Volume 5, Number 3 – September 2000
As autumn approaches, we need to take a moment to appreciate the changes of each season. I like spring, for its newness, summer for the heat to swim, autumn for its colors and winter for the chance to be snowed in. All Blessings!!
INTRODUCING A SIP
I am 23 years old and I just found out that I have Stickler syndrome. Elementary school was absolutely horrible for me. I was teased constantly. I had lost some hearing and wore a hearing aid and they were the big bulky ones. I used to take them off as soon as I left the house, and took off the horrible glasses they wanted me to wear. I had a wandering, blind eye because of three retina detachments and a cataract. And to make matters worse my step-mother cut my then very red hair to almost two inches long and had it permed. How yucky!!
In my first year of high school I had an operation to straighten my eye. It turned out wonderful and nobody would know I was blind unless I told them. I am only slightly nearsighted and wear glasses when I feel I need to. My hearing is a little off but I do fine without a hearing aid now. I was
expecting high school to be a breeze compared to elementary school. Not so!!
My facial features became very prominent in high school-my small chin, the flat face, the very small nasal bridge and I had to wear braces now!! Kids can be cruel but high schoolers are just plain nasty!!
A couple of years into college, I came to Texas from Canada and met the man I would marry. He is wonderful and we are living a dream as far as I’m concerned. We had our first child just three months ago and I was devastated to learn that she had a cleft palate. I was almost crushed when I found out about Sticklers.
Then I realized that we had an advantage with her. Early prevention!! Her hearing has been screened and she has passed, she is slightly near-sighted and she looks just like me as far as the facial features and long bones go. I am determined to overcome any obstacle we can and to teach her she may look a little different and do things differently than others but she can achieve anything she wants to. She is my pride and joy and the most beautiful baby I’ve ever seen.
Now that I know about Sticklers, everything in my life now makes sense. I have found wonderful support through SIP and I finally feel like I fit in. I am an attractive young woman and I feel very confident in myself now. Kids can sometimes be mean and make a lasting impression on someone for a life time and that’s why I’m going to take every opportunity I can to teach my daughter caring, compassion, strength and that she is the key to her own happiness.
I pray at least one person finds strength in my story and knows you are not alone.
SIP is a member of the Genetic Alliance (formerly the Alliance of Genetic Support Groups) and they have requested 300 copies of our brochures. These will be distributed at exhibits at the American Society of Human Genetics, National Society of Genetic Counselors, and American College of Medical Genetics meetings. SIP is offering you a REAL way to “hands on” prevent blindness. Obviously, the more persons who are diagnosed, the more detachments are prevented. Please contact us, if you are willing to have the copies made and to mail them. The cost would be about $25 for each set of brochures and we have 3 different approaches.
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
Also, Nancy hopes to put out a new edition when she gets enough ideas. So, send your hints for a future publication.
NEW IDEA ??????
Think, in advance, of persons you NEVER can find the right gift for. Send SIP a donation for the scholarship fund, in their honor.
We do have some volunteers to start the conference scholarship project. News of that will be in later newsletters. For now, 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 $400 to SIP!!
NEWS FOR 2001
Barb 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!!!!
NEWS FROM SSAS
Glenda is working toward a “get together” for Aussies. She has a great idea of using Cabbage Patch Kids (with glasses) to illustrate a child with Stickler syndrome.
From ANOTHER SUPPORT GROUP
One of our new members has heard
excellent comments about sip from the geneticist and the retina doctor who were at the Denver conference. When she got the Sticklers diagnosis, she was prepared, because she was educated. The geneticist told her he had met so many Stickler families at the conference that were just wonderful, nice and normal. Then Rick gave her the retina doctor’s name that spoke, so she would have one “on hand.” He told her the same thing. He said SIP were great people.
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 contacted SIP, having some time and energy. He is now working toward one of our dreams, to find or start clinics specifically for Stickler syndrome patients. He is looking to find the “experts” in practice, who are familiar with Stickler syndrome and may be willing to start a clinic format. At the least, he feels we will have a list of doctors whom we do not have to educate.
FROM THE LIST SERVER
“I’ve been told that ENTs are trained primarily to fix problems, either medically or surgically. Apparently the emphasis is not so much on “WHY do you have this particular problem”, but “WHAT SHOULD I DO to take care of it”. This explains why ENTs basically throw up their hands when presented with permanent hearing loss. It’s not fixable.”
A member, with a lot of sinus and ear infections, was told that Stickler sinuses are flattened and don’t drain normally. She recommends the following website: http://www.sinuscarecenter.com/”
A diagram called an Amsler grid, which can be used for emergency eye exam (to reassure until the doctor calls) can be found, with instructions for use: www.retinas.com/ V1R3/Information/MacInfo.htm
RESEARCH NEEDS MORE MEMBERS
“I’d like to thank all who expressed an interest in my research project, a survey of audiological findings in connective tissue disorders. As of today, I’ve sent out a total of 19 surveys.. about one fifth to one third of the total number of surveys I’d like to collect. The surveys are designed to screen for a variety of risk factors for hearing loss and connective tissue disorders.
I am especially interested in obtaining information from individuals who, before seeing an audiologist, strongly suspected they had a hearing loss, but were told after testing that they had normal hearing. Or possibly you were diagnosed with central auditory processing disorder (CAPD) with normal hearing. My review of the molecular biology in some varieties of the connective tissue disorders I’m targeting suggests that the auditory effects could be very difficult to detect with routine audiological tests.
Please contact me via my private email address or phone if you are interested in participating in this study. Thanks, Marge Tamas (770) 439-6037 (please limit calls to 9 am – 9 pm Eastern US time) email@example.com”
PLEASE, take a few minutes to contact Marge. The results of this study could give answers some of YOUR questions about Stickler syndrome hearing loss.
At this moment, we are getting prices for the member directory. If you forgot to get your information to Beth, send it TODAY. She will be making pages to add to the directory. She is Beth Johnston, 31 Timber Lane, Marstons Mills, MA 02536 or you can e-mail information to her: firstname.lastname@example.org
F. A. Q.
At the Seattle conference and on the list server, we worked on a list of Frequently Asked Questions and their answers. That article will soon be posted to the website. So, make sure you watch for it!!
FROM a MEMBER
“The other day I happened across a show called “The Operation” on The Learning Channel. They were showing different surgeries and how technology has improved them. They showed a child having his first cleft palate correction surgery. I had never seen a cleft palate – it was very educational and interesting, and really expanded my understanding. They showed after the surgery, the child having speech therapy and how he was adapting. If you are interested, you might look in your TV Guide, or try looking on the TLC web page about that episode.”
ANOTHER WORD from MARGE
Apparently, getting hold of the medical reports is a sticking point for a lot of people. If you are enrolled in the NIH connective tissue study (“Variability of Connective Tissue Disorders” with Dr. Francomano), you have already had the tests that I need the data from. Look for the reports that say “AUD” and “ENT”. Those two reports have
all the hard data I need for this phase of the research.
“I just want you to know that I greatly appreciate everything that you do….I felt totally alone with my son’s Stickler syndrome, until I found your group…..The knowledge and the help you have given me has made me feel like me and my family CAN and WILL deal with this and be
better people from it……THANK YOU for all that everyone does. My son and family GREATLY appreciate it.”
“Thank you so much for the information! I really appreciate it. I went to Stickler.org and I am getting a lot of information. I understand the condition better now. Thank you so much!”
Childhood is an interesting phenomena for parents. The days last forever, and the years fly by.”
The Stickler syndrome conference in July had a NEW approach. We used the THEME : Living with Stickler syndrome. This meant we had MUCH less medical information and much more “every day living” ideas. Please remember that our new format for the conference included Dr Stickler as our only doctor. So, every thing else is layperson information.
DR STICKLER: He said that Martin Snead, in England, advocates prophylactic (preventative) sclera buckling. The quote from Mr Snead is : “Our policy is to offer all patients prophylactic 360 degree retinal cryotherapy and this is mainly type 1 Stickler syndrome. The surgical objective is not to prevent (giant) retinal tear formation (because we know it doesn’t), but to stop this progressing to detach the posterior retina. This is why the treatment must be contiguous without any gaps. All patients seem to be at high risk irrespective of age, degree of myopia and even if the retina looks “normal” which it usually does. In our series of over 100 patients, although many had lattice retinopathy, the commonest fundal finding was normality. This is why vitreous examination is so crucial to not missing the diagnosis rather than looking for obvious retinal “disease”. Dr Stickler says “When you distribute it, you may want to mention that this was a statement of his present opinion which he had sent to me.”
(Notes continued on pages 6-8)
Mr Snead also told Dr Stickler that 60% of his patients who did not have the buckle done had a retina detach and only 8% did with the buckle.
Dr Stickler said that he believes that ear tubes are “not essential”, in fact are questionable in preventing hearing loss. He said if a person is in doubt about ANY surgery, that surgery should at least be postponed until the doubts are removed.
He said that the QUEX showed that speech problems improved with age, and asked if that was true of us who were in attendance. Other info from the QUEX that he highlighted was: Smooth skin, long fingers and toes were common AND height is within NORMAL ranges. Hair loss is not related to Stickler syndrome. The “crackling joints” were a new find. Lots of us use a hot tub, to help aches. We need to be careful with NSAIDs, and only use coated products. 65% of us stated a balance problem. 70% over 60 have had at least one joint replacement.
He said there are over 5000 known syndromes. So, it would impossible for a doctor to know all of them. We need to find a medical team to care for each of us. He also encouraged us to deal with denial.
NIH INFO: The responsibilities that had belonged to Doug Wilkin have been transferred to Jennifer Johnston. No replacement has been announced for Howard Levy yet. From the study, they have found that 75% of us have the COL2A1 mutation. There is a new DHPLC machine that is improving the search for a person’s specific mutation. Doug looked at 10 exons (common spots to find a Stickler mutation) and the machine is examining 51 exons. Joan also said the study criteria has been changed from yearly exams to every two years and that only affected relatives of those already enrolled are being brought to Bethesda, for a while. She also said that, due to our results, they are starting a new Pain Management study.
The study is of three connective tissue disorders: Ehlers-Danlos, Marfan, and Stickler. The purpose is to 1) Look at progressions, 2) Find genetic causes, 3) Relate mutation to symptoms, and 4) Establish criteria to diagnose the syndrome. The progress so far has been 1) to discontinue the CT scans of the temporal bones, due to them all being normal; 2) On a scale of 1-10, pain seems to be 8-9 and caused a new questionnaire to be created and the new Pain Management strategies; 3) New OB/GYN concerns have been created, 4) They are looking at new osteoporosis findings and doing a baseline DEXA (bone density scan) on all participants over 10 years old; and 5) they are confirming the orthopedic findings of past studies. Joan said that 86% of us adults have “back pain. and that 100% of persons over 50 report hip pain.
JAMES MAY, from Fathers Network: Said the trick is the “Find the Balance” in a family with a disability, and to let good times balance the bad. Definition of a family: “A group of people who make an irrational commitment to each other’s well being to the point of making each other crazy” – Urie Brunfnebrenner. He said that we need to see our family as a mobile and keep it in balance or it will collapse, just like a mobile. It can be readjusted but will never go back to the previous shape. He showed a cartoon of a street sweeper with a man running in front of it and said that is how a lot of us feel.
A family with a disability does not have to be a dysfunctional family. Males tend to want to “FIX” a situation, rather than feel guilty about it. Families experience guilt, anger, disappointment, helplessness, and resentment. We need to talk about the problem, not just the impact it is making on relationships. Families organize to handle problems, but find it difficult to change. A chronic illness (ongoing health problem) may become a family member, and act as a “two year old terrorist”,
PRATT :“An ENERGIZED FAMILY talks a lot, establishes community ties (as in coming to a conference), encourages the autonomy of family members, is capable of creative problem solving, utilizing family’s skills, and has the ability to adjust to changes within the family”
He asked “What are YOU teaching your child about PERSONAL independence?”
He said that knowledge is power, that we need to educate our doctors, do not make enemies, and become our own expert. Pain deadens the soul. There is power in perception and in attitude. We should surround ourselves with SUPPORT. Do not try to “go it alone.” “What we give others is what we need ourselves.” Gerald Jampolsky “MAKE PEACE WITH IMPERFECTIONS” Richard Carlson
LEIGH ELSTON, genetic counselor student: passed out a chart of her findings about Stickler syndrome. Explained that “stop Codon” (a term used as part of the definition of Stickler syndrome) is like someone fixing a recipe and does not put in one ingredient. Everyone has 5 -6 genetic disorders. If the first person is diagnosed, the rest of a family is easier to diagnose. The average cost for genetic testing is $2400.
BILL Smedley: Recipient of Guide Dog: – Said he is “legally blind, which makes us illegally sighted”. He spent 28 days in training with each dog, and had to be able to walk 8 blocks twice a day. To attend the school, a person has to be doctor certified. There are adaptive harnesses for persons with arthritis and the company adapts for other diablilities, by need. A person can do a trial meeting, before committing to the school. Bill said he gives about 45 minutes care a day for a 10 year friendship. The dogs are trained to see traffic, stop at curbs and stairs, and to avoid walking hazards. A cane is still needed to avoid overhangs, etc. Bill is soon to retire his second dog, due to the dog slowing down.
His wife was asked if she noticed a great change in Bill’s freedom, after getting a Guide Dog. She said that he was very adventuresome before the dog and just safer after getting the dog.
JODIE RYAN- Community Services for the Blind: spoke about adaptive aids. She demonstrated a closed circuit TV with screen enlarger up to 60x. It comes in a hand held version, and costs about $3500. She finds state funding, employer funding, and church and local agencies may help.
A Q&A format explanation of the employer and employee responsibilities pertaining to the ADA laws is at 1-800-669-3362
She suggested calling your local phone company, with a doctor’s letter, for free information calls, if your eyesight will not let you read the phone book. Call your Internet provider to set up a “profile”, which can enlarge fonts and get rid of some of the advertisements. She said that www.Aisquared.com has a free 30 software for screen enlargements. Contact a Talking Books and Braille library for books to read. A catalog of low vision aids can be ordered from 1-800-INTGRTY.
Jodie suggested that we listen to ourselves, not necessarily “an authority” to understand our body’s needs.
She said that persons with low vision should look into “independant driving” schools. They can teach a person to use a monocular, rather than binoculars. He advised “Lighthouse for the Blind,” as a place for employment and training for low vision persons. They can hire someone who can teach you, according to your abilities. Find a person who will listen.
Jodie feels that seeing a lot of specialists requires a generalist to oversee the patient. She suggested looking up ERGONOMICS on the Internet to see if you need this type of help.
Above all, she says “EXERCISE YOUR ABILITIES”!!!
RANDY BISHOP – Parent of persons with and himself a person with hearing loss from Stickler syndrome: Randy’s kids are now 17 &15. He told stories about April’s superior accomplishments on the soccer field and Mark loosing the use of 5 hearing aids in a weekend. Randy believes that we have to become our own Stickler expert. He feels ADA started some understanding of the limited. Before that, he was considered DISOBEDIENT for not hearing what a teacher said. He said that hearing tests are very accurate for those who can hear.
We should not find “fault” with those who do not understand nor should we fault ourselves. He tried being a “good guy” with the school system, for his kids, and got nowhere. He tried being a “bad guy” and got nowhere. He learned to be their advocate – to forgive others – and to keep a positive attitude. Accept all offers from the system, and then select those you need.
Having a hearing loss is not all bad. Being able to read lips lets you tell what the coach and umpire are saying to each other at a ball game and the “handicapped” section tickets are cheaper.
Randy dreamed of having a remote control for teachers, so he could rewind and rehear the instructions at a higher volume. Our biggest barrier is denying a problem exists. Disability gives a sixth sense and removes tunnel vision.
(The above are one person’s notes, and therefore only what that person heard.)