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Stickler Involved People Newsletter
Today, I am struck by plans. We are a "planner" type of family, making notes and lists for most things. It is the unplanned that is on my mind today. There seems to be so much uncertainty in the world now and so much uncertainty con-nected with Stickler syndrome. I was asked, last night, how to alter a person's stage of denial. I said that was not a good idea, that each of us handles the process differently. if medical care is being handled, acceptance of a named problem will come. I truly recognize the frus-trations of not knowing. There are times that we are better off in that stage. Love who you have, when you have them and show that love often. We cannot go back in time. So, live so you do not have to wish you could.
SIP has a great committee working very hard on the next conference. It will be July 11-13, 2003. The location will be the Park Plaza Hotel, 1335 North Fourth Street, San Jose, CA 95112 1-408-453-5340 Hotel rate of $79/89 includes free shuttle to SJ International, continental breakfast, and free parking. Be sure to ask the reservationist for the SIP rate. The reason that conference registration is higher for persons not staying at this hotel is that SIP receives a reduction on meeting room costs, for the volume of rooms rented. See the enclosed conference brochure and make your plans now! Our conference planner has searched the country and has a great list of speakers. Add this to the fellowship and fun of being with others who understand. You will have no better use for your time or money. The only enemy of good is better. Sent in by Karen Smith
INTRODUCING A SIP
My 26-yr-old husband Adrian now has an answer to why he has had so many health problems all his life, after being diagnosed with Stickler's a couple of days after my son Morgan was born with Pierre Robin's on November 29, 2001. My husband had cataracts at birth, a retinal detachment at the age of 6 (now legally blind in that eye), numerous joint operations to remove flaking bone and cartilage, juvenile scoliosis, etc, etc. As a child his mother took him to every specialist under the sun, even to a child psychologist because they thought he was making it all up! Anyway, now we know and as a result of the diagnosis he has finally been able to receive a disability pension after years of trying for it, just because the doctors can now put a "name" to his condition. My son Morgan came home from the hospital at 2 months old, albeit on oxygen and with a nasogastric tube. Now at 6 months, he is on total oral feeds, enjoying solids and stacking on weight (90th percentile), but he still is on oxygen during sleep because of his periods of severe obstruction. His docs say that a trach is still a very faint possibility if his obstruction increases, but we should be able to just scrape through without it. He already had fluid buildup in his ears from his cleft palate and had tubes put in at 15 wks & subsequent ear infections, but otherwise has not had any other signs of Sticklers... yet. We now believe Adrian's mother has Sticklers (retinal detachment, cataracts, arthritis, floppy mitral valve, etc) and 3 of his 4 other siblings possibly too. Also, my blood type is Rh-, and somehow my body built up major antibodies to Rh+ blood halfway through my pregnancy with Morgan, which is a very rare thing to happen. (It usually only occurs when some of the mother & baby's blood mixes at birth). My doctors now believe that it was because the baby's placenta would also have Stickler Syndrome, and being made of connective tissue, wasn't functioning properly. It's only a theory, but it makes sense to me. However the level of antibodies my body produced means it would be too risky for us to even contemplate having any more children. This has all come on top of a traumatic year for us... our house burnt to the ground in June last year when I was 14 weeks pregnant (our insurance company would not cover us, but that's another story!), my grandfather died 2 days later, and one week later Adrian had a major car accident. The only thing that kept us going was looking forward to bringing our baby home, so when he was born after a traumatic delivery (another story!) and had to stay in hospital 200km away for 2 months, it was hard to take at first. Anyway, we have got through that, and Morgan is growing like a mushroom and is a very happy placid baby. I know many of you have had harder times than us, but I just wanted to give you all my background information. Thanks for reading this! Regards Selda, South Australia
An article published in Genetic in Medicine:Jan/Feb 2003 is the NIH study of 20 of our Stickler syndrome families. These are persons with the COL2A1 mutation known. The purpose of this study was to determine the prevalence of clinical features in this group as a whole and as a function of age, and to look for genotype/phenotype correlations. Their conclusion is that "the variability in the families makes it difficult to predict the severity of the phenotype on the basis of genotype." Simply translated, the NIH did not find a relationship between the COL2A1 mutation and how Stickler syndrome develops in a person or in families. The good news is that our syndrome is getting publicity. The 64 families being followed by the NIH were mentioned. Also, our support group was given credit for providing some of the families AND our study was referred to and included in the referenced materials! One family of three generations is pictured. We mention this because newly diagnosed ask what others look like and most student want visuals. Chart below is from NIH study of 25 persons (9 males and 16 females, ages range 2-73, studied at the NIH) with COL2A1 Stickler syndrome Published: Genet Med 2003:5(1):21-27
NEWS TO US
Sip was contacted by an newly diagnosed person who had been referred to Royal Oak , MI and had several questions. After asking a vitreo-retinal specialist, we found that: "There is an enzyme that will facilitate cleavage of the vitreous to the retina in cases of detachment. Retina doctors at Royal Oak (Associated Retinal Consultants) are one of the leaders in this field. It is referred to as VitrenAse. It does not take the place of retinal detachment surgery at present but makes the surgery less technically difficult. Therefore outcomes should be better for patients. The success of detachment surgery depends on the duration of the detachment." "People can have some vision restored years after a detachment if they have some vision to start with, generally speaking. If there is no vision, meaning they cannot even see light with the eye, then surgery is usually not undertaken." There are quotes from Dr Joseph A.Khawly, MD of Retina And Vitreous Of Texas in Houston. His group is doing a study of VitrenAse and asking for participants. Associated Retinal Consultants , P.C. of Royal Oaks, MI will take new patients, usually on referral from another doctor.
Conference Financial Aide
1) Often a case worker can find funding for a parent to attend an educational conference locally. 2) See www.patienttravel.org for financial help with airfare for the conference, or call 1-800-296-1217. 3) SIP has a small fund to assist with hotel rental and registration fees. Please contact firstname.lastname@example.org for further information or application form.
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
A request for an annual donation of $10 is made to help with expenses for Stickler Involved People.
Joint Replacement Support Group Suffering from joint pain? Considering a knee, hip, ankle, or shoulder joint replacement? Already had one and looking for tips on recovery? Join in and share your advice and concerns with others just like you. http://boards.webmd.com/roundtable_topic/1185
"You would be more successful winning your case if you concentrated on the specific issues which prevent you from working, for example, pain, hearing or vision loss. Having a particular condition is not enough to receive SSI or SSD, it is the impact on your life. Another thing that would improve your chances is you need to speak to your doctors about the fact you are applying for SSI. They need to support your claim in writing. If you are on a great deal of pain medication, your doctor needs to write how this impacts your employability. Social Security's doctors are much more likely to agree with the opinions of primary care and specialists if they have comprehensive up-to-date medical records. Regarding whether SS is a condition which should be recognized and approved for disability would be similar to every diabetic thinking they should qualify. There are people with both SS and diabetes who have very little impairment from the condition. therefore each applicant must provide clear and convincing evidence they are disabled as a result of their condition." Lynda
Stickler Involved People is very proud to announce the creation of the Gunnar B Stickler Scholarship Fund. Dr and Mrs Stickler have generously donated the start-up money for a fund to provide high school seniors, who have a diagnosis of Stickler syndrome, with a four year scholarship. The committee has completed the hurtles for the IRS and has a set of criteria established. Applications will be available after January 1, 2003. Check on the website for the criteria and application or write us. This scholarship fund is now available for your tax deductible contributions!! Please consider helping by making a donation in honor of your parents, or your child or your spouse. This is a good gift suggestion!
SIP is listed in the Organizations Database of the National Center for Education in Maternal and Child Health. The database contains information on more than 2,000 national organizations that focus on issues related to maternal and child health. The database is used to provide information and referrals to groups and individuals, and to foster communication within the maternal and child health community. SIP is getting more requests for information that will be presented to speech therapy classes and more teachers are including Stickler syndrome as a topic for presentations of rare disorders. This is exciting, because we are increasing awareness.
A survey of our list server participants showed: Of 55 responders (and /or family members) who have Sticklers, 11 of those have fibromyalgia. We are not aware of how this compares to the general population, and proves nothing scientific. But, if you have unexplained pain, check into the possibility of fibromyalgia with your physician.
TIPS FOR CAREGIVERS
(adapted from the AMERICAN SENIOR Newsletter, Butler County Department on
1. Write down your medical questions, to help you be clear and to stay
2. Make a consultation appointment with your doctor just to ask your
3. Educate yourself about the disease or disability before you ask the
4. Recognize that doctors may not always have all the answers.
5. Remember that the doctors are on you side; don't take your anger out on
6. Say thanks to the doctor and to the staff, from time to time.
7. Encourage your loved ones to speak for themselves as they grow up. Don'
t always answer questions for them.
8. Include you child in conversations and decisions, as maturity allows.
9. Ask the doctor "what would you do, in this situation?"