has some good and some bad days and it varies….녘
DO YOU WANT US?
There are mailing lists that we all could name that just keep sending us things that just get thrown away. If this newsletter is one of those for you, or if you want to be taken off the SIP contact list, write to the News- letter address: 15 Angelina; Augusta, Ks 67010.
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 will be a fund raising project for SIP.
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
Appreciated Letter
“We just finished reading the “Stickler Living Book ” It had quite an impact on us all _ a wonderful book! If possible, I would appreciate having another copy.”
INTERNET STUFF
http://dietary-supplements.info.nih.gov is a website from the NIH, concerning dietary supplements and their safety.
Nystagmus is an unintentional jittery movement of the eyes. For more information on eye conditions and diseases, visit http://www.eyenet.org
www.centerwatch.com is a website for clinical trial information. The web page for someone that may be interested in a cancer treatment clinical trials is www.cancertrials.nci.nih.gov
Your education rights under U.S. law can be found at: http://www.ldonline.org
http://www.wrightslaw.com http://www.edlaw.net
http://www.nwkec.com Northwest Kansas Eye Clinic and has a lot of information on retinal
detachments, glaucoma, cataracts, hemorrhage!
Robert Naseef (a 1998 conference speaker) has become a columnist for Special Children magazine. You can read his answers to questions about the mental health issues facing a child with a physical disability and about the concerns of parents for their adult children with disabilities. To check out the magazine, go to the family issues section at: http://www.specialchild.com
If you or people you know have questions you want him to address in this forum, please write to him at Ask The Expert@specialchild.com
HELPFUL HINTS BOOK
Nancy Barry has worked so hard to collect the ideas in this book and hopes to have them to distribute for the conference. 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
DIRECTORY
Beth Johnston has volunteered to make a Stickler Involved People directory, for SIP use only. We will be very selective in its distribution, but many people want to be “in touch” with those who understand. If you want to be listed, mail names and ages (with symptoms) to:
31 Timber Lane, Marstons Mills, MA 02536 or you can e-mail her: bethj@capecod.net
We can exclude last names or addresses, if you want.
“In the middle of every difficulty lies OPPORTUNITY” -Albert Einstein
GREAT THOUGHTS!!!!!!!!
One of our members submitted this as “Things to understand” about genetic health:
- The person with the genetic defect did not do anything to earn it and did not choose it so we must not exclude them from health care coverage.
- Many genetic defects are not life threatening but they take away from the quality of life for the victim and sometimes their families. Proper health care can give back some of the qualities to unfortunate economic families.
- Genetics is a big puzzle right now and only dedicated research will allow us to connect all the pieces together and provide solutions.
- In the long run, health care will benefit from genetic research by allowing us to prevent genetic defects before birth.
- If we don’t pay attention to genetic research now, the world population will develop more and more genetic deficiencies with each generation.
- A child is an innocent creature who can not help themselves in our complicated world. Every American needs to contribute and protect handicapped children’s rights and provide any hope to overcome their handicap. Genetic research is this HOPE.
- Genetic research contributes to our economy and our livelihoods. More jobs and more cures.
- I would rather allow a genetic handicap have health care benefits than those who get benefits for smoking, drugs and other self inflicting hazards!
- Spend more on genetic research and less on meaningless projects.
- Thank God for ADA. Now lets get to the root of the problem America. Let’s buckle down and research solutions.