newsletter: Volume XXI, No.2 December, 2000

Contents:

• New Center For Arthrogryposis Treatment in New York
• Adults with Arthrogryposis Group Organized
• On Muscle Biopsies and Arthrogryposis
• Genetic Study of Distal Arthrogryposis Makes Progress
• Arm Surgeries and Arthrogryposis
• From Families Around the World
• Pen Pals
• Short Notes

New Center For Arthrogryposis Treatment in New York

From: The Hospital for Joint Diseases, New York City

"We are proud to announce the new Center for Arthrogryposis Treatment at The Hospital for Joint Diseases. Directors Harold van Bosse, M.D. and Joan Gold, M.D. coordinate a team approach to these complex children. Our philosophy is that most children with arthrogryposis generally carry a good prognosis for walking and independent functioning, they should therefore be given the full benefit of a multi disciplinary approach. Children at The Center are evaluated and followed at every visit by a compliment of pediatric specialists, including orthopaedics, physiatry, and physical and occupational therapies. At their first visit, they are also examined by a geneticist and a neurologist to help establish underlying conditions. This is particularly helpful to young families, to help them establish the risks of having future affected children.

Treatment plans are designed to take both the child's medical/physical needs and their social/emotional needs into account. Our social workers and child life specialists are integral in formulating such treatment plans. Aggressive physical and occupational therapies are supplemented by serial casting and surgery. Our experience with the Ilizarov external fixator for treating arthrogrypotic joint contractures has demonstrated its effectiveness, especially in getting children with severe knee flexion contractures ambulatory. Children requiring intensive inpatient therapy may be admitted to the Rusk Institute for Rehabilitation, our sister facility.

The Center meets monthly. We hope we can be of service to any of your East Coast members. For appointments, please call (212) 598-6250. For further information, please do not hesitate to contact Dr. Gold or myself directly."

Harold J.P. van Bosse, M.D.
Pediatric Orthopaedic Surgery
and Pediatric Spine Surgery
The Hospital for Joint Diseases
301 East 17th Street
New York, NY 10003
(212) 598-2310
(516) 596-2514
(212) 598-2311 Fax

Joan Gold, M.D.
Pediatric Physiatry
Rusk Institute/NYU Hospital
34th Street and 2nd Avenue
New York, NY 10016
(212) 263-6519
(212) 263-0603 Fax

Robert Wallerstein, M.D.
Ellen Moran, M.S., C.G.C.
Medical Genetics
The Hospital for Joint Diseases
301 East 17th Street
(212) 598-6215

Linda Both, M.A., C.C.C.
Administrator, CNDD
The Hospital for Joint Diseases
301 East 17th Street
(212) 598-6154

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Adults with Arthrogryposis Group Organized

Chris Johnson, coordinator of the Mid-Atlantic support group for Arthrogryposis, has started a new Internet Discussion List aimed at issues faced by adults with arthrogryposis. To join the list, point your Internet browser at: http://www.egroups.com and follow the instructions from there. Chris Johnson can be contacted at: CPJohns964@erols.com.

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On Muscle Biopsies and Arthrogryposis

From: Marnie King, OTR/L

As the occupational therapist at A.I. duPont Hospital for Children's Arthrogryposis Clinic, I want to respond to comments about the muscle biopsy. You need to know why there is reluctance to do the biopsy with a child with arthrogryposis. First, the biopsy protocol says to take the muscle sample from the quadriceps which is ordinarily a big muscle. However, it is not necessarily a large muscle with AMC. Since the biopsy may remove the very fibers that give the child the chance to extend the knee enough to stand and walk, our physicians do not order it unless there are other unknowns. Clinical experience tells our doctors here whether the child has clinical AMC and if the child needs the biopsy. Often it is done during the foot surgery and muscles other than the quads could be used. Since joint contractures (arthrogryposis) may come with other diagnoses, the least invasive procedures are recommended by us. Our orthopedic and therapy management would not be any different with the information gained by the biopsy.

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Genetic Study of Distal Arthrogryposis Makes Progress

Last year Avenues published a brief letter that I wrote to someone inquiring about the genetics of arthrogryposis. This letter began by explaining that one of the goals of my lab is to identify genes causing multiple congenital contracture syndromes. To this end we recently started working with two families with trismus-pseudocamptodactyly TPC), a unique and uncommon form of distal arthrogryposis. We have tentatively defined the location of the gene causing this disorder on a specific human chromosome. However, we would like to test other families to confirm or refute that this finding is correct. Identification of the chromosomal location is one of the preliminary steps to identifying the gene and further understanding the mechanisms during development that produce congenital contractures. Is there a mechanism to ask families who are members of Avenues with TPC, if they are interested and/or willing to participate in this project? For example, could I e-mail a "call for participants" to you to be distributed to your members via e-mail? This is a common practice used by medical journals to announce research studies to clinicians. Additionally, one of the families with TPC with whom I am currently working would like to speak to members of other families having children with TPC. Thus, if TPC families in Avenues (not necessarily only those who might participate in our project) were willing to speak to this family, it would be appreciated.

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Arm Surgeries and Arthrogryposis

The question of how to deal with limitations in arm movement caused by arthrogryposis is a difficult one for many parents. The choices are generally between physical therapy only; surgery to increase the passive range of motion in the elbow( an elbow "release"); or an elbow release and surgery to transfer muscles to increase the active range of motion. In this issue of Avenues, we explore these options and hear from a number of parents and adults who give their opinions on the best option.

In the book, Arthrogryposis: A Text Atlas (Cambridge University Press, New York, 1998. 178pp. Edited by Lynn Staheli, M.D., Judith G. Hall, M.D. Kenneth M. Jaffe, M.D., Diane O. Paholke,B.S. ISBN 0-521-57106-5 List price: $85.00 ) the authors note that:

"the stiffness seen in the arthrogrypotic limb is highly variable and may be in flexion or extension . Passive range of motion at birth may be limited to just a toggle. The joint capsule, muscle, tendons, and skin are all affected…The elbows are often in extension. Triceps function will be present, but biceps and brachialis [other arm muscles] are non-functional or extremely weak. When the elbow is flexed, biceps function will be better but is limited by the stiffness of the elbow.

It is important to consider the lower extremity function before planning treatment for a stiff elbow. The usual goal for elbow treatment is to allow the hand to at least passively reach the face. However, if crutches or other assistive devices are needed for ambulation, an elbow release may not be wise or may be deferred until the lower extremity function is improved.

…The majority of children with upper extremity manifestions of arthrogryposis will not need surgical treatments. At Children's Hospital and Medical Center in Seattle, 70% of the children seen at the arthrogryposis clinic did not undergo surgery on the upper extremity…

…Our goal has been to obtain flexion to 90 degrees in elbows that are initially extended. Thermoplastic splints are applied within a few days of birth. The orthopedist monitors progress every 4-6 months and continues treatment until no improvement is seen. We have not usually made decisions on the necessity of elbow release procedures until the child has reached approximately 8 months of age. If both elbows are not required to be in extension for ambulation, then a posterior elbow release is considered to allow one hand to reach the face for feeding and self-care. This is often done early.

During posterior capsulotomy of the elbow, the triceps tendon is lengthened by a long oblique tenotomy, and the posterior capsule [back of the elbow] is released. Even aggressive releases rarely result in more than 100 degrees of passive flexion. (Williams, 1973). Splinting continues for 8-12 weeks after surgery.

A few children will have bilateral [both arms] flexion deformities of the elbow that may not respond to splinting. However, anterior elbow release [front of the elbow] is indicated only in severe contractures, and this is rare. Even with the elbow flexed at 90 degrees, the functional level is high.

Restoration of active elbow flexion in the arthrogrypotic child is often a consideration, since some active flexion power will greatly improve feeding, facial care, and carrying. However, all the muscle transfers available involve some cost. Available donor muscles include the latissimus dorsi [lower back muscle], pectoralis major [chest muscle], triceps [muscle that straightens the arm], sternocleidomastoid [neck muscle] and the common forearm flexors.

The latissimus dorsi offers a large donor muscle with little loss of function if it is transferred. Unfortunately, in most cases of arthrogryposis, the latissimus muscle does not develop to a point that transfer is possible.

The pectoralis major is most often a fairly strong muscle. Transfer is possible, but the cosmetic appearance of the donor site is often unacceptable. The patient will lose ability to forward flex the shoulder in most cases.

Triceps transfer can be done simply but will result in loss of active elbow extension, and this procedure should only be performed unilaterally [on one arm]. Progressive flexion contracture of the elbow has been noted after triceps transfer but may be purely a natural progression of the arthrogryposis and not due directly to the transfer.

Many children with amyoplasia will have little strength of finger and wrist flexion and a Steindler flexorplasty [using the forearm flexor muscles] cannot be considered. The Steindler procedure ideally can be performed with posterior elbow release and triceps lengthening. It can be performed with little extension loss but gives active flexion to 40-50 degrees. The strength depends on the muscle power available. Often, both the forearm extensor and flexor muscles are advanced proximally.

Rarely, supracondylar [above the elbow] extension or flexion osteotomy [removal of a section of bone] will be indicated for the stiff elbow. This should be performed for specific functional demands."

Comments Regarding Arm Surgery From the Archives of the Avenues Discussion List, 1997 to present [Note: Names have been deleted to protect the privacy of the persons who made the comments]:

Comment #1:…Both of my arms were straight and my bone doctor bent the right arm. My surgery was done about 23 years ago. I don't regret the surgery at all because, with my right arm I can feed my self, type, brush my hair and teeth. I use my left arm for writing and reaching for objects...

Comment #2: My 13-year-old daughter has straight arms—virtually no active range of motion in her elbows, but her hands can reach her face if she pushes her forearms against something. She has figured out how to do all her personal care—brush her teeth, wash her hair, bathe, etc. She also plays basketball and football with her 14-year-old brother and the other boys in the neighborhood, does her own laundry, does chores around the house, rides a bike, plays the piano, and has taken tae-kwan-do with the arm movements adapted. Every case is different, of course. But unless the elbows are locked, with no (or very little) passive range of motion, kids can make all sorts of adaptations.

Comment #3: My daughter, now 16, has very limited use of her arms. When she was diagnosed at 4 weeks of age, her arms were still so tight against her body, that it was hard to get a wash cloth under her arms. We started OT and PT five days a week with us doing range of motion exercises 4 to 5 times a day. We also splinted her wrists and fingers. The doctor told us that day that her arms would be useless to her and that all they were, were flippers. Well for flippers this girl has learned to feed herself, do all of her toileting needs, dress herself including hooking her bra, and putting on her socks. She can brush her hair, brush her own teeth. She has also learned to be pretty independent in the kitchen, doing light cooking, scrambling eggs, making taco's. etc.
What we did was do the range of motion, exercises very regularly until she was school age. At that time we started independent living skills. It is her goal to go away to college and not have to have an aide help her with anything.

Comment #4: My daughter Jessica was born January 22, 2000. She is affected in her arms and lower body. Her one elbow was fixed at birth but it can bend a little now. Her wrists were both very bent and look better. The arm surgeon that we saw in California wanted to do a tendon release in one or both of her arms. We have opted to seek more therapy and use that surgery as a last resort. We have seen improvement. The only option that I have heard of, and she has seen two upper body doctors, has been the tendon release of the elbow... I am going to Seattle in November to get a third opinion since the other two opinions were a little different.
My only reservations with doing the surgery is that Jessica can bend her one arm a little. She can bend it enough to put a pacifier in her mouth. Yes, she pulls back on her shoulder to do it, but her arm is still bending. The other arm she can bend while lying on her back and I think that when she gets older she can learn how to position it to bend it. Her one arm was completely straight when she was born but now it does move but mostly with the assistance of gravity. I just don't want her to lose the control that she currently has.

Comment #5: My son Devan was born with a flexion contracture on his left side and extension contractures on the right. His right wrist was/is turned in completely while the left was/is more flexible and the hand opens more. Babies are always tighter at first. We are glad we did nothing early on, except range of motion and splinting, as he uses the flexed side for self care and eating and the right straight side (arm that bends passively with turned in wrist) to write with and any fine motor task a right-handed person would do…

Comment #6: I had two elbow releases. One for each arm. Before my arms were completely straight! I think it's a good thing to have done because now I can eat by myself and I can write. I can do a lot of things!…

Comment #7: I just wanted to pass along a great suggestion for working on passive range of motion in babies' elbows which was given to us by our PT. She told us to bend Eli's elbows inside the kind of baby carrier that you wear on your chest (the one that we have is called a Baby Bjorn, there's another brand called Snuggli). This has been great because it sort of acts as a splinting device but he's very comfortable and happy in there and can tolerate it as long as my back can stand carrying him around. I hope this might be useful to someone.

Comment #8: Lisa no longer wears the elbow brace which she wore following surgery. Actually, I can't remember how long we had to use that. I can remember we had to have her in flexion for part of the day and extension for the other. It was a great splint. …I had a local O. T. make it using Dr. Van Heest's instructions and it had to be remade during surgery. Not a huge deal - just be sure Dr. Van Heest sees the splint before hand and all the measurements are perfect. We have had no changes since the surgery. She came out with full passive flexion on her left elbow and still has it. The only "complication" we had (which we don't consider a complication) is that Lisa is now at about 20 degrees of flexion, unable to fully extend that arm. She gained so much function in that arm from the surgery that the flexion contracture doesn't bother us. I hope the surgery has a positive outcome for Juliet. I'm always leery about recommending surgery to anyone. Each child has such different limitations and function. It would seem that with only 10-20 degrees of passive flexion you can't go wrong. We're trying to get some information on latissimus transfers. …to gain active elbow flexion.

Comment #9: I have some information on Latissimus dorsi muscle transfers to be used for elbow flexion. My daughter had that surgery on the right side when she was two years old. Unfortunately, it was unsuccessful. I understand that the reason it failed was because her latissimus dorsi was not a normal muscle to begin with. It was just better than her biceps. It did not end up to be strong enough to work as a substitute, even with tons of therapy and electrical stimulation. It also caused internal scarring which prevented subsequent surgery from being successful. I truly believe it would have worked if her latissimus dorsi was a normal muscle. So please, don't be scared away by my story.
My daughter had a left sternocleidomastoid transfer and that worked successfully as an elbow flexor. The same surgeon performed both surgeries. He is highly experienced with AMC surgeries and I highly recommend him despite the fact that we have been through some disappointment. His name is Dr. Melvin Rosenwasser at 212-305-8036. He is affiliated with Columbia Presbyterian Hospital in Manhattan.
We discovered the latissimus dorsi muscle was not normal during the surgery. We had EMG studies prior to surgery but it was very difficult to get fully accurate results because the sedation was not enough to keep my daughter still. It was a very difficult diagnostic test that I would never want to go through again. Once we discovered this during surgery, we decided to give it a shot since she was already on the OR table with the incision made. The doctor felt it was possible for it to work but not definite. The scarring that occurred internally was in the biceps area on the right side. This interfered with a later attempt for a sternocleidomastoid transfer to the right biceps. The sternocleidomastoid transfer was successful on the left side. The left side had not been operated on previously.

Comment #10: Ana had her surgery yesterday and it went great!!! After more than a year of therapy Ana only had 10-15 degrees of passive range of motion in her right elbow. She came out of surgery with her brace set at 90 - what a sight to see. During surgery Dr. VanHeest got full passive range. Ana has to wear her brace for the next 6 weeks set not to go beyond 90 and then we can start to work it up more. We are allowed to do some range of motion exercises but we can't let her extend her elbow on her own. She is not in major discomfort (she was more bothered by the fact that she had an IV in her foot and couldn't have her AFO on). Mary - Shriner's will have you come in a day before Julliette's surgery and make the brace there. They will have her wear it for an hour or so and then refit it and Dr. VanHeest will recheck it before & after surgery. They are absolutely wonderful there and we had a great stay. Ana is going to be discharged this afternoon.

Comment #11: Ana had what is called an Elbow Release... Right now her elbow is set at 90 degrees for six weeks, until her muscle heals. Then we will be able to work her up to hopefully getting her hand to her mouth. Right now the surgery appears to have gone very well. Before the surgery Ana had only 15-20 degrees of passive range of motion in this arm. All range of motion that we achieve from this surgery will also be passive. Dr. Van Heest, who performed the surgery, told me that they usually do it between the ages of 2 & 3 years. There was really very little down side for us as Ana has no voluntary shoulder or elbow movement and little hand use so there was really nothing for her to lose. The idea of her being able to feed herself is very exciting for us.

Comment #12:…When we did Ana's elbow release, everyone agreed to it but Ana's OT, who was concerned that Ana might lose the ability to straighten her arm completely. This was a valid concern and turned out to be true (it now only straightens to about 15 degrees which was all the passive range of motion it had before surgery) but we felt very strongly that Ana being able to get her hand to her mouth was more important than being able to straighten it. We are somewhat fortunate in that Ana can do so little we really don't have much to lose with her surgeries…

Comment #13: I just read your post regarding Ana's flexion contracture following her elbow release and wanted to share what Lisa's elbow eventually ended up at. Following surgery, we were able to straighten her elbow completely. As she grew, however, we began to lose the ability to straighten her elbow. She slowly went from a straight elbow to what is now a 45 degree flexion contraction. We continuously work on straightening it - we don't want it to get much beyond 45 degrees. The contracture is not a problem for her Lisa. In fact, she has gained an incredible amount of function with it in that position. We do have to watch it though. Lisa is almost 5, had the surgery at age 21 months.

Comment #14: We are finding that Ana's elbow is "pulling up" more as time goes on. Like Lisa, Ana likes this as it is more useful to her. ( Her left arm is still in extension). We brace every other night straight but I think Dr. VanHeest [Shriner's Hospital, Minneapolis] told us there could be changes as she gets older and her arms grow. Since our main goal with the surgery was function, I am not too upset by the effects but I am trying to help her keep as much range of motion as possible. We haven't decided what plan we will take with her left arm.

Comment #15: I have also never been able to straighten my elbows and I am able to do many things, almost everything. The doctors never wanted to touch them either. I am now 39 yrs. old.

Comment #16: My daughter had surgery on both elbows to bend her arms in front of her, The doctors said, either way the elbows will be stiff, either straight or bent. She has very little mobility.

Comment #17: I'm a 38 yr. old with AMC and I have maybe 5% use of my arms. Both my elbows are locked and my fingers are pretty much useless. I'm curious, how involved are your daughter's arms. Are they really thin? Does she grasp well? If they are like mine, hopefully she can use her feet like I do. When I was very young, my mother purchased an electric typewriter, which helped me figure out that I could do many things, how to use my feet for many of the everyday things others use their hands for. Whatever you and Texana create for her to be as independent as possible will undoubtedly be fun and inspiring for your family as I experienced when I was a child, learning about myself and my disability.

Comment #19: My son had no movement in his arms at birth. But every day he gets more and more. At about 6 months he started flexing his fingers on one hand. Believe me, at first I thought I was seeing things. My OT thought the same way. It won't be the same as you and I, but they learn to use what they have. My son can pick things up with his hands like a claw. What he can't do with his hands he uses his feet for. He has no active elbow movement but he has learned to bend down to use his leg to bend his elbow to put it where he wants it as well as using his teeth to bite his long sleeve to lift his arm. I keep working with him but he seems to figure it out on his own best. He is 14 months old now and what a difference. Don't give up, there is always hope!

Comment #20: My son Char's both upper arms were broken in delivery. He was such a sight, they were not sure if he had spinal injury due to breach birth. Char has very little arm muscle, both arms…straight, no bend in the elbow, limited movement in each wrist, and both hands are in a cupped or semi-closed contracture. When Char was 18 months, Shriner's did surgery on the right to bend at the elbow, giving him the ability to get at least one hand to his face. His arms still have no muscle and no lifting ability. He will brace his right hand against something to get things into his mouth, i.e. carrot sticks, pretzels, chips, etc.
Char uses a pencil in his mouth to write, and uses a pointing stick to type on the computer (when we don't watch, he uses his tongue and/or chin) to type. He tried to write with his hands but, since he has no muscle to press hard, he is only able to use soft markers, etc.

Comment #21: Have you tried any elbow splinting? We would use this for Lisa until she was about 18 months old. We attached tabs to her wrist splints. We made a vest for her with tabs at the shoulders. Rubber tubing would attach at the shoulders and wrist tabs, flexing her elbows. We eventually went from 20 degrees of flexion to 90.

Comment #22: Our daughter and I have limited movements in our elbows, wrists, fingers, shoulders. Also many other joints.…We both drive. (I taught my husband. He is a police officer.) We enjoy drawing, sewing, writing. I was a telephonist and Cheran is going to be a primary school teacher. It is very difficult to look ahead and think of all that [your daughter] will be able to do. As parents we worry about the future for our children. Remember that "small" achievements lead to big ones. You will feel up and down, but be sure that, when you look back later on, you will treasure it all.

Comment #23: I was born with both elbows in extension also, before I started school they were surgically fused in a bent position, one at a lesser degree then the other. (Note, this was 35 years ago).

Comment #24: Em (almost 15) has stiff elbows—she can get her right hand to her head by resting her forearm against something and bending her elbow passively with her body weight, but her active range is pretty limited. The only thing that I can think of that she can't do is put the backs on her pierced-ear earrings! She's taking driver's ed now.…

Comment #25: When Sam was born, his elbows were in total extension, with almost no flexibility. We did range of motion exercises and, at 15 months, I decided to have bilateral triceps and tendon lengthening. It was the best decision I've made, even though many professionals told me I was crazy to do both sides at once. Now both his elbows have passive flexion well over 100 degrees, and active flexion around 30. His recovery was awkward at first, I think the casts weighed more than he did, but quick. The first time he was able to put his fingers in his mouth was very exciting for both of us.

From the editors: Our daughter, Melissa, was born with both arms in extension with no active flexion. With therapy and use, she eventually achieved about 90 degrees of passive flexion in her right arm without surgery. (She was scheduled to have an elbow release but the doctor called it off when he found out how much passive flexion that she had). With 90 degrees of passive flexion and relatively good hand function, Melissa can meet all of her self-care needs.

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From Families Around the World

My name is Chris Hartwick. I am a person with AMC. I am 31 years old. I work as an artist. During the last couple months I have been experiencing some swelling in my left armpit area and pectoral muscle. We have done CT's and MRI's but both have come back negative. Do you know of any others who may have experienced this problem? My doctor doesn't know much about this type of disease. He knows as much as I know and I think I still know a little more than he, which isn't much. We think it could be muscle related. I'm just trying to find answers. I've seen your site a couple of times so I thought I would give you a try.

I am very active. I teach CPR and First Aid for the Red Cross in South Carolina. I am a martial artist studying Chinese Kenpo. I am currently a blue belt (halfway point to the black belt). As I said earlier I am an artist. I draw with my mouth. I do computer work with my feet. I do type 30 words/min. with my left ring finger. I'm a pretty good cook. I like to swim, bowl, miniature golf, and volleyball.

I don't drive yet but would love to. Do you know any organization who could help me drive a car? Financial assistance in getting a car and equipment to drive it? That would be great! Any info on either the muscles or car would be greatly appreciated.

Hi, I remember contacting you when you lived in Washington. I can't believe so many years have passed. Your newsletter has been so helpful. I used to read them over and over; they were and still are very important to me. My daughter Blair was born with AMC 11/82. She is now a senior in high school. I read your daughter is attending Sonoma State. I went there for a year myself after graduating from Santa Rosa JC.

We are in the very stressful process of filling out college applications. I would love to hear from you regarding how and why you chose Sonoma and what other schools you considered. I am sure you did a very thorough search and would really appreciate any help you could give me...I have been searching for scholarships for physically challenged individuals and have had no luck. Do you have any suggestions...This is such a big move in all our lives and I am very nervous....I would love any advice you could send my way.

Thank you

From the editors: Hello, Martha. It's always nice to hear from one of our longtime readers. After being home-schooled through high-school, Melissa attended the local Junior College (Columbia) for a year, then transferred to Santa Rosa J.C.for a year. Her main interests are music and graphic design and Santa Rosa seemed to have a strong program in both. She then transferred to Sonoma State to continue her music studies while at the same time continuing to take classes at Santa Rosa. Sonoma offered the advantage of a fairly accessible campus, a small school, a good music program, and a reasonable tuition. Since Melissa didn't get any large scholarships coming out of Junior College, cost was definitely an issue. Melissa looked long and hard for scholarships for persons in her situation and didn't find much. It's a bit surprising that there isn't more help available to assist the physically disabled in attending college.

Hi, we are the Barbers. We have a son who is 1 year old. He has arthrogryposis. He has a dislocated left hip, severe club feet, upper deformities on hands and wrist, problems chewing. Gravity beats him. He cannot walk or sit up. He scoots or rolls everywhere he has to go. When he is sitting we have to put him in a sitting position and then he can't bring his hands up. Only when he is lying down he can do this. He has had three surgeries on his feet. None of them worked. We have been to the Geisingner Hospital in Danville, Pa., also the DuPont Inst. in Delaware. We don't know if we should put him through any more surgeries or not. If you could please help us in any way, it will be greatly appreciated.

Hi, My name is Corinne. I am a resident of Alberta, Canada. I was born with arthrogryposis. I am 25 and currently live in a house with 2 other girls. I have personal care workers come into my home and care for me. My only income is AISH (Assured Income For Severely Handicapped) which pays my main bills and groceries.

I am only receiving this assistance until I find a full time paying job. I took Travel Tourism for 2 years at a local college to become a Tour Director/Manager. But in order to find and keep a job I need to be more independent and have my own transportation.

I got my learners when I was 19 and was tested at the Glenrose Rehabilitation Hospital by Vivian Hyrinko in Edmonton for driving. I drove a vehicle around a parking lot for an hour and am able to drive
a vehicle adapted for me.

The question I need your help for is...where do I get the money to do this? There has to be something out there for us. Last week I met a young man with the same disability and he is having the same problem.

Easter Seals here said they will fund me for the special equipment I would need. But they would not give the money until they see my valid drivers license and vehicle registration. So this means I need to purchase the vehicle before they will give the money.

I feel I am being punished for being born this way. You can't deny the fact that if I was hurt on the job, Workers Compensation would already have 3 vehicles fixed up for me to get back on my feet and have a full time job. All I want is to be more independent. Is that too much to ask for? Please let me know what I can do about this...or whom I may speak to that would know more.

My name is Ron Campbell, I live in Melbourne Australia and I just read your arthrogryposis page....I have just visited your site, the reason being I was born with arthrogryposis in 1973 and had never really gone around to finding out anything much about it. I had a club foot and both wrists were affected.. Looks like I had a relatively mild case. I've had 3 operations on my foot, 3 on my left wrist and one on my right wrist. I also had one on my otherwise "normal" right leg to remove the growth plate when I was 15 or so, as my right leg was 2 inches longer than my left. By the time I finished growing the difference was more like 1 inch... I still notice it but it generally doesn't slow me down much...

Over the years I have picked up habits of roller skating and roller blading (I impress people who don't even realize I had arthro) I snow ski, snorkel, walk a lot and run a little, though my ankle doesn't appreciate the running much...I thought I'd write to thank you for the information and I'd like to add my story to your list if you have one. Might be of assistance to some kiddies coming up in the ranks...

I don't use any special devices to cope with life...Like your page says I have become very resourceful and work out my own ways to do things...

My name is Bruce Mayer and I have a 10 year old son (11 in July) who has arthrogryposis. He has been treated since birth by Dr. Peter Pizzutillo in Philadelphia. He has responded very well to his combined treatment of operations, casting, physical and occupational therapy and can walk with the assistance of long leg braces over short distances. He has been mainstreamed in school and has adjusted pretty well inside and outside school. I am trying to find a social/camp atmosphere where he can interact with children his own age who have similar physical challenges. Do you have any suggestions?

Several weeks ago I e-mailed you folks with a question about our youngest daughter who had AMC and got a quick answer. Brittany was born in 1975 and died seven years later. She was severely retarded but a very cheerful child who faced life with a quick giggle and a big smile while those around her (mostly her mother) fretted, denied, bargained (with God) and then gradually accepted it. The physical aspects I figured I could deal with but the acceptance of the retardation was the biggest problem. Yet I am a far better and entirely different person when she died than when she arrived. At that time AMC was so rare that the pediatrician who first examined her came up with chromosome damage. Then it took a geneticist to realize the true diagnosis. This was in Omaha which I see now has some great specialists!

Of course we didn't have the Internet back then and there was simply was very little if anything to know or learn about AMC condition, though of course it soon became evident that since she'd never sit up straight or walk (due to the retardation) then exercises, splints or surgery weren't really appropriate. How different it is today! Since AMC is so rare, the Internet and your web site in particular are an oasis of information in an otherwise desert of ignorance about this condition! Just by scanning through the chat room messages I see how much patients/and their parents learn through exchanging information! From what I read I realize now that Brittany's physical condition was rather minor compared to what I see in other children - but if I'd had your site back then perhaps I could have found someone else who's AMC child was also retarded.

I published a book about Brittany several years ago and this week I'll be reviewing it for a church group. And part of your information about AMC will be an opening display of what AMC is, its cause and treatment. I'll be able to demonstrate how much more informed parents/patients are today than when Brittany was born through sites like yours!. It's a wonderful instrument and opportunity to provide a service to those who would seek and possibly not find otherwise. [Editor's note: We asked Anne to send more information about her book.]…I've always thought Brittany's severe retardation was an unusual side effect of the AMC since from what I understand most AMC kids are just physically affected. But I've always been glad to talk about Brittany and the lessons she taught us. My book is Brittany, Child of Joy and it came out from Broadman Press (Southern Baptist Press) in 1986. It's out of print, but I have a few copies and I've always wanted to reprint it if I had the chance. It's Christian in emphasis but hopefully I don't preach, just state what happened to me and let that speak for itself. This is my first book (I have others in the works) and I've published in Christian and secular publications during my 20 some years as a freelancer.

I'm a Methodist and I've been on the staff of a large Methodist church here in Houston, Texas so you might use that address and e-mail address since it'd probably be easier (above).

Bryce With His Walker

I had written you previously about my son, Bryce, who was born with Arthrogryposis and just wanted to update you in the hope that other mothers and families can take hope in our story. Bryce's surgery to correct his feet was performed at Shriner's Hospital in Greenville, SC in October, 1999. The surgery which lasted 12 long hours was successful and he is now out of his casts and walking !!! with the aid of AFOs and a walker!!! We are thrilled. We anticipate another surgery to correct a hip which is out of place within the next 6 months if the surgeons decide he is positively a candidate. They will let us know soon - we will keep you posted.

My letter is in regards to information on arthrogryposis. I have a fifteen-year-old son who was diagnosed with arthrogryposis. We currently live in Sunrise, Florida. I'm interested in learning more about this disorder. My son is one of the more severe cases, I would say. He has deformities throughout his bodily joints. He has severe spinal deformity, club hands and feet. He had spinal surgery where three steel rods were placed in his spine, both hips reset, and foot surgery. At the present time, Nolan has limited function of his joints, but overall, her surprises me everyday. He's been placed in a motorized wheelchair for the last four years. He gets around well. When out of the chair and on the floor, his mobility is great by rolling from room to room throughout the house.

I wanted to know if there are any organizations in my area or some orthopedists in the area familiar with the disorder. I want to learn as much as possible about this disorder so that I can get my son Nolan the best help. In the past I've sought very little and received very little assistance with Nolan's care. At this time, the Elks hospital in Umatilla, Florida, has been the most helpful to Nolan with all surgeries. Nolan has benefited a lot from the surgeries.

It has been many years since I have written about my daughter Deborah, who is now 23 years old. My, how time flies…She is one of my four daughters and is an identical twin. She was born with severe paralysis and contractures to all limbs and joints, clubbed hands and feet, etc. We've also battled persistent scoliosis. There were no internal complications, thank goodness. She has had 13 major surgeries, including two full spinal fusions. The surgeries were all somewhat successful - at least they halted any further skeletal regression. We've done the whole nine yards with physical and occupational therapy, of course, until she reached adulthood when growth stopped and we decided that she had the body and skills that she would have from then on.

Deborah basically does what a high-functioning quad would do. She can type with a pencil stuck between her clubbed fingers, and she pushes the hand controls of her motorized cart with the back of her hand. She can eat finger foods by grabbing the food in her left hand, hoisting that hand onto her right arm, and leaning her mouth down to catch the food. There have been some hilarious misses with food flying everywhere. She has a wonderful sense of humor, which helps. She has to have assistance with every life skill and all personal grooming. She wears one full-length locked leg brace. She walked some with a helmet and walker when she was little, but several horrible falls led to prolonged seizures and five years on Dilantin.

Added growth and weight and lack of successful scoliosis treatment has made it difficult for her to walk just for short distances without full support with another person. It is doubtful that she will ever be able to drive. Being a single parent, I worked at home all these years so that I could take care of Deborah and my other daughters. She graduated from high school in the Level 5 OH program and went to our local community college part-time for two years. Our county has subsidized disabled transportation in the form of mini-buses and cab service, although late or missed pickups and deliveries were more common than we had hoped. She has gone to an annual summer camp for disabled children/adults every summer, which has given us a 10-day break each year.

Finding adult services has been a challenge. Our state DDA office was less than helpful and often quite condescending. Her state DDA assessment upon high school graduation noted that she wouldn't be helped by any further education or training! Her SSI counselor was lovely and helpful, however. We went to the DuPont Institute in New Jersey for extensive training and evaluation. She has a wonderful pediatrician who has continued to be her doctor and her friend. She now likes to ride the regular Metro buses to and from work, doctor, shopping trips, etc. even though they don't always have a wheelchair lift at all or one that is functioning at the moment. Our subway system is very good, however, and she takes that to go into downtown D.C. or to see her father in suburban Virginia.

Our success story - one that I hope will give parents of severely-disabled AMC children some sense of the future - centers around Deborah's independent life. I fought the state DDA for years for services and finally got a small amount of aide service before school each school day. I put her on numerous housing lists and program lists. We both decided that she didn't need or like the few adult day programs that were offered, since they mainly addressed the needs of the elderly. Finally, in December of 1998, I had the accessible 2-bedroom apartment in hand but no supporting services. I had called all possible avenues, including political representatives, when in desperation I called our governor's office and actually got the secretary of health on the phone. Within two days, we had a DDA permanent grant for aide service which covers morning, noon and evening hours. We are still trying for fuller service to cover nights and more weekend hours.

Our church gave Deborah a big new-home shower, and she moved in. Her twin sister Elizabeth is her roommate - free rent did the trick! She is very good about covering emergencies and running errands and shopping for the two of them. In fact, they had grown apart quite a bit during their teenage years, so this was a pleasant surprise for me and for Deborah!

Deborah now works full-time at Home Depot. She races around the huge expenses of the warehouse-like store. She waters plants, collects trash, and leads the large forklifts through the maze of aisles and customers. She is assertive and very vocal, and every time I go to visit her she has a new nickname and is part of the 20's-something crowd that works there. I nominated Home Depot and Deborah for the Montgomery County disabled employee-employer award of the year in 1999, and they won! I teased her boss that he can't fire her now that he has this lovely glass/marble award on his desk. She takes the bus to and from work and often buzzes on major streets to go to McDonald's or some other culinary outlet. When she needs help from a stranger, she just asks for it!

For the first time in 22 years, I am not a primary caregiver! It still amazes me, and I never would have guessed that we could ever reach this point for both of us. I am now working outside the home and enjoying the sights and sounds and people (but not the commute!) in downtown Washington, D.C. These changes did not come without costs - I sold my big house when Deborah moved out and my ex-husband stopped child support payments against the existing court order. We all had to give up memories of how things were and move on to new physical and emotional arrangements. We also have had to deal with the results of years of stress and exhaustion and family patterns.

Deborah keeps her own checking and savings accounts, maintains her employment, schedules her aides, and lives her life pretty much under her own steam. She even handles the emergencies that are presented when her cart breaks down. I still do some shopping and grooming and emergency runs for her, but we are basically free women who each have a life of her own. It is simply miraculous. Don't give up hope - there are lots of people who will help, and when you find those who won't - you go around them or through them!

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Pen Pals

My name is Lauren Faraino and I'm in 3rd grade and 8 years old. I live in Birmingham, Alabama and I was born with arthrogryposis. When I was 18 months old I had foot surgery at the DuPont Institute. I can walk with long-legged braces but I have to have someone very close to me because I can't catch myself if I fall. I have broken my arm three times from falling. I can only stay in my braces 90 minutes or my feet and knee will begin to hurt. When I began Kindergarten, we bought a power wheelchair that is controlled by my feet. In second grade we bought a beach wheelchair that helps me around at the beach.

My favorite hobby is art but I use my feet instead of my hands. I take art lessons once a week. Every week I get a massage to loosen up my joints and I go swimming twice a week. I already have one pen pal with arthrogryposis and would like to have more.

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Short Notes

New Information Resource
DIRLINE (Directory of Information Resources Online) is the National Library of Medicine's online database containing location and descriptive information about a wide variety of information resources including organizations, research resources, projects, and databases concerned with health and biomedicine. This information may not be readily available in bibliographic databases. Each record may contain information on the publications, holdings, and services provided.

DIRLINE contains approximately 14,000 records and focuses primarily on health and biomedicine, although it also provides limited coverage of some other special interests. These information resources fall into many categories including federal, state, and local government agencies; information and referral centers; professional societies; self-help groups and voluntary associations" academic and research institutions and their programs; information systems and research facilities. Topics include HIV/AIDS, maternal and child health, most diseases and conditions including genetic and other rare diseases, health services research and technology assessment.

DIRLINE is available through a simple to use interface at http://sis.nlm.nih.gov/dirline. It is also available through Internet Grateful Med, a system developed by NLM to offer interactive assisted searching for some of its databases. DIRLINE can be searched using subject words (Such as disease or condition) including Medical Subject Headings (MESHS) or for the name or location of a resource.

Bike for Persons with Arthrogryposis

Eric On His Step n' Go Bike

A bike that several people have recommended for those with arthrogryposis is the Step n' Go manufactured in Vermont. The rider can power the bike by shifting his weight from on foot to the other. Adaptations can be made for braking and hand position. On the company website (www.stepngo.com), one of the featured stories describes a nine-year-old boy with arthrogryposis who is using a Step n' Go:

"The challenge was to design a steering system Eric could use that didn't require using a hand brake. Using high rise handlebars upside down and backwards, we located the handgrips near Eric's natural hand position. With the stepper pads only 4" off the ground, Eric can easily mount his Step 'n Go and pedal by doing a simple weight shift. For braking, we designed the unique "Belly Brake", which Eric operates by leaning on the chest pad."

The cost of the bike is substantial ($1299) but it may be covered by your insurance. For further information, contact:

Treadle Power, Inc.
6 Linden Terrace
Burlington, VT 05401-4928
800-648-7335 or 802-862-2980
email: info@stepngo.com
FAX: (802) 864-6156

 

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