newsletter: Volume XVI, No.2, July, 1995

Contents:

AVENUES Online

AVENUES can now be reached at the following e-mail address: info@avenuesforamc.com. If you have access to the Internet, drop us a note and we'll put you on our electronic mailing list. If possible, please send letters intended for the next newsletter to the e-mail address. That will save us from having to re-type the letters.

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Arthrogryposis Video Available

The National Arthrogryposis Foundation, Inc. has produced a video entitled "Coping with Arthrogryposis: A Parent's Perspective," which is available free of charge to interested individuals. The video touches on the emotional and psychological issues associated with arthrogryposis as seen through the eyes of parents and gives insight into the coping process. The video is intended for anyone who may come in contact with children with arthrogryposis, whether as a parent, physician, therapist, counselor or family member.

To order your video, please call 205-823-0786 and leave your name and address or mail a request to:

NAFI
3356 S. Cove Trace
Birmingham, AL 35216

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Distal Arthrogryposis Gene-Mapping

by Dr. Mike Bamshad

In an effort to better understand the causes and natural histories of children and adults with congenital limb malformations, the University of Utah and the Shriner's Hospitals for Crippled Children are collaborating to identify genes causing the hereditary forms of arthrogryposis. The ambitions of this project include classifying the arthrogryposis disorders by their biological relationships, improving diagnostic capabilities, enabling clinicians to provide more efficient management, and achieving greater accuracy in predicting long-term sequelae. The first step toward these goals is to identify where a gene causing a hereditary arthrogryposis is located.

Recently, our laboratory identified a region of chromosome 9 in which a gene for a form of distal arthrogryposis type I (DA1) is located. Individuals with DA1 frequently have congenital flexion contractures of the hands and feet and occasionally abnormalities of the elbows, shoulders, knees and hips. DA1 is the most common of the distal arthrogryposis and is frequent cause of dominantly inherited club foot. The isolation of the DA1 gene may help us to find other genes causing congenital contracture syndromes. We already know that DA1 is not caused by mutations in the same gene in all families. In fact, it is likely that many different genes can cause arthrogryposis. In order to find the genes causing DA1, many more families need to be studied.

We are also investigating many other forms of distal arthrogryposis. Some of these other forms are associated with scoliosis (an abnormal curvature of the spine), cleft palate (a hole in the roof of the mouth) or short stature.

If you or your family would like more information on this project, please contact our offices in the Division of Medical Genetics at the University of Utah. The telephone number is 1-801-581-8943 or mail to:

Dr. Mike Bamshad
Division of Medical Genetics
Department of Pediatrics
University of Utah
50 N. Medical Drive
Salt Lake City, UT 84132
E-mail: mike@thor.med.utah.edu

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Muscle Biopsies - Are They Necessary?

AVENUES would like to hear from families and medical professionals on the issue of muscle biopsies on an arthrogryposis baby. What new information can they give us? Can a diagnosis and prognosis be made without them? Are muscle biopsies really necessary? Please send remarks for the January '96 newsletter (deadline is November 1, 1995).

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AMC Seminar Needs to be Held

We are looking for a set of medical professionals who would be willing to sponsor a seminar on arthrogryposis in the year 1996. The need for this is great. Information needs to be shared and discussed. Please contact AVENUES for help and information.

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Update on Adoption

Last spring, AVENUES sent out a flyer about two Russian children with AMC who were available for adoption. The two-year-old girl, Svetlana, has found a home but Maxim, the three-year-old boy, has not yet been adopted. If you are interested in the adoption of Maxim please contact:

Terri Beel
Americans for International Adoption
877 S. Adams
Birmingham, MI 48009-7026

For information about other children with special needs who are awaiting adoption, contact:

The National Adoption Center
1500 Walnut Street Suite 701
Philadelphia, PA 19102
(215) 735-9988 or1-800-TO-ADOPT

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From AMC Clinic in Seattle

Once again it is time to start looking at the calendar to plan the arthrogryposis clinics for the rest of the 1995 season. The Rehabilitation/Arthrogryposis team has set aside these dates:

  • August 30th
  • November 29th

If your child is in need of appointments this year, you may call Shannon at 206-526-2180 to schedule appointments.

On "Arthrogryposis Clinic" days, the Rehabilitation team is continuing to offer a comprehensive clinic experience including O.T., P.T., Rehabilitation Physician, Orthopedist, Genetics and Nursing. There is also a room available, on this day, 12:00-1:00 lunch hour for parent and kids to bring their lunch and meet with other families; a time to share your experiences and network with each other.

Please feel free to contact Lyn Sapp if you have any questions, at 206-528-2644.

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Post Polio Syndrome

Arthrogryposis bears some similarity to polio in that many muscle groups can be affected. In polio, a viral infection can damage the anterior horn cells in the spinal column which connect to the muscles. This leads to the muscle paralysis and/or weakness. Researchers have also found degeneration of the anterior horn cells in cases of arthrogryposis, although the cause of that degeneration has not been identified.

The similarities between polio and arthrogryposis make current studies on post-polio syndrome of interest to those with arthrogryposis. Post-polio syndrome occurs 15 or more years after the initial polio attack and involves a variety of health problems: "unaccustomed fatigue, a period of muscle aches and pains, new weakness in the muscles previously affected, or even in what were thought to be unaffected muscles, functional loss, cold intolerance, or new muscle atrophy." Those with the most severe cases of polio tend to get post-polio syndrome earlier. Studies have estimated that anywhere from 20% to 100% of those with polio suffer from post polio syndrome, depending on how it is defined. There are about 640,000 paralytic polio survivors according to a 1987 survey.

When muscles lose their nerve supply, as happens in polio, the remaining nerve cells tend to "sprout" and, at least partially, replace the nerve connections that have been lost. The result is that one nerve cell supplies several times more muscle fibers than normal. To some degree the loss and re-growth of nerve connections is constantly occurring in polio survivors. Researchers have found that the remaining motor cells in the spine are under great metabolic stress from the constant high rate of use and from a continual loss and re-growth of the nerve supply to the muscles.

One theory is that the post-polio muscle weakness occurs because the balance between the loss and re-growth of nerve connections to the muscles is upset for some reason. The result is the loss of total functioning muscle fibers and muscle weakness.

Another theory is that post-polio syndrome is caused by "chronic overuse damage". Because polio survivors tend to use their muscles at closer to their maximum strength, there may be some damage to the muscles over time. Although exercise can still be beneficial to post-polio sufferers, it is recommended that they take frequent rests or "time-outs".

Other theories for the cause of post-polio syndrome include re-activation of the polio virus, hormonal changes (lack of growth hormones), normal aging processes, and compounding effects from other health problems. (Based on Post-Polio Syndrome 101: Acute Polio and Post-Polio Theories, in Polio Network News, Fall, 1994)

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A Note of Thanks

We would like to acknowledge and thank Dr. Peter Williams of Australia for his many years of work in treating children with arthrogryposis - he has now retired.

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Avenues Wish List

  • reproduction of past newsletters (cost: $50.00)
  • postage scale
  • reproduction of bibliography (cost: $100.00)

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From Families Around the World

From:

Glenn and Dawn Courter
4 Green Court
Barnegat, NJ 08005
609-698-0909

Courtney is now five-year-old kindergartner in the public school. She is doing terrific and is a brilliant student. She can read, add and subtract, and her mind is just incredible. She physically is doing very well, she walks and takes gym with the other kindergartners (she loves gym the best). Our doctor (Dr. Laufer) says she is doing terrific and progresses more every time he sees her.


From: Ervin and Anna Showalter
Rt #1 Box 513
Wryers Cave, VA 24486-9412

After ten normal, healthy children, we too, became the parents of an AMC child. Caleb was born 5-26-94. His umbilical cord was wrapped twice around his neck and oxygen was needed. He was put in casts at three months (through six months) of age. He is now in AFO's. Surgery on his club feet will be done when he is approximately one year old.

Caleb has stiffness to some degree in most of his joints. Physical therapy has been increased to weekly since he no longer wears casts. An infant educator comes to our home weekly. Caleb's condition is considered a milder case - below 50% severity.

It would be interesting to hear about AMC babies in Caleb's age bracket.


From: Mary Linn
8311 Dillon
Houston, TX 77061
713-649-7605

I have been meaning to write you for some time about my three-year-old grandson, Casey. He was born with AMC, amyoplasia type. Of course we were all shocked, saddened, and frightened of the unknown. As a first and only time grandmother, I was a basket case. It was tough taking Casey to Shriner's Hospital here in Houston for casting, physical and occupational therapy. His arms and legs are both very affected and his prognosis for walking has not been good.

Casey and his parents moved to Alabama last September. In January, they made a trip to the Shriner's Unit in Lexington, Kentucky. The doctor there had a totally different opinion about surgery for straightening Casey's legs than the doctor in Houston. His approach is much more aggressive and he's wanting to start surgeries soon. Since getting these two different opinions, we have decided to take Casey to the arthrogryposis clinic at Alfred I. DuPont Institute in Wilmington, Delaware for a third opinion. We certainly want him to have every chance to be the best he can be, but we don't want to put him through these surgeries if they aren't going to work. His knees are quite bent and stiff. We have heard that the doctor at DuPont knows a great deal about AMC and we are hopeful that he will know the right thing to do.

Casey is the dearest child there ever could be. He is so happy and intelligent and very personable. He has an electric wheelchair which gives him some independence. He goes to the early childhood program at a public elementary school and the teachers are quite impressed with him.

I know Casey has many tough times ahead, but with his darling personality and bright mind, I know he will succeed.

We have AVENUES and read it over and over. We also subscribe to EXCEPTIONAL PARENTS magazine which is a very good source of information for families with a disabled child.

Please add my name to the list of people wanting to share information about these most precious children.


From: Karen Cazzell
6911 Elzey St.
Fort Wayne, IN 46809
219-747-0149

I am looking for any adult who has had a hip replacement. Please call immediately.


From: Larry and Hortensia Alaniz
15223 Redbud Leaf Ln.
Cypress, TX 77429
713-373-0403

Do you know of any organizations that "donate" new or used computers to handicapped children?


From: Carol and Jeff Massa
8 Bowman Way
Newark, DE 19711
302-453-9303

I recently received the 1-95 issue of AVENUES. After reading it, I fell so blessed that my girls, Andrea (11-28-90), now four years, and Olivia (4-29-93), nearly two years, have been released from Dr. Scott's care at DuPont Institute. They were both diagnosed with AMC at birth, even though we'd been told the chance of any of our children could have AMC was only 1 in 4. We beat the odds!

They both had minor cases of AMC affecting their hands. With splinting and physical therapy, they're both able to do anything other children their ages do.

I'd like to pass on to other readers that we experienced a lot of problems obtaining insurance. Finally, we were told of Disabled Children's Medicaid which is a program sponsored by the state of Delaware. I recommend that other parents of children with AMC check with their state government offices to see if they are eligible for this benefit.


From: Trish and John Reese
39 Marcadon Ave.
Ridgefield, CT 06877
203-438-2938

Glad to hear you are on-line! I may pop in some night. What a great way for parents to get immediate help...wish they had computers when my son was born twenty-six years ago. I'm sure he'd be happy to correspond or receive calls from parents with questions.

My son, John, was born with a moderately severe case of arthrogryposis multiplex congenita on April 2, 1968. He will be twenty-six and is married to a lovely girl, Heidi. They live at 224 Kingsboro Avenue, Upstairs Apartment, Gloversville, New York 12078, phone: 518-773-7597.

When John was born, my brother-in-law was at Harvard Medical School so he was able to find out where John could get the best medical care. Our pediatrician was able to diagnose John's problem as he had had a patient two years earlier.

At birth John's elbows were bent totally backwards; so were his knees. His shoulders curved inward badly, his toes were bent to his heels and his hands folded into touch his wrists and nothing moved but one little finger. I guess I should have suspected, since I felt next to no movement during the entire pregnancy - just the little finger tickling me.

John was taken via ambulance, within 24 hours of birth, to Boston Children's Hospital where he was under the care of Dr. Arthur Pappas. He still sees Dr. Pappas but at the University of Massachusetts Medical Center, 55 Lake Avenue, Worcester, MA 01605, 508-856-2372. He stayed there for the first three months of his life. For one of those months, he had pins through his legs in three places to give 24-hour traction to his knees so they would bend. He was given physical therapy two to three times per day for 1 1/2 hour periods. He wore casts on his arms, hands and legs until he was eight months old, He had two sets of casts for his legs, one extended and the other flexed, which were switched several times a day.

At three months of age, John's body was straight, but little moved. I went to the hospital daily, for one week to learn the therapy. It consisted of stimulating (stroking) each muscle group hoping for a little jerk or movement ...eventually after days or weeks, there was a little movement. Also, each joint had to be moved by giving traction (a gentle pull on the joint to keep the joint from being harmed when moved, and then bending carefully and holding to the count of ten and releasing. This was to be repeated 10 times, if possible, and done three times per day up until six months for 1-1 1/2 hours. Then done twice a day up to two years, then once a day to age ten spending about 15 minutes a day. While doing these exercises I would tickle and play with John and love him up when I was finished. He came to hate these exercises about this time and fortunately, 1found that there was a physical therapist he could see at school instead of going to gym. The exercises are very important for AMC. Although AMC is not a deteriorating disease, it can regress. If exercises are not done, joints will tighten up.

There were several times while doing the exercises my husband broke a bone. We would get in the car and drive the three hours to Boston to get it set as only Dr. Pappas seemed to know what to do. Besides these trips, we would see Dr. Pappas about every three months and at that time x-rays were taken and a physical therapist would monitor the progress and tell us what we had to work harder on and what was going well. The therapist would give me new exercises to perform.

Johnny walked at twenty months and fed himself at about two years...At five he learned how to get up by himself when he fell.

At six years old he had 75 degrees bend in his knees and 90 degrees in his elbows, but no biceps. Other muscles took over and both hands, together, would bend for feeding etc. Johnny was a very happy, outgoing child. When asked about his disabilities, his answer (and ours) is "I was born this way." We explained to him that anyone teasing him had worse problems than he did, because theirs were in their head. Everyone has some kind of problem...allergies, overweight, whatever. He had lots of friends and found his own way to everything everyone else did. At six he started to learn how to dress himself and could put on his underpants and pants.

John learned to swim, ice skate, roller skate, XC ski and horseback ride. For five years once a week I took him from school in the middle of the day to go to the Pegasus Horseback Riding Program in Darien at the Ox Ridge Hunt Club. He loved it. At about fifth grade I learned that the school system employed a physical therapist so we got him enrolled in the program as he was really very limited in what he could do in the regular gym. He had two 45-minute periods a week for physical therapy where he got therapy, exercises and worked out on a nautilus machine. His therapist Bonnie Fischer was terrific and became a good friend.

At ten, he was operated on his left hand to take out the webbing. This operation wasn't very successful.

At thirteen, John was still very happy and active. He attended the seventh grade at the local junior high school via bus. The only accommodations which were necessary were three sets of books - one in the classroom, one at home, and one in the study hall. He also had permission to leave any class five minutes early and to use the library stairs. Outside of school he enjoyed riding on his electric bike made by Pedal Power in New Jersey.

He eats by either leaning on the edge of the table, or bending both arms with the hands together. Somehow, this compensates for the lack of biceps, and allows him to lift his glass. He has been dressing himself for several years, but added the finishing touches at about eleven or twelve years old. Since he has no biceps, but does have a 90 degree bend in his elbows, he uses the wall or a bureau to lean on to pull a shirt over his head and take it off. Teeth also come in handy. It helps if the shirt is a little bit big so it shakes down easily. To put socks on, John uses garters attached to two-foot long grosgrain ribbons. He uses two of these, one on either side of the sock. I used to attach them for him the night before, but by age thirteen he could attach and detach them himself. I put 1 1/2" velcro at the top of his pants so they press together easily (sewn over snap/button). He has an elastic belt which has a magnetic closure which he threads through the loops of his pants before putting them on. Again, by maneuvering, he can close this...He uses a long-handled shoehorn for his shoes but sometimes doesn't need this. He prefers sneakers, or shoes with basically flat rubber soles. To tie, he bends over with his head against the bed, so as to not lose his balance. He started putting his coat on by throwing it over his head, but now puts one arm in at a time, and zips by leaning against the wall. Hats go on and off with wall and teeth.

The years between the age of thirteen and twenty were very hard for John. Although he had always seemed well adjusted, we should have had family counseling all along. He began having difficulties in his teenage years when the other boys were getting into sports because he thought we thought he was crazy...he has eight broken bones - usually elbow or leg from falls when he did not use his best judgment.

At eighteen he was a senior at the local high school, attending all classes except gym for which the physical therapy was substituted twice a week for 45 minutes where he worked on a weight machine and did other exercises...He got his license at age sixteen and drove a regular automatic car. He was on the high honor roll in his senior year and appeared to be a friendly, happy individual. John had a girlfriend for about six months in his senior year. He went to all the proms and is a very good dancer. He was accepted at Union College in Schnectady, New York and went there 1 1/4 terms. He started college in adverse conditions - his girlfriend broke up with him because of pressure from her parents about his disabilities and he had fallen and broken his arm and was able to figure out how to function on his own so insisted on starting rather than delaying college. He did quite well the first couple of months but the fraternity he pledged rejected him because they felt he might fall down and sue them. This devastated him. Things were all down hill from there. He asked to come home...He worked for 1 1/2 years at Friendly's restaurant and then applied to Western New England College in Springfield, Massachusetts.

John's work experience to this point had consisted of a checkout person at Stop and Shop for about a year, a waiter at Friendly's Ice Cream Shop and a cashier and plannogrammer at Caldor's.

John graduated from Western New England College in May, 1993, and has maintained about a 3.0 average. It was the perfect school for him. He was not the only disabled student on campus like he was at Union.

He convinced his lifelong friend, Heidi Smith, to attend AIC down the street from WNEC. He started to date her and they became engaged the summer of '91. They were married August 23, 1992. Heidi graduated from AIC May,1994. Heidi and John are very happy. They both work for Lexington Center in Gloversville. The company cares for mentally retarded adults.


From: Heather Avery
9018 Katherine St.
Taylor, MI 48180

I am diagnosed with Arthrogryposis Multiplex Congenita and am writing to you because I don't know a great deal about my condition. Please place my name in your registry of individuals with my condition.

I would appreciate knowing about any resources in my area (Detroit, Michigan) that might be of assistance to me. I am a 15-year-old female and attend school at Truman High School in Taylor, Michigan. I plan to attend college after I graduate from high school.

I am personally interested in knowing why I was born with Arthrogryposis Multiplex Congenita and how this affects my height (59.25"). What is the likelihood of my children having this condition? I have a leg length discrepancy of about 1.5" which is giving me pain in my longer hip and my shorter knee "pops out". I'd be interested in reading about what's being done for these types of lower extremity conditions in people with Arthrogryposis Multiplex Congenita.


From: Denise Duhamel
85 Thurber Ave.
Brockton, MA 02407
508-586-3358

I am a 17-year-old female with a case of Arthrogryposis Multiplex Congenita. All four of my limbs are involved. I was born in Stoughton, MA on October 21, 1977, and was immediately rushed to the Floating Hospital in Boston, MA, where I was diagnosed as having AMC. When I was two days old, I became the patient of Dr. Zimbler, who is an Orthopedic doctor. He put casts on both my arms and legs. I stayed in the hospital for about a month and a half. I got my first electric wheelchair when I was three years old. In my life I have had three wheelchairs and about twenty operations. My latest operation was in 1992 on my back. I had a spinal fusion and, let me tell you, there are some advantages and some disadvantages of having this done, but I still think it was worth it. The thing that has been most difficult in my life has been school. The years from preschool to junior high were the best. Once I reached high school, everything went down hill, because the teachers did not understand my disabilities. During my freshman year I transferred to the Massachusetts Hospital School in Canton, MA, which is a school for the physically challenged. You can live there or be a day student like I am. M.H.S. provides P.T., O.T., Speech, Computer lessons and a lot more. I have been getting P.T. and O.T. since I started school. I would like to hear from kids or adults with AMC, or parents who have kids with AMC, and if you have any questions, I will try to answer them.


From: James and Kim Oliphant
22520-14th Pl.
W.Bothell, WA 98021
206-486-9470

Thank you AVENUES! For the past two years our family has been "graced" with this wonderful newsletter that has given us so much knowledge, information and hope for our daughter Nicole.

Nicole is now 2 1/2 years old. When she was born her legs were contracted into her crotch, her arms appeared to be stuck to her sides and she had some scoliosis. I remember thinking her fingers looked like spaghetti. Nicole was taken, by Cesarean, four weeks early. This was due to "problems'' detected through ultrasound. Had I not been so persistent in finding out the sex of our baby (she was breech and previous attempts were unsuccessful) this final ultrasound would probably not have been done. I still say it was a Mother/Daughter connection! This last ultrasound lasted three hours and I laid there lifeless while three doctors viewed but wouldn't tell me a thing! My worst fears were that of "not knowing". I was then told that my baby "girl" may not survive birth, as a "worse case" sinario, and as a "best case" she would be born with club feet. The doctors truly did not know what they were facing. In the ultrasound they could not see one of her legs and one of her arms. For the next two days Jim and I sat lifeless on 'the couch as we awaited the planned birth. It was the longest two days of our lives. I did not look at our daughter for the first day of her life then finally my husband forced me to go into the intensive care unit to see her. I was so scared of what I would see. When I got in there all I saw was my "beautiful little girl". I knew at that moment that despite her special needs she was my little girl and our love for her was unconditional. We were told that due to further complications with the umbilical cord, in utero, that Nicole would not have survived a full term pregnancy.

Well it is now 2 1/2 years later and guess what...we survived! Since Nicole's diagnosis at two weeks of Arthrogryposis/Amyoplasia (affecting both arms and legs), we were fortunate to have overwhelming help and support from our family and friends. A muscle biopsy was done at 2 1/2 weeks with no muscle present in upper thigh. Nicole received fat deposits in place of muscle in both her arms and legs. However, now, I'm not so sure she doesn't have some muscle.

In the issues of AVENUES we have received, not much is mentioned about the Amyoplasia "type" of arthrogryposis. I was led to believe that this was a very common type? We would be very interested in hearing from (via letter or telephone) anyone, younger or older, that is familiar with Amyoplasia. Most of all we are interested in success stories as well as the more challenging areas. Do most of these children walk? (Nicole's doctor at Children's Hospital in Seattle said she would walk on her own someday) When? Currently Nicole can sit up independently and can roll over. She can scoot on her back. She is working on a self feeding device which is great for gaining independence. She can grasp between her fingers and throw small objects. Nicole's cognitive is above average. She can count by herself to fifteen, knows all her colors and speaks full sentences. We are very proud of her! She receives physical therapy three times a week, hydrotherapy once a week and attends school two times a week. So far Nicole has had releases on both heels and abductor and flexor releases on her hips (her legs are in the hip sockets). She has a battery powered buggy that was specially adapted for her. She drives around the neighborhood like "The Queen!" All of the other kids want to ride it! We also just received a Prone Stander which she will stand in every day to strengthen her hips, etc. and prepare her for leg braces. She is scheduled to have knee releases at the end of May, 1995. What surgeries have been most successful?

Nicole's dad is very talented in making special adaptive devices for her. He can pretty much make anything she needs. So far he has made a corner chair/table, floor scooter with wheels, and a bath tub support. She is very lucky to have such a great daddy!

Now that you know Nicole's life story...we would love to hear from you!


From: Antonio R. Rivera, M.D.
19 Cedar St.
Midland Park, NJ 07432
201-251-9379
Office 201-489-9160 ext. 119

I am sorry I never wrote back to you since you kindly sent me a package to my address in Peru back in early 1990 with information about AMC which included a list of physicians interested in the cause and treatment of this syndrome. My family and I moved from Peru to the U.S. after I got a job in a pharmaceutical company and we settled our home in New Jersey on August, 1990.

Let me summarize what has happened with my daughter Andrea since then. First, I took Andrea to Dr. Jay, Director of the Arthrogryposis Clinic at the DuPont Institute, Wilmington, DE. He had his reservations regarding the diagnosis, and since her case was not surgical, he made a transferal consultation to the geneticist, Dr. Scott, at the same institution. After the third trip, we declined to take her to the institute again since we were concerned with their quality of care delivery. It was not a good experience. Thereafter, I looked on your list for other physicians that were around my area: Dr. McKay in Washington, D.C. had moved his residency to Louisiana; Dr. Griffin in Baltimore was retired. Two and a half years ago, I fruitlessly tried to set an appointment with Dr. Hall in Vancouver, Canada; they told me that Andrea's clinical case needs to be seen by another doctor prior to Dr. Hall's appraisal.

Andrea is 6 1/2 years old, she is walking and does some running even though she has moderate range of motion limitations in the pelvic girdle and also in the scapulo-humeral girdle and severe contractures in three fingers of both hands. Andrea has mild mental delay comparing with other children of her age but she is very sociable. She is continuously having O.T., P.T. and speech therapy, this last in English but we'll keep her bilingualism since we speak Spanish at home. Andrea attended an early child educational program in the community, including in the summer time and currently, she is going to kindergarten at the same school that my other children go but she is in a special education class. She is being evaluated by Dr. Konisberger, Neurologist from the Medical and Dentistry School of NJ at Newark and by Dr. Roye, Orthopedist from the Baby's Hospital of Columbia Presbyterian College of Physicians and Surgeons, New York.

We have been looking for the final diagnosis of Andrea's condition and with a total uncertainty of what is going to be her long term outcome. The diagnosis of Andrea's clinical entity is still a "mystery" for her physicians but as they say: the good thing is that she is functional and her improvement has not stopped until now. However, not a long time ago, Dr. Roye concurred with the original diagnosis of arthrogryposis; thus, I decided to re-start my communication with AVENUES.


From: Heidi Lewis
68 Apple Dr.
Exton, PA 19341
610-594-0203

We still continue to go to DuPont for the arthrogryposis clinic, but it is now becoming more apparent that Taylor has a very different form of the disease than any of the children we meet. Despite all this he is doing extremely well and we are very pleased with all his therapists. Taylor really seems to know that he has to work hard and he has an unbelievable way of adapting to do whatever he wants.


From: Kirby Sanderson
12168 Chestnut Crescent
Pitt Meadows, B.C.V3Y 2C6

On May 2, 1993, our son Scott was born. In addition to having severe hydrocephalus, Scott was also diagnosed as visually impaired and having arthrogryposis in his hands and wrists. Scott received his first shunt when he was five days old. It's blocked twice since then for which Scott has undergone two emergency surgeries. Scott, unfortunately, experienced a haematoma following his second shunt revision which left his right side limp. Scott has regained some strength and use of his right arm and leg but it's taken Scott ten months to begin to move his right fingers again.

Scott's body's been terribly weakened by the number of surgeries and complications he's faced in his first year of life. Despite this, Scott is now able to sit on his own for twenty minutes, twice daily, with supervision. This is a huge accomplishment for Scott with his shoulders, upper arms, and trunk being his weakest areas. Whether these weaknesses have resulted from Scott having hydrocephalus or arthrogryposis is debatable. Scott's hands have been fisted since birth. Daily splinting, stretching and massage have helped tremendously to open up Scott's hands. Scott's thumbs lie flat against his palms and his index fingers curl under more tightly than his other fingers. This had made feeding and grasping toys very challenging for Scott but not impossible. Scott prefers to use his last two fingers and palms to grasp as these fingers are only mildly affected by arthrogryposis.

Scott is lucky to have a very dedicated team (physio, 0. T. and speech therapists) helping him to use his thumb and index fingers, to move his body and to verbalize. Scott's been fitted for his first standing frame. Orthotics are being made for this as Scott's feet may now, too, be affected to some degree by arthrogryposis. Scott now smiles readily. He giggled hysterically at me last night as I danced around the kitchen for him. Scott loves the vibrations he feels through the floor while sitting in his exersaucer. Scott also babbles away when travelling in our back pack.

There have been many rewards for us in working so diligently with Scott in his first twenty months of life.

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From AMC Support Groups

From: Joyce Jeppeson
Co-Founder of CAST
365 Fiddler's Green Rd. S.
Ancaster, Ont.
CANADA
L9G 1X2

The Canadian Arthrogryposis Support Team (CAST) has growing membership located all across Canada. This largely due to the fact of AVENUES' existence. AVENUES provides possible link-ups between parents and support groups not only in the U.S. but around the globe. I commend AVENUES for printing all the international support groups in their January newsletter.

As you realize the rarity of this condition, it is very important the parents and support groups contact each other to share all the information that is available on arthrogryposis. If we all work together, we can serve the people a little better.

To give an example of how this works, I received a letter from the coordinator of a parent-to-parent group that is located in the U.S. She was requesting information on arthrogryposis that is written in Spanish. I was not able to supply her with anything but an address. It was AVENUES who had their pamphlet "What is Arthrogryposis" translated into Spanish. Now these Spanish-speaking parents can get some information.

Keep up the good work AVENUES, TAG, TAAG, CAST, TAG-NZ, IGA, GISA, and all the other support groups out there.

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From the Medical Professionals

From: Krankengymnastik Ulrike Mattes
HubertusstraBe 12
52477 Alsdorf
Tel: 02404/7010 + 7012

I'm a physical therapist in an institute for prevention and rehabilitation. I'm specialized in neuro-pediatric and orthopedic therapy and this is the reason I have contacted you.

In the last few years I was concentrated in doing treatments with children with the diagnosis of AMC, and in this case, the main part of the therapy was the concept of Vojta-therapy. This therapy is a neurophysiological course of treatment which through the proprioceptive stimulation of certain "triggers" spreads through the coordination complex via defined chains of muscles and builds up the muscles through isometric resistance.

With an early diagnosis, the parents can be integrated in the therapy through a co-operation with the clinic or GP to such an extent that they can lay foundations for the contracture therapy and/or coordination complex in a responsible manner and thus carry out preparatory work for the operation and help avoid secondary damages.

If you are interested in exchanging information, please contact me at my above address. Since I am residing in the States for several times a year, I could arrange to meet with you.


From: Elizabeth Brewer, OTR
California Children's Services
Whitton Therapy
3031 E. 18th St.
Oakland, CA 94601

I work in an outpatient therapy unit which serves children with physical disabilities, a majority of which are chronic in nature. In the past ten years we have treated two or three children with Arthrogryposis. Within the last 6 months, 5 children have been referred to us with this diagnosis, three of which are under one year.

We have some information on Arthrogryposis Multiplex Congenita but are interested in learning more regarding theories of etiology, types ( I currently have a child diagnosed with Type II B), and treatment/splinting techniques.


From: Gregg M. Strathy, M.D.
Gillette Children's Hospital
200 East University Ave.
St. Paul, MN 55101
612-291-2848

...I would like to let you know that we have been treating patients with arthrogryposis essentially since the conception of Gillette Children's Hospital in St. Paul, Minnesota. Gillette Children's Hospital has been in existence for almost 100 years, having been founded in 1897. Our arthrogryposis patients are usually seen in the Growth and Development Clinic which meets weekly. This clinic is staffed by Dr. Lowell D. Lutter and myself.

We are both orthopedic surgeons. We are complemented by a full staff of physical medicine and physical therapy personnel, as well as a full bracing, seating and orthotic laboratory.


From: Karlene L. Belaire, P.T.
Pathway School for Exceptional Children
1429 West Grand River Ave.
Howell, MI 48843
517-546-3030

I am a school physical therapist who works with a third grade girl with AMC. This student wishes very much to ride a tricycle, i.e. a trike that is like a standard trike, not one of those styles that is low to the ground.

I have tried her on a Rifton trike (the smallest they make), and she is actually able to pedal the trike, but not without deviating the front wheel from side to side. Because of the lack of upper extremity function, she is not able to steer the trike. She will try the next largest trike soon.

Do you have any information on trikes that have been adapted for AMC kids which permit steering and pedaling? If so, please send me sources or ideas.

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Short Notes

Lekotek Toy Resource Helpline
The toll-free Lekotek Toy Resource Helpline was created to provide individualized assistance in selecting appropriate toys and play materials for children with disabilities. For more than fifteen years, Lekotek has provided play-based programs for children with disabilities at 66 centers in 19 states and Puerto Rico. Using the Helpline, parents, family members and friends of children with disabilities who are not within reach of a Lekotek center, can receive individual consultation on toys and play over the phone.

Individuals can reach the Helpline by calling 800-366-PLAY (TTY 708-328-0001) Monday through Friday from 9:00 am to 4:00 pm (Central Time). A certified Lekotek Leader will be available to answer questions on toys and creative play ideas for children with disabilities.

For more information, please contact the National Lekotek Center at 800-366-PLAY.

Book About Children With Special Needs
I am writing a book about children and youth with special needs from the ages of seven to eighteen. I am a social worker, writer and mother of three children. My third child was diagnosed with cerebral palsy. The research for this book began as I searched for information to help our family. I now hope to include the ideas, thoughts and feelings of others living with special needs.

Through your participation, you will have the chance to contribute to a book which can help others. If you would like to be included, please write or call. I would love to hear from you.

Write or call to ask questions or to receive a questionnaire from:

Cathy Binstock MSW-ACP
5300 N. Braeswood Blvd.
Suite 185
Houston, TX 77096
713-723-5813.

Wardrobe Problems?
Quite often people with disabilities, including those in wheelchairs, have difficulty buying clothes off the rack. Simplicity Pattern Company and Drexel Design Press have released a book covering functional and fashionable clothing for people with disabilities.

Design Without Limits offers not only ideas on clothing but also fashion tips. The book costs $19.95 from Simplicity Patterns, P.O. Box 109, Revesby NSW 2122.

From Open Line, October, 1992

The Ski Doctor
We at Ski Doctor Designs and M.G.T. Healthcare are proud to announce the introduction of our revolutionary Shockshaft F-1 forearm crutch and snow skiing outrigger. If you have any questions or comments please call or fax us anytime. Ski Doctor Designs / M.G.T. Healthcare Products, 3951 Performance Dr. #C, Sacramento, CA 95838, phone 916-646-3352, fax 916-921-1643.

How to File Complaints

Title I
Complaints about violations of title I (employment) by units of State and local government or by private employers should be filed with the Equal Employment Opportunity Commission. Call 800-699-4000 for the field office in your area.

Title II
Complaints about violations of title II by units of State and local government should be filed with:

U.S. Department of Justice
Civil Rights Division
Coordination and Review Section
P.O. Box 66118
Washington, D.C. 20035-6118
202-307-2222 (voice)
202-307-2678 (TDD)

Title III
Complaints about violations of title III by public accommodations and commercial facilities should be filed with:

U.S. Department of Justice
Civil Rights Division
Public Access Section
P.O. Box 66738
Washington, D.C. 20035-6738

From Rehabilitation Gazette, August, 1994

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Pen Pals

Please add the following names to the list of young people with AMC who would like to correspond with others:

John Kirkpatrick
P.O Box 386
Crane, TX 79731-0396

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