|
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| newsletter: vol. xvii, no.1, January, 1996 Contents:
The Children’s Hospital and Medical Center of Seattle will be holding their Arthrogryposis clinics for 1996 on the following dates:
For appointments, contact Shannon at 206-526-2180. For information on the clinic, call Lyn Sapp, clinic coordinator, at 206- 526-2000. Muscular Dystrophy Ireland Covers Arthrogryposis The Muscular Dystrophy Society of Ireland provides advice and support services to those “with all neuromuscular conditions including the motor neurone diseases and spinal muscular atrophies...and myopathies such as arthrogryposis.” (From MDI’s home page on the Internet). MDI can be contacted at: Muscular Dystrophy Ireland, Head Office, Carmichael House, North Brunswick St., Dublin 7, IRELAND, Telephone: (+353 1) 8721501, Fax: (+353 1) 8724482 or e-mail: mdi@iol.ie. Arthrogryposis Meeting Planned Gabriele Hendrichs, who has been monthly holding “chats” on America On-Line for those interested in arthrogryposis, is organizing a meeting as well. The tentative date is August 1-4, 1996, in Memphis, Tennessee. If you are interested in attending, contact Gabriele at 1507 Alabama Ave., St. Cloud, FL 34769. Her fax number is 407-957-7880. Gabriele can be reached on-line at GabyH@aol.com. AVENUES now has a home page on the World Wide Web. It can be reached at: http://www.avenuesforamc.com. We have the current issue of the AVENUES newsletter, general information on arthrogryposis, listings of Support Groups, etc.
I have just returned from Nemours Children’s Clinic getting the results of our six-month-old son’s hip MIR. The intention until now was to schedule hip surgery in the coming months based on a previous sonogram indicating it was necessary. However, the MIR clearly shows his hips are in their sockets, and surgery is not necessary. Billy’s is now to be a case study and warning to doctors/clinics proceeding with hip surgery based only on sonogram analysis. MIR on the hips must be done prior to any surgery performed. Please pass this information on. If you need any additional information, or would like to talk to our doctors directly, please call us at 904-464-1346 (my work) or home at 904-399-3826, or e-mail: surf@jax-inter.net. Muscle Biopsies: Are They Necessary? (part II)
I am responding to your July 1995 newsletter inquiry concerning muscle biopsies. I have a five-year-old son, Dustin, born with arthrogryposis. This is our story of muscle biopsies: Dustin was born 1-12-90 by C-section due to breech position. He was TTN (breathing distress) and appeared to have kidney problems along with physical problems of fixed joints. He was rushed to a larger medical facility 100 miles away. During his two- week stay at the neo-natal unit, he underwent many tests and was examined by several specialists. Dustin’s genetic tests were normal as was the EMG. He received P.T. and O.T. while in the hospital and I continued range-of-motion exercises at home with the supervision of weekly P.T. visits. I also read everything I could get my hands on concerning AMC, at one point shoving a copy of AVENUES under the nose of an orthopaedic surgeon who refused to prescribe physical therapy saying, “It probably wouldn’t do any good.” This comment frustrated me and we began to look for a new doctor. Our search led us to Memphis, Tennessee. We began seeing an orthopaedic surgeon who recommended no surgery for my son’s hip contractures due to the probability of dislocation and loss of muscle strength during the twelve weeks of casting. He also recommended we see a neurologist at the University of Tennessee. The neurologist repeated the EMG and NCV (nerve conduction velocity) tests with normal results. He assured us that he could give us an accurate diagnosis if he were allowed to perform a muscle biopsy. After much soul searching, we decided to proceed with the biopsy to finally get answers and put our minds at rest. The doctor said the muscle sample from Dustin’s right biceps as this was his weakest area. Two long weeks dragged by as we waited for the “final” diagnosis. During the four-hour drive, I mentally prepared myself for the very worst and practically fainted in the doctor’s office when we were told once again that the results were normal. How could that be? We questioned the doctor for over an hour and were reassured that although this test did not indicate the problem, it did rule out many diseases and disorders and would not need to be repeated. We were relieved and disappointed at the same time. We are still asking the question, “what is Dustin’s diagnosis?” So, to answer your question, “what new information can muscle biopsies give us?” our answer (based on our experience) is “none.” “Can a diagnosis be made without them?” Apparently a diagnosis cannot always be made with them. “Are muscle biopsies really necessary?” In our case I must answer NO. Not only did we fail to receive answers, but we now have even more questions.
I noticed in a recent issue of AVENUESa question regarding muscles biopsies. To my knowledge, muscle biopsies are not diagnostic of arthrogryposis. However, in the infant the diagnosis of arthrogryposis can sometimes be difficult. The use of muscle biopsies and other forms of neuromuscular testing can sometimes be beneficial in ruling out other types of neuromuscular disorders or in making a diagnosis other than arthrogryposis. The decision to do a muscle biopsy is dependent upon several factors including the clinical appearance of the child, any pertinent family history, and the availability of a laboratory able to do the appropriate testing on the muscle itself once it has been biopsied. From Families Around The World
I am a single mother to a wonderful 31/2 year old boy with AMC. I did not know of his condition until he was born, as with most people. By the way, his name is Justin. Justin was born with his shoulders internally rotated, elbows fixed in extension, wrists flexed, and his fingers very stiff and jumbled together. His hips were flexed all the way up to his head, his feet were also turned inward and his toes flexed. Aside from his physical impairments, he was and is a very happy and gorgeous little boy. This is my first and only child. Being a mother at the age of nineteen was a very big adjustment for me, not just because of the demands of motherhood, but the enormous responsibility of being a mother to a very “special child.” I would love to correspond with other families with an arthrogrypotic child or someone themselves who has arthrogryposis. I haven’t had the opportunity to see or speak with anyone in the same situation. I would also like to share any information I may have with someone else who might need it. Justin receives O.T. and P.T. through United Cerebral Palsy twice each week. He is also followed by Shriner’s Hospital for Crippled Children for leg braces, arm splints, and any surgeries for the future. So far, the only surgery he has had is the Achilles tendon lengthening which has enabled him to walk with braces called AFOs. He currently wears splints on his arms to keep his wrists in a good position. He is unable to feed himself because of his arms being fixed in extension. Which brings me to a question. I’m hoping there is someone (doctor, therapist, or person) out there who can help me find out information. I have heard of a surgery that can be done which will put one arm in a fixed flexion to enable a person to feed himself, groom, etc....If anyone has heard of this or has any information, please contact me at the above address or phone number. It is of great importance to myself and my son to get any feedback we can.
Michael is sixteen months old and has arthrogryposis in his arms and hands. I was twenty weeks pregnant when I found out about his clenched wrists. I had gestational diabetes and was on insulin. My first son, who has no physical disabilities, had a virus around my fifteenth week of pregnancy, and he couldn’t walk for one day because his legs were hurting. His CPK muscle enzyme was elevated. Then I got the virus infection. Doctors can’t answer what caused Michael’s condition but one thinks that it could have been the virus (polio-like). Michael is a wonderful, very good child. He’s very happy, always smiling and persistent. He crawled when he was twelve months and started to walk at fifteen months. He hardly had any movement in his arms at birth. Now he’s able to pick up toys, eat green beans, french fries, and rice cakes on his own at the high chair. His two thumbs and index fingers have movements but not the rest. He has slings/straps/velcro around his wrists and on the back of his high chair to help him with elbow flexion. He has no active elbow flexion and the doctors at DuPont (Delaware) say that he may go through muscle transfer surgery by age eight. if he still does not have any elbow flexion. Michael loves to walk now but he has no wrist extension and no protective response. My husband made a special harness to hold him up in case he falls. This harness prevents me from getting a backache. It took me a long time to share this information because I had no idea what to expect. Now that I see improvements in Michael, I have strong feelings that he’ll be just fine. We have been very fortunate to have his O.T. and P.T. who are very knowledgeable. It still hurts once in a while to think about his disabilities but I remind myself that he’s a very happy boy, bright and improving. I hanging on to all the hopes/dreams/prayers. I pray to God every night, thanking Him for my two babies as I had to go through fertility workup to have them. If anyone is interested in the harness, please feel free to contact me. I’d like to get some tips to help Michael with his protective response in case he falls. He uses a helmet during walking all on his own.
Hello! I am a twenty-nine-year-old with arthrogryposis.
I would like to speak with young women who have had children. Did
your child have AMC? Was pregnancy hard on your body? Were you able
to handle the infant? My husband and I would like to ask you questions
and gain insights you would be willing to share. Please write or
call. If your hands are hurting then just call-collect too, if that
helps. Are any of you exploring gene-therapy or fetal surgery? That
interests me too.
Our daughter Valerie is now three years old. She has made tremendous progress since we first wrote to you in 1992. She has had two heel cord surgeries and also had an open reduction of the right hip. She is now under the orthopedic care of Shriner’s Hospital here in Tampa and they have been great. They have provided her with orthotics and a walker. She receives her therapy at Children’s Therapy Center. Valerie’s weekly schedule includes 61/2 hours of P.T., O.T., S.L.T., and soft tissue therapy. We have also had success with cranial sacral therapy. Valerie works with wonderful therapists. They have taught her so much—she can sit, pull up to a bench or furniture, scoot along furniture, and feed herself. We are currently working on standing and walking using an HK-AFO and walker. Valerie talks well even though she does have some oral motor problems that restrict some consonant sounds. She is also learning to swim which has been great exercise for the muscles. She loves to play with her older brother and friends. She is involved with a weekly playgroup and library storytime. Valerie will attend preschool next year. If anyone has had success with any other types of therapy or treatments, please let us know. Also, if there is anyone in the Tampa Bay area with arthrogryposis, please contact us. We have met one child so far.
It’s hard to believe our little girl has just turned three! The time has gone so quickly since her birth. What a vast world of knowledge we have gained from this special little person in our family. Now that Nicole is a “young lady,” she is quickly becoming aware of her “differences” in comparison to her “typical friends.” She wonders and notices them play, running and walking. She always tell us, “I will walk someday!” She has great ambition—part of which I know keeps us all going. We are anxious for Nicole to meet more children with AMC. We are planning a picnic/Summer BBQ in August of ‘96, for any families in the Washington area or those who may be visiting at this time. Please call or write by April ‘96 if you would be interested in joining the fun! I know the kids (of all ages) will enjoy being together... Nicole recently had knee releases to help straighten her legs. We went from -70deg. in both to -30deg. and though they aren’t completely straight, they are functional for bracing. She will have KAFOs. Does anyone have information on the types of braces or treatment for scoliosis and the effects this has on learning (and the ability) to walk? Nicole’s spine may need support when she is in her KAFOs. We are also very concerned about how kids with AMC do their schoolwork. Nicole’s fingers are pretty stiff. Aside from the computer, does anyone have any devices or success stories on how to teach Nicole to write independently? Nicole uses her mouth and her hands (in sling suspension) for coloring but is not steady enough for letter formation. What does kindergarten have is store for us? Please write. A special “Thank You” to Jerry Faraino, who is president of N.A.F.I., for the wonderful video “Coping with Arthrogryposis.” We shared it with Nicole and did her face light up when she saw what other children with AMC were doing! We’re on our way!
Our daughter Vicki will be twenty-one in December and cannot depend on treatment from Shriner’s anymore. Please send a list of doctors interested in arthrogryposis in our area.
I am the mother of an eleven-month-old son, Sean, who was born with arthrogryposis. In addition to the arthrogryposis, he has other problems. This past year has been one of joy and sadness. I am now looking to the future which requires more information. I was recently given your address by a social worker. I would like to somehow get in contact with other mothers like myself. I have spent numerous hours at the Biomedical Library at UCLA and have a lot of medical information. I am searching for information and advice of families like ours plus doctors who have medical education and experience with patients. I want someone to talk to that knows what living with a child with this condition is all about. I hope to learn from others and teach them what I have learned. I hope you can help.
We would like to bring you up to date on our son Paul’s accomplishments, which should provide some encouragement to children of our support group. You will recall from previous letters that Paul is a quadriplegic from birth due to AMC. He has very limited use of his arms and legs. A number of months ago he was evaluated and it was determined that he had enough push and lifting ability in his legs as well as lateral movement in his arms that would allow him to operate a highly modified van. The Braun Corporation, of Winomac, Indiana, did the lowered floor, door, and ramp and the Ahnafield Corporation of Indianapolis, Indiana did the driving equipment. As he quoted from the ADAPT bumper sticker “We proudly go where everyone else has gone before.” Paul continues to be employed by the State of Tennessee. He has advanced to a Systems Analyst III, a programmer/analyst in computers, for the Department of General Services. He is well adjusted and very involved in several disability organizations. He is on the Board of Directors for the Center for Independent living of Middle Tennessee and Access Services of Middle Tennessee, a clearing house for information on technology for the disabled, and he is a member of The American Disabled for Attendant Programs Today (ADAPT), an advocacy organization.
Our daughter Nicole is now 12 1/2 years old. How time flies. She is eagerly awaiting junior high in the fall. She also was matched a year-and-a-half ago with a beautiful Canine Companion named Carole. She and Nicole are the best together. Nicole has never lacked for confidence, but with Carole by her side, nothing can stop them. Nicole has done numerous demos and speaking engagements for CCI (Canine Companions for Independence). How thankful we are for reading about CCI in AVENUES. You have touched many lives. Our prayers go out to you.
I am writing to thank you for all the good work you are doing and for all the encouragement your paper has brought to us. When our son was born with arthrogryposis on August 5, 1975, we were devastated. But we immediately decided to do everything in our power to see to it that he had the most normal life that he could. In the beginning, numerous student doctors told us we should prepare for Tony to be in a wheelchair as he wouldn’t be able to walk. But we were lucky and had a very good orthopaedic surgeon that kept encouraging us that anything was possible if we didn’t give up, so we kept on with the exercising of the legs, etc. After several surgeries on his feet, knees, and back, to bring his heels down, stretch his muscles, and straighten his back from the scoliosis which he also had, he was able to do nearly anything he wanted. He was only four feet, one inch tall and weighed about sixty pounds his senior year in high school. His body was very badly twisted from the scoliosis, and his muscles were contracted so he could not stretch out, so he was unable to participate in the sports he enjoyed, so he was manager of the boys’ tennis team all four years of high school, and manager of the boys swimming team his senior year. As he was too short to drive just any car, he was unable to take Driver’s Ed, so his dad extended the pedals for him, put cushions around him to put him in the position, and taught him to drive. And I believe what he was proudest of was that he was able to drive a normal car without having to have hand controls or anything that marked it handicapped. Tony did not believe he was handicapped, he was only limited, as he could do almost anything, he just had to figure out a different way to accomplish some thing. Many of the so-called normal people around Tony were far more handicapped than he was. On May 5, 1995, Tony was finishing his first year of college when he got congested, and his body just couldn’t seem to fight it off. He just lay back on his bed, and went to sleep for his last time. While we miss Tony dreadfully, we have found that he touched more peoples lives in nineteen years than many people do in a full lifetime. Through Tony, we learned the key to success is not money and power. It is love of people and of God. No matter what they may look like on the outside, what’s inside is what counts. Hundreds of people have been in touch with us to express their loss also. Tony wasn’t a quitter, and taught us not to be. His faith in his doctor was unending, as was his trust in God. Many times we could very easily have not put Tony through the pain of exercises or surgery, but we wanted what was best for Tony, and that was to be able to stand on his own two feet. And at fout feet, one inch tall, he was one of the tallest men I have ever known. Had Tony just had arthrogryposis, he could have lived a very long and happy life. The scoliosis made it much harder and shortened it considerably. But we are very thankful for the time we had with Tony, and very proud of his success in life. He truly made every day count.
I am writing to you in the hopes of getting some information about arthrogryposis. My son was born in January and diagnosed with arthrogryposis. His lower body is what is mostly affected. He has severely clubbed feet and is unable to bend his knees on his own. He has been seeing a pediatric orthopaedic doctor at Yale New Haven Hospital, and has had leg casts on since he was one week old. We are now waiting for his feet to get bigger so he can have surgery. His left wrist was also affected, but is getting better with physical therapy and the help of a splint. I would be interested, if possible, to talk with other families who have been affected by arthrogryposis.
I enjoy the stories from people around the world and have decided to share mine. I was born May 3, 1946 with arthrogryposis; it affected my arms and legs. Luckily, I was born to wonderful parents who devoted their lives to helping me cope. My father was a hard-working decent man who followed my mother’s lead; she was the aggressive one. Mom was determined to get me the help I needed. Her search led me to Dr. Robert Carroll at Columbia Presbyterian Hospital in New York City. As a youngster, mom, dad, and I made numerous visits to the man who gave us hope: the feeling that much could be done for me. Braces and exercises were the daily routine until I was in my teens and ready for a series of surgeries. Mom brought me up to think and feel “normal.” She fought for me to get into elementary parochial school where I eventually skipped two grades. From there, I went on to a public high school, then college. All the while, my mother assisted my exercises, tutored me, guided me, and provided unconditional love. She passed away in 1986, three days before Christmas—part of me died that day too—but I had to go on. Halfway through college, I decided I wanted to be a social studies teacher. When I went for job interviews, principals were cordial, but I could tell none were ever going to give me a chance. I had a 3.4 cum (3.6 in history), along with top recommendations. People less qualified than me always got the job. This was before affirmative action, accessible buildings, and reserved parking spaces. Finally, on November 16, 1974, the call came. The Newburgh Board of Education was going to try me at the local junior high school. I was told that I wasn’t wanted there and no one thought I could control a class. It is twenty- one years later, and I’m still teaching at the same school. In an otherwise successful fight against AMC, one thing has eluded me—true love. I was married for four years, but my physical problems, combined with her mental ones proved too much weight for our relationship to carry. I still am looking for love. Being disabled cuts the field tremendously; not driving cuts it even more. I continue to search. If someone can offer advice on how to find love in spite of AMC, please contact me.
Several newsletters ago you published a letter
from Tedd Mallasch indicating his desire to donate a used Irish
Mail to a child with AMC. I wrote this very generous gentleman and
told him about my five-year-old son, Dustin, who has arthrogryposis.
In a very short time, the car arrived and Mr. Mallasch refused to
allow me to reimburse his shipping costs. Since then, Dustin has
spent many happy hours zooming around on his new I would like to publicly say “Thank You” to Mr. Mallasch for his generosity and continued support. Thanks also to AVENUES for bringing our families together. Keep up the good work.
I spoke with you on the telephone several months ago, after being told that my unborn child would have arthrogryposis. You were extremely helpful and reassuring to me. I want to thank you for the copies of AVENUES that you sent to me along with other resource materials. My daughter, Leslie Caron Petersen, was born on May 11, 1995, at thirty-five weeks gestation. Leslie spent twelve days in the NICU, mainly for feeding problems. Doctors in the NICU initially diagnosed distal arthrogryposis, but at a subsequent consultation with a Pediatric Geneticist we were given the diagnosis of arthrogryposis secondary to amyoplasia. Leslie’s upper body is the area most affected, with significant weakness in the shoulders and elbows. At birth she had wrist contractions that were very fixed. Her hands were extended at the MP joint with very mild contractures at the IP joints. We began splinting the wrists at five days of age. We have noticed very good improvement in the contractures with markedly increased flexibility, although she now has some ulnar deviation of the wrists. Leslie is able to control her left arm fairly well, but she has some trouble supinating her right arm. Fortunately, she can bend both arms at the elbow to get her hands to her mouth. Leslie has strong hip and knee muscles and no contractures at those sites. Her feet were severely bilaterally clubfoot. We found an orthopaedic surgeon willing to try serial casting after first meeting with two surgeons who recommended surgical treatment alone at about one year of age. The casting has gone well, however we recently learned that surgery will still most likely be necessary We are interested in trying a modified Dennis Browne splint. Do you know of anyone who has used one of these? ln addition to problems with her extremities, Leslie has great difficulty with sucking. She has managed somehow to suck well at the breast, but cannot yet successfully use a bottle. We are currently using a softcup feeder and are just introducing solids. We hope that this will free me a little from the job of feeding Leslie, since she now nurses every one to two hours. Learning about Leslie’s condition and possible treatments, taking her to be evaluated and to therapy appointments is nearly a full time job at this point. Your newsletter has done much to assist me in learning more about arthrogryposis.
My son Alex, who is almost two years post club foot release surgery is doing well. He is no longer wearing AFOs, runs and rides his bike and has good hand strength. The left foot still turns in a bit, and he may need a tendon transfer in the future. He had some finger anomalies as part of his AMC, and although the fingers are shaped regularly, they lay “differently.” He is left handed, and when using the left hand his thumb pops in and out of the socket. Also, his legs are very thin between the knee and ankles with no thickening on the calf. We are wondering if there is a way to work towards developing the calf muscles a bit. I have read that Kristi Yamaguchi, the Olympic Gold Medalist figure skater was born with both club feet requiring surgery, yet I note that she has a regular contour to her legs.
Matthew is our very special little boy. He is soon to be five years old. He was diagnosed with arthrogryposis at birth. The first things that we noticed about Matthew was that he was really stiff and he wouldn’t eat. It took about four hours to feed him a little four-ounce bottle. At about three months, we began gavage feeding and then at about seven months we switched to a feeding tube which he is still using. Matthew’s arthrogryposis affects both his upper and lower extremities. He sees a physical therapist, an occupational therapist and a speech therapist weekly. At times he has difficulty breathing. He has been in the hospital at least twenty times in his four short years—mainly with pneumonia. Sometimes our home seems like a miniature hospital. We have a breathing machine, a suctioning machine, a feeding pump and are soon to get a hand held chest percussioner. On the other side of all of this Matthew has had many good days. A significant difference in his health was noticed after he had his tonsils and adenoids out which was about one year ago. Matthew loves music and he has a head switch and a jellybean switch so he can activate his music and some of his toys by himself. He loves being around people. He likes being outside, playing in his swing and going through the sprinkler at the park in his wheelchair. He’s been going to preschool three days a week and this year he will be going four. He likes being with his friends and doing what they’re doing. He rides home from school on a little yellow bus. When he gets home from school it’s time for chest percussions, feeding and stretching. Before you know it’s time for a bath and bed. Then at the end of the day as I stand watching him sleep, I remind myself that special children are a gift from God and I say to Matthew, “We love you very much and we’ll see you in the morning.”
First, thanks for everything you do to help so many families! We’ve learned more about AMC through AVENUES and the contacts we’ve made through you than anywhere else. A brief update on our child with amyoplasia, adopted in 1992 from Brazil: Morgan turned four on August 28, 1995. He had surgery at Seattle Children’s in the fall of 1992 to release one hip and both feet. No other joints are affected. He began walking with crutches in April, 1995, and we changed from posterior shells to anterior floor-reaction AFOs in June. By August he’d taken twenty-eight at one time without crutches or holding onto anything. We credit the support in front of the knee. He began preschool in September and is doing great. toileting and relinquishing the bottle are current concerns. We welcome any feedback or suggestions. Now, a plea: In July we became aware of a baby girl (born 8-21-93) in Brazil with amyoplasia, both arms and legs. Tami seems very bright. You can see how beautiful she is! Adoption is the child’s only chance for medical treatment and a functional life. She is available immediately. We can provide photos, video, and detailed reports on her condition. Anyone interested can call us. If you leave a message on our answering machine, we will call you back!
Last time I wrote, our daughter, Meghan Elizabeth, was just a baby. Now she is 31/2 years old. She can do just about anything a three-year-old normally does except walk and go potty in the big potty. She can color, feed herself, take her shoes and socks off, and turn pages in her books. She has absolutely no muscles in he arms but she can do all these things with her feet. She learned to do this all by herself. I set a plate with cut-up fish sticks on the floor by her with her fork, which I forgot to take with me, and she picked it up with her foot and brought her foot to her mouth and thus can feed herself now. She can say her ABC’s and count to ten. Many of the Barney songs she can sing by herself. I always thought she would be a little delayed in her mind also, but she isn’t. She can ask questions and answer questions asked of her. She is so beautiful. Her arms are smaller than everyone else’s her age—particularly from having no muscles in them. Her legs are tiny also, but there she has muscles. her feet are still club-footed, and as long as she decides to use them as her hands, no surgery will be done to correct them. We had taken Meghan previously to Riley Children’s Hospital in Indianapolis, but they were so concerned with getting her on her feet and walking that we were just too concerned about her learning things which she does with her feet. Riley told us she would have her feet in casts around 6–8 weeks. She would have gone crazy not being able to anything. Her feet are her hands to her. So, we took her to Shriner’s Hospital in St. Louis. They were all for keeping her feet the way they are until she has adapted to using her hands. They said that she wouldn’t be a good candidate for muscle transplants because she didn’t have tendons. That we didn’t know until then. We are very proud of Meghan and all she has accomplished this far in her life. Up until recently, she would do anything, or at least try it, but now she has adopted the phrase, “I can’t,” whenever she can’t do it the first time. How do you get her to try these thing again? I am just so helpless when it comes to these things with Meghan. My husband and I have recently been blessed with another daughter, Emily, and Meghan just loves her. Meghan is especially interested in Emily’s hands (Emily has no medical problems). Meghan never looks strangely at them or anyone else’s hands but is just fascinated. She is always saying, “Look at Emi’s hands.” Recently, I took Meghan to the park and she just wanted to play with the rocks, but you could see her looking at the other kids running around, and she couldn’t. I just can’t trust other children to take her away because they knock her down and are basically are just mean to her because she can’t defend herself. I just wonder if other parents had to decide something when it came to other siblings. Do I limit the things Emily does when she gets older because Meghan can’t, or do I let Emily do things and watch Meghan sit on the side? I am so lost on how to handle things now that Meghan understands just about everything, except why can’t she? She never acts like anything is different and maybe I am being overly protective about hurting her feelings, but I just want to avoid situations that may make Meghan feel less than another child. She attends a preschool for developmentally delayed children, but none of them have the problems Meghan has. All of them can walk and get around and can use their arms. She has taught them how to paint with their toes. Most of the time the other kids get frustrated and just do it with their hands and Meghan will laugh. Meghan can get around by scooting on her bottom. She has tremendous balance on sitting up. She was fifteen months old when she finally sat up by herself. She had a wonderful therapist that worked with her every time until she could do it herself. She started off sitting up for five seconds and then twenty. Until one day at home I sat her up (still supporting her) and let her go and she sat up for fifteen minutes! I felt like she had taken her first step. The doctors had told us, when she was first born, that she would walk and sit up like other children. I have noticed in letters that doctors have told them their children wouldn’t do things and they do anyway. Have parents been told their children would do something and yet they still haven’t? What were the ages of the children when they started walking? Meghan was also born ten weeks prematurely. She weighed two pounds, nine ounces. Have any other parents had children born prematurely that had arthrogryposis? has their weight gain been slow? Meghan weighs nineteen pounds and is quite tall when standing. She also doesn’t really have an appetite—until she started feeding herself. Now she wants to do it herself. Meghan has a chromosome disorder called Trisomy X. She has three female chromosomes. They said the type of person from this disorder is usually average intelligence to slower learning. Behavior problems also go along with that. Meghan, to us, is above average in social, academic, and creative ways. I just think she is the smartest child anyway. I had one family with a little boy named Matthew write to us some time back and the envelope was never found with the return address on it. I would like to say “thank you” to her for writing me, and the other people also. They gave great ideas to try. Still, we haven’t seen any muscle development at all, except for her shoulders. We are still hoping for some help for Meghan, but if not, she has her feet. She will still be able to everything she needs to do with her feet. She can even pull hair bows out of her hair. I never thought that would be possible. She sits against the couch and swings her leg up and pulls until it comes out. Strange things that children love to do. She cannot keep her hair out of her eyes yet she loves having it there. I also have a question about going to the bathroom. Have any other children had problems potty training? Meghan’s pediatrician seems to think maybe Meghan doesn’t have the muscle to control her bladder. Have any other parents had problems with this? Please put my family’s name on the list of interested parents and I hope people with questions will write or call us. We would be happy to talk with anyone. Also, Shriner’s Hospital in St. Louis is trying to get together an arthrogryposis clinic as soon as everything is sorted out. We also would like to hear from parents that have taken their children to Shriner’s in St. Louis. We have seen a lot of parents that have taken their child to a Shriner’s Hospital but have yet to see any from St. Louis. Thank you, AVENUES, for being there to listen and help us support each other.
Our son Scott has arthrogryposis involving both arms and legs. He is ten years old and has been treated since birth at the Portland Shriner’s Hospital. He has done quite well, is a happy and outgoing kid, and is involved in many activities. Although he has his limitations, he is able to ski through an adaptive ski program and he drives a quarter midget race car. We are seeking information to help us in making a decision regarding treatment of his arms. His arms are inwardly rotated at the shoulders; elbows are in extension with about 45- 60 degree passive motion; and hands are pointed away from the body. He has good fine motor skills and is able to write. However, because of the position of his hands he is unable to access his mouth for feeding or brushing teeth. We consulted with Dr. Ed Almquist, a hand specialist at Children’s Hospital in Seattle. He recommended that Scott undergo bilateral triceps to biceps transfers and a rotational osteotomy on the right to bring his hand into a natural position of function. If anyone has experience with these procedures, we would love to hear from you (medical personnel, parents, or patients). If you know of anyone who has had this done, or considered it, we would like to hear about it. What are the pros and cons of these procedures? What function can we expect to gain and what can we expect to lose? What is the post- op recovery period? Should we get another opinion? If so, who and where? Any input on this would be greatly appreciated.
I have been receiving your newsletter since my daughter Ella was diagnosed 31/2 years ago with AMC. I am writing to you now because I am looking for some support that I have not seen in you news letters before. Ella passed away on October 14, 1995, very unexpectedly. She had no indications of any actual health problems other than her obvious orthopedic and low muscle tone. She did, however suffer at one time from what her pediatrician called a vagal response. Her bowels were not moving appropriately and put extreme pressure on her vagus nerve causing her heart to stop suddenly. We seemed to remedy that with daily doses of mineral oil to keep her intestines lubricated. She never had another episode of that again. She was a very beautiful child with a great disposition. Always happy, but a typical three-year-old too. She taught us many things about life and love. I received an e- mail from Gabriele Hendrichs a few daysago. She said that she seems to remember hearing of this happening to a couple of other families. She is trying to locate some families for me. I didn’t know if AVENUES knows of this happening either. We are very heart broken, and just need to talk to someone I guess. I was very excited when I found your newsletter on the Internet.(I am very new at being on line!) I wish I had had access to it sooner. My husband and I also have another daughter, Olivia, who is eight. She misses her sister very much, and I am not sure that I am helping her cope very well. I am trying my best, but it is hard to tell if you are doing the right things. Do you have any info about helping siblings cope? I hope that I am not asking too much, it just helps writing this to you. I have always loved receiving AVENUES, and plan to continue doing so. Maybe someday, I can be of help to someone else.
I am a thirty-year-old recently married with AMC. I really do not know much about this disease except that it is congenital. Arthrogryposis affects all of my limbs. Now that I’m married, my main concern is to research arthrogryposis as it relates to me becoming pregnant. Of course, it will not be easy for me to carry a child due to my handicap. I’m sure with extra weight to carry, my balance could become more off than usual. My doctors have all told me they see no problems with me conceiving a child. I am already certain I will most likely deliver by C-section. I have read some entries from others who have this condition in the AVENUES newsletter and frankly, I am a bit scared to try to get pregnant. I have been told all my life that it is not hereditary. However, in the newsletter, I read of a woman who had two girls four years apart who were both born with AMC. Another was the address and birthdates of a man and his son, both with AMC. Please inform me of the facts! I do not want to get pregnant if there is a risk of AMC being hereditary. Would someone be kind enough to send me e-mail back pertaining to my inquiry, or, send me some specific information? Is there a genetic counselor who specializes in AMC that I can talk with? I look forward to hearing from someone soon!
My daughter, Jessica, is thirteen with a mile case of AMC, amyoplasia type. It is mostly in her arms and hands. Her arms were contracted a birth in flexion, her hands too. She wore leg and arm braces for years but does not now. We have not met anyone with a case as mild as hers. As the years go on, she seems to be gaining more strength. She is still limited in some areas. It has been especially difficult in regular PE (she refuses adaptive PE). Last year, she was flunked in the track unit for only running nine out of ten events (ten was an “A” and nine was an “F”), even though her IEP stated she should do 80% of the activity requirement. It was a terrible battle that we finally gave up on. The principal refused to intervene. She didn’t want to go to a fair hearing and testify, and we didn’t want to put her through that. Some people have no heart! She would love to write to someone else with similar problems in her age group. I am interested in hearing from anyone that has a mild case of AMC like hers. Basically, her legs are fine now. She has very floppy hands, weaker arms. Can’t push up on her arms if she is on her stomach. She is a can-do person, but is still in a lot of denial that she has any problem. She is starting to open up now. Also, any new conferences coming up in California?
My four-year-old daughter, Claire, has started to make phone calls to her friends to invite them over. Does anyone have any ideas about low- tech adaptations so that she can begin to make these phone calls herself. I suspect she will insist on making them in the next year. I thought I could probably find a telephone with big buttons and memory, but I couldn’t imagine that Claire’s young voice would carry over well on a speaker phone. Any suggestions?
I am mother to Randell C.L.K. Starker who was born with x-linked lethal arthrogryposis. Randy represents the 30% of the arthrogryposis community that receive it as a genetic disorder. Randy has since moved on to bigger and better things. Having moved on to his next life, he left me as his voice. Today I found out through a phone call (from a doctor in Florida who is working hard to find the gene to this) that they are close to an answer to the questions our family has had for many years. But, sadly and happily, I also out that our family is not in fact the only carrier of this most profound strain of this disorder. Rather, one of three families. Happily, because we are not alone in the first time in over twelve years, but sadly, because by not having anymore children, we prayed that we would be able to wipe this off the earth. Our family is a four generation family, seven sons affected and three carriers left. My great-grandmother and grandmother had one boy each with it and many normal sons. Then, somehow it changed. My mother had two boys with it, both having different fathers and two daughters who were both carriers. My sister, Chris, lost two sons and I lost Randy after twelve months, three weeks. Randy had the least medical problems and the best chances and he lived the longest. With our sons all of the joints are affected, most were born with broken and dislocated bones, brittle bones, deformities in the internal organs, paralysis including the vocal cords, among countless other things... There is so many wonderful things happening with finding a cure for this and so many of the families who have worked with doctors and geneticists to get us here. But there is still so much we need to do. Now more than ever, the letters, phone calls, and over-bearing parents are needed. All of us should thank our lucky stars for our little Randys who give us our biggest challenges and our greatest compliments.
Please put me on your list to receive AVENUES. I got your names and addresses from Anita Connor—we share a hairdresser. I am fifty-eight years old and have arthrogryposis. I have never met another person who has it. I am particularly interested in information on arthrogryposis and aging. Until about five years ago, I ticked along fairly well. I owned a cane which I used for emergencies. Out of nowhere, I started getting occasional episodes of extreme weakness in my thighs and hips where I nearly fell over. After each one, I had less and less recovery. Now I can barely walk with two canes and sometimes must use a wheelchair. My doctor referred me to Stanford Orthopaedic Clinic last summer. They’d only seen two children with arthrogryposis some time ago. Last month I had to retire from my job as a secretary because I was just too exhausted to keep up. Do you know how I can find out what happens to children when they grow up? Is there any information on arthrogryposis and aging? My doctor and physical therapist want to know, too. From The Medical Professionals
We had our first arthrogryposis clinic at the Montreal Shriner’s Hospital last week. It was a fascinating experience for all the staff and the patients certainly seem to appreciate and benefit from it. We are looking forward to having monthly clinic from now on.
As of July 1, 1995, Dr. Dean MacEwen, formerly the Medical Director of the Alfred I. DuPont Institute and the Chief of Orthopaedics of the New Orleans Hospital for Children and I have relocated our practice to the Orthopaedic Center for Children at St. Christopher’s Hospital for Children in Philadelphia, Pennsylvania. Both Dr. MacEwen and I are pediatric orthopaedic surgeons who have had substantial experience in dealing with children and adults with arthrogryposis. The Orthopaedic Center for Children provides not only orthopaedic evaluation and care, but is supported by Sue Boltz, physical therapist, and Amy Levin, occupational therapist, the capability for spinal bracing and splinting, seating service, as well as a state-of-the-art gait laboratory. Our plans are to continue with the care of this patient population and to expand our services.
I am a P.T. who has recently begun working with a youngster who has been diagnosed with distal arthrogryposis. Because I have a lot of experience with geriatrics and my only work with pediatrics was many years ago and only with one arthrogrypotic child, I have been very happily challenged by working with this bright and personable two-year-old. Bryan has very stiff knees and probable vertical talus in both feet. He has very high-riding scapulae, but his main involvement of concern to me and his adoptive family is his congenital kyphoscoliosis (high thoracic) with a lower thoracic lordosis. After a long-awaited consultation with a scoliosis specialist, his parents came away without a lot of information. I would, therefore, like to help them gather some practical information regarding the prevalence of scoliosis in arthrogryposis and the general management which you as parents or professionals working with these children might have to share with us. Does anyone have experience with bracing these curves? How are they affected by growth, gravity, and has therapy been effective in reducing or slowing their progression? Has anyone tried massage of chiropracty? Any information would be most appreciated. Bryan is very small and is developmentally on target for his age except for those more demanding physical skills. He has recently begun walking and is learning to get up from the floor by pushing into an inverted-V but has difficulty with it due to his stiff knees and limited shoulder range. it seems bracing at this stage might hold him back physically, though his spunk and enthusiasm could see him through! We were also wondering if anyone has any suggestions for sit-on push toy to encourage use of his knees.
The National Arts and Disability Center (NADC) is a federally funded project of the UCLA University Affiliated Program. The NADC is a resource center which provides technical assistance and training to promote the full inclusion of children and adults with disabilities into the art community. Dissemination of information and training is available to artists, families with a child with a disability, the art community and community support personnel. Information is available on art schools, centers and programs; art and disability organizations and foundations; relevant city, state and federal departments; assistive technology and software; and full inclusion. We are interested in acquiring information about the experiences of children when fully included in art programs or classes. We would like descriptions of children’s successful experiences as well as the obstacles faced when participating in art programs or classes. |
