newsletter: Volume XXI, No.1, january, 2000

Contents:

AMC Picnic Planned in Central California

A picnic for AMC families is in the planning stages with a target date of June, 2000. If you are interested in attending, please contact:

Traci Griggs
1991 Cypress Cove
Tulare, CA 93273
(559)688-9396
TUCMUM@aol.com

Gathering in Florida a Success

Gabriele Hendrichs organized an AMC picnic that took place on June 19, 1999 in Osceola County, Florida. She had over 50 in attendance. For pictures of the event, you can visit Gabriele’s Internet site at:
http://www.geocities.com/Heartland/Trail/3421/Arthrogryposis1.html
Gabriele can also be contacted at: GHendrichs@aol.com

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Shriner’s Hospital, Houston Uses Dupont Treatment

The Houston Shriner’s Hospital has patterned it’s treatment of arthrogryposis patients after a program of treatment originated by Dr. G. Dean MacEwan of the Alfred E. Dupont Institute in Wilmington, Delaware. (The DuPont Institute is one of the leading centers for treatment of arthrogryposis in the US.) Dr. Douglas Barnes, Assistant Chief of Staff at the Houston Shriners Hospital, completed a pediatric orthopedic fellowship under the supervision of Dr. MacEwen and is a proponent of the treatment program. A well-designed newsletter produced by the Shriner’s Hospital in the Summer of 1999 focuses on
arthrogryposis and the treatment program. For more information contact:

Ronda Wendler
Public Relations Department
Shriners Hospital for Children
6977 Main Street
Houston, TX 77030-3701
Phone: (713) 793-3725
1-800-853-1240
Fax: (713) 797-1029
email: shriners@argohouston.com
website: http://www.shc-houston.org

Avenues Survey on Motherhood and AMC

The following survey was developed by Avenues to gather some data on the implications of arthrogryposis for childbearing and child rearing. John Sneddon placed the survey on the Internet to allow persons to respond to the questions directly. This was not a random survey, since those who chose to respond may not have been typical cases. Also, there is a wide range in the severity of arthrogryposis, which was not measured by the survey. However, the responses do offer valuable insight about what to expect for those with AMC who may be pregnant or thinking of becoming pregnant.

In total, 21 responses were received. Of those, 17 did not know the type of arthrogryposis that they had or did not state. There were two cases of distal arthrogryposis, one Amyoplasia, and one “genetic.” In total, 34 children were born to the 21 women. Nine of the respondents had had more than one child. The average age of the women at the birth of their first child was 24 years. Of those who responded, 7 were currently in their twenties, 10 were in their thirties, 1 was in her forties, 1 in her fifties and 2 in their sixties.

Of the 34 births, 15 were carried to term, 7 were not carried to term, and 12 did not state. One of the 34 died at the age of 7 months of unknown causes. 20 pregnancies were listed as having no complications. In 9 pregnancies, problems with balance or mobility or driving were mentioned. Of those, 3 women mentioned using a wheelchair during part of their pregnancy. In 5 pregnancies, problems not related to arthrogryposis were mentioned, e.g. high blood pressure, morning sickness, low platelets. 2 persons mentioned back or hip pain.

7 respondents mentioned getting some additional help during their pregnancies from parents, husbands, or other caregivers. Most reported no added help during their pregnancies. Most reported no medications or supplements taken during pregnancy, other than the usual vitamins. One person mentioned getting pain medication for her back pain.

Of the 21 women, 13 had their children by Caesarian section, while 8 had vaginal deliveries. In general, delivery complications were few. Several women mentioned that labor failed to progress, leading to a Caesarian section. One woman mentioned that the cord was wrapped twice around the baby’s neck. None mentioned any particular adaptations for the delivery. Several mentioned the pain of recovery from the C-section. 14 of the 21 women described their recovery from delivery as “normal” or “quick.” 4 mentioned a slow recovery.

Of the 34 children, 4 were born with arthrogryposis. These four were born to two mothers who described their arthrogryposis as “genetic” or “distal” types. One additional child had developmental delays and some bone and joint abnormalities, but the condition had not yet been diagnosed. One other woman with distal arthrogryposis gave birth to a child that did not have AMC.

6 women breast-fed their infants; 7 used a bottle and 6 used both. With regard to child care, the most common adaptation was the use of a stroller to carry the baby (5 cases). Two persons mentioned using a
high mattress to aid in changing and dressing and lifting. One did most tasks on the floor. The most-often mentioned difficulties with child care were lifting or carrying children (8); bathing (5); buckling car seats (3);diapering and dressing ( 3); opening bottles and jars (2); and breast-feeding (2). 9 of the 21 women mentioned getting extra childcare help from some source, either from a spouse, parent, friends, or hired assistant.

In general, it appears from this survey that many women with arthrogryposis do successfully give birth and raise children. There are certainly challenges, but those who answered the survey seemed to find ways of dealing with most problems.

Here are some excerpts from the surveys:

I am 26 and have a beautiful 9 month old boy. Being pregnant and having AMC is really not that different from able-bodied women. I did have problems with swelling in my feet to a great degree. Also, you’ll want to make sure your gynecologist or physician has an examining table that you (or a host of people) will be able to get you onto. I always had my doctor and boyfriend help. Transferring in and out of a vehicle (depending on what you have) will begin to be more difficult in your last trimester, as will driving (if you drive). I found my belly sticking out to far and hitting the steering wheel.

I too delivered by C-section due to my anatomy being shaped wrong, whether this was because of my AMC I’m not sure. I also had genetic counseling and a Level 2 ultrasound (more in depth) done. It was determined that my baby didn’t have the disability more than likely. Well, he was born healthy and happy and was examined by numerous doctors to make sure nothing was wrong. My main advice to you would be to make sure your doctor is supportive, able to listen, and willing to learn.

________________

Mother, age 61:
I did things on the floor, like changing diapers because it was easier. Keeping up with my second child [was difficult]. She was everywhere. [I left] my children at the…hospital when my daughter was three months old. She had pneumonia. I was told by doctors to get her away from them. She wasn’t worth the trouble to save, they thought. I found a doctor before it was to late. The child is writing this for her mom.…The baby they said wasn’t worth saving is married for 22 years, wrote a fiction unpublished novel and is a home health aide…They tied my tubes to make sure I didn’t have any more children. I was given a powder to drink to stop having babies. I flushed it and told my husband I took it. The child I wasn’t supposed to have is typing this for me.
________________

I am a 33 year-old mother of 3 girls, ages 13,12,10 1/2. I have AMC. I am just finding out what it means in medical terms. At 18 I lost my first child, a boy at 7 months. The reason was not explored.…I have been a single mom most of the time. It seems to get harder as I get older. I hurt more and am tired. I’ve always been very independent. I just moved back by my family after many years living in a warmer climate for my AMC. I am finding out the later years are more challenging. By the way, my hips were the least affected by AMC.
________________

Mother, age 37:
I was glad to have my husband. For some reason I didn’t think of having a C-section as having surgery, I was having a baby. I was most distressed to find out that I couldn’t move or walk without pain. I know this is normal, but I just didn’t think about it till that moment. Things were better in a few days. I use canes to walk and I had to remind everyone to keep the floor DRY at all times not even a drop of water on the floor. I would have been hurt badly if I had fallen down… I used a small stroller in the house as well as outside. There is no way for me to walk and carry a baby. I do use canes outside the house but not inside. It was still necessary to use the stroller. When they started walking my Mom got me a hand safety harness. Playschool toys makes these. It goes from my hand and the child’s hand. Many non-disabled parents use these too. I used it until my children understood that they had to stay at my side and not run, and that when I said stop, they stopped. So far we have a very normal household. Nothing out of the ordinary. The things that I can’t do with the kids my husband does, hiking, biking etc. I do however take them to Bible camp every year. My daughter and son set up the tent on their own. No small task, it’s an 11ft.x12ft.! For the most part they are VERY good kids. I do wish that I could do more things with them (I would never tell them that). For the most part if there are things that I can’t do, someone is always around that can do it for me. I do take extra care to be sure that I don’t get into a situation that I can’t get out of by myself. I sometimes wonder if my kids will be too careful but so far that doesn’t seem to be the case.
________________

Mother, age 34:
…I wanted to be treated as normally as possible. I needed more assistance with some daily chores later in the pregnancies. My balance was changed. I needed some help getting up sometimes…We did not put the wheels on the crib so that I could reach easier. We left the mattress high. I also used the bottles with the hole in the middle. This was much easier for me than the traditional bottles. I had diapers in every room of the house so I would not have to walk around so much to change her. I found bathing an infant a slippery ordeal. We used the infant bathing seat to assist me.
I tried to buy outfits with large openings and snaps at the crotch to make dressing easier. I tried to prepare as much before hand so that everything was right where I needed it. I was not able to carry my children around. I used an umbrella stroller vs. the large fold-out type. They were too bulky and large for me to handle. My children, now 9 and 5, are probably more relied on than most children. My 9 year old is taller than I am and does a lot of my reaching for me. When they were younger I tried to schedule appointments when I knew someone could go with me to help out. I had a hard time unbuckling car seats. I did not carry my children in an infant carrier. We haven’t dealt with teenagers yet. Say prayers please. I tried to go shopping with friends that didn’t
mind helping out. I have good friends. My family was very supportive.
________________

Mother, age 61:
…Pregnancy adaptations: utilizing a wheelchair (which I do to date) but I still walk with the aid of crutches and long-leg braces. [My recovery was] quick/responsive enough that 13 months after my 1st child was delivered, I delivered my 2nd child. I created ways to make motherhood simpler within the home. Thinking back, the only thing I was really not able to do is carry my child outside my home. Once they took their first steps and began walking, I never used a carriage. They walked beside me, (grasping onto one of my fingers as the rest of my fingers were grasping onto the handle-grip of a forearm crutch. I literally spent days on-end in the home unless someone came in to relieve me to transport the child into a vehicle. Toddler time was more fun chasing them around the house to make sure they weren’t into things that could be dangerous. Generally they were self-sufficient children (independent) and helpful—the older keeping a watchful eye on the next. As the teen stage became a fact of life in our home, I took on an extra job of chauffeur.
________________

Mother, age 35:
Child care complications: The only difficulty was caring for them at the infant stage. It was more difficult for me to pick them up, carry them, etc. than for a person without AMC. Overall, I did very well. That was my biggest worry, and I managed to deal with it.
________________

Mother, age 28:
Adaptations for childcare: Custom-built seat for my wheelchair, flexible nursing-table, adaptations made for the stroller - so that it might fit my wheelchair…
Child care support: Personal assistant, 20 hours/week in addition to my husband.
________________

Mother, age 29:
Child care complications: The only complications thus far (my child is 8 mos. old) is the heavier he gets, the more difficult it is for me to carry him. Also, it’s difficult to bend down and pick him up. I worry that I am going to drop him, etc. I rely on the baby’s father a lot. He carries our baby around much more than I do.
________________

Mother, age 43:
Adaptations for childcare: Adapted a walker on a rope to pull her around house after she outgrew her pram. Using Osh-Kosh overalls made it easier to pick her up. [I had] trouble dressing, bathing, diapering, opening-closing bottles, hard to hold on to her in public, used leash type restraint for
her safety. She also rode on my lap in my electric wheelchair. I had difficulty with car seats and strollers and clothes. If it was baby proof, I had difficulty with it. Hard to go anywhere alone, could not open a car door while holding her etc…Very frustrating. Other non-disabled moms were not too keen on including me in group activities, parks, walks etc. My mom and husband helped a great deal until [my daughter] was 12 months old and could walk. It became much easier after she could walk.
________________

Mother, age 35:
Pregnancy adaptations: I did not have to make any adaptations per se, but the last month or so my stomach was so large (and my reach not long enough due to AMC in part) that I could not drive the car and the nurse had to help me put on my socks and tie my shoes after my ob/gyn visits. I also remember having to use a wooden spoon to reach the light switch on/off over my kitchen sink (again due to limited reach). I needed a fair to moderate amount of support from family (husband) because as the baby got larger (delivered at 8 lbs. 9 1/2 oz) reaching things and general mobility became increasingly difficult.
Adaptations for childcare: The only real adaptations I made for child care was to always have her high enough (i.e. mattress in crib or bassinet) that I could “scoop” her up with my “good arm” and then go sit down and position her appropriately. I could not lift her straight out with two hands. When I got to the daycare, the provider would always lift her out of the playpen and hand her to me. I had already cracked the car door open so all I had to do was grab the open side and use my body to open it fully while I held the baby. We did have a little bit of a hard time finding a car seat that I could operate.
Child care complications: Complications while caring for infant/child included not being able to open the baby food jars (had husband do it). Also, I could not carry her with me when we went places (just me and her)- ALWAYS had to use the stroller - even for quick stops/errands because I needed my arms (only one works very well) to open the doors, carry the packages, get change, etc. and needed the stroller to carry the baby, diaper bag, and any items purchased when shopping etc. I also adapted by pulling in front of the windows at the dry cleaners and leaving her in the car and watching her and also using the wonderful “pay at the pump” when I had to get gas in the car etc. As she got older she was trained to stay in the stroller or hold hands - I could not run fast enough after her if she was to dart off. I also briefly used one of those elastic bands that goes from the mother’s wrist to the child’s wrist when we were in crowds/the mall etc. Some clothes for infants/toddlers had small buttons but mostly I tried to only buy clothes for her that I knew I could handle (lots of elastic waist bands) and velcro shoes were a great invention!
Child care support: I was not really able to safely bathe the baby for months - did not feel comfortable until she could sit up on her own. I have limits anyhow and then to add a slippery wet (sometimes crying) baby to the mix was too much and basically I didn’t feel the risk was justified by the effort it would have taken. Again thank God for my wonderful husband - he did it! I needed special support from my husband the most (especially in the beginning when she was so small) that just understanding that day-to-day activities (with AMC) such as getting dressed take longer etc. so when adding a baby to the mix frustrations from a physical standpoint can be increased a lot (caring for 2 with the baby needing EVERYTHING done for her) and any help in that area was greatly appreciated. As she has gotten older those concerns have all but disappeared because she can either cooperate better for me to help her or she can do it herself.

MDA Coverage for Arthrogryposis?

From: Mrs. Carolyn (John) Creger
4311 Cardinal Court
Casper, Wyoming 82604-5120

Always appreciate your issues. I have made several contributions over the years regarding my son Daniel with AMC. It is nearly time for his fortieth birthday!

I often respond to people in Avenues and write them in relation to questions and experiences they have related to mine. Half of them acknowledge my contact.

I have enclosed a letter written to me by the Muscular Dystrophy Association. Feel free to publish it as I feel your readers would be interested. Perhaps this "Avenue" could still be pursued.

Dear Mrs. Creger:

Thanks for your letter of October 20 in which you ask about MDA's coverage of arthrogryposis multiplex congenita.

As you know from the literature you've enclosed, AMC is a disorder that involves congenital joint contractures; it has many causes. Sometimes it exists in isolation, but it can also be a part of other disorders.

As you may also know from this literature and other sources, congenital contractures can be part of the picture in some severe forms of muscular dystrophy, particularly the types known as "congenital muscular dystrophies.

If you think your son's problem may be a muscular dystrophy, I'd encourage him to contact the MDA office nearest him and to make an appointment through that office with the nearest MDA clinic. The clinic may require a referral from your son's physician. You don't say where your adult son is now living, but he can find the nearest MDA office by looking in his local telephone directory, by calling the MDA National Office at (800) 572-1717, or by checking the MDA Web site at www.mdausa.org, under Clinics & Services.

If your son does have a muscular dystrophy or any other disorder in MDA's program, he's eligible to receive MDA services, which the local office can describe in detail.

If he doesn't have an MDA-covered condition, I'd advise him to make use of the Avenues group, whose pamphlet you've enclosed. He may also wish to contact the National Organization for Rare Disorders (NORD) in New Fairfield, Conn... at (203) 746-6518 and www.rarediseases.org; and the National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse (part of the National Institutes of Health) in Bethesda, Md., at (301) 495-4484.

We regret that MDA cannot cover every condition related to the musculoskeletal system. To be most effective with our fund raising and expenditures, it's necessary for us to keep our focus on muscular dystrophies and closely related disorders of muscles and muscle-controlling nerve tissue.
Robert Ross
Senior Vice President
and Executive Director
MDA National Headquarters
3300 East Sunrise Drive
Tucson, AZ 85718
520-529-2000

[Editor’s note: The decision as to whether arthrogryposis is one of the "covered" conditions under MDA is made by each local chapter. A letter from your doctor explaining that arthrogryposis is a type of neuro-muscular atrophy may help to make your case. You might also mention that arthrogryposis is a covered condition in the view of MDA of Canada.]

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From Families Around the World

From: Melissa C. Snyder
Born 7/13/85
7015 Devon Rd.
Columbia, SC 29209
e-mail: jsnyder6@bellsouthnet.com

Hi, my name is Missy. I am in the 8th grade at Hand Middle School in Columbia, SC. I am 13 years old and I have arthrogryposis. My interests are reading, swimming, guys, singing, acting, and going to the mall. I am very interested in talking to kids around my age about what kind of surgeries they have had and their interests, etc.... If any people my age or younger or even older need to talk to any one, I am a very good listener and of coarse a great talker. If any people my age need to talk about something that they feel that they cannot tell their parents I will listen.


From: Lois A. Sauter
10740 43rd St. N., Unit 401
Clearwater, FL 33762

A friend printed information from the Internet regarding Arthrogryposis. I am 66 years old, female, and have had it since birth. One doctor said I have a mild case but, lately, I have been having problems with tendonitis in my shoulders and neck, also slipped disks in my back. Also, most recently, breathing problems. Short of breath. Doctors tell me I have restrictive lung disease. If you could send me more information on this subject, or perhaps there is a support group on the East Coast (a little closer), I would appreciate it.

It was genetic in my case. My son was born with it in 1960. That is when I knew the name of the condition, because the doctors had no name or knowledge of it in 1932 when I was born.


From: Elizabeth Darden
2864 Arden Rd.
Atlanta, Georgia 30327
e-mail: JMDarden4@sandsco.com

My daughter is 1-1/2 years old and has Distal Arthrogryposis and had been in therapy since she was 3 months old. She had vertical talus surgery at 8 months, was casted for 3 months, and she is now walking beautifully and into everything! The question that no doctor can answer is the height and weight potential for Distal Arthrogryposis children. Hall is very petite - 17 lbs. And 29 inches long. She is in proportion but is just very small. I would love to hear from anyone that has a D.A. child and any information on the potential size of these children.


From: Pauline Bourbeau
871 Middlesex St. #5
Lowell, MA 01851

I’m writing this letter about my children. Anthony and Marissa are both affected with arthrogryposis. Their father also has arthrogryposis. Anthony is four years old. He is in his second year of preschool. His wrists, hands, hips, knees, feet are all affected. He walks now with little trouble. He has P.T. and O.T. 4 days a week. He is a very happy and active child.

Marissa is two years old. She has a more severe case. She does not stand. She scoots on her bottom to get around. She had had many surgeries. She has been fitted for a wheelchair recently. Her doctors believe her chances of walking are 50-50. She is a very happy girl. If anyone is in this situation, or has been in this situation and would like to talk, please contact me.


From: Helen Kleinhans
5153 W. Argyle St.
Chicago, IL 60630

Thanks again for Avenues. I wish my mom had known the good you are doing for all AMC children. Mom was born in 1903, with AMC. Nothing was known about AMC. The doctor said she wouldn’t live to be two, then six, then twelve. We lost Mom at 65.

Sandy, now 37, still works at the bank. She has her own desk and computer. She uses the eraser end of a pencil to punch the keys. She’s fast! Sandy bought her own home last year. She is now looking to buy a new car. George and I are retired and enjoying it.


From: Lisa Meyer
1415 Lake Crest Dr.
Alexandria, MN 56308

Greetings from Minnesota. Wade took a call last June to a Lutheran church here in Alexandria. Of course, this meant we had to find a new spine specialist for Bryan (remember we adopted him from Ecuador w/arthrogryposis, scoliosis, and kyphosis in 1995). Dr. Benson(supposedly) was his doctor at the University of California, Davis, although we hadn’t seen him personally for a year, perhaps even 18 months. We got some recommendations from him and went to see Dr. Lonstein at Gilette Children’s Hospital in the Twin Cities. About August, I could see that Bryan’s curvatures were worsening and so I dreaded out first visit.

We finally got in at the end of October and his scoliosis was 65 degrees and kyphosis was at 95 degrees. That was about a 10 degree change for each from May. Dr. Lonstein recommended surgery within the next six months. After getting over the initial shock of such news, we set the date for surgery for Jan. 20. So by summer Bryan could go out and play.

On Jan. 20, Bryan had a posterior/anterior spinal fusion of T1-T12. They had a hard time intubating him because the arthrogryposis has limited his head/neck area. He came out of surgery just fine but in a body cast and halo. He was to be in ICU for 3-4 days but ended up being 7 because they didn’t want to pull the breathing tube until they were absolutely sure it would be OK. Jan. 31 we finally got to go home and start the healing process. Bryan had to lay flat in his body cast/halo for 3 months. Yes, it sounded like an impossible task, but Bryan met the challenge(as he always has) with a determined spirit. On April 13, the cast and halo was removed and they fitted him with a Milwaukee brace which he wears 24 hours (except for bathing) for the next year. He has gained back most of his mobility and speed and never complains about his brace. God had been so good and Brian is a blessed boy.


From: Lina Pan-Hawkins
C/ParaQuad
208 Wellington Street
Collingwood Vic 3066
Austraila
e-mail: lpane@paraquad.asn.au

My name is Lina Pane-Hawkins. I am 32 years of age and I was born with arthrogryposis. I'm from an Italian background and have a very supportive and extended family. My life so far has been as normal as you can have.

I've just recently accessed Avenues on the Internet and its been so amazing to me to find so many people in the same situation and you are so lucky to have an avenue to access. In Australia there is nothing like this. So far I have only met two other people with similar disability however they are both male, therefore the experience is so different.

I want to share some of my life to hopefully illustrate that just because you have a disability doesn't mean you can’t dream and achieve that dream. All you need is the desire and to think outside the square!

I am a qualified social worker. I work for a disability organisation and help people with disabilities achieve their dreams. I am also a published writer in disability and women's issues and ethnicity. My goal is to make a difference and I try to achieve it in my everyday life.

I also drive. This was my greatest achievement. I have a gorgeous red car fully modified like a "space ship" that gives me my greatest independence. I've now been driving for ten years. I've traveled overseas three times.

I recently got married to the most gorgeous man, and hopefully one day soon we would love to have a child. This is where I hope another woman has experienced this wonder and wouldn't mind sharing with me. Anyone with any information would be received gratefully.

As you can see I'm living life, not a life sentence. I won’t say that its been easy, mostly tough, but I wouldn't have my life any other way and if I had a choice to live my life all over again I wouldn't change a thing as it has given me more opportunities than any 'able bodied person' could achieve.

So if you have arthrogryposis or are a parent or family member or friend, remember that anything is possible and dreams can come true. I'm living truth as not many people believed that I could achieve what I have. From a child that couldn't walk and having 7 different operations until teenage years, then walking on her own unaided and doing her own personal exercise and weight training to today, achieving her dreams. All you need is determination, a streak of stubbornness, positive attitude and dreams and of course people who believe in you.


From: Kellie Busher
149 Birkett St,
Bedford, 6052,
Western Australia

I wrote to you roughly two years back in which you kindly responded by sending me a video and a booklet of information. At that time I was just coming to terms with the diagnoses of my daughter and feeling very shell-shocked so I never replied to say thank you and join your support group.

My twins are nearly four now and I have dealt with the reality of it all and stopped looking for miracle cures and mis-diagnoses. I would very much like to join your support group.

I would also like your help in finding other parents of twins affected by AMC. As Perth is small in population, AMC is very rare here and I have not been able to find anyone with affected twins. Only one of my girls is affected but the ironic thing is they are identical, we have the DNA test to prove it. Ellie is only affected below the waist- both hips, right knee and right foot.

I look forward to your correspondence. My husband has a email address at his work if this would be easier and quicker for you. He can be contacted on mark.busher@water corporation.com.au. If you are able to find any parents of AMC twins you can gladly pass the above address on.


From: Sandy Golias
4197 Pullman Lane
Austell, GA 30106
e-mail: Yosemi@aol.com

Hi! I finally feel I have found something that may explain our 2 yr. old's condition. We have been limited by lack of medical information available on her, we adopted her from Peru when she was 15 months old. She was born with gastroschisis that was surgically repaired when she as 36 hours old. It was noted in her chart that she had a paralysis of her left arm. It was treated as a brachial plexus injury.

After getting her home, we noticed so many things, her shoulders rolled forward, she had no creases on the inside of her elbows, her left hand turned out and the fingers contracted. Her right hand was better, but something was off about it. She could not bring food to her mouth without help. She could not lift her arms. So many overwhelming things.

We had her seen at Eggleston's Children's Hospital in Atlanta by a neurologist and after two MRI's and complete x-rays, everything looked fine. No explanation. She has been in OT since we brought her home and we have noticed a huge improvement. In Sept. I read something on the web about AMC in relation to another gastroschisis child, but my doctor had never heard of it. Now the more reading and talking to people that know about this, I am convinced this is what is going on with our 2 year old. Now I need a doctor! Do you know of any in the Atlanta or even Birmingham, AL area?

Would appreciate any help you could give with this. I have been so worried that she had something wrong that would progress before we could find a way to help. But she has made steady improvement with the OT.


From: Keelan and Barbara Parham
7428 Spring Villa Cir
Orlando, FL 32819
e-mail: LUNARDONUT@aol.com

A few weeks ago someone had given us information on the clinic that is in Seattle. We are in Florida, so it is quite far, but we really were curious about it. In looking into it further we decided we REALLY wanted to take our daughter Brady. For those of you that don't know about it, it is an Arthrogryposis clinic that happens 4 times a year. In a nutshell it gives you the opportunity to meet with professionals that specialize in AMC. It is a world renowned clinic that is known for their involvement in AMC, they have seen thousands of cases.

Once we found out that we could meet with all of these specialists the same day, in the same place, we were eager to go. We called and the June 30th clinic was full. We were really disappointed because Brady is scheduled for foot surgery in a month and we really wanted a second opinion before then. We begged to be seen but there was nothing they could do; we asked to be put on a waiting list but they said they never have cancellations..... We hung up the phone and prayed. On the 24th, two days later we decided to call back. THEY HAD A CANCELLATION!! Praise God!! The next days, getting ready to leave town, are a blur.

We dropped everything and booked a flight. (yes, a flight without 7 days advance notice....ouch...). We were on our way. We would like to hear other peoples stories that have attended this clinic, is there anyone on the list that has a story too? Most of the people that were at this particular clinic seemed to be from the Northwest.

The people that organize the clinic arrange accommodations for you there. There is a place called "Children's Village" that you and your family can stay in for $12 a night. Which we thought was really inexpensive and would be great. We were under the impression that it was kinda like a hotel.....hmmm, it was a little different. It was more like a sorority house, but you can't beat the price. If you are staying for 3 days or so it is definitely worth it, but if you are only staying one night, you would be better off in a hotel. You have to do all of your laundry/bedding (2 hours alone!!) and clean before you leave, which is quite time consuming, especially if you are only staying one night. I am passing this information on so no one else would be surprised like we were. Did anyone else ever stay there? What did you know about it before you went?

Anyway on to the actual clinic. Our overall opinion of the clinic was if you have the means to go, absolutely go. We really feel it was worth our time and money and we highly recommend it. If you call 206-526-2180 and ask for Karen Peterson (she is in charge of the clinics) she will send you an informative packet that covers everything about the clinic. You have the option to meet with as many professionals that would be beneficial. Your choices are Physiatrist, Rehab Nurse, Genetics Physician, Orthopedic Physician (upper and /or lower extremities) , OT, PT, Speech, Dietitian, and Education Specialist.

Our first appointments of the day were with the OT and PT. They went over the treatment that Brady was currently receiving and taught us some additional therapies to do with her. We also had new splints made for her. They used a different type of material there. Little things like this will help our local OT with future splinting. Overall the opinions of both of these therapists was that Brady was coming along wonderfully and they believe that she is currently receiving the best treatment. ......result: peace of mind for mom and dad.

Next we attended a mini-luncheon that most of the clinic attendee families went to. We had the opportunity to meet several other families and had a great time.

After that we were taken to a room and from that point on, all of the rest of the appointments came to us!!! (Can you imagine all of the doctors being in the same place and coming in to see you one after the other? Here in Orlando we would have had to run all over town to see the number of people we saw in only a few hours!!! And that's if, which is highly unlikely, we could get appointments with all of them in one day!) The nurse came in next and went over our questions and concerns. She also made sure that everything was going as we had expected.

Then came the upper extremities Ortho. (We were a little scared to see him after a mother at the luncheon had given us a not so nice report on him) Thank God, he was wonderful. He agreed with our local doctor that Brady would not need any surgery on her hands. He was quite impressed with how well her hands were from splinting. He gave us a few extra suggestions and was on his way.......... Result: More piece of mind for mom and dad.

Here's where our day got really interesting. The Geneticist came in next. She really knows her stuff. She has personally seen hundreds of AMC cases. She is even one of the editors on the "Arthrogryposis: A Text Atlas" book that we have all been talking about lately. Her main job is to identify the exact classification of AMC. We were really looking forward to this appointment as Brady was never "conclusively" diagnosed. All of our Orlando doctors go back and forth between Distal AMC and Amyoplasia. This Geneticist says without a doubt, Amyoplasia after seeing Brady's newborn pictures. We were so excited about what she told us next, I want to ask the members of the list if this rings true. She said when dealing with Amyoplasia, the odds of us having another child affected by AMC is VERY rare, almost like winning the lotto twice. And that it has NEVER happened that a person with Amyoplasia has passed it on to their children. Is this true??

Is there anyone out there that was diagnosed with Amyoplasia that passed it on to their off-spring? She said that in cases of Distal AMC their is a 50% chance to pass it on.

Our final appointment of the day was with the lower extremities Ortho., which was really important for us as well. Brady is scheduled for a heel cord release in 5 weeks and we really wanted to get a second opinion on the type of procedure, post op, timing/age, etc. We were pleased to learn that he felt that we were right on schedule with everything. The only thing that he disagreed about was her hip. He believes that multiple surgeries should be done at the same time. He would put Brady's hip back in the socket at the same time he did the heel cord release. This makes sense since there would be less down time overall. However, our local doctor prefers to do the surgeries separate. We have discussed this and feel at peace with our local doctor and are getting the surgeries back to back instead of on the exact same day. Any questions or comments on multiple surgeries vs. individual surgeries?

More than anything we felt this clinic really helped reassure us that we were doing everything right . Until now, we were just trusting those people that we were sent to locally. When she was born, everything was a surprise and we were just thrown to professionals as we knew nothing. Only to find that some of them knew even less than we did. We are so relieved to know that we are getting the same treatment locally that we would at a center that specializes in AMC.

Hope this answers some questions. We tried to answer the questions that we had before we went. I look forward to hearing any responses you guys can offer!! The clinic really was wonderful and we met some great people!! (We even met a family from Orlando!! Can you believe we both had to go to Seattle to meet when we are only minutes from each other?!)


From: Jenifer Winter
206 Montclair Blvd.
Savannah, GA 31419

My son Bryce was diagnosed at birth as having Arthrogryposis. He is now 11 months of age and we have had a very busy year. He is having surgery on his feet next week 10-28-99 at Shriners Hospital for the vertical talus. I have gotten information from the doctors the Internet Shriners, and of course learned about this disease from the many people that work with him on a daily basis, but I ran across your name as having information on this and whatever you could send me would be of help. It seems like every time we get one problem fixed it time for him to work on some new challenge, and I understand that no one knows the reason why this even happens. He is doing very well, but any info I can get on this to help him in different way to better his condition would be appreciated.

We are currently working with him on:

  • splints for his hands
  • casting since birth- surgery next week, then we will have him put in AFO's
  • back brace for scoliosis- may need further treatment
  • physical therapy twice a week and at home daily
  • special instructor for strengthening
  • Occupational Therapy- splints
  • working with weight bearing.

From: The Editor

Our daughter, Melissa, passes several significant milestones in the last 18 months. She bought a car, learned to drive, moved away to college, and turned 21! The car (a 1989 Grand Prix) needed only minor modifications for Melissa to drive it. It came with an power driver’s seat that we mounted on rails to allow it to go back about six more inches. That way, Melissa can sit down without having to bend her leg braces. We added a block to the gas pedal to bring it even with the brake pedal. We also added a stop on the left side of the brake pedal to keep Melissa’s foot from sliding off. Melissa uses her left leg on the brake and right leg on the gas. Melissa is currently attending Sonoma State University in Rohnert Park, California (near Santa Rosa). She’s majoring in music (voice and percussion) and is also taking classes in graphic design. She lives in an apartment off campus with one roommate and her Canine Companion Ungar (a Golden Labrador).

One big concern we have at this time is health insurance. When Melissa turns 22 she is no longer covered under our policy. We’re searching for a policy that will continue to cover such things as her braces without being too costly.

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From the Medical Professionals

From: Gregory Hamer
Orthotic Department
New Children’s Hospital
P.O. Box 3515
Parramatta NSW 2124
Australia
Phone:(61) 02-9845-3679
Fax:(61) 02-9845-3539

My name is Gregory Hamer and "The Royal Alexandra Hospital for Children" employs me as an Orthotist in Sydney Australia. I am after information on Orthotic treatment for children with Arthrogryposis.

I currently see a young lad who is now 13 years old. This lad has Arthrogryposis that affects his legs and hands. He is an active boy and does a lot of swimming and walking. The problem is that he has a fixed Plantaflexion of 60 deg. on both feet and flexion contracture of 45 deg. on both legs and a small degree of hip flexion bilaterally.

He is currently wearing a pair of KAFO’s with Otto Bock drop lock knee joints and 20mm side steels. They are attached to a pair of Surgical Boots with an 8mm round ferrule. The KAFO’s have been made with 15 deg. of flexion at the knee to help accommodate his knee flexion. A leather kneepad lined with lambswool is also used.

The problem with all this is that he is only a small build and this is too heavy for him to use for extended periods. Making the KAFO’s from lighter material results in bending of the Orthoses.

Have you had experience with treating clients with this degree of flexion deformity? Do you have any suggestions on Orthotic materials that are lightweight and strong that a KAFO with knee joints could be made from?

I would appreciate any comments and suggestions on further treatment and ideas for this lad.


From: Sandra Gelber, BSPT
e-mail: gelbersandra@hotmail.com

I am a physical therapist currently working with a 2 1/2 year old child with arthrogryposis. This little guy has no upper extremity movement, other than some flexion in the second digit of the right hand, and ulnar deviation of both wrists. We would like to begin toilet training, and some dressing skill instruction. Does anyone have ideas as to how we could most successfully introduce these skills? I would greatly appreciate any ideas or suggestions you may have. Thank you.


From: Mari Pesavento
Hope Children’s Hospital
Oak Lawn, IL 60453
e-mail: mjpes@yahoo.com

Please place me on your list of interested therapists. I work at Hope Children's Hospital, Oak Lawn, IL . I did find great resource people from your Interested Therapist list.


From: Joann DiStephano OTR
389 Half Hollow Rd.
Dix Hills, NY 11746

I am an Occupational Therapist currently working with a 5 year old little boy with Arthrogryposis. I am very interested in information for school and/or play modifications, activities, games, etc. Also, since he is attending kindergarten, I’m looking for writing modifications. I would greatly appreciate any and all information.

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Short Notes

Thanks:
We wish to express our thanks to the family of Joseph Shapiro, who left a generous bequest to Avenues in his estate.

AMC Chats on the Internet

From: John Sneddon
e-mail: amcchat@aol.com

Just a reminder to everyone, we now hold chats twice a week. You're welcome to join us on Tuesday evenings beginning at 6:30 PM Central Time (7:30 EST). Host for the Tuesday night chats is Tracy and we're still looking for input on building a major foundation or support network for Arthrogryposis. You're ideas and help are much needed. Chat page: http://members.aol.com/amcchat/chat.html. Hope to chat with you soon.

Eating Aids Designed for Persons with Arthrogryposis
My name is Nate Pease. I am writing you because I found your name on the Internet. It gave a list of NORD locations interested in AMC so I wanted to contact you about an exciting new product that helps people with AMC and a wide range of other conditions. I have a son, Jordan, who has AMC. He is eleven and is the Greatest.

The product is: Adapt-Able eating utensils that you can configure to make up the lack of range of motion a person has. We designed this utensil for Jordan, but found that it will help so many others. I have provided a flyer to show you a little how they work. If you have questions or need to get more information, please don't hesitate to call. Thank you for the wonderful work you do in helping people have a more full and independent life.

Jordan's Mobility Solutions, Inc.
P.O. Box 132772
Tyler, TX 75713-2772
903-526-2100
Fax 903-526-2103
e-mail: mobility@ballistic.com
www.disabilityaccessories.com

Books by Charlotte Thompson, M.D.
Pediatrician Dr. Charlotte Thompson, who has seen many children with arthrogryposis at the Center for Handicapped Children, San Francisco (tel. 415-771-7057), has published a new book entitled: Raising a Child with a Neuromuscular Disorder (Oxford University Press, ISBN 0-19-512843-5). The book addresses the questions and difficulties that parents of a child diagnosed with a neuromuscular disease may face from initial diagnosis to adulthood. In addition, a new edition of Dr. Thompson’s book: Raising a Handicapped Child: A Helpful Guide for Parents of the Physically Disabled (Oxford University Press ISBN -O-19-513253-X) has been issued.

New Publications from NICHY  (National Information Center for Children and Youth with Disabilities)

If you would like copies of these publications, call 1-800-695-0285 or download them from the NICHY website.

Transportation to Medical Appointments
Call the National Patient Air Transport HELPLINE (1-800-296-1217) if you need long-distance air transportation to get to specialized medical evaluations, diagnosis, or treatment. Or go to their web page at www.npath.org. You may also email a request for assistance to npathmsg@aol.com. The Administrator of the Helpline can be reached at 757-318-9174.

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