newsletter: vol. XIX, no.1, October, 1998

Contents:

Baby in Need of Adoption

From Teri Bell, Americans for International Aid and Adoption:

Over the years, you have helped me get the word out on children with arthrogryposis around the world who are in need of families. Once again, I need your help. On a recent trip to Russia, I identified two children and they are ready for placement. I will attach information on one of them, Artom, b. 3/20/97. This beautiful little boy was born with arthrogryposis (a genetic disorder that significantly affects the joints of his body). This little guy is a fighter and a baby with a great deal of spirit. Despite his resulting disabilities, he plays with toys, and charms everyone who sees him. Although he is sensitive to strangers entering his space, he has wonderful smiles for his caretakers and the people he has become comfortable with. In every way that is possible for him physically, he is age appropriate. He is responsive, bright, and alert. He rolls over to get to the objects he wants to play with, is babbling and just beginning to form words. His hands are less affected than his legs which cross over completely at the knee area. He is able to use, or move the fingers on his right hand so that he is able to reach out and manipulate some toys enough to grab them and play with them. He has some very special needs, but no one has told him yet.

There is yet another little guy with arthrogryposis in Russia. His name is Sergey and he was born on 1/17/98. I do not have as much information about him at this time however. For more information, contact:

Teri Bell
Americans for International Aid and Adoption
877 S. Adams
Birmingham, MI 48009-7026
(248) 645-2211 general information
(612) 687-0259 or aiaateri@aol.com for child specific information

[back to top]

Seattle Arthrogryposis Clinic Contact

The new contact for the Arthrogryposis Clinic in Seattle is Shannon Coleman, Patient Care Coordinator, Children's Hospital and Regional Medical Center. Shannon's telephone number is (206) 526-2180.

[back to top]

Southern California Support Group

From: Pat Petersen
23409 Gilmore St.
West Hills, CA 91307
818-329-0541
e -mail: PVPetersen@aol.com

I am the mother of a beautiful 2 1/2 year old girl who was born with arthrogryposis. I am currently finishing my Master's Degree in occupational therapy at USC and will be a practicing therapist, with an emphasis in pediatrics beginning in December 1998. I am interested in forming a support group for families of people with arthrogryposis. I would like to arrange to meet with other family members in the Southern California area. If you would be interested in joining a support group please e-mail me.

[back to top]

AMC Bulletin Board Out of Service

The AMC Bulletin Board coordinated by John Sneddon on the Internet, is temporarily out of service. The providers of the Internet site have apparently ceased operations. John is currently seeking a new host site. In the meantime, he can be contacted at amcchat@aol.com. John is still hosting on-line chats. Chats are held every Sunday evening starting at 9 PM EST. For complete information about how to connect to these chats, visit the webpage: http://members.aol.com/xetro/amchat.htm

AMC Surveys

Two surveys on aspects of AMC have been placed on the Internet by John Sneddon. One deals with aspects of aging and AMC and the other focuses on the challenges of motherhood for women with AMC. The surveys can be found at:
http://members.aol.com/amcchat/aging.htm and
http://members.aol.com/amcchat/motherhood.htm. If you do not have Internet access from home, try your local public library.

[back to top]

Genetic Aspects of Arthrogryposis

From: Mike Bamshad, MD
Department of Pediatrics
Eccles Institute of Human Genetics
University of Utah

My name is Mike Bamshad and I am a pediatric geneticist. Over the last few years, our lab has been working toward identifying genes for multiple congenital contracture disorders. Given the recent correspondence in this forum about the genetics of arthrogryposis and AMC, I wanted to try to clarify a few points.

Arthrogryposis is somewhat arbitrarily defined as non-progressive limitation of movement in two or more different body areas. Thus someone with bilateral clubfoot may not be classified as having arthrogryposis, while someone with a clubfoot and hip contracture would be labeled with arthrogryposis. Thus, this term is only a description, and a somewhat non-specific one at that. Note also that geneticists, orthopedic surgeons, and pathologists often use the term differently.

As many of you have noted, the term arthrogryposis encompasses more than two hundred different diagnoses. For many of these disorders, arthrogryposis is a feature, but it is certainly not the major cause of problems or a fundamental component of the disorder. For example, children with Trisomy 18 (3 copies of chromosome 18) or some neurologic disorders (e.g., myotonic dystrophy) may have multiple congenital contractures at birth. Yet, it is clear that these disorders are not primary abnormalities of connective tissue such as bones, tendons, and muscle.

On the other hand, for arthrogryposes such as the "distal forms," it appears much more likely that these are due to abnormalities of connective tissues.

For many arthrogryposis disorders, it is unclear what is the primary abnormality. This is one of the active areas of investigation. That is, many physicians and scientists are trying to determine how to differentiate between these disorders based on clinical features and findings.

So how does this help clarify the confusion about inherited and non-inherited forms of arthrogryposis? Well, by making a definitive diagnosis, much more information about the cause and inheritance pattern may be learned.

To continue with the above example, some disorders in which arthrogryposis may be a feature (e.g., myotonic dystrophy) are inherited. Other conditions associated with arthrogryposis (e.g., Trisomy 18) are present at birth (i.e., congenital) but are not inherited. Additional findings in these disorders usually point toward a specific diagnosis, but not always. By making either of these diagnoses, much more specific information is available to families.

People using the term arthrogryposis do not always draw distinctions between a more specific diagnosis and the use of the term as a definitive label. However, many children and adults with "arthrogryposis" do not have a more specific diagnosis.

So are there inherited and non-inherited forms of "isolated" arthrogryposis? There are a substantial number of disorders in which multiple congenital contractures are the primary findings. Many of these disorders appear to be sporadic but are hard, if not impossible, to differentiate from each other. Sometimes there are multiple individuals within a family that are labeled with arthrogryposis, but they have no specific diagnosis. Therefore it is challenging to draw definitive conclusions about the mode of inheritance, the range of clinical variability, and the natural history of these disorders.

There are also disorders (e.g., distal arthrogryposis type 1, Freeman-Sheldon syndrome) that are clearly inherited, but can be difficult to diagnose in the absence of an affected relative (i.e., a positive family history). Thus, there are X-linked, autosomal recessive, and autosomal dominant disorders causing multiple congenital contractures.

Moreover, a substantial portion of the population of individuals with arthrogryposis are told that they have AMC or amyoplasia. Again here, it appears that there are multiple causes for the same types of problems.

Most families have only a single individual with AMC or amyoplasia. However, it is clear that there are some families having more than one child with AMC, and thus there may be a single gene that is causing the arthrogryposis in these families. It is less clear how to differentiate these families from the ones in which AMC appears to be sporadic.

What about reduced fetal movement and arthrogryposis? Any process, event, or structure, which results in reduced fetal movement can also produce multiple congenital contractures. Many of these events lack a genetic component. For example, a woman with an abnormally shaped uterus could have a child with congenital contractures due to the cramped intrauterine environment. She may even have more than one child with multiple congenital contractures, yet this is not because she or the child's father are passing on a gene(s) causing the contractures, but because the movement of both children was restricted because of her uterine abnormality.

Sometimes it is difficult to determine if a process, event, and structural abnormality is the cause or if a child has a sporadic or inherited cause of multiple congenital contractures as described above.

What about the genetics of primary multiple congenital contracture disorders? To date only one gene responsible for a primary multiple congenital contracture disorder (congenital contractural archnodactyly) has been cloned. For others such as distal arthrogryposis type 1 and a variant of Freeman-Sheldon syndrome, we know the crude genetic location, but have yet to identify the gene.

Clinical genetic testing for these disorders is not available, and research testing is limited by the informativeness of families (i.e., size, # of affected individuals). Prenatal diagnosis via ultrasound examination is certainly possible, but not 100% reliable (indirect genetic testing would not be 100% reliable either). A few scientists are working toward cloning these genes but it has been slow due to the overlapping features of many arthrogryposis disorders and the availability of large families with arthrogryposis disorders. This is changing.

Additionally, the advances and resources emanating from the Human Genome Project are making novel gene-identification strategies much more feasible.

Re-printed from the Arthrogryposis Discussion Group with the author's permission.

[back to top]

From Families Around the World

From: Barbara & Stephen P. Burke
8238 11th CT. SE
Olympia, Wa 98503
(360)438-9412
e-mail: Burkclan@ix.netcom.com

Since we have written last time in Avenues newsletter a year and a half ago, we have received over 50 letters requesting information about the dressing stand Seattle Children's Hospital had designed and also, the new polypropylene day splints made for my daughter.

I have tried to keep up with all the requests, but found it an expense to send out color printed zerox copies of the photo's of these. I would like to request that all future requests for this information be enclosed with $3. along with a self-addressed stamped envelope, to help cover the cost of printing these out at Kinko's. Thanks.

An update on our daughter, Josepha, who will be turning 5 in Sept. (We will have a webpage on her up in another month). She was seen at the Arthro. Clinic in Seattle, this past Spring, and they have found she now has full rotation in her shoulders, and is fully able to bend both elbows and bring her hands to her mouth independently. We installed a swimming pool 2 years ago, and believe this has been a significant aid in strengthening her arm and shoulder muscles. I recommend a swim program for therapy.

Josepha is able to completely dress herself and buckle or tie her own shoes. She can take care of her toileting needs independently as well as brush her own teeth. She can color, draw and write better than the average 5 years old, and can feed herself with no problem, with the help and assistance of a backrest on her chair. She is now able to pick up any size glass to drink from. We started with a very small shot size glass that she could grasp with one hand, and worked our way up to larger glasses. I noticed at the beach the other day, she is able to carry a large bucket of water up the beach and dump it. Somewhere early in her 4th year, she became less hesitant and fearful of doing things involving large motor skills. She has become more fearless in this area, along with speed in climbing, and running. She just recently learned to master swinging on a disc swing, holding on with no back support, and sitting upright.

We recently enrolled her in Sunshine Generation, a children's singing and dancing company. She continues to wear night splints; however, I have found it hard to keep them on her at night. I usually find them on the floor in the morning. I have tried different incentives on her to encourage her to keep them on , with only some success. Any ideas?

She is at an age in which she loves using the mouse on the computer and does very well. She is also at an age where she is able to exercise her arms on her own because she wants them to grow stronger. She plays along side of her year older sister and sometimes notices the differences in their capabilities. That actually encourages her to exercise. One of the exercises we have been encouraging is to eat 3x's with her left hand at every meal, since she prefers her right. This has strengthened her left arm to the point that she often feels as comfortable using it now as much as her right.

Being raised in a family as youngest of 5 children, has given her a lot of reasons to want to keep up. She never wants to be left behind, and usually insists on doing things for herself. Recently she has learned to open our sliding van door, and climb in, hooking her own belt on her carseat. That's an example of how she tries to keep up.

I appreciate hearing from so many of you and was happy to share the video I made-up of her in different stages of development. I hope it has helped. Josepha was adopted, and we chose her to be a part of our family, born with this condition. We made the decision to take on arthrogryposis, and prepared and planned for her acceptance into our lives, and therefore, see ourselves a bit differently than those of you who were taken by surprise over this condition. I knew ahead of time, and prayed to God to be the kind of parent this child needed to gain independence. I was not as great of mother in that area to my other children, but was given the insight beforehand to know that would be my approach for this child. I have to tell you, Josepha is one of the brightest jewels in my crown as mother. She is especially gifted and loved, and although it has been extremely hard at times, to hear her tantrum over frustrations, I have had to allow her these times, in order to grow. She sees herself as an angel-helper to God to allow others to see his love through her life. I believe this is true of all who have been chosen to live "differently" than the norm in this world.


From: Clinton Ritchie Stark
40 Corstorphine Park Gardens
Edinburgh EH12 7HJ
Scotland
e-mail: User691914@aol.com

Hello, my name is Clint Stark. I live in Edinburgh, Scotland. I have Arthrogryposis Multiplex Congenita. I have had 14 operations, 11 to my arms and 3 to my spine. I have been in and out of the Princess Margaret Rose Orthopaedic Hospital. I have had five shoulder fusions and also three major spinal fusions. I had halo traction on for 9 months when I had my spinal fusion. If I can help anyone feel free to write or e-mail me.


From: Miriam Osborne
1490 Queen St. W
Brampton Ont. Canada
L6V 1A1
e-mail: 694183@ican.net

Hi, my name is Miriam Osborne. I'm in Grade 10 and will be turning 16 soon. I have Arthrogryposis and Scoliosis. All my life, it hasn't really been a problem for me. I can walk with the help of braces and I don't have much use of my hands. The reason it hasn't been much of a problem is because I don't let it be. I work around it. I'm in Drama nights at my school, I was involved in the vocal Jazz groups and I write for the school newspaper. I plan to be a Journalist.

Before I tell you my problem, let me give you a little bit about my background. I was wearing braces on my legs on and off from when I was three until I was eleven, and I've been wearing them constant since. I also wore splints on my hands from when I was born until I was twelve. The doctors told my parents that I wasn't going to ever walk, so I was in a wheelchair for two years, (4-6) but I had an operation on my legs and I now walk. (I always prove the doctors wrong). I broke my arms eleven times and sprained them twice when I was between the ages of 4-12. I haven't broken them since (knock on wood).

Now for the problem. One morning, in December, I woke up to a very sharp pain in my back, (I have always gotten cramps in my legs but never in my back). It was really sore so I stayed home that day. No big deal. It didn't get much better after that but I didn't take any more days off until some day in March because I tried to ignore it. The second day I took off, it was really sore, more than the first. At our school we have three floors and an elevator. I hate the elevator. It's so small and old, so I always use the stairs, and it hasn't been a problem. Until now because my mom thinks, with the weight of my bag, and the stairs, it isn't exactly going to help my back at all so I try to use the elevator a bit more. My parents started getting a little worried when every day my back would hurt, and I started getting massive headaches. I just thought if a take tylenol, it would be fine, but now, for the past few weeks, I'm starting to get chest pains and I'm getting tired quite easily. (I'm a pretty active person).

About a month ago, my mom said that I have to go see the doctor. I didn't want to go. I hate going to the doctors. So, when we got there, I told my doctor about my back, but not my chest because that started after. Now, the thing that kind of bugs me about going to see this doctor is that, he doesn't know much about Arthrogryposis. He told me that I'm his only patient with it. (I always liked being original) But as the appointment went on, he started saying things like maybe if I didn't walk as much it wouldn't hurt as much. Then he said 'how about a wheelchair, oh don't worry, only for a couple of months' And my mom agreed. I said NO WAY!

Now, please don't think that I'm just a stubborn teenager who doesn't know what's good for me, because I do, more than anyone. And I know that I would never be able to survive in a wheelchair, and since I can't use my hands much, it would be a push wheelchair, and I would not want someone pushing me around all the time. After that appointment, I decided I wasn't ever going to go to another one again. As much as my parents think it would be best for me, they have respected the way I feel. I don't complain about my head, back and chest much anymore. Not because it doesn't hurt, but, I don't want to hear my mom saying that I'm making it worse quietly under her breath. I bought myself some tylenol for school although, it doesn't work much. What should I do? Please E-mail me at 694183@ican.net I want to once again prove the doctors wrong.


From: Ruth Judd
4723 Sunflower Dr.
McKinney, TX 75070.
e-mail: Ruth.Judd@gte.net

I'm really glad I found this support group. I have a 7 month old son diagnosed with AMC. His doctors did an MRI shortly after birth and found that he had experienced an in-utero stroke. They also noticed that he had an abnormal pituitary gland, which means he will be taking synthetic hormones, including growth hormone. I have read the Avenues newsletters, and am new to the Internet, but from what I have read, this is not a common multiple diagnosis. I recall someone mentioning their child having small stature, and I am wondering if any of you have had MRIs of your child's brain.

As far as my son's AMC condition, he has bilateral club feet, with slight contractures in his wrists. He has weakness in his shoulders and arms, but is able to bend his elbows and bring his hands to his mouth. I am hopeful that he will be able to feed himself on his own. Andrews hips are in good shape, although he may need some releases in his knees. They are slightly contracted. The doctors at the orthopedic children's hospital in Dallas have recommended that we forego casting of his feet, saying that it is not worth my time, and would rather perform surgery on his feet when he is able to bear weight on them. This has been distressing for me, as I have read so many cases where casting is being done, but the doctors have said that the contractures have a high rate of reoccurrence after casting in AMC cases. Any insights on successes or failures of casting?


From: Nalini Heidi Blumer-Buell
1825 East West Rd
Honolulu, Hi 96822
(808) 957-1055
e-mail: nalini@hawaii.edu
(or you can send mail to my parents at S.R. Box 111
Hana, Hi 96713 (808) 248-8972
).


Hi! My name is Nalini H. Blumer-Buell, and I have AMC! I believe that my parents John, and Christel sent a letter from Hana a few years ago, and I wanted to give an update. I am now a 22 year old Senior at the University of Hawaii Manoa in Honolulu. I have decided to major in English, and plan to graduate in two years. I live by myself in a dorm, I drive a scooter, but can walk short distances. Aside from school, I am president of the dorm activities council, and an active member in the church choir. I enjoy reading, writing, singing, swimming, and having fun. I would be interested in hearing other people's story of college success, and also what they did after college. I am getting to the point where I am thinking about the next step.


From: Ann Todd
3 Plessey Crescent
Whitley Bay
NEWCASTLE-UPON-TYNE
NE25 8QJ
United Kingdom
e-mail: tmeek@compuserve.com

I am writing for further information to help my son Jonathan who is 8 years old. Jonathan was diagnosed at about 7 months old. Mainly, his arms, wrists and hands are affected, although he also had a right sided talipes. Despite having almost no arm movement at birth, he has progressed remarkably with the help of daily physio and occupational therapy, leading to an almost independent life, although the lack of muscle tissue in his arms means these are weak with restricted range of movement.

He has had operations firstly to correct his foot and to reposition his thumbs in a more functional position. His latest operation attempted to extend his left wrist tendons to help the curvature and movement of his wrist, but was unsuccessful.

Despite nightly splinting and physio, both wrists remain curved and although function they cannot straighten or rotate upwards. Jonathan's consultant is discussing a rare form of surgery to remove the fused metacarpals in the hope of achieving a greater range of movement. I understand this form of surgery has not been carried out in Britain where this condition is very rare.

Jonathan is happy to have further surgery if it might help him, but before agreeing, we would be grateful for any information Avenues may have on this type of surgery, or contact information with anyone who has had similar treatment.

I see from your leaflet that there are specialist centres dealing with arthrogryposis, do you know if they take overseas referrals for a second opinion?

On a more general note, we have had great difficulty in finding information on this condition and found a general lack of understanding from many medical professionals in this country. In Britain this condition affects 1 in 55,000 live births. This is far fewer than than 1 in 3,000 in your leaflet. Has there been any research on this that you know of?


From: Charles & Christine Thompson
15618 Willow Dr.
Fontana, CA 92337
909-429-0792
e-mail: GRIZSS@aol.com

The reason for this letter is to ask for help. My son has AMC he is doing quite well but something has piqued my interests. The area in which I live is in close proximity to a hazardous chemical dump and we have reason to believe this may have contributed to the cause of my son's condition. Normally I would not make any connections but across the street from my home there is a family that two daughters with very much the same conditions as my son.

What I need from you is if you know of any other cases of AMC close to a hazardous dump or Superfund site. The area in which I live is Fontana, California. Any information you can give me would be helpful.


From: Amy Galle
1114 East Fifth St.
Anaconda, MT 59711
e-mail: gakke@in-tech.com

I had written you last summer about my daughter, Erin. She was diagnosed with arthrogryposis when she was about 4 months old. She has since had surgery for her clubfeet. Surgery was successful. She now wears braces on both feet. Erin is no longer wearing braces on her hands. She has been treated at Shriners Hospital in Spokane Washington. Our Doctor, Doctor Ron Ferguson, has been very impressed with her. They cannot believe how much her hands have improved! They believe she will have almost full normal function, and will be able to do most anything! I will try to keep you updated on our success!


From: Marina Sadikoska
41 Belmont Ave Apt.1
Garfield, NJ 07026
work:(973)777-3500 ext.286
e-mail: msadikoska@vertexindustries.com
home: (973) 478-6413
e-mail: msadiko@bellatlantic.net

My name is Marina Sadikoska and I have a friend whose daughter has AMC. I would like to offer my translation and/or interpreting services in the Macedonian language (one of the former Yugoslavian languages). I'm a member of the American Translators Association (ATA) since 1995, and am registered court interpreter with the Administrative Office of the Courts (AOC) of New Jersey. I could also do telephonics. Of course, my services will be free of charge. I'd be glad to help.


From: Renee C. Wiloughby
224 North Mary Ella Avenue
Panama City, FL 32404
(850) 871-2915 (H)

I would like to tell you about my daughter, Kacy. Plus I'll share a few secrets that we learned the hard way. Kacy Lynn was born July 10, 1992, after a full-term pregnancy, which was uneventful. She was born C-section, as ultra sound showed she weighed as much as my first child, who was too large to be delivered naturally.

Initially in the delivery room, the pediatrician advised that Kacy had club feet, at which point everybody left, leaving mom on the table by herself to cry over the news. (In need of that sensitivity training.) Later, an orthopedist came to my room and stated that Kacy's feet had been put in casts and she had the worst club feet he had ever seen! (More of that sensitivity training!)

Anyway, Kacy and I went home in a day or two, and it was immediately obvious to me that other things were wrong as well. Kacy's body was soft (muscle atrophy) all over; she folded like a book at the waist if you weren't holding each side down (must have been utero positioning). She did not bring her hands up to her mouth to console herself. They simply hung down to her side; and she cried continually. It would take her approximately 45 minutes to take a couple ounces of formula and then she would fall asleep. I called the pediatrician's office with my concerns, to be told "Oh, she'll start moving! And "She probably has colic"!!

At Kacy's two week check-up, after being examined by the pediatrician, the doctor stated, "Well, she's really not moving like you said!" Also, Kacy had lost a pound in weight. Kacy was referred to a neurologist and an occupational therapist.

At the occupational therapist, we learned that Kacy's tongue was working; however, her lips were not, and she was unable to form a suction around a nipple, with very weak sucking capability. This was why Kacy was crying all the time, she was starving! When she tried to get formula she would try her best, only to fall asleep in exhaustion. So, first thing we needed to get preemie nipples, which you cannot buy on the market. We were able to sweet talk a few out of the hospital nurses. We then made the holes in the nipple bigger with a hot needle, so basically the formula poured out. We would position Kacy more upright so that she would not strangle when feeding. Also, when feeding with the bottle, you would take your thumb and fingers to pull Kacy's cheeks/lips around the nipple to assist in trying to form a suction seal. (This sure beat the heck out of feeding her with an eye dropper, which I had finally resorted to in order to get nourishment in her.)

Next, the neurologist ordered an MRI... [The] MRI revealed an atrophy on the front left lobe of her brain. After reviewing the results, the neurologist referred us and Kacy to the Ochsner Clinic in New Orleans...

During this time also, we had to take Kacy to the orthopedist every Friday to got a new set of casts on. They would stretch her feet as far as they would go, then cast them that way. Kacy would cry so. They tell you that babies just don't like to be touched, that it's not really hurting that bad. One time, my oldest daughter came with us. She said, 'Mommy, Kacy is so red", as she was crying. Then next, she says, 'Mommy, Kacy is turning BLUE!!!" The "stretching" of Kacy's feet was so painful that her body had shut down breathing. The doctor had to immediately stop what he was doing and begin massaging her body to get her breathing started again!

...after so many tests, the serial casting of her feet and the club feet surgeries, you could not hug Kacy. She would immediately start arching her back backwards for you to release her. She associated human touch with pain. It took a 2 to 3 years of continual love and good touching before she would allow you to love on her...

Oh, let me tell you the secret for removing those casts!!! We had to soak Kacy's casts off every Thursday night before we went to the orthopedist on Friday to get a new set...The secret is: Add Vinegar to the water! This helps break down the casting materials. Also, when the orthopedist is applying the casts, have him/her leave you a handle! By this I mean, when he/she gets to the end of the gauze they are wrapping, have them make a little ball, then place it on the cast, making a little nub on the cast. This gives you an end to start working with when you start unraveling the material when it comes time to soak them off. Otherwise, the doctors smooth the casts out and you have no idea where to begin. With the combination of these two, it will save you a lot of sweat and tears!!

Anyway, we went to the Ochsner Clinic, (one of the best hospitals), and after three days of all kinds of testing, many of which were not very nice, we were informed that Kacy has Arthrogryposis Multiplex Congenita. Finally, there was an awful name to what was wrong. We were told that an unknown event had occurred while I was carrying Kacy, which stopped her from moving, [causing] the deposits, the atrophy, etc., as well as... the atrophy on her brain. Further,... the nerves [in Kacy's neck] were messed up, as the right side did and does not work as well as the left. Kacy's jaw only had a ROM of 15 mm, her right wrist would only go straight and no further. She was very stiff and hard to move...

Next, we went to the Shriner's organization for Kacy's orthopedic problems and, at approximately 6 months of age, they accepted her. The doctor also told us that we could quit serial casting. Thank Heavens! Kacy had her club feet surgeries when she was approximately 8 to 9 months old. They only do one at a time because it is so painful for the child.

After Kacy was born,I began to look for a daycare facility. Initially with Kacy having casts on her feet, not a center would touch her with a ten foot pole. Liability. They were too afraid. Even the HRS approved caregiver who tended children in her home, said that she would try Kacy, but if she took too much time (because of the eating), she would have to tell me to take her back... Finally, Kacy is now attending a typical daycare center and has blossomed so much since going there. She has to pretend and play, walk, etc.. She had only been with special needs [children] all day, now she was learning from other children and they from her!

From birth to three, Kacy was in Early Intervention, receiving PT, OT, and PT each three times a week. When she turned three and went into the school system, she received PT, OT, and PT three times a week at school, as well as,...privately three times a week... As time went on, Kacy developed asthma and epilepsy. She has been in the hospital so many times for various surgeries; ear tubes, asthma, seizures that were very long, until I have lost count.

One recent surgery that Kacy had was the removal of two salivary glands on the bottom and two that were tied off on the top, to help control the drooling. . If anyone has had experience with this surgery, I would like to hear, especially about what, if anything to expect in the future.

... We have been told that there is no problem with Kacy's jaw joint itself, but rather it appears to be a muscle problem. I worry about her adult teeth coming in, as I believe this will make the jaw opening even smaller. We can barely get a flat spoon in now. Would that mean we would have to come up with other ways to get food/nutrition into Kacy? Anyone with any information please write.

..Apparently as a result of the atrophy on Kacy's brain she is unable to talk. She attempts to and if you have been around her a lot you can understand that she is repeating the word you have said. After Kacy reached Kindergarten, it seemed to me that not enough attention was being directed toward her communication skills. It was suggested [that she use] a picture book, a ring with pictures hooked onto her person. Then we got the Dynavox (the large one). However, ...[Kacy] would have to go back to the location of the book, ring, etc., get teacher, caregivers attention, then start pointing... I decided to learn sign language to teach Kacy. Kacy's fine motor is not so wonderful and her left side works better than the right, but she is smart as a whip. What she was able to do may not be a perfect sign, but as long as she would be able to tell her family, teachers, caregivers, what she thought, it would be a success. I also adjusted Kacy's IEP at school and am proud to announce that she is picking up a lot. (Teachers are too!) She...is starting to communicate needs and just plain ol' conversation about what she sees!

Kacy's physical progress has been wonderful. She learned to sit at 18 months, and she would roll around on the floor everywhere she needed to go. She gradually began to bear weight on her feet and finally began taking steps when she was almost 5, last year. Now, her balance is continually increasing and she walks all over the place. She is unable to get up from the floor right now, but I'm sure that will come...

A couple of things for those brand new parents. One, get yourself a Day Planner to keep up with all the appointments as well as the phone numbers of all doctors. Keep ongoing/current medical records for the child (which you should always have whenever you go somewhere). And number three, take a break from your child. If you have a family member who can come sit for a couple of hours. Don't try to be Super Person. So take a break because it is very important.

One more thing, when your child is in the hospital you are still the parent, so you are due an explanation of what is to be done to your child before they just take her away, and if you don't think something is not right with your child, you have the right to insist that the doctor be contacted and advised of your concern. You as the parent know your child best, have educated yourself about conditions, and are very much a team member in the care of your child.

From: Elisa & Clyde McPherson
3231 Heritage Cir. #6
Augusta, GA 30909

My daughter Ebony was born on 3/16/96. She has been the light of my life since day one and her brightness and loveliness shine in spite of her arthrogryposis. She has been through three surgeries so far, and hip surgery lurks somewhere in the future. Both of her upper and lower extremities were affected, but thankfully only her fingers were slightly contracted. She has just recently been fitted for steplock KAFO's and will be getting a walker soon. We were told by two different orthopedic surgeons that she would never walk, but she can now stand with very little assistance and her present orthopedist feels she will walk with the aid of orthotics. I think the hardest part has been the isolation. It's been heartbreaking to see Ebony watching other children run and play outside. I'm hoping to meet other parents with children her age with AMC so that maybe we can get them together. All that I'm sure of is that her strength and determination are nothing short of amazing and I have a lot to learn from my daughter.


From: Mary Dombrowski
4234 Manhattan #2
Brunswick, OH 44212

I have a 20 month old daughter (born 9/30/96) with a number of medical challenges. She has been diagnosed as having Pierre Robin Sequence or Pierre Robin Anamalad. She had several questionable seizures/spasms within the fist week of her life but they stopped without medication. She has micrognathia although her chin seems to have grown out in the past year. She has low set rotated ears and has had recurring ear infections. They have discussed putting tubes in. She did have severe breathing difficulties her first year. She was hospitalized 3 times for aspiration. In the past year she hasn't had any of the difficulty breathing. She has very minor glossoptosis.

She is moderately nearsighted and was recently fitted with glasses. Her cleft is vaguely U or V shaped. She has had a g-tube for over a year now and has not taken anything by mouth in over 4 months. They have only recently scheduled a modified barium swallow. She had bilateral hip displaysia. Her hip adductors were tight. She had tendon nicks on both hips. She went through 4 months in a Pavlic harness, 3 months in a traction, and 5 months in a spica cast. The left hip is slightly behind developmentally. She stayed fisted with thumbs in and hands near her face for several months. She has a butterfly vertebra at T4.

Her chromosome tests were interpreted as normal. She also saw a neurologist-- he also interpreted her results as normal. Our previous plastic surgeon wondered aloud about her possibly having microcephaly after seeing her for less than 5 minutes. He did not examine her cleft during the visit. She sees an occupational therapist, physical therapist, speech therapist and home based educator through the Board of Medical Retardation and Delayed Development. The plastic surgeon told us that she is a virtual vegetable, would never walk, talk or eat by mouth, would never do anything independently. He also denied our requests for referrals for evaluations and testing--saying that it would be a waste of insurance money.

My daughter does babble on occasion, does respond to sound and reaches for toys that make noise or have lights. She can also stand briefly with support. She wears a wrist brace to lesson the flexion in one wrist. she also sits in a therapy chair to learn to control her neck muscles. She will begin using a supine board in July.

Her crainofacial team consists of a pediatric plastic surgeon, ENT, speech pathologist, audiologist and pediatrician. She also sees an orthopedist, pediatric, gastroenterologist, ophthalmologist and a nutritionist. None of our providers has helped us get information about her problems. I hope you can help us with information on your specific discipline. Brochures, fact sheets, links on the web or even a referral to another source would be greatly appreciated.


From: Janet Prebul
5720 Crystal Lilly Ct.
Las Vegas NV 89130
Fax: (702) 658-9016

Hello! I first introduced myself to Avenues readers in the January 1997 issue. I want to thank the readers who responded to my letter. In addition to the health problems (ie. mobility and respiratory) I already had recently suffered a serious head injury this past June which resulted in a 2 week hospital stay and some short term memory loss. I am doing much better now.

The reason I'm writing is because while I was at the hospital the doctors came up with the weirdest thing. They said I have a disease (actually, a history of this disease) called moya moya which is what caused my AMC. I have NEVER heard (I'm 25) of such a thing.
I've tried to look this up but have been unable to find anything. As many of you know it's difficult enough to even find any information on AMC. Has anybody information any information on this? I am desperate to find out.


From: Dale & Carol Stauffer
220 Greble Rd.
Myerstown, PA 17067
717-933-4323
e-mail: tga@desupernet.net

Our daughter Larissa, now 9 months old, was born with Distal Arthrogryposis. She had severe club feet, which were corrected with surgery at 4 months, after a series of castings failed. She now wears a MAFIO brace on both feet. She is in her walker and gets around real well. Her hands are contracted at the wrist and her fingers are long and thin. At birth they were bent over the others, but with lots of occupational therapy they are now flat and straight. She uses her hands and fingers almost as much as a normal child would. She seems very sharp and catches on very fast. The only area that was affected by Arthrogryposis is her wrists and ankles.

We know very little about Distal Arthrogryposis and welcome any information, solutions, and correspondence with families that have a child with Distal Arthrogryposis. It seems that it's not a very common problem and lots of doctors were never exposed to Arthrogryposis and do not have very many solutions. Any help would be very much appreciated!!


From: Jeremy Wann
1364 Milton Place
Rohnert Park, CA 94928

My name is Jeremy. I'm 14 yrs. old and have Arthrogryposis. My mother was told that I would never walk nor be able to feed myself. I did not crawl, I rolled to get to where I wanted to go. I have had many surgeries (provided by Shriner's Hospital) and lots of therapy.

Arthrogryposis has effected my wrists, hands, arms, and my legs. I cannot lift my arms above my head. I have to wear long leg braces, without them I cannot walk. For long distance a wheelchair is preferred. I tire easily.

I did learn to feed myself. I write pretty good and dress myself for the most part. I have not figured out a way to put on socks and shoes without the assistance of another person. There are more every day issues that seem to arrive as I get older.

I would like to talk with others who have Arthrogryposis. I would like a pen pal. Please add me to your pen pal list.


From: Richard and Linda Rockenbach
1913 Bookbinder Drive
Las Vegas, NV 89108-7702
(702) 631-6926
e-mail: RockenbachRLJ@juno.com

We have appreciated the efforts to put together this newsletter. We enjoy reading and responding to others.

My wife, Linda, was born with Distal Arthrogryposis Type I but was not informed of her diagnosis until our son, John Lucas, was born and accurately diagnosed.
Linda's pregnancy seemed ideal. The only hint that anything was wrong was the lack of fetal movements, "kicks" during the pregnancy.

I have researched on the "web" that an ultrasound could have detected some physical inconsistencies between the 14th and 18th weeks. We would like to have another child. We have tried and failed the invetro-fertilization procedure 18 months ago. We would appreciate any additional information from other AMC families who have had subsequent children to find out what prenatal diagnostic testing and early interventions for treatment before birth. Also any physicians who have treated similar cases are welcome.


From: Angie Farquhar
56 Thorncliffe Park Dr.
Suite 507
Toronto, Ontario
M4H 1K7
Tel: 416-423-2218
e-mail: penguin@tru-north.com

This is a bit long, but it details my entire life. I believe some of this information could be helpful in some form or other to people who may have questions about what the prognosis of A.M.C. could be (especially for children). If anyone wants to contact me, do not hesitate. If you have any questions, ask away. No questions are off-limits if it could help someone else. I also give permission to anyone who wants use any of this information with doctors, therapists, family, etc. ...This is what happened to ME alone and DOES NOT mean the same things will happen with you or your children.

My name is Angie Farquhar and I am from Toronto, Canada. I just turned 30 on May 31 and I have A.M.C. I also have a twin sister who is perfectly able-bodied (She is my biggest source of support. I also have two older sisters and they too are wonderful. I am quite lucky to have the family I do.)...

When I was born, all of my limbs were affected. I was like a solid block when I was born. The only thing that I was able to move were my head and my mouth to let out a mighty howl at the sudden removal from my warm cocoon. My twin was born 8 minutes later. My left side was affected the most. I also had bilateral hip displasia. My femurs settled on the outside of my pelvis. As with most people with A.M.C., I also had clubbed feet.

From the time I was born to 8 weeks, I was in hospital. I had surgery to correct the clubbed feet, I had splints on both hands, and I also had a pink body cast for two years to correct scoliosis (curvature of the spine). The doctors at The Hospital For Sick Children in Toronto (a world-class facility) told my mom that the chances for my moving anything were quite slim. She was told I would at least be in a wheelchair my entire life. Hardly anything was known about A.M.C at the time so that was the only diagnosis they could give.

I was sent to what is now known as the Hugh MacMillan Children's Rehab Hospital (it used to be called the Ontario Crippled Children's Centre. Boy have things changed in the past 30 years!) There, I was introduced to a Dr. Mercer Rang who had a radical idea. He thought I had nothing to lose by giving me intensive physiotherapy every day for 3-4 hours. After a couple of months, my mom was in for the surprise of her life when she came to visit one day. I moved the third finger of my left hand! I had been moving my right hand for a little while and the doctor wasn't too sure if I would ever use my left hand at all. The nurse had seen me move that finger the day before, but she wanted my mom to be surprised, and surprised, she was. After that, everyone was sunnier with my prognosis.

I feel that the most pivotal part of my care was the physiotherapy. This allowed me to recover more quickly after the surgery, move my joints more freely, and build up my tolerance when it came time to walk. My physio taught my mom how to do the exercises at home and I was allowed to go home for short visits. At the age of three and a half, I started walking out of the pool where I went every day for hydrotherapy. I used to be afraid to put my feet on the floor because I had casts and splints on them for so long. Every time anyone would try to stand me up onto my feet, I would pull my feet up and not put them back down.

According to my mom, I was a little flirt back then and it was a little boy on the other side of the ramp-wall that captured my attention. As soon as I saw HIM, I quickly dropped my feet to the ground to splash water with him. As soon as I saw that it didn't hurt me to put my feet on the ground, I just started walking that day. I would still scoot around backwards on my bottom at home because I would go faster, but I essentially never looked back as soon as I was more mobile. I never used any walking aids or splints after the age of 4.

When it came time to go to school, my dad fought for me to attend the same public school as Caroline, my twin. It took quite a battle, but the principal of the school was phenomenal in convincing the school board that I had the same potential as any other student. In fact, he went far above and beyond what any principal should do. He set up a little red wagon program so I could get to school on time. He would get other students to come to my house with the red wagon to pull me to school. I always appreciated the fact that it was not up to Caroline to pull me to school, she could have her own life and friends.

Mr. Stevenson (principal) also got two typewriters for me to use because my right hand was not quite strong enough to hold a pencil properly. One typewriter was for school, and one for home. He took one to two hours out of his busy day to teach me to type and to make sure all other difficulties I may have had were taken care of right away. Boy, was I lucky to have him in my court to help me whenever I needed him. I could start holding a pencil in third grade and never looked back at the typewriter until I had to write essays in high school. It's funny that everything is computerized now and I am using a keyboard again.

I became more active through the years. My sisters were more important than any physiotherapist so I never saw one after age 4. Caroline and I got into mischief on a regular basis and I could do anything from climb trees to climbing up and down the local bluffs (cliffs). I ran slower than Caroline, but I went everywhere with her just the same. I never got my co-ordination down enough to ride a bike, so Caroline would double with me when my folks weren't watching, quite dangerous, now that I look back...

In high school I became as active as I could. I joined the field hockey team, the volleyball team, the swim team and the track team, throwing a javelin (I acquired an incredibly strong right arm because that was all I used). I also became quite active in dramatic arts, and joined all the plays I could. I joined the choir too.

At the age of 15, I woke up on morning and I literally could not walk. It took several hours to limber up enough to walk again. I went to Dr. Rang, and he said I had arthritis in my hips and there was nothing I could do except to keep as active as I had always been. Oh yippee. To this day, I do stretching exercises for about an hour every morning, sometimes longer, it depends on what kind of a day I am having.

When I was in college, I turned to downhill skiing. That was the most freeing experience in the world to me. I was gliding for the first time in my life and no longer lurching as I walked. I could also gain some wicked speed and I realized I was a true speed-demon. I always skied safely with a buddy. I never ski alone. Incidentally, I met my fiancée on the ski hills in 1988 in another province. Both Steve and I believe it was destiny that brought us together. We only lived about a half an hour away from each other, but we met on a ski trip 600 miles away, WOW!!!

I graduated college at 19 after majoring in counselling people with developmental disabilities. I loved working in this field, but it was very physically demanding as I worked in a 3-story group home with no elevating devices. I had to stop by 1990 at age 21, because my hips were hurting very badly.

It took from the time I was 18 to the time I was 20 to get an orthopaedic surgeon I was happy with and I could trust. His name is Hugh Urquhart Cameron and he is a wee Scottish doctor at the Orthopaedic and Arthritic Hospital in downtown Toronto...

Dr. Cameron was God in my eyes. His first words to me when he saw my x-rays were, (pardon my language) "Holy ...., love, you're a mess" As soon as I heard this, I laughed and I felt sure he was a doctor I could trust. Not for the swearing, but for the honesty. He also had a sense of humor and to me, that is essential in coping with the big issues. The next words out of Dr. Cameron's mouth were, "What do you think we should do?" This was new for me. A doctor who encouraged my opinions was so refreshing. He said I was the expert for my disability and that whatever I said was probably exactly what I needed. This was a huge thing for me to be able to take my health into my own hands. Looking at the x-rays, we could see that the hip areas were quite arthritic. Having never had any hip sockets in the first place, he was surprised I even walked at all, let alone without any aids. In the spring of 1990, we agreed that I needed hip replacements (or rather, put them in) and I was put on a waiting list for September of 1993.

...At the beginning of 1991, I was in so much pain I had to start walking with a cane. I went to see Dr. Cameron, and what he had to say after seeing my x-rays knocked me for a loop. He said that my hips had deteriorated 2 years in the span of 3 months and that I needed to have surgery immediately or run the risk of causing irreparable damage and possible paralysis....

The way the next series of events went, I am still having a hard time believing, and I lived through it. In short, over the past 7 years, I had 12 operations on my legs (I look like a road map, but at least I can walk). I had to stop working altogether, Steve lost his job in the fall of 1991 due to downsizing, and never got another full-time job until LAST WEEK. So you see, I now see the way the events unfolded over the past 7 years as fate to keep Steve and I together and pretty sane. We are both extremely lucky we have the families we do who are willing to put up with us for so long.

So, now to explain the operations. What a time! In April of 1991, I had my right hip done. The interesting thing, was that as soon as I woke up after the surgery, I needed no pain medication. The doctor took away the pain by putting a hip prosthesis in. I was 2 months non-weight-bearing after the surgery, living at Steve's house because his mom used to be a nurse, and then I started walking right away. I went with Steve and his family to Scotland that September for three weeks and I had a great time. My hip felt great and I could walk for miles without getting exhausted from the pain.

The left hip was scheduled to be done in November of 1991. This one, however, was not as easily done as the right one. A problem we had not foreseen, was that before any surgery, my left leg was always around two and a half inches shorter than my right leg. After the surgery, that length discrepancy turned into five and a half inches. What to do, what to do. We decided to make up as much of the discrepancy as we could using a bone graft taken out of my right hip during the right hip replacement. What we had not bargained for, was that lengthening the leg also included stretching out the muscles, nerves and ligaments. When I woke up, I was expecting to breeze through the recovery again. Boy was I in for a rude awakening! The nerve pain was quite like nothing I had ever felt before... After the surgery, I was sent on to a rehab hospital to recover.

About the third week into my recovery, I was up on my crutches going from my bed to the bathroom when I misplaced my left crutch and lost my balance. My automatic reaction was to regain my balance by stepping onto my left leg. For you to understand what happened next, I will explain the simple mechanics of the hip replacement (this part is quite graphic, but I can think of no other way to explain it). With the hip replacement, the doctor took off the top of my femur (thighbone), and hammered a metal spike of sorts down into the remaining part of the femur. The top of the prosthesis (spike) went up into a plastic disc he placed into the pelvis. Then he took the remainder of the bone he had cut off, ground it up into a paste and put it in around the prosthesis in the femur. As the bone healed, the paste would heal into new bone, strengthen and make the whole area much stronger. The length of time it takes for this to heal, is around 2 months.

So, as you may have guessed, the fall happened well before the 2-month mark. As I stepped into that leg, the prosthesis, halfway down, snapped the femur like a twig... This incident happened on a Friday (December 13th, and I am NOT superstitious), and the O&A is a specialized hospital. It does not perform surgery on weekends or holidays. Dr. Cameron, who was the only doctor who understood my case, was in Germany at the time. I thought, "What fresh hell is this?" But there must have been angels all around me, because the O&A accepted me back even though they didn't have an emergency dept. They gave me x-rays and found what was really broken. The most astounding thing for everyone (myself included) was the fact that the hip and pelvis area had healed 100%!! It was just the femur that had snapped.

After the x-rays, another excellent orthopaedic surgeon, Dr. Peter Welsh and Dr. Smula, Dr. Cameron's right hand man, saw me....The surgery went pretty well, by all counts. The original prosthesis was removed and another, longer one was put in its place. As soon as it was in. a metal plate went all around the entire bone and prosthesis. Then a metal wire was wrapped around that. And if there was any question of stability, 6 metal screws were put in as well. I was wired for life! ...

I was doing well with my recovery until around February. This is when I started to feel excruciating pain throughout my leg....I tried to explain the pain to the attending doctor at the rehab hospital. He was inclined to believe it was all in my head. I was really angry that he didn't believe or understand what I was going through. Thank God there was a nurse who did listen to me. She often stayed with me 3-4 hours after her shift finished just to talk me through the worst of it and to keep me occupied. She also would rub the leg to "overstimulate" the nerves. By rubbing the leg hard, it would trick the nerves into thinking they were stimulated enough and they would settle down a bit. ...During that time, I had extensive tests done on the nerves... we found out that the femoral nerve was damaged permanently. I had had it stretched out in the first surgery and it would have healed slowly, had I not injured it further. When I fell, however, the femur scraped across it as it broke....Today I only feel it on "bad" days (when the barometric pressure rises, when I walk too much, when I move my leg certain ways, etc.).

...After that foul-up, all went well, and I was supposed to be released on the Tuesday after Easter. I was allowed to go to Steve's place for the Easter weekend and I was excited about getting a trial run before I went home for good. On the Saturday, Steve and I decided to go to the mall for a while, just for a change of scenery. I was walking with a cane, in a carpeted store, when fate struck once more.

I was walking slowly, but I was happy to get around by myself, when a little girl ran around the corner of the aisle and went right into me. She didn't even see me and the fact I was hobbling around with a cane and she knocked me right down... What happened, was, my left foot was planted where it was (maybe it was cemented in place and I just didn't notice) and it wasn't moving forward. Even though my brain was screaming MOVE IT!!, the leg was not budging. As I was going down, my kneecap snapped...I was sent to another local hospital where the fractured patella (kneecap) was confirmed. Upon learning this, I requested to be sent back to my now home away from home, The O&A....

When Dr. Cameron saw me, he looked at me and then gave me a great big hug. Few are the doctors who treat more than just the physical. I needed that hug more than anything at that moment. Then we got onto what we needed to do. That being, how to proceed from here? At that point, I was almost SIX months non-weightbearing on that leg. I had just started walking the week before and my left foot hurt very badly. That meant that my foot was not used to being flat out on the ground. What we had not foreseen, was that the foot would start to club up again without regular use. We had decided the week before, that I would try to walk around for a bit and see if I could work it out myself. Fracturing my kneecap made that decision a LOT easier. Maybe it was fate stepping in saying, "hey twit, don't even ATTEMPT walking it out". Dr. Cameron and I decided at that time, that it would be prudent to do the "two for the price of one" thing and fix the knee as well as the foot.

In hindsight, (isn't hindsight always 20/20? Funny, that...) this was not the most brilliant of ideas. Sure, it was all done at once, but we did not factor in the fact that I needed to keep the knee perfectly straight for 4 weeks. The cast on my foot (for 8 weeks) was at least 6-7 pounds of plaster and it made keeping the knee straight VERY difficult. Sure, I had a splint on my knee to keep it straight, but it was hard nonetheless.

NEVER let anyone, under ANY circumstances; tell you that foot surgery is painless.... I quickly learned that ALL of my nerve endings are in my feet. The first thing I did when I woke up was to start screaming, and I didn't stop for about a week. I only know this from second-hand accounts and some very hazy memories. The cast put on my foot upon leaving the operating room was too tight, or rather it was loose when I left, I just swelled up 4 times the normal size when I got out.

...I asked Dr. Cameron what the heck he did to me and to please shed some light onto why I was a raving lunatic for a while. Essentially, he told me he broke every bone in my foot and reset them. He said he had to make 7 incisions all over my foot, put in a metal plate, 6 screws and (this one is gross, even for ME) put a metal wire from the tip of my big toe right down into my foot to fuse it straight. The wire was actually poking out of the toe so it could be removed at a later time.

...When all was said and done, I had spent 8 months in hospitals. NEVER AGAIN. Many people say to me "Boy, how did you DO it? I could never have done that". But you know what? I wouldn't have either. Not if I had a choice. I just kept dealing with things as they came along. I mean, it wasn't planned that I would break my femur, or break my knee, or have drop-foot to deal with. I am just grateful I can walk and that I didn't lose my marbles in the process.

In an odd way, the whole thing allowed me to re-evaluate my life and what was important to me. I got rid of a lot of excess baggage I thought was so essential to my existence. Well, no more. I have learned to communicate with the people around me better and I take every opportunity to let them know how I feel about them right away. An incident happened to change my life in this manner. This next part I debated on whether I should mention to you or not, it is pretty disturbing. But I will in order for you to understand me a bit better. After the foot surgery, I almost died. In fact, at one point I was clinically dead. I had a severe allergy to morphine and we didn't know because I had never taken it before in my life. The nurse had just given it me an injection and was about to walk out when she decided to fix my sheets. She noticed that I went from screaming to total silence and became alarmed. She tried to listen for breathing when she realized I wasn't breathing anymore. I was revived and then put on a watch for 24 hours with no pain medication whatsoever. I made it through and came out stronger for the experience.

I decided to tell you this story for two reasons. 1) Because of this event, I lost all of my anger at the world and the circumstances I was in and decided to accept and make the most out of my life. 2) I was able to clearly see what my destiny in life was (to teach others) and what steps I should take to fulfill this destiny. I am NOT a religious person by any means and I don't go to church, but I firmly believe in God. I have my own unique relationship with him and I don't need church to worship him. I had always wondered why I was able to take giant leaps of faith even if I didn't know what to expect on the other side. After this incident, I realized I had a total faith in God and that he had a mission for me. He also placed a mess of angels all around me to help me throughout my life. The angels are manifested in my family, my friends, Dr. Cameron and all other doctors who helped me along the way (I always thought Mr. Stevenson was an angel). I am also fortunate to live in Toronto. The health care here is top-notch. The health care system in Canada is excellent and I often cringe to think of what might have happened to me had I been born somewhere else.

That whole chapter of my life finally closed in June of 1993. When I left the hospitals behind, I got on with my life and learned how to drive. I now wonder how I could have ever gotten along without a car. Over the next year, I slowly increased my physical energy levels and my output.

In November of 1994 I took a 1-year contract position in a place called Discoveries Child and Family Centre. This was a children's mental health centre working with families who had children who were, or were at risk of, developing difficulties coping in regular social settings. In this agency, I threw myself into my work, knowing I was only there for a year. I was involved in 22 programs and I worked with the children in every setting you could imagine, daycare, school, home, hospital, and even in battered women's shelters. The shelters were the most difficult, because I saw the aftermath of what domestic abuse does. I worked in all those settings in the afternoons. In the mornings, I was a co-supervisor of the Discoveries nursery program working with nine 2&3 year olds.

Even though working at Discoveries was the most difficult job of my life, it was also the most rewarding in so many ways. Just seeing the smile on a child's face was sometimes enough to get me to sleep after a brutal day. I got so much more out of the job than I ever thought I would. I pushed myself and found out I had new limits. I also found that I had a natural ability with children to make them feel safe, comfortable, and happier with themselves. Children often came to me instead of their teachers because they found me less threatening. I think this is because I have A.M.C. I am not perfect and they see that. I also have an understanding of what being different is all about. I was always honest with the children and the most important thing to me was letting them know that it was O.K. to feel the way they did at the time. Acknowledge it, and then help them discover what they could do about the situation. I had the opportunity to work with some amazing people in the agency and I LEARNED.

One particular co-worker had a profound effect on my life. Do you remember the angels I tried to explain earlier? This co-worker was, without a doubt, one of them. Her name was Nancy and she helped me see more of what I was capable of than anyone else in my lifetime was. She was a consultant working with children in daycares and kindergartens. We worked out of the same office and our desks were pretty close to each other. Nancy and I never really got to work together, only a couple of times, but we chatted almost every day either before or after work. She was such an observant person and she watched me closely. How else could she constantly surprise me by saying things that I only thought about? She was the driving force in pushing me to see what I was really capable of. She had an infinite confidence in my abilities even if I didn't quite know what my abilities were at the time. Nancy was constantly dragging me out of my comfort zone and making me look at my life more and how I could change it to what I said I really wanted.

Another thing she did for Discoveries, was to teach at the local college a course for students taking Early Childhood Education. The course was called Developmental Diversities. Essentially, it was a course on how to work with children with special needs. One afternoon, just as I was about to go home, Nancy said she wanted me to come in to talk to her class about my life and the ups and downs of living with a disability. I thought about it for that night and then decided that I wanted to do it. The day finally came and I presented my life. It was one of the most exhilarating experiences in the world! I got up there and spoke for around 45 minutes and I didn't a) faint dead away b) choke on my words, or, c) lose my audience. The best part for me, though, was the reaction I got from these college students. They asked really good questions and were very keen on learning. I have so much hope for our future teachers. What I didn't know, was this was all a part of Nancy's elaborate scheme. She had said several times that I should write a book or become a public speaker. I would use my own life stories to help others cope with life. I didn't realize I could have that effect on people I didn't know.

I took Nancy's advice, and decided to GO FOR IT. What really shocked me, was that all of the people I knew were not surprised at this choice. In fact they were all extremely supportive. They have been trying to tell me the same thing for YEARS.

I had to have more surgery before I could start this new life. My right knee was starting to bother me terribly and I couldn't figure it out. Dr. Cameron took x-rays and we saw that the ligaments were so loose, the leg was going in two different directions above and below the knee. Above the knee, my leg was turning in. Below my knee, the leg was turning out. I was looking quite knock-kneed. Usually the doctor would not touch this because this is how the leg is most comfortable. My problem, was that it was starting to hurt, as it kept slipping in and out of the socket. In March of 1996, 3 months after I left Discoveries, I went into the O&A for a femoral osteotomy. The doctor simply cut the bone in half just above the knee, moved it to where it should be and put a metal bar in to keep the two halves where they should be. I was in the hospital and rehab hospital for 4 months with that one just because I was non-weight-bearing and it was slow to heal. In September, I had the tibial (shin) osteotomy. I was only in the hospital and rehab for a month for that one.

When I got out of the hospital, I was given another unique job before I could even think about what I was going to do with my life. This job was one I both loved and hated, mostly hated. I had to interview people with disabilities to re-evaluate their status for the accessible transit system. There were cutbacks to the special services and 24,000 disabled people had to be cut back to 13,000 following new guidelines. I worked with two other people on an interview panel. I certainly learned an awful lot about communicating with all kinds of people and how to negotiate effectively The biggest lesson I learned is how frustrating the government can be when trying to explain things to them.

They simply don't listen and they are constantly repeating the same old lines about "my hands are tied" or "that's not my department" or "we just don't have the money". I knew for a fact that they did have the money, they just put it into another service. I believe it was a way for the transit system to try to get more money from the government. "Leave the disabled people out, and public opinion will force the government to give more money" "The disabled people are used to fighting for what they need, they can fight for this too". I would often have a difficult time sleeping at night. I didn't agree with the criteria I was to follow because it removed many people from the system who I thought would have had great difficulty getting around on the conventional system.

When my contract expired in June of 1997, I did not renew it. I felt my own ethics (and my health, for that matter) were being compromised. If my supervisors were not going to listen to me, I could not keep following guidelines I did not believe in. In fact I saw them as having been designed to kick as many people off the system as possible. All of what I just said is my own opinion only.

When I left this job, I slept for about two weeks and then I got involved in organizing an event to raise awareness for the water quality of the Toronto harbour. It was a volunteer position, but I needed a bit of a break and I needed to work outdoors for a while.

That brings us to August of 1997. I had pretty much decided that I did not want to work for anyone else anymore, So I decided to start up my own business.

On March 30, 1998, PENGUINS CAN FLY (And we speak too!) got off the ground. I have classified myself as a speaker/storyteller and consultant. I will give talks to anyone or any agency who wants me to to speak Specializing in: -Disability Issues - Using Humor to Cope - How to Maintain a Positive Attitude (even when you think the world is caving in on you) - Using Your Potential To Go For It - and Customized Presentations.

I am also writing a book about my adventures. Some are good and some are bad, but they are all adventures all the time. The tentative title is: NEVER A DULL MOMENT.

Well, I think I should sign off now... I hope people can learn from my case and maybe get hope for their children's lives and futures. If I can help one person.....


From: Norma Jean Zertuche-Word
7211 Marble Creek
San Antonio, TX 78238
(210) 521-7736

My daughter, Genita, has Arthrogryposis in both her arms and legs. She also has been diagnosed with Petite Mal seizures. She is going to be 10 years of age soon on September 3. She now has a one and half year old brother, who constantly, jumps on her fragile body. He treats her just as if there is nothing wrong with her body. She is getting tall and just recently started complaining that she is too tired to walk. She wears KAFO's and refuses at night to wear her hand splints. The family has adapted to her inabilities but refuses to let her get away with out doing nothing.

The main problem is determining if her seizure medication or keeping up with the other children is making her tired. I'm concern about her keeping her grades up due to sleepiness and/or being just plain old tiredness. Should I allow her to start using her stroller, since she currently does not own a wheelchair? Other people have been known to use a wheelchair then later not be able to walk again.

She's a picky eater and is pretty slender; therefore, she gets around okay. I hope she does not gain too much weight in the future. She loves to wear sandals in the summer and sometimes complains of her feet bothering her. We gone through horseback riding, handcrank cycling to water-skiing. We have been creative in bathing, dressing, grooming but now that she is going to need bras, we can't figure this one out. She likes sleepovers with her cousin or the neighbors. If any mothers can give me any helpful hints in these areas, I would appreciate it. Thank you.


From: Kathy Linn
2318 Rodgers Dr. NE
Huntsville, AL 35811
(256) 533-2659
e-mail: klinn@gateway.net

Casey Linn is my 6-yr.-old son who has a severe case of AMC, type amyoplasia. Doctors say he will never walk; however I haven't given up the thought that he might; however we are going nowhere fast. My insurance only pays 80% of just about everything I have done or need for him and I needed to get some of the bills down before we went any further. Right now he does not even make regular visits to a PT/OT. He is only getting what we get at home and that is not enough. He spends all of his time sitting and is beginning to get curvature in his back and sometimes complains of back pain.

Casey is extremely intelligent and is very popular at his school (as most of these kids are). He recently got to meet professional golfer Casey Martin (same name, heh!) and had an article written about the two of them in the Huntsville Times. He has a 2-1/2 yr. old sister named Shelby. Boy, was I nervous when I was pregnant with her. I had a wonderful doctor who took care of me and did all the right things (additional test, high-resolution ultrasounds, etc.) when I was pregnant, but I was still nervous. Shelby is perfect; however there is no one that will ever replace Casey.

I have been unable to get approved for any financial assistance to get the things Casey needs like transfer equipment and ramps for the house, proper modifications for our van, feeding devices, clothing to accommodate going to the restroom (his legs are bent at the knee-frog-like). Well, it is just darn hard. So, the bills keep piling up or we do without. Casey is getting bigger now and some of those things can not be put off anymore. Any suggestions on who to contact for help? I have sent a picture of Casey and his sister. Thanks for listening and I look forward to hearing from you and others.


From: Deb Loppnow
14777 92nd Place N
Maple Grove, MN 553369
e-mail: dloppnow@worldnet.att.net

I need to call on you all for some advice. Our daughter who turned two on 01-98 is starting to show a real interest in potty training. The challenge is to pull up and down the pants by herself. Any suggestions or sharing of experiences would be appreciated.


From: Vicky Cook
54 Millwood Cres.
Kitchener, ON., Canada
N2P 1M7
e-mail: steven.cook@tek.com

Our son Cameron is 17 months old and has arthrogryposis of the upper extremities. He has no active elbow flexion at all. I have heard of a dynamic elbow flexion splint to help with self feeding. I am wondering if anyone has used this with any success. The doctors feel he is not a candidate for a tendon transfer and that an elbow fusion is the best solution. I feel uneasy about a permanent surgery unless I am sure there is nothing else that will work. Any information would be appreciated.


From: Mary Mahan
11095 CR 6850,
Moody, MO 65777
(417)256-2312

I have an 8 year old son, Dustin, who has arthrogryposis. He receives speech, occupational, and physical therapy twice weekly. Recently, the school's speech therapist insisted his speech delays were not related to arthrogryposis and must be due to autism. I do not believe that Dustin is autistic, nor does his neurologist or any other doctors or professionals we have dealt with for the last 8 years. I do remember reading an article in your newsletter several years ago about a study that found approximately 1/3 of the children with arthrogryposis experience speech delays. Has any further research been done to determine why some children with AMS experience speech delays? Could you write me with some statistics or supporting documents stating that speech delays are sometimes associated with arthrogryposis? I would certainly appreciate any assistance you could give me. The school is giving me a difficult time over this issue so it is necessary that I educate myself as much as possible before the next IEP meeting in August.

[back to top]

Short Notes

Sources for Adaptive Clothing for Children

From: Kris McNally
e-mail: kmcnally@erols.com
Submitted to the Avenues Discussion Group

Catalogs:

  • Adrian's Closet 1800-831-2577 Kids sizes 4 - 20. Young adult sizes to XXL. Pants up to 44" waist. Winter wheelchair ponchos and adaptive mittens for kids ages 4 and up.
  • David's Collection: 9800 Wilbert Avenue, Baltimore, MD 21234. 410-668-0068
  • Me Too! Clothing Ltd. 720 Moose Road, V2N 5N8, Prince George, BC Canada 250-964-0931 Children's sizes 3-18 and adults clothing too.
  • Special Clothes: PO Box 4220 Alexandria, VA 22303 703-683-7343
  • Stitches From the Heart: PO Box 472515, Charlotte, NC 28247 704-552-1483
  • JC Penney 800-709-5777 Penney's catalog "For Your Special Needs" includes line of easy dressing fashions.
  • Kidability 1800-333-8087
  • C. Bell Co. 1800-201-8300

Resource:

  • "The 25 Best Catalog Resources for Making Life Easier" by Shelley Peterman Schwarz. A good resource for dressing aids-equipment or devices to help you dress children or help them dress themselves. Call 608-274-4380 or visit her website at www.Making Life Easier.com

From the Disability Bookstore:
The Disability Resource on-line Book Store is now 10% off everything, all the time! Come check out our hundreds of selections on all disability topics with an easy to use search engine. See the front and back cover on-line! Order on-line or call us at (800) 686-6049 or (505) 332-0630, we can also mail you our catalog.
Books and videos about:

  • Assistive Technology
  • Children's Books
  • Education and Employment
  • Learning Disabilities
  • Mental and Physical Disabilities
  • Sports and Recreation
  • Travel
  • and much more...

Visit the TDR Library at http://www.disabilityresource.com or give us a call at (800) 686-6049. Or simply e-mail your request with your name and address to books@disabilityresource.com. We can also help you get hard to find titles, just call us.

Toys for Children with Special Needs
The National Lekotek Center provides a toy lending library and play centers throughout the country for children with special needs. Call 1-800-366-play (tty 847-328-0001) for more information on services offered.

[back to top]