Disorder Zone Archives Picture Disorder Zone
Archives

 

Arthrogryposis Multiplex Congenita

Arthrogryposis Multiplex Congenita Poster Child
Dylan Brown

Arthrogryposis Multiplex Congenita Poster Child
Jess Daniel

Introduction

Arthrogryposis Multiplex Congenita (AMC) is a musculoskeletal disorder characterized by the presence of multiple joint contractures (limitation of the range of motion of a joint) at birth. In some cases, only a few joints may be affected, however, in the classic cases of AMC, hands, wrists, elbows, shoulders, hips, feet, and knees are affected. In the more severe cases, joints in the back and jaw can be affected as well. In addition to having joint contractures, children also experience muscle weakness, which further limits movement.

There may be as many as 10 to 20 different arthrogrypotic disorders, all with similar joint manifestations. However, the most common form of AMC is amyoplasia. There are many different causes of AMC, but typically it is a result of either problems with joint growth and development, decreased fetal movement (not enough room in the uterus to move), or problems with spinal development in the first 3 months of pregnancy.

AMC occurs in 1 out of every 3,000 live births. In most cases, AMC is not inherited and does not occur more than once in a family. However, in about 30% of the cases, a genetic cause has been identified.

 

Features and Characteristic

The following features can be seen in some children with AMC:

 

Diagnosis

A diagnosis of AMC can sometimes be made during pregnancy; ultrasounds at approximately 20 weeks gestation may show abnormal position of joints or lack of movements in joints and limbs, indicating the disorder. Otherwise, the diagnosis can be made by an orthopaedist based on clinical symptoms and findings.

 

Treatment

There is no cure for AMC, however, there are treatments that can help children live very full lives. For many, physical therapy has proven to be beneficial to strengthen muscles and improve range of motion. Splinting and bracing can also help improve range of motion. If these traditional treatments have not produced positive results, surgery may be necessary. Surgery can be done to put feet in position for standing and walking and can also be done to knees, hips, elbows, and wrists to achieve greater range of motion. And, in some cases, muscle and tendon transfers can be done to improve range of motion.

 

What to Expect

Fortunately, AMC is not a progressive disorder, so it will not worsen with age. However, children must receive medical treatment to prevent joints from stiffening as they grow. Most children with AMC have some walking ability. Bracing and other treatments mentioned above will certainly help to make walking easier. AMC may be accompanied by other disorders, such as a central nervous system disorder, however, in most cases, the long term outlook is positive. Most individuals with AMC are of normal intelligence and are able to lead productive lives.

 

Personal Stories

When I found out I was pregnant with my first child in August 1997, my husband and I were absolutely thrilled. The first trimester went by fairly uneventful, although I had excessive nausea. The doctor quickly reassured me that some women have more nausea than others and it would probably begin to let up after 12 weeks gestation. It did and I felt free to enjoy my pregnancy. At 18 weeks, Jeff and I went for a routine ultrasound to find out the sex of our baby. Instead, we got horrible news. The baby did not appear to be developing normally skeletally and that was probably an indication there were more severe problems that they couldn't detect with their level 1 ultrasound. My primary OB-GYN sent me to a perinatologist in Atlanta who did a level 2 ultrasound at about 20 weeks gestation. We found out we were having a boy!! YEAH!! They had no idea what was wrong with him. His rib cage was not growing normally, but the rest of his body was in the 90th percentile. His rib cage was less than the 5th percentile. As the perinatologist explained to us, had his entire body, along with the rib cage, been in the 5th percentile, they wouldn't be as concerned, but what this meant, was that his lungs would only develop to the size the rib cage allowed. At that time, his ribs/lungs would not have been large enough to support a body so much bigger. His hands were clinched, indicating more problems and his feet turned inward. The perinatologist told us the baby had a broken shin bone and broken ribs. He measured his limbs and recommended an amniocentesis as he was 99% sure the baby had Osteogenesis Imperfecta (brittle bone disease) - which is fatal if found in utero. The amnio ruled out OI. There were no chromosomal anomalies. Back to square one. The specialist pressured my husband and me to terminate the pregnancy, stating that the baby had a less than 3% chance of even making it through the pregnancy and no chance of surviving. Three times he insisted and three times we refused. He then told us we would have to find another doctor. He wouldn't watch parents allow their child to be born to suffer and die. My husband stood up to this callous pitiful excuse for a doctor and told him we would take what God gives us in a child. He was our baby and we would let God decide whether he lives or dies, but we would take every measure possible to save him and give him the life he deserves. And we left. It was 2 days before Christmas.

We couldn't get an appointment with another specialist until the end of January 1998. In the meantime, I saw my OB-GYN. The baby never ever moved. His heartbeat was strong, but he didn't wiggle, roll, hiccup, nothing, which reinforced our fears that he was weak and probably not going to make it. Every week they did an ultrasound, I held my breath until I could hear his heartbeat... and I prayed. The second perinatologist was not very experienced and referred us to his colleague. The third doctor told us our son’s chances were 50/50. Some hope!!! He studied and he researched along with the neonatologist at the local hospital where I planned to have him as a scheduled C-section (hopefully) 2 weeks before my due date. No diagnosis could be found. We would have to just monitor him and wait and see. Twice a week I had an ultrasound and twice a week they told me more bad news. At 34 weeks, I went for my scheduled visit alone and I just sat in the parking lot and cried. I did not want to go in and find out one more thing was wrong with my son. But something pushed me to go in. Was it God? Motherly instinct? I don't know, but I knew it was necessary because something was going on. Fluid had started to collect under the baby's skin because he was under so much stress being unable to move and was getting so big. He had the beginnings of fetal hydrops. The only way it can be treated is to deliver the baby. Otherwise, he could die within 48 hours. My C-section was quickly moved to the next day, 34 weeks gestation, March 20, 1998.

We arrived at the hospital around 9 AM and tried to prepare ourselves for the death of our son. First they took us to the consultation room (always bad news) and the neonatologist told us that the hydrops lessened his chances even more. They were as prepared as they could be for him. Two neonatologists, four respiratory therapists and two NICU nurses were all in the delivery room just for him. They told us to prepare for a 4-6 month NICU stay if he survived.

They hooked a monitor up to me and I could hear his heartbeat, very strong. I wondered if it would be the last time I got to hear my son's heartbeat. At 1 PM, they took me to the operating room. We had all of our family waiting and praying anxiously in the waiting room.

Ethan Nicholas was delivered at 1:27 PM, weighing 4 lbs. 13 oz. He was immediately intubated and rushed to the NICU to be examined. X-rays showed that he had 2 broken femur bones to be of immediate concern, but otherwise, was doing wonderfully. Over the course of the next few days, he grew stronger and stronger and didn't seem to have any lung problems whatsoever, aside from being 6 weeks premature. The femurs were broken during delivery. Because Nicholas' prognosis was undetermined, my OB had no choice but to pull him out as fast as he could so that he could get the medical treatment he needed.

Once Nicholas was born, I never felt he would die. I knew he was a fighter and had a will to live. He was diagnosed as having severe Arthrogryposis Multiplex Congenita and scoliosis. He came home at 17 days old.

To date, Nicholas is now 2.5 years old. He has a G-tube and is in an electric wheelchair, which may or may not be permanent. He has dislocated hips, hand deformities, limited movement in his body, scoliosis, clubbed feet and no left knee cap. He has no cognitive delays at all. In fact, I just recently had him evaluated and his language skills were at 4 years old!

He has had 5 surgeries and has weekly occupational and physical therapy. We're actively trying to teach him to eat by mouth. He is the happiest, best baby I could ever ask for. I never for one moment have regretted having him and I cannot imagine my life without him. He is a precious gift from God and I am honored that God has trusted me with such a delicate little person. We have a long road ahead and a lot of goals to meet, but with his positive attitude and drive for life, I know he will be anything he wants to be. - Anonymous by request

Dylan was born on November 20, 1998 with Arthrogryposis Multiplex Congenita (AMC). This was a blessing in itself since multiple doctors told us that he wouldn't survive long after birth. When we first saw Dylan, he was curled up in a reverse fetal position with the back of his head touching his backside, his left leg had grown up towards his head, and his little arms were so tight against his body that they couldn't be moved at all. None of that mattered. He was alive and he was just perfect to us. Dylan was also born with a bowel obstruction and a hernia, which he had surgery for when he was 1 day old. He was diagnosed with AMC shortly after birth, and we began aggressive therapy as well as serial casting for his clubbed feet when he was 3 days old. Dylan had both legs and arms broken during exercises and handling while he was in the hospital, but made it home to us when he was just two weeks old.

Dylan is almost 2-years-old now. He is affected by AMC in all of his joints including his neck and back and has one dislocated hip. Dylan is extremely weak and has very little voluntary movement. He doesn't crawl or walk and can't do many things associated with a typical two-year-old, but he is a smart little boy. Dylan has learned to sit up independently, stand with support from his stander, and he is now teaching himself to scoot on his side. He is filled with so much joy, which he passes along to everyone he meets. He has a smile that lights up the room. Dylan has brought so much happiness into our lives and has given us so much to be thankful for. No one could have dreamed he would come as far as he has, and only he will tell us how far he will go. Dylan is our little angel. - Jaime Brown

My son, Jess, was born just 3 weeks before Christmas and he is still the best present I have ever gotten. We had no idea that anything was wrong until that day. He was only 6 days early and he weighed in at 5 pounds 9 ounces. At birth he had contractures of the knees, hips and elbows, his feet rolled slightly inward, his hands were balled tightly together and his arms looked like they had been trapped behind his head. He spent 2 days in the NICU and, in spite of it all, was healthy enough to come home. Before we left, I got a list of doctors and a physical therapist to take him to see and we started physical therapy a week later. It can be very frustrating at times when dealing with a child with AMC because there is no quick fix. We were very lucky with him because he didn't have any of the other possible related disorders so his limitations are only ones of mobility. He'll soon be 5 years old and can stand against the furniture but cannot take a step, but believe me when I say that he more than makes up for it by scooting on the floor or when he's in his wheelchair. He's in a great Pre-K program that has an inclusive classroom and the best teachers that I've ever known. He's a very happy child with an imagination and a will that seems to never end. He loves to get out on the playground with the other kids and swing and play. He's also a very loving child; if you're sad, he's the first one to offer a hug and a smile. Though it has been difficult at times, I have tried to not treat him like he was any different than any other child. As a mother, I want to help him when I see he's having a hard time and struggling. I have read a lot of posts and messages lately on bulletin boards and other support sites and the one thing that I am reminded of are the ones written by teens and young adults who have AMC. They tell how you (as a parent) have to let them, and sometimes make them, do things themselves. So that would be the best advice that I could think of to give anyone; it seems to have been working for Jess. The only thing I would trade him for would be another wonderful little person just like him. - Lynn Lindsey

I have a daughter whose name is Sara and she has Arthrogryposis. This disorder affects all of her extremities, both upper and lower. She just turned 7 years old, and has the best personality and smile you'd ever want to meet. She is in first grade this year and is loving it; she is one of the top readers in her class and she can do everything else that the rest of the kids do except for the hand and arm movements in songs or stories and the physical needs for gym.

Sara was born in 1994 and she was my first child. I thought everything had to be fine with her, but of course I didn't know anything until she was delivered. I had a C-section, and after she was delivered, I was not permitted to see her until the anesthesia wore off. Then I went to the NICU to see her and I was glad but devastated. What had happened? Did I do something wrong? It wasn't until 2 days later I was told what it might be that Sara had. They sent in a doctor to tell me that it would be best to take Sara to Children's Hospital in Philadelphia to get a correct diagnosis. Both my husband and I took her there, and it took 6 doctors and interns to return and tell me that she had Artrogryposis.

The next thing they could tell me was that the only thing they would do was to cast her feet and hope that it would bring them down. There was also a statement made that Sara had a 50/50 chance of ever walking. Well, we were there for 3 to 4 months getting boot casts on and boot casts off, and then someone told me about the Alfred I. DuPont Hospital for children, and that was our next step.

After the holidays, we took Sara to the DuPont Hospital for evaluation and they knew right away what she had and the steps to help. At that point, I started to feel some relief. They did one surgery on Sara to place her hips in the right way (not that she was out of joint per se, but she was permanently in the form of an "H"). They did the first surgery and it changed her immensely. She now has her hips in-line, just like you and me. Then about 6 months later, they operated again to bring her feet into alignment and bring her heels down. This surgery worked a little, but with bracing, she is much better.

Sara has both a pair of KAFOs and MAFOs. She wears the MAFOs to school and at home everyday just to keep her feet from retreating, and she wears the KAFOs when she is walking with her walker. Sara can walk using her walker approximately 100 feet. I am really happy and grateful to all the staff at A. I. DuPont to this day for making a change in my little girl’s life. Although her greatest way to get around is the use of her motorized wheelchair, which she maneuvers with her head, and does very well with, even better than those of us who drive.

To this day, Sara has figured out how to use her hands to color, paint, draw, write her letters, and even use the computer, even though they are turned and bent in. She is very popular at school - if you need someone to chase you, Sara is your girl. Or if you need someone to talk to or play pretend, she's always ready and willing to be there.

My husband and I have always said if God gave us a day where he'd say he'd take her and "fix" her, we'd do it for her, but if we could exchange her for someone else, we'd have to pass. Sara could make even the person having the worst day feel better, just by smiling at them.

In closing, I would just like to say, no matter what the problem or problems are with your child, just remember "God doesn't make junk" and treasure what you have because there is always someone out there who is worse off than you. - Erin Gaver

 

Resources

If you are interested in meeting other parents who have a child with Arthrogryposis Multiplex Congenita, please send a message to avenues-owner@onelist.com for directions on how to subscribe to the discussion list.

For more information on AMC, please see the following references:

 

The Disorder Zone has been created for educational purposes only and is not intended to serve as medical advice. The information provided in The Zone should not be used for diagnosing or treating a health problem or disease. It is not a substitute for professional care. If your child has any health concerns, please consult your health care provider.

Welcome | Editor's Note | Success Stories | Horror Stories | Family Issues | Legal Files | Information Avenue | Disorder Zone | Archives | Diagnosis Search | Tips | Bulletin Board | Marketplace | Parent-Matching Program | Suggestion Box | Guestbook | Sponsors | Donations | Featured Special Child | Home

Copyright © 1997-2001, The Resource Foundation for Children with Challenges. All rights reserved.
By using Special Child and related services, you agree to abide by the terms and conditions.