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| newsletter: vol. XVI, no.1, January, 1995 Contents:
Two new clinics focusing on Arthrogryposis have recently been established. The University of Michigan Mott Children's Hospital, located in AnnArbor, Michigan, began an Arthrogryposis clinic in December, 1993. The clinic is staffed by Virginia Nelson, M.D. (clinic director), Randy Loder, M.D. from pediatric orthopaedic surgery and by physical and occupational therapists from Mott Children's Hospital. The clinic welcomes people of any age and provides comprehensive coordinated care. To schedule an appointment, call 313-936-7185. Dr. Nelson may be reached at 313-936-7200. The Shriner's Hospital in Minneapolis, Minnesota, has begun scheduling an Arthrogryposis clinic four times a year. The coordinator is Kathy Engstrom, RN, who may be reached at 612-335-5320. The clinic is staffed by Dr. Ann Van Heest, an orthopedic surgeon specializing in the upper extremities; Dr. Lyle Johnson, who specializes in surgery of the lower extremities; Wendy Tomhave, occupational therapist; and Mary Strub, physical therapist. In addition to these new clinics, Arthrogryposis clinics continue to be held at the following locations:
By Gabriele Hendrichs Last October I bought a new computer. With this computer I received a free one month's subscription to an online service. There are several online services. Online services offer a variety of services from buying your airline ticket to getting a credit history on oneself. These services offer Internet access, which allows the user to write to anyone in the world that has an Internet address; and e-mail, which is electronic mail. As soon as I had subscribed to an online service, I looked for the DISABILITIES Bulletin Board and posted a message that asked for information on Arthrogryposis Multiplex Congenita. To my surprise, a few days later I received a reply. Mrs. Jody Johnson and her daughter, Joyce Johnson Eberl, were extremely helpful. With their help I received information about this national support group newsletter. A few months ago an interest was shown in starting an online support group. A group has been formed on America Online and there are now a total of seventeen people on the mailing list from different online services or the Internet. Our first meeting was on September 19th of this year. It turned out to be great, eight people showed up. We talked about subjects ranging from available doctors for adults to the age we started walking to what exercises were done during physical therapy when we were young. Our second meeting on October 17th was also a great success; eight people showed up. We had some parents of children with AMC show up and we talked a little about how it feels to be someone with AMC and how it felt growing up and going to school. Our meetings occur every third Monday of the Month at 9pm EST in a private room on America Online. If you would like to communicate via the Internet or if you have an account with an online service, here is a list of the people involved in the group and/or have an Internet address. Their full name will be followed by their screen name or e-mail address.
The following two people also have a separate Internet account:
If you want to communicate with people on Prodigy via the Internet , use their screen name followed by "@prodigy.com." To communicate with people on CompuServe, use their screen name followed by @CompuServe.com," but change the comma to a period; and on America Online use their screen name followed by "aol.com." If you want to information regarding subscription to America Online, please contact me at (407)957-2271 or, through the Internet, you can send it to GabyH@aol.com. Come and join an exciting new way of communicating and sharing ideas. Muscular Dystrophy Assocation of Canada Offers Support for Arthrogryposis The Canadian Arthrogryposis Support Group (CAST) reports in their Spring 1994 Newsletter that MDA of Canada (MDAC) has approved Arthrogryposis as one of the more than 40 neuromuscular disorders covered by their organization. MDAC funds research on neuromuscular disorders and provides support services to individuals and families such as funding for transportation costs associated with medical appointments and assistance with costs for various prescribed medical items. CAST has been designated as an official MDAC Support Group. To receive the CAST newsletter write to:
Spanish Version of Avenues Pamphlet Available Thanks to Berta, Yvonne and Betty at United Cerebral Palsy of Miami, we now have a Spanish translation of the pamphlet, "What is Arthrogryposis?" The translation is available for a donation of $1.00. By Melissa Schmidt Melissa Schmidt, 16 year-old daughter of Jim and Mary Anne Schmidt, thinks her whole life may have changed and she hopes it's for the better. Melissa has recently become one of the few recipients of a Canine Companion. Canine Companions for Independence (CCI) is an organization that matched Melissa with service dog, Ungar, a golden retriever and yellow lab cross. "The cross makes for a better temperament," Schmidt said, "And he's the calmest dog I've ever seen - except when he's given the command 'Release'." Out of the forty-plus commands that Ungar knows, this is his favorite. This lets him know he's off duty and he gets to run around and be a dog. Ungar's choice of pastimes include chasing a black rubber toy called a kong, chewing the kong, and gazing at Melissa's pet lovebird, Mistletoe. "I give him the command 'Leave it' and he's supposed to ignore Mistletoe. It's something that's hard for even well-trained Ungar." Service dogs like Ungar are provided for the physically disabled to help make up for some of their limitations. Ungar can pick up something that Melissa may have dropped, turn on and off light switches, pull open doors, and push buttons to open automatic doors. Melissa hopes to train Ungar to do customized things that are particularly for her - perhaps to help steady her walking on uneven ground. Ungar barks, gives kisses, shakes hands, and toilets (!), each with a spoken command. And what does Ungar think of his new home? "It's great," he says, "I just wish Melissa's sisters were allowed to pet me all the time." For more information about Canine Companions, write to:
Malignant Hyperthermia and AMC
Although anaethesia in AMC patients is poorly documented, of the few reported cases, a significant number have recorded increase in body temperature. This has led to the assumption that AMC is associated with the condition malignant-hyperthermia (MH). Because of this possible association, we have been asked to screen two families with children with AMC, who have experienced a hypermetabolic response during anaesthesia. This would include such features as an increased temperature and heat rate. In neither family did we feel there was any evidence to support the diagnosis of MH. We concluded that the hypermetabolic response that is sometimes - but not always - seen in AMC children induced by anaesthesia is distinct from that caused by MH. In particular, the response in AMC will respond to active cooling alone, whereas MH requires cessation of triggering agents, dantrolene, cooling and aggressive correction of metabolic derangements. The response seen in AMC seems to be independent of the type of anaesthetic agents used. In MH there are definite 'trigger' drugs and 'safe' drugs. Therefore any anaesthetist caring for a patient with AMC should anticipate a hypermetabolic reaction, use appropriate monitoring for its detection and have cooling methods available. Reference: Hopkins PM, Ellis FR and Halsall PJ. "Hypermetabolism in arthrogryposis multiplex congenita." Anaesthesia 1991; 41: 374-75. Vitamin B6 and Post Polio Syndrome In the Polio Network News, Summer 1994, Charlotte Gollobin, consulting nutritionist, describes the case of a sixty-one year old male who was suffering from pain associated with post-polio syndrome. When treated with 100mg of vitamin B6 each day, the pain subsided. The subject discontinued use of the vitamin supplement on several occasions, and each time the pain returned. Gollobin writes: "Vitamin B6 is a water-soluble vitamin. Alone and in conjunction with vitamin B2 it can provide beneficial effects on carpal tunnel syndrome, a painful neuropathy which affects many Post Polio Syndrome (PPS) survivors. There are numerous referneces in the literature to this effect. B6 is involved in neuromuscular function and protein metabolism...Neuromuscualr function is a major concern for PPS survivors...B6 is increased during exercise which has been shown during a recent conference to be quite beneficial to PPS survivors. At this same conference, it was suggested that the female sex is a risk factor for PPS. Estrogen depletes B6 and may, therefore, add to symptoms over time. There are many reasons to study the effects of vitamin B6 on PPS patients. We hope that controlled research studies will be undertaken to determine these effects in a scientific way." [Editor's Note: There are some similarities in PPS and the symptoms experienced by many adults with AMC.] From Families Around the World
...I'm hoping we can find someone in Texas who has a clue on arthrogryposis. I'm especially interested in finding someone who can deal with contractures in the wrists and knees. Nathan's are getting pretty severe. All the doctors we have been to have the attitude that we should just leave everything alone! Nathan in six years old (born 1/22/88). His arthrogryposis is severe in the upper extremities and moderate in the lower. He has no other health problems and he has only had one surgery - tendon releases in both feet. He can walk and skip, but can't run, due to lack of bend and weakness in his right leg. He has no grip in his hands, but can feed himself and write with special tools. My suggestion for AVENUES is to gather tips from parents on how they dealt with different problems. Here are several things we tried that worked well:
You get the idea - I'm sure other parents have "tricks" like the ones we've discovered. It would be a help to parents of younger children with AMC if they had access to this information. We are especially interested in finding out about surgeries for release of contractures in the wrists or knees. If anyone had any information on possible procedures, please write or call!
I want to thank all who called and wrote with self-help skill ideas for Kelly. I would especially like to thank Helyn Strom-Nemiksen and Leslie Nakala for taking the time to call. Your ideas have been a big help. Kelly is doing more and more by herself and we are very proud of her. Thank you to everyone.
I recently got your publication from my son Nicolas' physical therapist. Nicolas was diagnosed with arthrogryposis when he was a day old. He was born on November 2, 1993. I'd like to share a little bit about my son. After three orthopedic specialists had checked Nicholas out, I was told he would never crawl or walk. He had club feet, unilaterally dislocated hips, and AMC. Nicolas' problem areas are basically his left shoulder and also from his hips down... Luckily, Nicolas was accepted in the Shriner's Hospitals in Minnesota. I felt at home there and also felt that Nicolas would get the treatment he needed. His specialist suggested therapy and will be doing surgery on his hips and maybe his knees. They also placed him in AFO's (the Dennis Brown bar had started making Nicolas' knees bow in the middle). He will be in a Parapodium soon. Nicolas is now nine months old, and as always, the true miracle of my life. These children are a rare gift of God. I would like to share my experiences and would like to know more about other people's. I also would like to know of any specialized doctors in this field, research being done, or treatments that might help Nicolas. If I can help anyone, please add my name to the list.
Hello Everyone! I am 32 years old and was diagnosed with AMC at birth. Since then, I have had approximately 25 operations, everything from ankle fusion to hip replacement. According to the doctors, I need most of my joints replaced. The way I look at it, I will be bionic by the time I'm 40. I have been experiencing a lot of pain in my joints due to deterioration. I have found the best doctor for me to see. He is a ruemitologist. The orthopedic doctors can not at this time operate because I have a fifteen-month-old son, and I still need to be able to pick him up from time to time. My shoulders are the first problem to take care of, but until my son can do more on his own, I am stuck! I do have the best helpers in the world who show their support for me in everything that they can do for me. This is my twelve year old daughter, Stephanie, and my husband, Jim! Even Matthew helps me! It's funny how both my children adapted to AMC, they both did everything early to accommodate my disease! So for all of you that want children and have AMC, don't worry you will be just fine. They seem to know from the time of conception their purpose in life when it comes to AMC. I would also like to say that for you parents with children that have AMC , you are very special and without your love and support we would never become the special people that we are! My mother is my best friend and has always been. She let me try everything that I wanted to. She never told me that I couldn't do something. She let me make the choice! That's why today I always say, "I'll try anything once; if I can't do it, I'll try it again!"
I am writing to you regarding my son, Rocky. Rocky is six and a half years old. He was diagnosed with arthrogryposis at birth. He has a spunky personality, is alert, intelligent and quite verbal. He will be entering first grade in September. Rocky uses a walker with four wheels for short distance walking, and has a wheelchair for long distances. Rocky has accomplished sixty steps all on his own. We are presently not involved in any support groups of any kind. Our support system has been our family. Rocky is my first born. I also have a two-year-old son, Ian. Ian was born with no medical problems. Rocky is growing older and bigger and situations continue to arise which we don't know how to resolve or work through. We would like to be involved in a support group for ideas, support and resources. We have run into several problems regarding SSI, medicaid, therapy and transportation. Please respond to our letter. Your response is greatly appreciated.
I wanted to share an idea that we used very successfully when our son Graham was so often in either a body cast or in leg casts. We bought a "crawlagator" (bellyboard) from the toy store that looked like a pear-shaped skateboard with three wheels on the bottom. For the whole first year Graham's legs were in casts so we would lay Graham on his stomach on the board and push him around gently on the kitchen floor. It gave him a different perspective from always lying on his back or sitting straight up and he loved it. His hands were badly bent down to the wrists at birth so I would remove his hand splints and it wasn't long before he was scooting himself around using his hands. I showed him how to lay his hands down flat on the floor to push off and I think propelling himself around the floor helped a great deal to flatten and strengthen his hands. Eventually, we took up all the rugs and he could make his way everywhere. After he outgrew the crawlagator, we built a simple board that was bigger to accommodate his spica cast and he loved racing around the house chasing the dog or playing with his cars. If you have any questions please call or write.
During the recent year, a close friend posed a question my way: "Why did God choose me to bear the burden of my handicap?" He wondered what made me capable of facing life in the manner in which I do. My response: simple. I rarely put much thought to it. I try not to view this as a burden. Just a fact. Some have different color hair. Some, no hair. People are tall and short, fat and thin. Some have arms and legs sculptured with muscular beauty, quickly identifiable as such, too. I, however, was given arms and legs that lean more toward the Picasso-like abstracts... The last time I wrote, I was working in the sports information office at the University of Southwestern Louisiana, traveling with the Ragin' Cajun basketball team throughout the country. Midcourt, press row seating for collegiate basketball... In December 1992, I left USL to join the staff of the Boys & Girls Clubs of Acadiana, a wonderful job working with kids. They brought smiles to my face that no other career placement could match. The place was fun. The time was never a factor. The administrators, though, were another item. Preachings of the good we'd do for kids was the M.O., yet they made sure to avoid the kids at all costs. I was forced from my role after undergoing a total left hip replacement. They even attempted to delay this surgery for their convenience and risk my walking ability for the remainder of my life. I didn't return to work within their time frame, so I was fired. Since that time, I have moved back to the New Orleans area and have taken on a multitude of part-time jobs that include announcing baseball and keeping stats for basketball for Tulane; assisting the administration of and officiating games (yes, even with the hip replacement) for the city's Catholic School Athletic Leagues; working for my father on the Mississippi River. Eventually full-time work with benefits and all that lure will turn its path back into my life. I don't think that will happen, I know so. I, along with the arthrogryposis that affected my arms, hands, legs, hips and feet, turned 32 in mid-July. My hip reached age one in late July. I humor all of it. I approach life in a manner that fits me. It's right for me. It may not be for someone else. I read my copies of AVENUES timelessly, and I'm concerned for all of you -the parents more than the patients because I know that a patient can overcome. It's so much like baseball. The mental part is much more difficult that the physical challenge. Maybe the answer rests within simplicity. Have
a strong heart, a good one that leaves bitterness aside, and the
physical strengths will appear.
Back in February, we wrote you about the happy news of our expected baby. We asked to correspond with any women with Arthrogryposis who had children. We were thrilled to see that our letter was not only printed but was the first one listed! Diane's parents didn't know that we had written and were pleasantly surprised when they read their copy. Tragically, our son, Eric Matthew, was stillborn on the first of August, just one week after we received our copy of AVENUES and two and a half weeks before he was due. Six days earlier, at the doctor's office, his heartbeat was strong and steady, pounding loudly through the fetal heartbeat microphone. We had an autopsy performed, but it revealed nothing other than a low birthweight. We are still mourning the loss of our son, and we probably will for quite some time to come. To those of you who responded to our first letter (including one resourceful woman who managed to get our phone number when we forgot to include it in our letter), we thank you and we are sorry that we didn't reply to you sooner. Our loving family members and friends have been very supportive through all of this, and with the monetary gifts we received, we had enough to cover all of little Eric's funeral expenses and a bit more. We decided to give the remainder of the money we received to AVENUES. One thing we would like to do with the help of AVENUES, is to compile a list of OB doctors who have treated pregnant women with arthrogryposis. From the letters we received, no OB had any experience or source of information concerning arthrogryposis before each of the women who responded to us got pregnant. So we are asking all woman with arthrogryposis who have ever been pregnant to please check with your OB for his/her permission and then contact us with his/her name, address, and phone number. We hope that this list will be of some help for anyone else (including ourselves) who becomes pregnant in the future. [Editor's Note: We wish to express our thanks to the family of Eric P. Hoffman and his fellow workers in the laboratory of E. Hoffman at the University of Pennsylvania who also sent a generous donation to AVENUES in memory of Eric Matthew Voight.]
...Taylor (12-22-92) is now almost two and about a year ago the doctors started noticing that he was not displaying typical development for kids with arthrogryposis...What is different about Taylor is that he has a "density" to his muscles or stiffness which seems to involve all his connective tissue...He seems to be stuck in mid-line. Even his eyes are tight and he has been diagnosed with congenital fibrosis syndrome in his eyes so that he can't really move them from side to side or up and down...They did a muscle biopsy and found that although the muscle tissue looked normal, the connective tissue was thick and dense all over. So far they say there are no other known cases like Taylor's. Dr. Scott (our geneticist) is working with us to see if we can find anyone with a similar diagnosis or clinical findings. We would love to know what Taylor will be facing for the rest of his life... If you've heard of anyone similar to Taylor, please let us know. We still continue to go to duPont for Arthrogryposis Clinic...he is doing extremely well and we are very pleased with all his therapists...
My son, Billy, was diagnosed with arthrogryposis shortly after his birth in 1988. He has scoliosis, was born with club feet, cleft palate and was unable to eat except through a tube in his stomach up until a few years ago. He's had numerous operations and the list of health problems goes on and on. He is now six years old and is unable to walk as of yet. My family has little information on this disease and the doctors also have little information. If you could send any information at all about this disease my family and I would be very grateful. Also, if I can give you any information on my son's condition, I would be glad to help you.
Our son is fifteen and had been a patient at the Alfred I. DuPont Institute in Wilmington all these years. He had the Ilizarov procedure done on both feet and one leg in June '92. Anyone in need of information about this, please contact me.
Our daughter Christine was born on May 5, 1979 and was diagnosed with arthrogryposis affecting her upper and lower extremities. We have been receiving AVENUES since she was an infant, which has been a great source of support and information to us. In August we took Christine to her orthopedic hand specialist for a routine checkup. Her doctor has suggested some possible surgeries that may make Christine more functional...The first thing...would be to fuse her shoulder; then a muscle bicep and tricep transfer on the upper arm; and finally, a possible wrist fusion...Before we go forward with any of these we would be very interested in hearing from any families who might have had one or more or these done. Christine's last surgery was in 1989 on both her feet. She had some problems after the surgery with being sick. The anesthesiologist said we should not let her have general anesthesia again - that she should have a spinal. This greatly concerns us. Has anyone had any problems with anesthesia? Chrissy has had many operations in the past with no problems. And I believe they would need to use a general for all arm surgeries...
Claire Perlman, born with arthrogryposis in June '91, has a new little brother, David. Things are a little hectic around here now. Does anyone know of a swing that schools or municipal playgrounds can buy that will support a 3-6-year-old safely? Claire uses the Little Tykes yellow swings in our backyard but when she starts school she will want a more grown-up swing. With her knee and hip contractures she needs a front loading swing. Any suggestions? Thanks for all the work you do.
Thank you so much for letting us know that we are not alone in dealing with arthrogryposis. Our son, Jesse, was born 8-24-91. He will be three next month and has come such a long way. Only his upper extremities were affected, but he has much trouble eating on his own, toileting, etc. Nonetheless, Jesse never stops smiling. He is very determined and is not going to let anything stand in his way. Although my husband and myself were not sure how we were going to handle Jesse's disability at first, Jesse has given us nothing but joy. We couldn't imagine life without him. AVENUES has helped us in knowing that we are not alone. Thank you!
Our daughter Liliya was born 11-19-92 and was diagnosed with arthrogryposis. Initially she had very limited use of both of her arms. She has shown remarkable improvement since that time, however....She is able to put on her own shoes, feed herself and turn pages on her books. Her left arm and had are much more useful to her than her right but she uses both and is very adaptable. Liliya has been seen at Children's Hospital Medical Center in Seattle, WA, since birth, and has had in-home physical therapy, occupational therapy, and public health nurse services. She has delighted and amazed all of her professionals involved with her. Since Liliya's parents are originally from the Ukraine and have been in this country for only two years, the whole family is learning English together. Liliya is becoming bi-lingual as she learns to speak. We are interested in knowing if there are any Russian-speaking parents of children with arthrogryposis. If so- we would very much like to hear from you.
Our son, Robert, is twenty-eight years old. He uses leg braces and crutches. He drives with hand controls and skis on a sit down ski for the disabled. He works full time and lives alone. We're really proud of him after nineteen operations and a lot of months in hospitals. He's done great.
I am an eighteen-year-old woman and my son was born 9-21-93 with Arthrogryposis Multiplex Congenita. At two months old he got into Shriners Hospital in Shreveport, LA.... At six months he went into the hospital to have his hips put into socket and his clubfeet corrected. Nicholas was put into a body cast for six weeks then into short casts. He came back to get his Klenzacs braces and he wears them night and day for three months and is going back in August. I'm not sure if he'll be able to walk but I am hoping he will be able to. He cannot crawl but he can roll all over the place. He's my little angel. He means the world to me and I want him to have the most help that he can get and more. I would like it if any of the parents or children would write or call me to talk for support.
...We prefer alternative health care for our family and I have found a couple of techniques that make a difference for Rachel's arthrogryposis. Myofascial release has been very beneficial for tissue that is "stuck" in her arms or remolding flabby tissue...improving internal rotation of the legs, mobilizing scar tissue on the feet and releasing tight areas in the hands, fingers and toes. I am experimenting with direction of energy for her tight joints. If you have had success with any wholistic or alternative therapies, Jeff and I would love to hear about it...
... I would be very grateful if you could help with a problem I am having in getting a voice-activated computer for my daughter. She is unable to use her arms, hands, or fingers due to AMC and the school she attends insists on making her write her assignments...I would appreciate any help!
My son Paul was born on 12-30-92 and weighed 2-1/2 pounds... I fortunately was accepted at Scottish Rite Hospital for children in Dallas, TX...Paul was operated on by Dr. Charles Johnston for bilateral hip dislocation on March 17, 1994...Dr. Johnston has diagnosed him as having arthrogryposis...Dr. Johnston will operate on his club feet in the future. I am a bilingual second grade teacher. Because I have to work, no agency helps me financially. Because of pre-existing conditions, Paul is refused medical health insurance. I would like all information on arthrogryposis. I am especially interested in mental development... Many doctors have told me Paul will have some type of mental retardation. I feel they are wrong. They have been wrong so far. Paul continues to weigh 21 lbs. Is weight gain a problem with children who have arthrogryposis?...
...My daugher Julie was born 4-15-94 with AMC...She remains a mystery to those who are treating her. What's keeping her in the hospital is her Sleep Apnea. They aren't sure if this is resulting from her inability to swallow. They say her throat structures are small, but normal, and should improve as she grows...How common is a swallowing disorder with AMC? She does have jaw closure, lip rounding and stripping with her tongue and suction, which she didn't have after she was born. She also doesn't drool and all saliva gets to the very back of her throat, so they think she is doing something (the O.T. says a "clinical swallow"). But the Barium Swallow showed she didn't swallow. If anyone has a child with these similar swallowing problems, please contact me... From the Medical Professionals
I felt compelled to write to you after reading the letter from Michelle Walter and Kevin Cavanaugh. They are concerned that their son Taylor (born 11/22/91) "doesn't seem to want to talk." As a former speech pathologist, I cannot overemphasize the importance of early intervention. Any child who is speech/language delayed should be evaluated ASAP by a certified and licensed speech/language pathologist and audiologist. It is important to first rule out hearing loss and then determine if speech/language therapy is needed. For a list of licensed/certified speech pathologists and audiologists, interested persons should write or call:
I had the opportunity recently to meet Judith Hall at a genetics clinic. She saw two of the children I work with and have a diagnosis of amyoplasia. I have learned much about AMC over the past year and do find that there is very little known by medical professionals. My goal as an orthotist is to expose more allied health professionals to AMC and to instruct my own field in appropriate orthotic techniques. I have spoken twice on arthrogryposis to orthotists at Regional and National meetings. Please let me know if you have any specific orthotic questions. I may not have the answers but would be very happy to check with other orthotists on complex orthotic issues. References on Electrical Stimulation
Published in NARIC Quarterly, Summer 1994 Technical Assistance on the Americans with
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