AMC Awareness

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. 

 

 

Advertisements

945 days

Since my son was born we have been at the mercy of others.

Losing my independence was one of the hardest parts of becoming a mom. It’s enough to make me in no rush to have more kids. I know everyone loses freedom when our children are born but for me it was different.

I couldn’t go to a single place alone with him. No quick runs to Target to get out of the house. Not even a simple walk around the block on a sunny day. If he had a doctor appointment both me and my husband had to take off work.

When we were alone, we stayed in the house where I could keep him safe.

As an infant, I couldn’t carry him or the heavy carseat. As he grew older I couldn’t carry him and struggled with the buttons to open the straps on his booster carseat.

He is now more self sufficient but I still worry about him in parking lots and crowds. He’s only 2 1/2 and his ability to follow instructions waivers.

Lately he has started climbing in his seat by himself. I have also become an expert at getting him to cooperate with me – making simple tasks seem fun.

I thought this Father’s Day would be a good time to try out our first taste of independence.

Following our family traditions, my husband left at the crack of dawn to golf with his dad. Me and Oliver stayed home and ate breakfast, watched cartoons and got ready to go visit my dad for awhile.

The moment had arrived.

Our things were packed, the car was loaded and I yelled to Oliver, let’s go visit grandma and grandpa.

He let out a whoop and raced to the door. I held it open and he followed me to the car. I opened the car door and he climbed in. I buckled him up and grinned.

The past two years we all started our Father’s Day hours before things started and left the house insanely early when my husband left for golfing – I had no choice because I needed help getting him in the car.

It felt so good. We could follow our own schedule for the first time.

As we backed out of the driveway I smiled at Oliver and said, we did it buddy, just you and me. I let out a celebratory YIPPEEEE and he echoed back at me.

After 945 days of always needing others, this was a moment I’ll never forget.

nobody puts baby in the corner

Having a disability sometimes forces you to the sidelines.  It stinks. Especially if you are like me and want to be part of the action.  

4 Things I Would Love to Do
(Yeah, yeah…these are the things that crossed my mind at this very second, I’m sure I could actually think of 4,000)

Standing on Risers
I was in choir in High School and my first year of college. When we had concerts our group stood on U-shaped risers. As you can imagine, standing on risers with crutches is tricky. I was always stuck on the floor.  Luckily, I’m short so my placement made sense – I was not a giant on the floor surrounded by 5’2 pixies. Regardless, having the chance to stand on a different row always looked fun. 

Climbing Bleachers
Bleachers stink. Throughout Middle School and High School, I hated sporting events because I couldn’t climb the bleachers. I felt bad making my friends sit on the bottom row. Also, if the bottom row was full, there were not a lot of options for me. Watching people step from row-to-row and work their way up is facinating to me.  Kinda weird, I know. 

Squatting
I think it would be so amazing to squat down and stand back up. You could pick stuff up or reach things on the ground with such ease. I can squat when I’m not using my crutches but then I need to hold on to something to help me back up…kinda like I’m an old geezer {wink}. I love it when people squat. It just looks fun and is a total gift. I dare you to squat today and know you are AWESOME.

Jungle Gyms
Playgrounds are always unpredictable. Walking in sand and wood chips on crutches isn’t fun. Sloped rubber mats with sand is slick and requires focus while able-bodied kids whiz by.  Beyond the slippery aspect, anything sloped and combined with crutches is an armpit assault. 

I’d like to run, jump, climb and be able to keep up with my son. I really want to do the monkey bars and hang upside by my legs!

Parents with disabilities must find themselves standing below while the kids run around. My son will smile down at me and yell for me to come up. I often leave my crutches down below and make my way to the top. However, the moment I get up it seems my son has jumped back down. So it’s an exhausting game and to top it off, I’m always afraid other kids might move my crutches on me. It’s a little risky.

Ed Haydin, Architect & Hart Park VisionaryWhen my neighbor and local architect mentioned that he was working on a new park for the city that he thought I would love, I was super excited. 

Hart Park recently opened and I was blown away.  It still  offers the opportunity for wild children to climb and make their way up the jungle gym but there is also a ramp that weaves its way to the top. The way it is added flows with the structure perfectly. It doesn’t look like an adaptive addition.

The playground features a devoted sandbox area off to the side and the rest of the terrain is a soft and rubbery textured mat. It’s flat and super nice to walk on. There are no steps, ledges or barriers that could keep a disabled child or disabled parent away from the action.

Damian Buchman, TAC FounderEven if I can’t do everything, I like to be in the middle of things and soaking up the experience. This new park makes it possible.

My friend Damian Buchman (bone cancer survivor and founder of The Ability Center) recently shared the quote below about our new park on his site.  I have to admit it feels good to know there are other adults who think like me and appreciate little gifts such as this park around the city. I’m not alone.

Though I am not permanently in a wheelchair, I do use one so I can go on walks with my wife and son. As I get older my limb salvages are getting weaker and more painful — this is one of the possible effects I knew I would face later in life, one of the many reasons why I’m so dedicated to access and universal design. And, as a new father with a disABILITY, I have seen a new light. While it is absolutely fantastic that this playground is accessible for kids with disABILITIES, as a father who loves to “play,” it is equally important for parents with disABILITIES.