Archive for the 'awareness' Category

Hall’s Contractures

Tuesday, July 9th, 2013

You all know my kids have arth……osis something or other, right? We also call it AMC for short, like the movie theatre. So try Googling it and you’ll get the movie theatre. In fact I Googled AMC because no one can spell arthrogrywhatsis and the first entire page was all movie stuff. Page two had American Mathematics Competition. Awesome. AMC.org is cancer-related. Did you mean Appalachian Mountain Club? Google wondered on page three. Army Material Command? Air Mobility Command? Aids Malignancy Consortium? Allied Media Conference? American Music Center?

To help Google out I put in “AMC medical” so now it’s looking for medical conditions. I got American Medical Concepts, several Animal Medical Centers, Albany Medical Center, Atlanta Medical Center, SoCal AMC (if you want some weed), American Ambulance Service… and eventually Arthrogryposis Multiplex Congenita. (That’s how you spell it!)

Arthrogryposis comes from the Greek. It literally means arthro=joints, gry=crooked, posis=a condition. (You probably know this from the What is Arthrogryposis? link on the side of this blog.) Mulitplex means in multiple locations. Congenita means “from birth.” So AMC literally means a crooked joint condition in multiple parts of the body that you get from birth.

Some days I hate that I can’t tell most professionals my child’s condition without being asked, “Um… can you spell that?” This includes physical therapists, occupational therapists, school teachers, regional center directors, early head start program coordinators, pediatricians, etc. These are all people who work with kids with disabilities! Try telling the average person on the street and you just get a funny look and a step back.

Today we played a little game on Facebook called name that condition! Wanna play? Name that condition! These are the real names of a bunch of diseases and conditions that got named something more pronounceable and more memorable later on.

1. Regional Enteritis
2. Reduced Synthesis of the Neurotransmitter Acetylcholine (my aunt has this)
3. Nontropical Sprue (an orphan from my newsfeed has this, he got a family!)
4. Varicella (I had this)
5. Borrelia burgdorferi
6. Epidemic Parotitis (both kids had this shot)
7. Hypokinetic Rigid Syndrome (my grandpa had this)
8. Osteomalacia (my friend has this)
9. Ascorbic Acid Deficiency (pirates have this)
10. Gastroenteritis (that one December my whole family had this)
11. Toxic Epidermal Necrolysis
12. Medial Tibial Stress syndrome
13. Hemagglutinin Type 1 and Neuraminidase Type 1 (remember the media buzz around this?)
14. GM2 gangliosidosis or hexosaminidase A deficiency
15. Maladie Des Tics
16. Acute or Chronic Nephritis (this has a cheery name)
17. Gonadal dysgenesis
18. Arthrogryposis multiplex congenita

The answers were easy to pronounce and I’ve heard of all but two of them… but even those two I can pronounce easily! 1. Crohn’s, 2. Alzheimer’s, 3. Celiac, 4. Chickenpox, 5. Lyme disease, 6. Mumps, 7. Parkinson’s, 8. Rickets, 9. scurvy, 10. Stomach Flu, 11. Stevens-Johnson syndrome, 12. shin splints, 13. Swine Flu, 14. Tay-Sachs, 15. Tourette’s, 16. Bright’s disease, 17. Turner syndrome and of course 18. that one condition both my kids and lots of our friends have that no one can pronounce.

So your condition is super hard to say and look up! So what?! What’s the problem?

Here’s the problem: Research. Funding. Long-term studies.

Something I learned at the AMC conference totally bothered me. 1 in 200 people have a joint contracture. ONE IN TWO HUNDRED! That’s more common than spina bifita, muscular dystrophy, cerebral palsy… you know, conditions you’ve actually heard of! If something is this common why aren’t there more grants out there for it? Why aren’t more people studying it? Why isn’t there a study on the long-term effects of these surgeries my kids need? Why isn’t there more research on joint replacement surgeries? Why don’t my local doctors know as much as Dr. van Bosse in Philadelphia and so I have to drag my whole family 3,000 miles to get the help we need?!

Sure having multiple contractures (or having at least three contractures in at least two parts of the body, a.k.a. arthrogryposis) is less common (1 in 3,000), but we don’t care if you study one contracture or study them all! Just study them!

I truly believe that our biggest problem is that we’re not memorable. Kids with arthrogryposis have been all over the news. I get updates every time someone is mentioned in an article or on TV. And it’s often. Two of our friends with AMC are published authors who wrote books about their condition! One gal was just in the paper. One more on a billboard for AMC awareness day! We’re out there and all over, but no one can remember that long stinkin’ name!

So I’m sorry, I know this will be unpopular for some of my AMC family, but for the sake of our future and our funding and research I declare a need for re-branding!

  • Imagine if people with amyotrophic lateral sclerosis were just happy to have that long diagnosis. At one point they called it ALS for short. Did that make it better? No. Did that get them funding? No. But who hasn’t heard of Lou Gehrig’s disease? It’s the same thing! Only with a public awareness like no other!
  • “I’m sorry but we prefer to call it amyotrophic lateral sclerosis.” Said no one ever.

So what do I suggest?

What step should we take?

What should we call it?

All good questions.

I would like to call my kids’ condition “Hall’s contractures.”

Most people I know can remember and can say “contractures.” Plus the word contracture is very descriptive. And “Hall’s” is to honor Dr. Judith Hall who has devoted over 40 years of her life to studying and typing AMC. She is the undisputed arthrogryposis research queen. If it weren’t for a grant she received in the 1980s a lot of us wouldn’t know what our kids have. She is retired but is still on the AMCSI board, still attending conferences, still helping parents and still doing research into arthrogryposis!

Hall’s contractures. I just like it. Hall’s “condition” is some mathematics thing having to do with Hall’s theorem so that’s taken even though I kinda like it better. We can do that too! I don’t care. Just something!

I dream of a world where someone asks, “What do your kids have?” And I answer, “Oh they have Hall’s.” And the person nods and smiles and has at least heard of that. My bigger dream is that “Hall’s” gets lots of money for research into common and multiple contractures and their effects on the body long-term. And there are still kids out there with arthrogryposis (Hall’s!) who don’t know their type and are big mysteries. Let’s get more funding! Let’s get more research! And let’s rebrand this condition until everyone has heard of it!

 meddic

 

Vegas baby!

Monday, July 8th, 2013

This last week was the AMC Conference in Las Vegas! We drove up to see hundreds of AMCers from all over the place! There were over 500 attendees! The drive was six hours. Six. Long. Hours. (Roland slept for maybe five minutes total.) Here’s a cartoon I drew of the drive. ;)

car seats

Hey I only thought about it!

So one big thing I wanted to find out in Vegas was what type of arthrogryposis Roland has. Dr. Me (Myself and I) had already diagnosed him with mild amyoplasia, but he wasn’t “classic” amyoplasia. His limbs are stronger than typical amyoplastic limbs for one thing. He has no inverted shoulders for another. And have you seen his  nice, functional hands with minimal finger contractures? No abducted hips. No downward bent wrists (they are stuck upwards and are unable to go down). Really he presents a lot differently than Laelia despite all their similarities–stork bites on their faces, knee and elbow flexion contractures, clubfeet, etc. Well we would get to meet with the famous Dr. Judith Hall and take advantage of her 40 years of AMC-specific research. But unlike when I met with her about Laelia years ago, this time we had a big question mark by all our kid’s family history. We joked that we wanted to make it hard for her, to test her stuff. But of course Dr. Hall is knowledgeable about all 400+ types and was up for the challenge!

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Dr. Hall (far right) consulting parents all day for free

So ready for it? Roland has… *drum roll*

Arthrogryposis – Distal type 2E

There are 85 cases of Distal type 2E known to Dr. Hall. Super rare. Now I know what you’re all thinking, “Distal? But distal only affects hands and feet! Plus he has lots of muscle loss that’s indicative of amyoplasia!” Yeah that’s where my mind was too. (Okay maybe that was just me. ;)) But apparently this type is very VERY similar to amyoplasia, in fact it probably could be described as a light case of amyoplasia in most ways. So how is it not just “mild amyoplasia?” Well there are 17 types of Distal AMC. Type 1 is just hands and feet. Type 2 is hands and feet and “something else.” So we’re type two because Roland has severe elbow and knee contractures as well as a smaller jaw. But we’re not just type 2, we are type 2E. This type is NOT genetic and has everything in common with amyoplasia, including the big mystery of what causes it. Dr. Hall mentioned that she thinks the difference between amyoplasia and Distal type 2E is just the timing of when whatever caused it… happened. So Roland’s case is caused earlier during development in the womb when different things are growing and Laelia’s classic amyoplasia happens a bit later. (Or vise versa. I can’t remember.) Roland’s AMC was caused when his face was still in development. His asymmetrical face has large eyes, a large nose and small jaw. Dr. Hall said that classic amyoplasia babies like Laelia have “perfect little faces,” but Distal 2E kids have Roland’s exact face. I was told in no uncertain terms that that is NOT a “Russian” or “Ukrainian” nose. They don’t get that big at his young age! Haha! To give you an example here’s another little boy who was diagnosed with the exact same thing on the same day.

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They also have very similar personalities!

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They’re like twins, am I right!

This is A.J. His parents started the Raise Your Glass foundation! I contributed a writing piece to their efforts to celebrate Dr. van Bosse and raise money for Shriners Children’s Hospital a while ago. Crazy small world!

Okay so we got a diagnosis. Now to the rest of the conference!

Oh actually one more thing I wanted to share. We saw a gal at conference who was born in the 60′s and who walked around in Laelia’s exact braces. It’s rare to see KAFOs that are one piece (no joints for knees) and there she was with Laelia’s exact gait too. And I realized that there was a small part of me that held fast to Dr. Fathead’s words from long ago. He told me that he would not do anything to help straighten my daughter’s legs out because “once she hits 60 pounds she won’t be able to stand and will crumple under her own weight.” He implied this would happen with braces. Okay I just looked it up and found where I blogged about it. To quote my grieving self from February 2008:

We switched orthopedic doctors today (Friday). This new one also does not believe Laelia will walk either, but actually explained the physicality behind that belief. Whatever went wrong inside me, made it so that her muscles didn’t grow normally. The doctor said her AMC is like Polio, we don’t have a cure and don’t understand why she doesn’t work right. So even if she were able to be straightened out, she doesn’t have the muscle to walk. Even if we did a muscle transplant, the muscle wouldn’t work. Even if we could get her to stand, she would not be able to do so once she got to be around 60lbs since she won’t be able to hold up her own weight and her muscles will not grow with her. She also does not have the arm strength to use a walker or wheelchair. She’s not quadriplegic since she can twitch fingers and slightly bend elbows. Once again we find ourselves crying out to God and stunned with grief at the thought of a little girl who won’t dance on her wedding day or who can’t go to the bathroom without assistance.

Excuse me while I go back in time and cold cock some doctors. Someone have a drink I can throw in their faces really dramatically? Because… really doctors? Really?! Amyoplasic limbs “will not grow with her?” Ugh. Here’s a science lesson for you for free, whatever anterior horn cells developed into muscle WILL grow and will grow large as they compensate for missing muscle in amyoplasia kids. Laelia didn’t have certain muscles until we worked them (something you told us not to bother with) and she couldn’t do that until she was in a position to stand… a position you refused to put her in! Boo on you! Ugh. I remember asking so many questions that appointment and just getting shot down until all hope was gone. (And he took away hope that my girl would walk down the aisle or dance at her wedding! Watch this video taken at conference with her little boyfriend and tell me she won’t! I dare you!)

Okay so now I logically know that the whole 60 pound thing is bunk, but there’s a small part of me that unconsciously worried that 15 pounds from now, when Laelia reaches the magical 60, she would crumple. This doctor obviously had never met an adult with AMC before! And I’m glad for the opportunity to face those unconscious fears I didn’t know I still had! Plus when Laelia saw adult leg braces just like hers she got excited, “That’s a grown up like me! She walks and does grown up things with braces like mine!” That’s why we do AMC conferences y’all!

Okay onto more pictures!

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Right before we were going to head out the door Roland made a mess. Typical.

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These are my children back before the six hour drive, back when they were sane.

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Roland’s first 4th of July! Check out that shameless American flag shirt for my new American!

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Tracey, Deborah, Nick and Keely.

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Scarman posing with Laelia and Ryan. He hadn’t seen them since they were both in wheelchairs!

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Yes we put baby in the closet, but in our defense it was a giant walk-in closet and we all actually slept after he was out of our beds!

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Lily, Laelia and her boyfriend Ryan.

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This is how Roland sits in a chair. *chair fail*

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We hadn’t seen Tyler since Reenee came out to San Diego for a visit and some PT goodness.

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Laelia, Elliot and Ryan

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Ileana, Tracey and the kiddos

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Ani lovin’. They both ran into her arms. Roland likes to hang.

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The San Diego crowd!

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These two…

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Laelia and Lucas. She’s tickling his feet using the invention to lift her arm that he inspired when he bit his sleeve to lift his arm!

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Laelia and Daddy

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How to carry a Laelia.

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How to carry a Roland.

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How to freak out your mom when she’s distracted taking pictures. (Have your dad lower you down above her head until you’re in the shot! I about jumped out of my seat!)

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Fall into Lily #376

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Crowded around the iPhone

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The kids doing Ring Around the Rosie for the Talent Show. Roland started walking three months ago, Laelia (without crutches) nine months ago and Ari (far right) five months ago.

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Fall into Angie #385 (What? My kids like to fall into people!)

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Here’s one of Laelia falling into the dads when they were not ready for her.

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Here’s one of her flat out tackling Ward to the ground. Where is her mother? Oh right. Taking pictures. ;)

We went to sessions on genetics, adoption support, mom support (for me), dad support (for Charles), alternative therapies and more! We had to take long 20+ minute walks just one way to get to the main conference area from our hotel room and both kids walked the whole time! Then we came home and I’ve spent all today avoiding unpacking. So I drew another cartoon! (Actual conversation where Charley and I both described each other’s jobs.)

unpacking

Click to enlarge.

I hate unpacking.

 

June 30th is arthrogryposis awareness day!

Saturday, June 29th, 2013

Laeliacovered - Copy (2)

It’s Arthrogryposis Awareness Day!

I wanna play! I wanna play! What do I do?

I’m glad you asked! There are four things you can do to participate!

1. Wear blue today!

2. Share pictures of you wearing blue on Facebook and tag me so I can show the kids!

3. Practice pronouncing ar.thro.gry.po.sis!

4. Learn three new things about arthrogryposis!

To help you with #4, Tracey shared one fact a day about AMC every day in June leading up to AMC Awareness day. I have copied and pasted them below.

!!!

Day 1: Arthrogryposis is defined as multiple congenital (from birth) joint contractures or multiple joints that are stuck in 1 position and have very little flexibility. (A comprehensive fact sheet (6 Pages) can be downloaded here: www.tiny.cc/amc30days and a short (1 page) fact sheet can be downloaded here: www.tiny.cc/amc13)

Day 2: a newborn has to have 3 contracted joints in two different body areas to have a diagnosis of Arthrogryposis. ARTHROGRYPOSIS AWARENESS DAY 2013.

Day 3: Arthrogryposis in an umbrella diagnosis, which means that it is part of other many conditions and syndromes. These conditions and syndromes are usually referred to as the type of arthrogryposis. Currently, there are 400 identified types of AMC. Amyoplasia, Distal and Escobar Syndrome are the more common types (but they’re still rare within the general population). Some individuals never have their type of AMC identified. ARTHROGRYPOSIS AWARENESS DAY 2013.

Day 4: All types of Arthrogryposis occur 1 in 3,000 live births. Each type is than more rare from there. Amyoplasia occurs approximately 1 in 10,000 births. Sadly, about 20-30% of infants born with AMC won’t make it to their 1st birthday because they have severe central nervous system dysfunction or have a genetic type that is lethal and some baby’s don’t make it for unknown reasons ARTHROGRYPOSIS AWARENESS DAY 2013

Day 5: Arthrogryposis is caused by an unborn baby not moving properly during fetal development. A baby has to move its limbs for proper joint development to happen. When a joint doesn’t move for a long period of time, it gets stuck and contracted. Why a baby fails to move its joints depends on the type of AMC. For example, In Amyoplasia (a non-genetic type), it happens the muscles fail to develop. In Escobar Syndrome (a genetic type) the messages that impact a person’s muscle movement is affected, the message isn’t able to get through very well making it more difficult for them to move ARTHROGRYPOSIS AWARENESS DAY 2013

Day 6: Common joints contractures in arthrogryposis include: Clubbed feet or vertical talus, extended (straight) or flexed knees, dislocated and/or externally rotated hips, internally rotated shoulders, extended or flexed elbows, flexed wrists, adducted thumbs (stuck-in- palm), fingers fisted or extended ARTHROGRYPOSIS AWARENESS DAY 2013

Day 7: arthrogryposis is not curable but it is very treatable! Usually the goal of treatment is to make a person as independent as possible in activities of daily living (ADL’s). ADL’s are those things you do every day to take care of yourself (eating, dressing, ect) ARTHROGRYPOSIS AWARENESS DAY 2013

Day 8: Treatment for arthrogryposis usually involves: stretching (to increase joint range of motion), physical therapy to work on overall strength and gross motor skills (walking, standing), occupational therapy to work on fine motor skills and self-help skills (grasping, feeding), speech therapy to work on speech and oral motor skills, serial casting (including the Ponseti Method for clubfeet), splinting, bracing (AFO’s, KAFO’s) and orthopedic surgery (osteotomies (bone cuts) to change angle or rotation of a bone, soft tissue releases (releasing and lengthening tight muscles and tendons), muscle/tendon transfers (changes what body part a muscle/ tendon moves) and external fixators (metal frames that are applied over a deformity that is exceptionally rigid/tight and needs to be corrected slowly or to length short bones). And there are other therapies as well: hippo therapy (using horses for therapy), aqua therapy (therapy in a warm water pool) and massage therapy to name a few.

Day 9: Arthrogryposis is considered an orphan condition by the National Organization for Rare Disorders, Inc. (NORD) because it affects less than 200,000 people in the United States. Statistically speaking, The US has 313 million people so about 104,000 people would have arthrogryposis but this doesn’t account for the babies who don’t survive infancy. Rare disorders and conditions are significantly less like to be researched. ARTHROGRYPOSIS AWARENESS DAY 2013

Day 10: 1/3rd of all cases of arthrogryposis are amyoplasia type. Amyoplasia means a lack of muscle development, this means muscles can be completely absent (they just failed to developed during fetal development) and the ones that did develop can be weak or are not of normal size. Amyoplasia is not considered genetic because it doesn’t repeat in families however there is still no known definitive cause to explain why amyoplasia occurs.

Day 11: arthrogryposis can affect just the arms/hands (sometimes referred to as upper extremity only) or just the legs/feet (sometimes referred to as lower extremity only) or it affects all the limbs (sometimes referred to as all extremity). Having all 4 limbs affected is the most common.

Day 12: Many people with arthrogryposis have other co-existing conditions. These other co-existing conditions may be part of their type of AMC. Some of these other co-existing conditions include: cleft lip and/or palate, an airway that is narrow, weak suck/swallow, gastroschisis (intestines on the outside), tethered spinal cord, facial birthmarks (also called stork bites, angel kiss), micrognathia (small or recessed jaw), vision and hearing impairments, plagiocephaly (abnormal head shape) and severe scoliosis (curvature of the spine) can cause lung problems. These other conditions can lead to needing trachs (a tube in the airway that helps with breathing), g-tubes (a feeding tube), hearing aides and cranial remolding orthosis (helmet). ARTHROGRYPOSIS AWARENESS DAY 2013

Day 13: The distal arthrogryposis types are characterized by the joint contractures being isolated or more severe in the distal joints, basically the hands and the feet. Distal means furthest from the core of the body), but other joints can be affected. Hands being clenched and fingers stuck in a fist and clubfeet are very common. Most distal types are genetic but some are not. There are approximately 10 types of Distal arthrogryposis. ARTHROGRYPOSIS AWARENESS DAY 2013

Day 14: lack of movement during fetal development is called Fetal akinesia. The fetal akinesia leads to the arthrogryposis (joint contractures) but there are other signs in a newborn that they didn’t move properly while in the womb. Extra hair or long dark hair can be present in areas that lacked movement. There can also be dimples over joints that didn’t move correctly. ARTHROGRYPOSIS AWARENESS DAY 2013

Day 15: Babies born with arthrogryposis can have a very rough start in life. Many babies with AMC accidentally have their bones broken during delivery or during the neonatal period. The lack of movement can make their bones more brittle (this is not the same as brittle bone disease) and if the position of the contractures are not favorable for delivery (for example if a baby’s hips are externally rotated and knees stuck in flexion) a lot of force may be needed to deliver them, resulting in fractured bones. The thighbones (femurs) and the upper arm bones (humerus) are common bones to be broken. Some babies have their limbs fractured immediately after birth because their medical team doesn’t know how to move them yet. If AMC is detected before birth a c-section may be needed to try to avoid broken bones but even with a c-section it can still happen. Some kids continue to have fractures throughout childhood from accidental falls. ARTHROGRYPOSIS AWARENESS DAY 2013

Day 16: if a baby is diagnosed with arthrogryposis before birth it’s now recommended that the mother take steps to get the baby moving, because the more movement there is, the less rigid the contractures will be. At the 2009 AMC Conference, Dr. Hall (the top geneticist in the study of arthrogryposis) said that mothers should drink caffeine, exercise and take deep breaths often. All of those things will keep the baby moving as much as possible. She also recommended delivering at around 37 weeks if the baby’s lungs are mature so that physical therapy can be started sooner. ARTHROGRYPOSIS AWARENESS DAY 2013

Day 17: With treatment many people with arthrogryposis will walk, while some will need a wheelchair. Regardless of whether they walk or use wheels, it’s all about effective mobility. Those who walk may need braces (AFO’s, KAFO’s or HKAFO’s) or walking aides (walkers or crutches). There are two types of wheelchairs people with AMC may use depending on how they’re affected, manual chairs (which are propelled with the arms) or power chairs (which are propelled by a motor).

Day 18: There is no cure and even fabulous treatment can’t regain normal range of motion and strength in every joint BUT Its AMAZING what people with Arthrogryposis figure out how to do despite “crooked” limbs! People with AMC kind of make range of motion and normal muscle mass look over rated. Think about this….could you make a fruit salad *without* using your hands!? http://www.youtube.com/watch?v=lhrXCt_WoLU ARTHROGRYPOSIS AWARENESS DAY 2013

Day 19: Arthrogryposis can cause height and weight deficits in childhood and subsequently in adulthood. Children with AMC tend to be on the low end of the growth charts for weight (or not on the chart at all). As adults they tend to be 4-8 inches shorter than familial height and weigh 10-20 lbs less than their peers. Obesity should be avoided because it makes it harder to move limbs that are already weaker (taken from page 24 of the AMC Text Atlas) ARTHROGRYPOSIS AWARENESS DAY 2013

Day 20: Lack of movement during fetal life causes the joint contractures in arthrogryposis but another sign that there was lack of movement is lack of creases over the joints. Look at the skin over your joints when they’re straight, there are creases visible, a lot of babies with AMC lack these in the joints their affected in.ARTHROGRYPOSIS AWARENESS DAY 2013

Day 21: Despite the fact that Arthrogryposis is not curable, kids with arthrogryposis grow up to be success and independent adults. Some people will be able to care for themselves unaided, while Some people will need aides to come in and help with some daily tasks. Some professions adults with AMC have chosen include, doctors, lawyers, dentists, engineers, teachers, artists, business owners, professors, chemists, personal trainers, social workers, authors, musicians, journalists and more! ARTHROGRYPOSIS AWARENESS DAY 2013

Day 22: Adults with arthrogryposis are prone to developing osteoarthritis, some earlier in life than their typical peers. It’s not known exactly why arthritis develops in adults with AMC, it’s either because of abnormal joint surfaces (due to the contractures) or its because of the vigorous PT early in life that’s necessary to increase joint mobility. Some adults will need joint replacements to relieve the pain of the arthritis. (adapted from the AMC Text Atlas). ARTHROGRYPOSIS AWARENESS DAY 2013

Day 23: arthrogryposis is not considered progressive; it’s as severe as it’s going to get at birth, and the contractures won’t worsen with time. It is however regressive in nature. This means that even after any type of treatment (even highly effective treatment whether it be surgical or non-surgical) the contractures/ deformity can re-occur. So a foot can go back into a clubbed position, a knee can get stuck in a flexed position again, a wrist can stop going to neutral again ect, this is also called relapse. Post-treatment bracing (like after casting or surgery) is very important to try to prevent relapse but even strict brace wear doesn’t stop all relapses. Once a person stops growing the contractures are less likely to re- occur. ARTHROGRYPOSIS AWARENESS DAY 2013

Day 24: Most kids and adults who have a diagnosis of arthrogryposis are cognitively typical, meaning their IQ scores are normal or above normal. Some people with AMC will have some level of cognitive impairment that does affects their IQ score.ARTHROGRYPOSIS AWARENESS DAY 2013

Day 25: amyoplasia, one of the most common types of Arthrogryposis, can occur in identical twins but only 1 baby is affected and one is typical. This is one of the reasons that amyoplasia is not considered genetic. AMC can happen in just 1 twin of a fraternal set and AMC can happen in both twins if the AMC is genetic in nature.ARTHROGRYPOSIS AWARENESS DAY 2013

Day 26: arthrogryposis is not a newly identified condition. Adolph Otto officially described it in 1841. There is also evidence of it in literature as early as the 12th century (perhaps earlier) and it’s likely that the beggar in the 1642 painting, “the clubfoot”, (which hangs in the Louvre) has some form of AMC (the text atlas says amyoplasia, another article says distal). ARTHROGRYPOSIS AWARENESS DAY 2013

Day 27: arthrogryposis is not a widely studied condition but Dr. Judith Hall, a clinical geneticist, has been studying AMC for 40 years and has advanced the medical community’s understanding of joint contractures in a newborn. In her talk at the 2012 AMC conference she reiterated that arthrogryposis is a symptom of an underlying condition/ syndrome. Her dedication to the AMC community is astonishing. She stayed at conference for 2.5 days and met with families all day long, giving them answers no one else could. As a community we are forever indebted to her for the advancements in understanding the causes of AMC.http://en.wikipedia.org/wiki/Judith_Goslin_Hall ARTHROGRYPOSIS AWARENESS DAY 2013

Day 28: Dr. Hall said at conference that it used to be believed that all cases of lower extremity only arthrogryposis were amyoplasia type but that now its known that a whole list (she showed the list) of conditions and syndromes can cause contractures in the legs only ARTHROGRYPOSIS AWARENESS DAY 2013

Day 29: According to Dr. Fisher from OrthoIndy (who spoke at conference) there is very, very little information in the medical literature on joint replacements in adults with AMC and degenerative arthritis. Dr. Fishers experiences in replacing joints affected by AMC in 2 of his patients have been positive and he is publishing an article soon about one of his patients! Like with all things AMC related, there needs to be more research on aging with joint contractures! ARTHROGRYPOSIS AWARENESS DAY 2013