For my first 7 years of life, I grew up with another AMCer in my town. After my family moved away, she remained the only person I ever knew that shared my disability. I went to a “normal” school with “normal” friends and for the most part thought of myself as one of them.
After starting my blog last July and connecting with AMCers across the world through social media, I learned so much more about myself and arthrogryposis.
For the past few years they have held an annual AMC convention. I really wanted to attend this year but a long car ride with a toddler is miserable and leaving my husband home alone to juggle work, our son and day-to-day chores just didn’t feel fair.
In spirit of AMC awareness day coming soon on June 30th {wear blue and show your support, yo!} and the upcoming conference, I wanted to pass on some interesting facts on AMC (thanks again Tracey Schalk for sharing them) and a slide show capturing a few great faces of AMC (thank you Margaret Chaidez, they are priceless).
Did you know…?
1. Arthrogryposis is defined as multiple congenital (from birth) joint contracture or multiple joints that are stuck in 1 position and have very little flexibility. A newborn has to have 3 contracted joints in two different body areas to have a diagnosis of Arthrogryposis.
2. 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.
3. All types of Arthrogryposis occur 1 in 3,000 live births. Each type is than more rare from there. My type of arthrogryposis, 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 babys don’t make it for unknown reasons. http://www.amcsupport.org/inmemoriam.html
4. 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), its because 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.
5. 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.
6. 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). ADLs are those things you do every day to take care of yourself (eating, dressing etc).
7. 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.
8. 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.
9. 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.
10. 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.
11. 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)
12. 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 thigh bones (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.
13. 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.
14. With treatment many people with arthrogryposis will walk, while some will need a wheelchair. Regardless of whether they walk or use wheels, its 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 their affected, manual chairs (which are propelled with the arms) or power chairs (which are propelled by a motor).
15. 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! We 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
16. 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)
17. 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.
18. Adults with arthrogryposis are prone to developing osteoarthritis, some earlier in life than their typical peers. Its not known exactly why arthritis develops in adults with AMC, its either because of abnormal joint surfaces (due to the contractures) or its because of the vigorous PT early in life thats necessary to increase joint mobility. Some adults will need joint replacements to relieve the pain of the arthritis.
19. Arthrogryposis is not considered progressive, it’s as severe as it’s going to get at birth, 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.
20. 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.
My leg is not broken... 