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| newsletter: vol. XVIII, no.1, January, 1997 Contents:
Researchers in England have recently identified that there is an autoimmune cause for Arthrogryposis in a small number of families. At New York University, we are collaborating with the group at Oxford University to see how common a cause this may be. Families with a child with Arthrogryposis are being recruited for a research project to help understand the cause of Arthrogryposis. The project will look at certain antibodies in the blood of mothers of children with Arthrogryposis. The study involves a short telephone interview and a sample of blood from the mother of a child with arthrogryposis. The blood sample can be sent regardless of the location of the family. If interested, please call Dr. Bob Wallerstein at 212- 263- 1099, Fax: 212- 263- 7590, or e-mail waller01@ mcrcr6.med.nyu.edu for more information. Arthrogryposis Bulletin Board Established Mr. John Sneddon (Xetro@msn.com) has arranged to have an arthrogryposis bulletin board established on the Internet. To reach the bulletin board point your web browser at: http://www.support-group.com/links/amc/index.htm. Select the “View the Board” button on that page. You can post or reply to messages on the board as well find other information related to arthrogryposis or disabilities in general. John writes that the bulletin board is not meant to be a replacement of the Avenues e-mail list but as an alternative resource for those who seeking information on arthrogryposis. Note: The Avenues e-mail list, managed by Diane Voigt, works on a different principle. Iinstead of posting messages on a bulletin board, you mail your messages to the list server and the message automatically goes to everyone on the list. To subscribe to the Avenues list server, send a message to MAISER@ hoffman.mgen.pitt.edu. Leave the subject line blank. In the body of the message, type SUBSCRIBE AVENUES. For questions about the list, send a message to: Diane@hoffman.mgen.pitt.edu. New Electronic Mail List for Disabled Parents Eric Voigt writes: New Internet Chat Location for AMC Carly Matthews writes: For more information on how to participate in these online chats, contact Carly at carlym@u.washington.edu or Gaby Hendrichs at gabyh@aol.com. German Support Group Plans Meeting An invitation from Karl-Heinz Umber: Are you interested in participating? The whole accommodation will be organized by the IGA group. Dr. Axt, an orthopedist with experience in AMC and Mrs. Hahn- Appold, a specialist in therapy will talk to you. Both are from the university hospital of Heidelberg. Furthermore you can discuss some aspects of AMC with other participants together. Please note that the whole meeting will be held
in German language. Our special thanks to Miss Amy Lee Laurencelle, Wendy Atterbury, and Oscar Castro for their efforts in putting on a benefit art auction for AVENUES over the Internet. Miss Laurencelle organized the effort. Ms. Atterbury donated the Internet site and handled the auction. Oscar Castro donated the oil painting that was auctioned. Our thanks go also to Maureen O’Hara, the winning bidder. Arthrogryposis Clinic Scheduled Arthrogryposis Clinics have been scheduled for April 30, July 30, and Oct. 22 at the Children’s Hospital and Medical Center in Seattle. The clinic includes Occupational and Physical Therapy, Orthopedic Specialists, Genetics and Nursing. A room is reserved from 12:00–1:00 p.m. where parents and kids can bring their lunch and meet with other families. Call Shannon at 206-526-2180 for an appointment or Lyn Sapp at 206-528-2644 for information about the clinic. The second annual Arthrogryposis Picnic is scheduled for August 9, 1997, at Moundview Park in Newtown, Ohio. The time is 11:00 a.m.–4:00 p.m. Contact Kimberly Slone at:
Ms. Slone writes: Please write or call for input. All help is welcome and needed. Hope it will be as enjoyable as last year’s. Hope to see you there. Summaries of recent articles on arthrogryposis from the Medline database, National Library of Medicine Title: Arthrogryposis associated with
unsuccessful attempts at termination of pregnancy. Title:
Incidence of maxillofacial involvement in arthrogryposis
multiplex congenita. Title: Medial-approach open reduction
of hip dislocation in amyoplasia-type arthrogryposis. From Families Around The World
Michael is twenty-seven months old and has strong triceps but no biceps. He is unable to bend his elbows actively but has good passive range of motions in both of his arms. He has to use a surface, table, or his knees to put his hand to this mouth. We heard muscle transfers are more beneficial at an early age like two–three year rather than one who’s nine–ten years. He’s a candidate for a triceps to biceps transfer as his triceps are strong. If he has strong lattismus or pectoralis muscles, they can transfer one of these to the biceps. I am so afraid that if he has the triceps transfer, he may lose a lot of the triceps function and his arm may become useless. He is able to do a lot with his arms now except for active elbow flexion. I am searching for answers as to what should be done for my son. If anybody knows anything or has experienced this muscle transfer, please advise. Michael’s future is in our hands.
Our son, Morgan, born 8-28-91, adopted in 1992 from Brazil, continues to improve, walking most of the time without crutches now, and occasionally without his braces as well! He loves preschool and looks forward to kindergarten. We welcome any suggestions on toileting strategies. His hands and arms are not affected by AMC, but we have been told he is missing some pelvic muscles. Thank you so much for printing the picture and description of little Tami, the two-year-old girl with AMC in Brazil. We have had several calls from interested families. At this point, we are still waiting for the right family for Tami, but we are very hopeful as calls continue to come in. We will keep you posted. Now, another plea: Claudio was born June 20, 1990, in Brazil. He has good control of his head and trunk, with all four limbs and some mouth muscles affected by AMC. Although he doesn’t talk, he smiles and makes sounds. He sees and hears well and appears bright, understanding what is said to him. He scoots on the floor and grabs things with his left hand. He has had surgery on one foot and receives speech and occupational. therapy regularly. As you can see from the photo, he is beautiful. He is a sweet child who has no future in Brazil. If you or anyone you know would consider adopting this child, please don’t hesitate to call. Photos and video available. Thank you again for helping us find homes for these special children.
Naomi, our daughter, is interested in interconnecting with other teens and adults with arthrogryposis and learning more about resources and research. She was very interested in being put on your mailing list to receive the AVENUES newsletter.
Having a child with arthrogryposis is very frustrating when it comes to finding appropriate medical doctors. Our child is involved in her upper extremities only. We have been unable to find a qualified doctor with experience in tendon transfers (in order to gain elbow flexion). I’m writing in hopes that someone who has already found such a doctor will contact our family. I also hope anyone can tell us of the pros and cons of having such a surgery. Any type of input would be greatly appreciated.
I am writing to thank you for publishing this newsletter and to tell all of the readers of the surgery our son Cody (21/2) just had on 3/13/96. We went to St. Mary’s hospital in Richmond where his orthopedic doctor, Dr. Chester Sharps, did a muscle transfer in Cody’s left bicep. The muscle was taken from his triceps on the left side and moved to the bicep area.. We will not know if the operation was a success until the cast is taken off on 4/19/96. I do, however see a difference in the way Cody moves his arm and the way he uses his hand. I wanted to write to let everyone who has an interest in this, know how he is doing, and if any one would like to talk to us about the operation or how we felt about it, to do so.I am home most weekdays until 5:00 pm. and after 9:00 pm. Please feel free to call me. I love to talk about things and to hear what other people are doing to help their children.
Alyssa will be a year old in May and has been diagnosed with amyoplasia and arthrogryposis. She has a twin brother, Matthew, who is in good health and not affected. Dr. Judy Hall, a geneticist, could not quite diagnose Alyssa because she does not have the characteristic’s of amyoplasia, yet has little functioning muscle or tendons in her lower legs. She recently underwent club foot surgery and will have bilateral knee surgery in the near future. Alyssa has good upper body strength and has been able to pull herself along and keep up with her brother. We are thrilled with her progress and are confident that she will be able to do anything she wants to do in the future. I have kept in touch with several families concerning arthrogryposis, but have found none with similar problems. Alyssa has a very small tight jaw and only opens to 1/2 inch. I know a tight jaw is not unusual, however, Alyssa does not smile yet and seems to be lacking the musculature or tendons in the mid-portion of her face. She has many expressions and is able to make sounds with her lips/mouth, but is not able to smile. I would like to speak with anyone who has had similar problems and find out what is in the future as far as her jaw is concerned. Also, we are a little confused if we should seek out a Cranial Facial expert, an Orthodontist, a Neurologist, or all of the above. We are currently being followed by a Cranial Facial Team, but I don’t think they have ever seen any case like Alyssa’s. The only prognosis we are receiving is to wait and see. I am not happy with that, I need to know. Please feel free to contact me with any comments or suggestions.
I am fifty-nine years old and was diagnosed with mild AMC at age five, by Dr. Frank Ober, in Boston. My parents and our small-town physician in New Hampshire realized I would not outgrow walking on my toes. Dr. Ober did surgery to fuse my ankle bones and release my heel cords when I was ten. His clinic did follow-up until I was in my twenties and moved to California. My life was fairly normal until about five years ago. I kept a cane in my car in case of emergency. Now, after occasional episodes when my knees suddenly start to collapse, I can barely walk with two canes and must use a wheelchair for distances. My doctor referred me to Stanford Orthopedic Clinic for help with complications of AMC and aging. The doctor who saw me had never treated an adult. He took X-rays, referred me for neurological testing, and wanted me to go to Stanford Orthopedic Pediatric Division. I found that humiliating and inappropriate. Over the years, I have seen orthopedists and physiatrists from time to time. Whenever I go to a doctor for AMC, I am told, “I saw one or two children twenty years ago,” or, “I read about your condition in medical school.” The therapists where I go for pool therapy had only treated children many years ago. As I get older, I am frustrated by the lack of knowledgeable medical care available. Doctors and therapists are kind and willing—they just don’t know what adults need. We have such questions as: What therapies are appropriate to stay mobile as I get older? What should I do about complications I am experiencing? Is my case genetic? Can and should I have children? I seldom bother to seek medical help—what’s the use? People in their fifties and sixties have quite different problems from two- and three-year-olds. Why should I pay fees to a specialist who knows less of my condition than I do? The children currently being seen in pediatric clinics are growing up. Where are they going to get knowledgeable professional help? Again and again I see the same story: adults with AMC are referred to pediatric clinics, which do not have experience with older people with AMC and they are reluctant to seek help. Some have been refused treatment by the clinics which followed them as children and can find no other source of assistance. Please—do establish a clinic for adults with arthrogryposis. It is much needed.
I just wanted to thank you for what you guys did for my father. He was diagnosed with AMC, and as a child, he was told that his life-span could be expected to be eighteen years. Well, always a fighter, my father lived to be forty-eight years old. He passed away in 1993, only meeting five other people, personally, that had AMC. When he found out about AVENUES, it let him know that he was not alone. That really had a profound affect on his remaining years. I just thought that you might want to know that. I do not know if you have requests for this, but, if there are any children of AMC people that would like to have a “pen- pal,” I would be happy to volunteer. Again, thank you all for bringing some light into my father’s life!
After fifty years on this planet it’s still interesting to find new people to relate to. AVENUES looks like a great place to connect to others who have a similar tale. While not too sure of the medical jargon, I believe I fit into the category of distal AMC. Had a lot of surgeries as a kid at Shriner’s, not positive it was worth it. Sometimes children could be given a little more slack in the growing up process. As an adult, I had to come to terms with the medical establishment and its “fix-it” attitude prevalent in my childhood. Thirteen different surgical procedures—if I remember correctly. The pain caused by people with “good” intentions is still a source of confusion for me. On another subject, I’m currently an Adaptive Computer Specialist at a community college. I have found computers to be the tools of the trade for me in life and have been working with many different types of people with disabilities for over twenty years. I’ve worked for VR, private consulting, school districts and universities, etc. I’m a mouth- wand user (looks more elegant than the word mouthstick) and have researched most anything you might want to know concerning assistive technology. If there is any way I can help please feel free to contact me at the above e- mail address.
I spoke to you after my son was born with distal arthrogryposis. He is now two years old. Have you received any information on the genetic testing in Salt Lake City, Utah? I spoke last year with the doctor doing the research but have heard nothing since. I would be interested in corresponding with other families with distal arthrogryposis.
I’m writing AVENUES to let you know about my situation. I’m eighteen years old with a newborn baby boy named Jason. He was born with arthrogryposis. It is very emotional for me, being so young, but I feel I can pull through this. I have to for my son! There is one thing that has really been bothering me. I’ve read your newsletter and I haven’t come across one parent that has had their child walk normally. I feel that if I could at least talk or read about one parent who has had their child walk, I could look at this differently. Please help me find this one parent!
Our daughter, Molly Kate was born two years ago with arthrogryposis. She was affected from her neck to her toes. When she was born, her toes were by her ears . . . imagine sitting on the floor, spreading your legs out, and trying to touch your chest to the floor . . . that was the position she was in when she was born. Her head was turned to the right, and her elbows were contracted, and her hands were in tiny fists. Need I say: this was totally unexpected! We had no idea. Let’s just say that we don’t go to that OB- GYN practice any longer! Therapy started on day two with a hot pink cast that went from her hips to her ankles and from her shoulder to her hands. Her contractures worked themselves out so that she went through almost three full sets of splints the first week. I was so proud! Then I saw the bill! Her progress has been tremendous. Thank God for the fine people we met at Child Development Resources in Williamsburg, and our terrific therapist, Kim Wesdock, at Children’s Hospital in Richmond. Through all the hard work of those great people, Molly has come so far from when she was born. The people at the NICU didn’t even recognize her! First the “Can’ts”: Molly has low muscle tone from neck to toe. Any muscle she has, she’s built up herself. She still can’t walk, crawl, or pull herself up to a sitting position. Now, the “Cans”: Boy, can she roll and navigate! She can get from one side of the house to the other faster than you can imagine. Her leg contractures are virtually gone, and her elbows are somewhere around 130–150 degrees. She has the longest, thinnest fingers I’ve ever seen (is piano in her future?) She can talk a lot. Now we ask for your readers’ help: Is there anyone else out there whose AMC was caused by Congenital Fiber Type Disproportion? This was determined through a punch biopsy at the Medical College of Virginia with Dr. R. Leshner. Her Type I muscle cells are smaller and more abundant than they should be. If you or your child has CFTD please e- mail us. Two things are up with us that we could use some advice with:
I also have two things to offer out:
Plus, has any reader had multiple children (siblings) with AMC? We’re desperate to know. Your newsletter is such a blessing. Our first therapist, Kim Wesdock at Children’s Hospital in Richmond, was/is a specialist in AMC. She passed your newsletters on to us. When I found your homepage on the ’net, all of a sudden I felt less alone. It’s good to know that, in a world of typical babies, there are other families who know what we’re going through.
Hi! My name is Jeff Hoy. I had a son with AMC; because of it he had to have a feeding tube. We replaced this with a G- tube, which we later replaced with a MicKey button. During the operation to place the button, the doctor misplaced the tube, and Chris subsequently died. We are now trying to find some info on the MicKey and documentation on the proper procedure for installing it as support for a malpractice trial. Any information you could help me with would be greatly appreciated.
I have recently learned of your newsletter from
Gina Loren. My daughter, Crystal was born with AMC. She is now sixteen
years old. She is treated at Florida Elks Children’s Hospital
at Umatilia, Florida. Crystal has always been a very happy and independent
child. Crystal uses no special adaptive equipment to write or use
the computer. She is a very bright child. Most of her classes at
school are gifted classes. She learned to swim at an early age.
She also learned to bowl. She has many bowling plaques and trophies,
including bowler of the year. I would be interested in corresponding with anyone and sharing what information I have on how Crystal has been able to accomplish all that she has. I would also be interested in speaking with any young women who have AMC. Who have married and raised children and the problems they may have encountered.
I am a twenty-one- year- old journalism student with AMC at the University of Missouri at Columbia. My condition affects my arms and legs. Since I can’t use my arms and hands, I do most everything with my toes. I also use a power wheelchair. I am in my third year as a student at MU. So far, I’ve been able to complete the requirements for a journalism degree at one of the most renowned journalism schools in the country without many problems. The school has required me to work as a reporter, an editor and a designer at the Columbia Missourian, Columbia’s daily newspaper. I’ve also been successful in hiring personal care attendants and to adapting to life with my family six hours away in Kansas. This year I moved off campus into an apartment with three other students, and this summer I will be working as an editing intern at The Arizona Republic in Phoenix. As I approach graduation, I would be interested in talking to others with AMC who have adapted to life in the “real world.” I’d like to know more about finding attendant care, accessible housing and transportation in larger cities. Also, does anyone know about wheelchair accessible driver’s education programs? The fact that I cannot drive a car is one of my largest obstacles right now. I’m also interested in having children someday and would like to learn more about pregnancy with AMC. Also, if anyone has questions about adapting to either college or a career in journalism with AMC, please let me know.
My daughter, Samantha, has just turned one year old. She is a beautiful, active little girl who loves people and loves to laugh and yell. At birth, she appeared to have thumbs that were buried in her palms and kept her fists tightly closed. Her feet appeared to be somewhat stiff, although at the time is was thought to be a result of the lack of space in the womb. One year later, two surgeries to repair Congenital Vertical Tali in her feet, and splinting of Samantha’s hands, I am happy to say the our little girl seems as “normal” as any other. We did not have a diagnosis for Samantha’s condition until her second surgery. The diagnosis is that of Distal Arthrogryposis and is thought to be extremely mild. Her doctor’s feel that the combination of treatments that we are pursuing will provide Sam with a very bright future. At the time I originally contacted you by phone, I was both relieved to have a diagnosis and desperate to understand more about her condition. Your advice and the packet of materials have empowered me to seek out specific answers to my questions and to make me a much stronger advocate for my daughter. Mary Anne, I thank you for your suggestion to seek out the Arthrogrypotic Clinic at Children’s Hospital of Seattle. We are taking Sam up there on May twenty-ninth and have two days of appointments scheduled. My husband and I are very optimistic about the future for our daughter. I am excited to hear what the doctors at the clinic have to say. This afternoon we are visiting Samantha’s orthopedist and will be thrilled to show him that three weeks after the removal of her casts, our little girl is taking steps at walking with her AFOs despite his opinion that her walking would be delayed! Thank you from the bottom of our hearts for providing us with information and support in dealing with this condition. You have given us the gifts of knowledge and hope that no amount of thanks can ever repay.
Hello, my name is Victoria and I have a thirteen-month-old little boy named David, with AMC. David’s arthrogryposis affects all four limbs. His arms cannot move at all and his legs are in an upside-down “u” position. I am so grateful for finding out about AVENUES. Since getting your packet of information, I feel the world has been opened for David and I. I would love for families to write to me so we can share information.
I am writing to you regarding my daughter, Jocelyn Justina Williams, born June 4, 1995. When she was born, the first problems we noticed were her hips were out of place, she had an extra big toe on the right foot, and a two-vessel umbilical cord. After a few weeks, we noticed her hands stayed clenched. After a chromosome analysis and many, many visits to hospitals, she was diagnosed with arthrogryposis. She is now 111/2 months old. Her extra toe was removed at six months of age, but her foot is similar to a club foot. She also has a leg-length discrepancy on that same leg. Her hands have come along way, although her middle fingers still stay bent. Through early intervention and PT and OT, she has come a long way (especially the AFOs and therapy on her hands). We have been to many doctors and they have never seen a case of arthrogryposis so mild. How alone I felt until Shriner’s Hospital gave me some of your newsletters! Although her case is so mild, it felt so good knowing there are other parents out there who are going through similar situations. She also has a very short stature, which is significant with this condition (twenty-five inches long at 111/2 months old). She has two brothers who spoil her terribly! They are in perfect health. I would like to hear from anyone whose case is similar, as the doctors have never seen a case so mild. I have realized through this troubling year how special we parents are to have these special children. God bless the children!
I’m curious as to how many of the mothers of children with AMC had taken fertility drugs and/or gone through a fertility procedure prior to pregnancy. My wife, Maria, had taken fertility drugs prior to a Gift procedure which resulted in twins, a boy with AMC, and a girl who is healthy.
I am a twenty-four-year-old affected with AMC. I just recently became aware of AVENUES and I have enjoyed reading about other peoples’ experiences with arthrogryposis. I have only known one other person with AMC and that was my older brother who unfortunately passed away in 1990. Most people I talk to have never even heard of arthrogryposis which often leaves me feeling isolated. I guess I could be considered as having a moderate case. All four of my limbs are affected. My arms are contracted into a “bent at the elbow” position and my hands are contracted (I have a little wrist movement). When I was younger, I was given the option of surgery to straighten my arms, but refused because I’ve learned to manage quite well. Even though my hands are contracted, I have very little difficulty picking things up. I even do crafts such as counted cross-stitch. I cannot bend at the hips or knees a whole lot. This makes sitting difficult so most of the time I stand. I can walk unassisted (but use a wheelchair for distances). I can’t climb most stairs. I have had surgery for my club feet and also had a spinal fusion. Unfortunately, the spinal fusion didn’t help my scoliosis., At the age of twelve, I had severe respiratory problems and had to have a trach tube inserted and put on a vent. To this day, I still have the trach and must be on the vent part of the day. I have been in the hospital more times than I can recall over the past thirteen years with respiratory problems (sometimes very severe), but I always manage to bounce back. I always attended regular classes and graduated on time despite all I’ve been through. I am currently taking college courses to become a clinical social worker. I also do volunteer work in nursing homes. I would very much like to get in touch with others my age (any age is OK, too) who have AMC whether or not they are affected in the same way.
We have been active advocates for disability issues for years. We lived in the Denver area for many years but when we moved to Shasta Lake, CA, we lost most of our contact due to the small rural attitude here. Now with our computer we have found a new world of contacts. We are most interested in researching grants for new programs for home employment and education. Due to her disability, Beverly was pushed around and finally out of the public school system and was never able to finish her education. She raised three children, one profoundly retarded and physically disabled due to a car accident. She learned to change diapers and do dishes with her feet and used her inventiveness to get things done. I met her twenty years ago, shortly after losing my right leg to cancer. We got married in 1988 and became a very powerful team. With the three disabilities to deal with in our family, we have a lot of experience in a lot of different disability issues. We hope to be able to do some good in this world now that we can communicate. If we can be of any help to your endeavors, please let us know.
Hi! My name is Lawrdel from Rigby, Idaho. I am twenty-eight years old and have a mild case of AMC. Growing up with AMC, my parents were protective on what I could do as helping them around the house until, at the age of seven, I picked up a hammer and hammered in a nail to a board. From there on they put me to work around the house. After that, the quote was I’ll try everything once before I give up. In sixth grade, I decided to sign up for a sport called wrestling. I wrestled through twelfth grade. I’ve gone through three years of college and got a job with the government doing adminitive assistance. My family now includes a boy at 21/2-year-old and one due in November. It has been nice to know that there are people around the world that understand what AMC is like. I feel that no one including the doctors knew how to act or treat me with whatI have to go through life. Hope this helps with the young group of people that have AMC: never give up!
I found the most special woman in the world and married her almost three years ago. There has recently be a new addition to our family “Adam Noah,” born June nineteenth. For most of my adult life, I was concerned about the possibility of passing AMC on to my child. Adam was born healthy, strong, active and AMC free. I still don’t know what the genetic chances are, but for Adam, this is one issue he won’t have to deal with. Anyone with questions, please feel free to contact me.
I am twenty-eight (twenty-nine next month) years old and have AMC. It wasn’t until last month, when we put the Internet on that I found that I was not in a minority group! For most of my life I was of the belief that this condition affected a very small portion of the population. My husband and I looked up AMC in the medical databases and found the one and only reference, that being a support group in Ireland. I promptly wrote my life story and even more promptly received a reply from a lovely family in Dublin with their two boys aged seventeen and fifteen affected. The mother sent me more information than I have ever seen before. I don’t know why it took me this long to actually find out about my condition but here I am, neck deep in reading material and corresponding via e- mail. Isn’t modern technology wonderful? Anyway, like I said, I have never met, nor seen, nor heard of anyone ever having this condition and back in 1967, when I was born, very few people had heard of it also. I was promptly taken to the closest major city—that being Melbourne and was attended to by the well- known Dr. Peter Williams of Melbourne Royal Children’s Hospital. He has now retired, I am told, but he was an amazing man who I was always scared of! Seeing him always meant another surgery. One thing led to another and I corresponded with a number of people on the list that I was given from Ireland of addresses for major support groups. England was the first to reply to my letter with wonderful brochures and information. To my surprise there was an Australian group too, who also replied. There are only sixty members here, but they say that a lot of cases are incorrectly diagnosed so those numbers may not be a good indication of the real number of cases. Anyway, I am one of those cases. I guess this whole thing has just blown me away. The number of people affected and the differing degrees of severity is amazing. I guess I never really bothered to find out all that much about AMC as I am an extremely well- adjusted, happy and very functional person and the way life was presented was the way it was received. I am still in the process of being able to have access to my medical file as I am not sure how many operations I have had and the types of operations they were and for what purpose, so I can’t give you many specific details—yet! I only that my AMC is confined to my upper limbs only. I was born forcep delivery, after about twenty-three hours, breech with two black eyes. My mother was seventeen at the time of my birth and being so young must have been difficult as my parents didn’t have the network of support that is available today. It would have been a shock for them being so young. My father had a minor accident in the car on the way home from the hospital from the shock of it all! I had full fixed extension on both arms, rolled shoulders and inward turning hands and wrists all fixed. I have never had physical therapy so my arms and hands are in a fixed position. We lived in the country and the nearest center where the surgeries were performed was six–seven hours away in Melbourne Royal Children’s Hospital. I have had several surgeries, the first being the fixation of arms in a 90-degree angle, a rod inserted into my left hand, and a finger extended which was tucked under my right hand. I have had muscle transfers which did little but give someone a better knowledge of the internal workings of an AMC patient. I have also had many splints (mainly to see how I would cope with a wrist in a fixed extended position). These were very painful and usually abandoned particularly on the right hand. The left hand extension has allowed me to be more independent—picking things up is easier and dressing (it also gave me a job as a typist—I’m not sure if they didn’t have that in mind when they did it). My feet are my godsend as they do the heavy and sometimes difficult duties like bed-making, door-opening, jar-opening, lifting, pushing, undressing, ho- hum ’cleaning’, tap (faucet) turning and nearly everything else that requires the effort of hands (feet). My mother cannot recall how many surgical procedures there were, after a while you lose count especially when we are talking some years ago now. I had the last AMC related surgery at about the age of twelve. Hopefully, soon, I will have access to that file and be able to fill in the blanks. The main thing that Mum was told was to do was to make sure she did not help me too much. This is probably a normal thing. I actually find myself doing it with my own children. It makes for extremely independent children with a will to do all and everything. This does not mean she didn’t suffer watching me struggle through dressing, etc. But in hindsight, it was the best thing to do. My advantage though was that my legs and feet were perfectly formed and they were my asset in the periodsof struggle to come. I scooted around on my bottom before walking and my balance was great, I used to stand from a squat position with no assistance from my arms at all. My children do this as they have never seen it done any other way! I attended preschool at age three and, although I never liked to be far from Mum, it was good for me. At the age of three, you are very sensitive about everything and toileting was something I couldn’t manage without help so I liked her to do it over anyone else! I never really learned to cope with that personal aspect until I was about eight and even then clothes were a problem sometimes. I went to a regular school where the teachers were helpful. But, it is amazing how there are the terribly cruel and the terribly wonderful children. I always attracted the helpful ones, the children who were ’aware’ without knowing it and I always had lots of friends. In the early stages of school, (about age six) friends used to help me go to the bathroom (mainly helping to undress) and I always tried every sport and amazed myself at the ones I was good at. Looking back, there were moments of anguish for sure, but there were also ones of triumph. I was good at school, sometimes better than others, although my skills at math have always evaded me! I was good at sewing, reading and comprehension. Just to let you know, sometimes I didn’t tell Mum and Dad what had happened at school if it had been bad—I was never one to complain. Once I was punched in the eye by a horrible little boy for no reason other than I was different. He knew he was doing the wrong thing and if I wasn’t so scared of him, I probably would have ’dobbed,’ but I coped with it. I think I may have even faked a few illnesses shortly thereafter but he didn’t do it again— luckily. I guess I just didn’t want to upset anyone or get anyone into trouble. I think this would be a pretty normal response. Although I was always told never to use my disability as an excuse for anything. After a period of adjustment, I really liked going to school, but the initial entrance and being on my own was scary. Now- a- days they have special programs in schools with ’helpers’ and I think this could have been good for me in the younger years of primary school (kindergarten to year six). The period of adjustment to high school was also scary. PE scared me the most because I was so competent they expected me to manage like the others but it was the undressing in a hurry to get to another class that worried me. This fear was also overcome once Mum put a zipper down the whole side of my uniform so I could get out of it. We made a lot of adjustments to clothes, etc. Velcro was put on a pair of shoes for me before Velcro came out on the public market, I think. An old boot lacer (usually found in antique shops) with a small hook on one end and a large loop on the other, did up zippers and the hook dragged buttons through button holes. I still use this sometimes. Putting on runners with elastic threaded through and tied like laces solved the problem of constantly asking for them to be done up. I use my teeth, walls to lean against and my feet to dress, but this honestly didn’t fully evolve until I was about fifteen, Before that I struggled, did it alone, but struggled. Now I think of the easiest way to do things. I often buy clothes a little larger and look at the styles. I never buy back opening and closing items. Luckily my feet are very strong. They pull on and off clothes, pull on shoes (one foot puts the sock on the other then the shoe then that completed foot helps pull the other sock up to the heal (in a dragging motion). I pull it over the heal and slip the other foot into an already done up shoe (something mothers hate—not undoing the laces!). There is a method for everything. Luckily now there are a lot of things on the market which can help and you just buy them straight off the shelf. I still don’t usually eat steak out at restaurants, though. I am not strong enough to cut it without a serrated edged knife—I have really good ones at home which I use and cut with. But to save asking for a special knife, I usually order something that I can cut up. I have never liked to make a fuss and I stick to the things I know I can cope with and don’t like to make a scene. As I said, growing up I always had a lot of wonderful friends. I’ve played racquetball, went to “Brownies,” played the electric piano (not with lessons, just alone). I think this was good therapy for the fingers actually—not unlike my typing today. I rode horses, was a mad roller-skater, and did everything my friends did. Swimming was interesting. At the age of fourteen, my girlfriend taught me how to swim in her backyard pool—that was a real achievement (I can not swim underwater, though—my balance is off somewhere there). I was always scared of the unknown though and it usually took a few attempts before I had the confidence to do it well but I always tried. My parents never said I couldn’t try anything and let me experience everything even if it meant failing. Realistically, though, there have to be bad days. At the age of thirteen, Mum noticed while hemming a skirt for me that the hem was lopsided. Yes, scoliosis in a big way. At the age of sixteen, going seventeen, I had a spinal fusion to correct a bad double curve. I really didn’t have much pain with this before the surgery but it was a good two inches out on one side. They fused five vertebrae at the bottom of the spine in what is called a Dwyer’s Fusion. I spent one month in the hospital, six months with a body cast, and the twelve months of my eleventh year at school doing correspondence. My parents installed a bidet and the whole thing was annoying more than painful. I still get a lot of back pain—just another thing I deal with—but I shouldn’t and don’t usually, wear high heals, or stand up for too long or sit for too long without moving around. It wasn’t until I did some investigations about AMC that I realized that scoliosis comes with this affliction in 5% of cases. They told me that when I had the spinal surgery that I would probably have to come back in ten years for more—we are now eleven years doing well and fingers crossed! I went back to regular school and completed my high school, boogied at nightclubs, danced with strange people, travelled alone, lived in a flat with a friend, worked in a different city, applied for jobs, and got them surprisingly easily, travelled overseas and loved it all. I have snow skied, completed secretarial school for one year, worked as a typist, word processor and legal secretary for four years, married, had two beautiful healthy girls, Hannah and Madeleine, aged four and two (there are a few interesting ’coping’ stories there if anyone is interested!). I garden, cook the best muffins and do my own housework (reluctantly). I love doing cross- stitch and they are all over my house. I have a wonderful husband, I am a preschool management committee secretary, work casually at a local hospital as a booking clerk/telephonist. I’ve done a lot of things all which I am proud of. I have never let people’s thoughts worry me and have a super self-esteem. This partly due to my parent’s attitude as I grew up and the community and environment in which I lived. There are only 60,000 people in Wagga now and I’ve been living here most of my life. We were a lot smaller than 60,000 when I was little and it was a real ’town’ then. I think this personalized community really helps. People still ask me if I am thalidimide [victim]. I guess this is a product of a time when people with disabilities were not seen. We are out and about now and it helps with public awareness if I can explain what I have and also to think that I am not relatively alone like I thought two months ago. My own child was staring at a girl in a wheelchair the other day and I had to explain to her. Even my own children don’t see a difference in me—yet! There are probably specific questions you would like to ask—go right ahead. I have had several things modified especially for later in life. There is one thing I don’t do and that is drive. But then, I’ve never tried to get my license! As I said, I have a method for everything! Something may be of use. I feel that I could be a great help to someone especially in the ’baby’ field. I have acquired a lot of new skills as a result of motherhood. I will reply to all letters.
You provide a wonderful service for parents. It is been my experience as the mother of a special-needs son, now grown, that parents can use information about getting along with schools, and about getting the best education for their child during the years he or she is in school. I have spoken to parent groups and parents are still saying, “The school says they cannot provide this or that, and we don’t know what to do about it.” With the help of AOL and the Internet, I can help parents work through the maze of regular and special education. I’d like to offer this service for parents . . . if I don’t know the answer for obtaining the best school services or for working with the school system, I have access to resources who do—a number of periodicals about special education and law, and some local sources. Don’t worry—it is not my intention to sell my books to parents (although I expect some parents may have read my articles about families with special- needs kids). I recently published two books for parents, one about working with schools called Optimizing Special Education: How Parents Can Make a Difference with Plenum in New York, and My Child Needs Special Services; Parents Talk About What Helps And What Doesn’t with Mills & Sanderson in Bedford, MA. About ten years ago, I published a glossary of special- education terms for parents. This book is still listed with the Learning Disabilities Association in Pittsburgh, PA.
We found this great trapeze play- quilt at the toy store for our son. It had two criss- crossed flexible poles, like the kind in easy set-up tents, that fit into sockets in the corners of the small quilt and crossed over top of the baby lying on the quilt. We hung toys—jingly ones, rattles, squeak toys, soft toys, teethers—from the poles. The toys hung down, and our son had to reach for them, or roll over to them, as best he could, in order to get to them. It really made him stretch.
Hello, my name is Melissa Morris, and I am a sixteen-year-old girl with arthrogryposis. As you know, arthrogryposis is not a very common disease, and I am interested finding other teenagers who deal with it. Actually, I am interested in finding anybody who I can correspond with that has this disease.
Thank you for your wonderful publication! We have written to you several times and appreciate all the feedback we have received from other families. We are wondering if anyone out there has had any success with TES (Therapeutic Electrical Stimulation). This uses traditional therapy, computerized muscle stimulation, and biofeedback therapy. Please contact us if you have anything to share.
We wanted to write and let you know of a great new toy called “Radar” (he’s a robot!). He is completely voice activated and is geared for ages 4–8 years. Well. . . with arthrogryposis children, ages 3–8 or younger! This robot plays educational games, sings, and really is a “pal” to our daughter, Nicole. Kudos to Fisher Price for making Radar—he retails ar approximately $50.00—well worth it for the child who has limited his or her hands. They had us in mind! Wanted to pass along this great idea to families with young children with AMC.
This is to give an update on our son Luca. We have some of the information could help other families. Luca was born twelve years ago in Montreal, Canada. He was diagnosed with atypical arthrogryposis because his condition was limited to the part of his body below both his knees. It looked more as he was born with major clubfeet. He also had weakness on his scapula muscles blades. Originally, he was followed at the Shriner’s and Montreal Children’s Hospitals and subsequently at the Marie Infant and St. Justine Hospitals. He had two surgeries for release of tendons at the ankles and the knees when he was eight months and three years old. We now live in the US (since July, 1989) and he is followed at the DuPont Institute in Willmington, Delaware and at the Children’s Hospital in Washington, DC. Since 1993, he has been followed for a development of scoliosis. His measurements went from 29deg. deflection in January, 1994 to 61deg. deflection in January, 1995. In February, 1995, he had an MRI of the spine and it was discovered that he had a tethered spinal cord. We made the decision to have only the untethering done first and wait one year for the eventual scoliosis surgery. His measurements after the untethering surgery that he had at the Children’s Hospital in DC, in April, 1995, went down to 41deg. deflection. Now his latest measurements are between 49deg. and 53deg. depending on who reads them. His recovery was so impressive that the Children’s Hospital has put him (since September, 1995) on a program of electro-stimulation at night to help build those muscles on his legs which never developed. The results are incredible. He now runs on a treadmill with 11deg.-angle at one mile-per-hour for eleven minutes. He was doing forty seconds before the surgery. You can now feel some calf muscles. He can move his feet and toes slightly, something he was unable to do before the surgery. My recommendations: In the event that you have a young child with limited atypical arthrogryposis try to have him evaluated with an MRI of the spine. Do not wait eleven years because the muscles will atrophy. If scoliosis starts to develop, the MRI is even more recommended. Do not rush on the surgery for the scoliosis. If the child has tethered cord have the untethering surgery first and try to wait for the scoliosis surgery. If any body is interested in the electro-stimulation at night, please contact Doctor Karen Pape in Toronto at (416) 733-1783. Dr. Pape has been working and developing the technique and training more then 200 doctors in the US. My questions: Does anybody who has experienced a similar situation have any recommendations? Also, we are now very confused by the different opinions received by highly qualified specialists regarding the scoliosis surgery. Some recommend immediate surgery, others recommend to wait the longest possible time to help the child in his normal growth. Any suggestions out there?
Our second son Simon was born nine weeks ago with AMC. We are still a bit under shock but the load of things to arrange keeps us busy currently. What frightens us most at the moment are his severe breathing problems. Many times he has gotten blue in his face already and we really feared to loose him. It has slightly improved meanwhile but when he has to cry his breathing still becomes chaotic. We are just now about to change our physiotherapy from Bobath to Vojta method (suppose these are the common ones in the US too?) and wonder if there are cases where the breathing was improved by Vojta- therapy as well? In principle we are very happy about Simon’s advances in movement and flexibility and we are really confident that he’ll be able to live a happy life. One thing we can report back from our German self- help group (Interessengemeinschaft Arthrogrypose - IGA) is related to Diane’s previous mail. In the IGA they have some adult AMC- affected persons. They say that now where they are “older” they have to do their physiotherapy training very regularly as their physical condition deteriorates faster than it does with ’normal’ people. But practicing every day allows them to keep their condition at the same level.
I am twenty-nine years old and live in New York. I’ve been very fortunate in my twenty-nine years in that I had some of the best doctors who stopped at nothing in trying to give me maximum function of my hands, feet, and legs through corrective surgery. The only thing I never had was someone to talk with who was going through the same things. Although I’ve gone as far as I can in terms of corrective surgeries, it’s never too late to find someone who has experienced the same things. It’s still kind of strange for me to think I am writing to a support group for arthrogryposis when so few have even heard of it, including many health professionals. I am interested in getting in touch with other people from New York who have arthrogryposis. I’d also be interested in hearing from anyone who has undergone total hip replacement, specifically anyone whose hips are dislocated and has also had scoliosis surgery.
Hello. I have some information to share since the last time I wrote AVENUES. I have received a large amount of phone calls and mail regarding a “dressing stand” I wrote about which I saw at the Arthrogryposis Clinic we attended at Seattle’s Children’s Hospital last January. I referred people to the OT there who had it in her therapy room, but many of you reported to me you never got any response. I now have a photo and dimensions of this “dressing stand” which is very simply designed. It is a simple device with a rectangular piece of plywood base 2 1/2’ X 3’ that aids in dressing and is wheelchair accessible. Anyone interested in it may write me and please include a stamped, self- addressed envelope and I will send you the directions and a picture. Recently, my daughter received a totally new type of hand day- splint at age three. It is designed by an OT here in Washington. Her name is Nancy Hylton and she works at Children’s Therapy Center in Kent (206-854- 5660). They are made of a new material called polypropylene, a very flexible, light weight material that allows freedom of movement to her fingers and wrist but the material does not become misshapen and will snap into correct position while the fingers and wrist are not working. Nancy did a complete arm casting which enables her to remake and adjust new splints for Josepha without her being there. From the mold, the splints were made through Cascade Orthotics, also in Kent, WA. I have photo’s taken by my daughter’s OT of her in the splints from different angles, and also her using her hands with them. Anyone who may be interested in these, do not hesitate to call Nancy or myself, or send me a stamped, self- addressed envelope and I will mail you copy of the pictures of the splints on Josepha. Josepha, now age three, is doing wonderful. She underwent the school district testing for evaluation into the developmental pre- school and tested 99% in fine motor and 95% in large motor. She didn’t qualify, but my husband and I knew that she needed the program because the pre- school is the “place” forchallenged children to learn adaptive measures to prepare them for kindergarten. We disputed with the school board over our belief that any standardized testing cannot possibly include every individual and their type of learning disability or need. They agreed to pay for another evaluation by a private OT. In the meantime, we enrolled Josepha in the developmental pre- school program, as an integrated child, taking a second job to pay the $200 monthly tuition fee. The results of the second evaluation, strongly recommended the pre- school for Josepha stating that it is the proper place for her to get the proper attention in learning adaptive measures prior to entering school. This was one of those situations where we parents need to advocate in our child’s best interest. Standardized testing is just not a cut- all for all. We hope that if enough people come forward and do the same, the schools will change their methods of only one type of testing, and begin to meet the needs of all children. Josepha has been accepted into the program as it should have been all along, and for this, we are happy.
We are the parents of a five-year-old little girl who has arthrogryposis, specifically:
Her doctors will not say she is mentally retarded, in my heart I know she is. This makes it hard to deal with because we are increasingly disappointed with her slow rate of development. When she was almost four, she was diagnosed with a seizure disorder. It made perfect sense to me that there was indeed something wrong with her neurologically. You see, since she was about eighteen months old, she had been having severe temper tantrums. I called them “crying fits.” My opinion was that there was something wrong with her, preventing her from handling strong emotions constructively. Many times the crying fits seemed not to have been provoked by anything at all. Her pediatrician and others assured me this was normal toddler behavior, but I knew better. All along, all the doctors stressed to us that there was nothing wrong outside the contractures, physical therapy would help her overcome the developmental delays, thereby catching up. It’s a different story now. Elyssa Rae is a beautiful, delightful, resilient girl. I need help, advice, information, from other parents or people who actually have this condition. I feel so alone and emotionally exhausted.
Could you please add my name to your list of occupational therapists interested in arthrogryposis? Dawn Chaplin is no longer with Children’s. I am very interested in all aspects of arthrogryposis, especially splinting, adaptive clothing / equipment, and upper extremity surgeries. Surgeries include tendon lengthening, muscle transfer, etc.
I am writing to you on behalf of a student of
mine who has arthrogryposis. He currently attends kindergarten with
supportive physical therapy which I provide. Over the last eight
months, we tried and attempted to get funded (through insurance
and then medical assistance) for a Permobile power wheelchair. The
Permobile product is very specialized. It allows independent power
mobility plus the seat lowers to nine inches from the floor (he
could safely and independently get in and out) and it elevates (similar
to a barber’s chair) to allow access to appropriate table
heights, light switches, counters, shelves, etc. Unfortunately,
funding sources do not see the lowering/elevating seat as medically
necessary and have denied payment for this option.
I am a clinical geneticist who has recently started work at Southern Illinois University School of Medicine in Springfield, Illinois. I have a patient, aged two years, who has multiple pterygium syndrome (Escobar syndrome). I am unable to locate a support group for this syndrome. I would welcome any information from your members on any kind of help that is available for parents of these special children. I would also be interested in hearing if there are any individuals in your organization who carry the diagnosis of multiple pterygium syndrome who live in the Illinois/Missouri area.
Hello! We are a new Spanish association located in Malaga (South of Spain). You will understand quickly that we associate those people who have children with arthrogryposis multiplex congenita, doctors interested on it and some other people who support our group. We should like to collaborate with your association and with all those that are working in the same direction. Our Internet address is http://www.vnet.es/artrogriposis. Let us know how we could work together.
Just wanted to let you know that we are finally on-line. So, if there are any questions for our group, please feel free to pass them on to us. It has always been one of my dreams to start a mentor program so that children growing up with AMC would always have someone to look up to and turn to for advice. We started the program this month and are still getting organized. We do, however, have a need for more AMC adults to be mentors. If you, or anyone you might know, might be interested in being an AMC Mentor, or you might know of a child and family that might like to have a mentor, please e- mail me and put “AMC Mentor Program” in the subject. AAA Guide For Disabled Drivers Charitable Air Medical Transport System
in Place There are two national charitable programs that should be known by every medical organization, every health care worker and every family with a rare disorder patient. These are: The National Patient Air Transport The “special lift” air medical transport program operated in conjunction with the NPATH HOTLINE. Sponsors of large-scale disease research or experimental treatment programs can take advantage of this program which will manage and coordinate the air medical transportation aspect of the special project arranging to move large numbers of patients to and from special research or treatment facilities, one at a time, as required—via charitable means—nationwide. Parents of Children with Special Needs:
How to cope with the present and prepare for the future If you or someone you know wishes to have further information on any of the above subjects or wishes to schedule a seminar for their organization, please contact Nadine or Doug Vogel at: 310-470-0796. “As professionals and volunteers working with children who have a wide range of physical and developmental challenges, we welcome calls or letters from other families who wish to ask for information or friendly support. As parents of a beautiful little girl who has many special needs, we truly understand how overwhelmed families may feel.”
International Children Awaiting Adoption If you’d like specific information on these children or have any questions please contact Norina Giri at Children’s Home Society of Minnesota located at 2230 Como Ave., St. Paul, MN 55108, 612-646-4414 ext. 209. There are brochures available detailing the requirements adoptive families are expected to meet for each country with Waiting Children. New Book Helps Disabled Find Computer
Resources Now a new book, Computer Resources for the Disabled, lists sources that will help when acquiring, financing, funding and using computers. In addition, it covers grants, programs, services, technology-related assistance, where to purchase computers at a discount, and information about companies that produce special computer-related products. Many other computer resources for the disabled are also included: books, newsletters, directories, health-related BBSs, free BBSs, 800# BBSs, and major, hard-to-find health-related Internet and World Wide Web sites. It was written by Helen Hecker, R.N., author of many books for the disabled, including the Directory of Health, Medical and Disability Sites on the World Wide Web and Internet, and founder of the Disability Bookshop Catalog and the Disability News You Can Use newsletter. Computer Resources for the Disabled can be ordered for $19.95, (or for the blind or visually impaired, $19.95 on audio cassette), plus $3.50 shipping, from Twin Peaks Press, P.O. Box 129, Vancouver, WA 98666-0129. For more information call 360- 694-2462. For credit card orders only call 800-637-2256. Or Fax 360-696-3210 or e-mail: 73743.2634@compuserve.com or visit on the World wide web at: http://www.netm.com/mall/infoprod/ twinpeak/helen.htm. Sunshine Foundation
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