September 2004
Coordinator Comment
Yesterday, we left our daughter at college 3 hours away. I am doing better than I thought I would, thanks to the counselor who spoke in Chicago. She said that our fears, as parents, are often projected on to the disability. I am working at stopping this and on realizing that I will miss Kate.
Change is tough for all of us, but it may be more important for those of us dealing with disability. Things remaining the same means that we did not lose any ability.
Igive.com
Special thanks to all of you who spread the word about this fund raiser. Your results are obvious in the give.com check to SIP.. Keep up the good work. The size of our next check from iGive is all up to you! These funds are used for aide to persons who could not otherwise attend our conferences. Many causes rely on their supporters to spread the word. If you don’t tell your friends about this easy and free way to help, who will? Each new iGive.com shopper means an extra $5 donation for Stickler Involved People. That’s on top of money raised by ongoing purchases at iGive.com. There is no added fee for the purchaser. Just send your friends this link, http://www.iGive.com/html/refer.cfm?causeid=168
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 the hotel, with free transportation to all parks, for a rate of only $95 a night, along with lower park admission. Each family will call a special number and plan their special time. We will stay at Coronado Springs, July 7-11, with the meeting on Saturday. Disney will provide a detailed brochure, which will be mailed to you in March. NOW is the time to talk to family and friends. They also can have the lower rates!
Scholarship News
The winner of this year’s Gunnar B Stickler Scholarship is Lindsay DeMara. She was adopted at 3 months and was diagnosed with Sticklers when she was 4. Retina, joints and now heart issues are very much a part of Lindsay’s life. She is from a family of 8 adopted children, 5 with special needs. Lindsay is attending the University of Wisconsin majoring in communicative disorders. She want to be able to help a sister, who is her biggest motivation to succeed.
Conference 2004
Marcia Phillips, RN, DNSc, OVERVIEW
Stickler syndrome is a common autosominal dominant connective tissue disorder affecting bones, heart, eyes and ears. Dr Stickler’s first paper recognized the retinal detachment and joint hypermobility and the second paper added vertebral changes, flat cheeks and nose, cleft palate and hearing loss. 1/3 of persons with SS have Pierre Robin sequence. The SS phenotype (what you see) varies family to family and from person to person. It is noted to be as common as 1 in 10,000, but realistically 1 in 7500. Diagnosis is difficult due to phenotype variability. It is the most common AD connective tissue dysplasia in North American an Europe. It can be inherited (72%) or spontaneous (28%). Clinical based diagnosis is most frequent.
3 types of SS are Type I, COL2A1, Type 2, COL11A1, and Type 3, COL11A2, (for which there is only research based testing). Type 2 has more hearing loss and Type 3 less visual problems. 89% of persons with SS have joint problems and early onset arthritis is normal with joint replacement common at 30-40 years old. Prenatal ultrasound can detect cleft palate at 19-20 weeks, but its absence does not exclude SS.
Donna Turetgen, Audiologist
Sound is transmitted through the ear canal, then the ear drum to 3 small bones and liquid in the inner ear, to audio nerves and then to the brain. Any disruption causes hearing loss.
Hearing tests can be done from birth, and because of medical history, family history or speech delay. Testing methods change with age. Results used to be presented in %, but now in degrees of mild, moderate, severe and profound. Treatments may include medications (for infections), hearing aids (as early as 3 months), cochlear implants (early as 12 months), amplified phones, classroom FM devices. Untreated conductive hearing loss can cause senseroneural hearing loss. Collagen is in the cochlea or the eardrum may be hyper mobile. Even mild hearing loss can affect school performance, academic progress, and/or psychosocial well being. It is never too early to have a hearing test and adults should be tested every 1-2 years.
(Dr Ruth Liberfarb, NIH/NIA studyNOTES Cont)
The study was moved from the NIH Genetics to the NIA/NIH. The emphasis is now “Musculskeletal Disorders Associated with Stickler Syndrome.” Dr Lena Ala-Kokko joined the study and all samples are now at Tulane. Osteoarthritis is prevalent in 60% of those studied, with 75% of them complaining of severe pain daily. The penetrance of Stickler syndrome is 100%: If a person has the mutation, that person has symptoms, no matter how mild. The study has, so far, determined that Type I has a membranous vitreous, Type II has a beaded vitreous, Type III is non-ocular, mainly orafacial, and Type IV has unknown facial features, with vitreous degeneration.
There are 200 people on the NIH database. 93 were seen at the NIH, ½ of the families are from SIP. 25 people, in 6 families, were molecularly proved to have the COL2A1 mutation, called Group A. 47 patients in 25 families were clinically diagnosed with unknown mutation(s), called Group B. 18 patients from 7 families were clinically excluded. Cataracts have been proven to increase with age. By age group 41-50, 100% of persons in Group A had cataracts and a retina detachment.
The NIA study will be limited to persons 12 and older,. They will take medical records, blood and DNA. Unaffected relatives can give blood, to help with linkage studies. The study will review medical records, the ophthalmology reports from the attending, do x-rays for knees and ankles, do a bone and joint assessment, do urine and blood work, and clinical photography. A cognitive test will be given to prove ability to consent. (See page 6 of this issue)
Dr. Gunnar Stickler
Never ask a physician to predict the future, but 100% of persons over 79, in our study, have had hip replacements. Snead study is the largest. We should only listen to evidence based medicine. All studies are listed at the Cochrane Library website http://www.cochrane.de/cochrane/revabstr/mainindex.htm
There are no medical cures for structural anomalies. Surgery improves the eye, hip, knee, etc. (Prophylactic surgery has not have a study done, because no one would volunteer to not have the NOTES Cont) NOTES Cont) preventative. In England, they do more prophylactic. Prepare for any surgery, in advance, with any help, like grab-its, hospital bed. Stickler patients have great strengths – Be positive about outcomes.
Dr. Ginny Wright, Clinical Psychologist
Some adults speak with disrespect or with dismay, when referring to teens. They jump into “what is wrong” rather that what is normal. She presented a chart of normals, at varying stages of teens. They have intense friendships, love and hate. As adults of a chronic child, we may assume their disability is the cause of slights. But, it is normal.
It is exhausting to hear “you do not understand.” To the teen, it means we do not get it. To the adult, it means you do not agree. Adolescence, thru 9th grade is most difficult, even for “normal” families. With chronic illness, the body image concerns magnify, along with concerns that medicine or treatments will make teens MORE different. Be open to them talking about it. Do not say “it will be OK”. That shuts down communications. Say “what hap-pened that makes you say that?” “I bet you did not even know your felt that way.” “I had not thought about that, but you have a point.” Some chronically ill persons are afraid of independence. We must foster independence, in limits of safety. Gone are the days of secrets or “white lies.” Face the truth together.
Emotions are contagious. Talk with honesty and facts. It is hard to say “I do not know.” Relationships with peers is a chronic problems, especially if the teen is away from school often. Prepare the teen for anything, by using a sense of humor. Listen to how they describe siblings, as it will give you an idea of what they think of themselves.
This is a FAST growth period, second only to infancy. We are just not as awed. Studies have shown that chronically ill children have a greater self-confidence, a better relationship with parents and better verbal communication skills. The same child is more isolated, more aware of feeling abandoned or stigmatized, fears dying, dependency , loss of control and expressing anger.
Illnesses cause the negatives of “Why” and “What is the future?” Illness causes filters in the view of (NOTES Cont) life. In any adversity, if there is one close parent, buffering is phenomenal. Parents offer control and optimism. It is human nature to try to take away the bad, but with a chronic illness, one can probably only add good.
Dr Michael Shapiro, Ophthalmologist
The eye focuses an image of the world onto the retina. The retina translates the nerve impulses and sends it to the brain. The retina is wallpapered to the back of the eye ball. He gave the details from the survey SIP contributed to and said that he used the results to determine his treatment of persons with Stickler syndrome.
Cryotherapy is freezing and laser is heat, both treatments for retina problems. He has had success with both, but prefers laser now. He uses cryo when the retina is totally detached. He will not do Lasex on a Stickler eye, because it may complicate later retina surgery. For myopia, he suggests glasses, for cataracts: surgery; for detachments: laser prophylactics, with buckle, after 10 yrs old. Buckles need to be removed 5% of the time in non Stickler patients, and 20% of those detach. He lasers 2 rows around a retina, before removing a buckle. Retinas want to be attached, but vitreous wants to detach. Cataracts are like looking through a frosted window. Then, Dr Shapiro took questions: Contacts are OK, but watch for infections. Contact use is wise for eyes without a lens. He is a great advocate for scleral buckling; it is much simpler before a detachment. He takes silicone oil out after 4 months, if there is vision. An eye with oil is not a “stable” eye. He only leaves oil in if there is low eye pressure. Any surgery is “no big deal” to the surgeon, because he is not having surgery. Flashes are not a diagnosis of retinal breaks. Floaters are. A new, large ropey group means a detachment. Floaters can be blood or vitreous. A younger person is harder to examine: only 70% accuracy in a 3 year old.
Websites to notice
- DISABILITY AND HOW TO GET IT http://members.tripod.com/~Catnip100/disability.html
- Free meds? http://www.themedicineprogram.com/
STUDY REOPENED
The Connective Tissue Research Study at National Institutes of Health, Baltimore
Title: Clinical and Molecular Manifestations of Hereditary Connective Tissue
Disorders IRB #: 2003-086
Principal Investigator: Clair A. Francomano, MD
Purpose: To investigate cardiovascular, pulmonary, and musculoskeletal
disease, and pain and quality of life issues in Marfan, Ehlers-Danlos, and
Stickler syndromes, and closely related disorders.
Site:
National Institute on Aging, NIH
Clinical Research Unit, NIA, Harbor Hospital
3001 S. Hanover St.
Baltimore, MD 21225
Procedures:
· Review of medical records
· History and physical exam
· Opthalmology examination
· Echocardiogram
· 12-lead ECG
· ECG Holter Monitor (12-24 hours)
· MRI of spine and aorta
· Bone Densitometry (DEXA scan)
· Skin Biopsy
· Blood collection for DNA analysis and routine blood studies
· Urine collection
· Questionnaires about sleep, pain and quality of life
· Clinical Photography
· Pregnancy test (urine)
· Cognition test (a test of ability to think and remember)
Time: The study takes two days and patients may stay at the hospital during
the two days of testing.
Costs: Meals and lodging are provided at the hospital. Travel costs are
currently the responsibility of the participant, however, the study
coordinators are working to get another agency to fund travel for those who
need it.
Contacts: If you are interested in participating in the study or would like
more information, please contact:
- Nazli McDonnell MD, PhD by email at: McDonnellNa@grc.nia.nih.gov
- Clair A. Francomano, MD at (410) 558-8201.
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