Archive for July, 2013

Change

Thursday, July 11th, 2013

If you have read the post below you know we are trying to make the term “Hall’s contractures” refer to arthrogryposis multiplex congenita.

“Hi, my kids have arthrogryposis multiplex congenita… you know, Hall’s contractures! Google it!”

And it’s so much easier to Google than “AMC” which gives you movie theatres, or arthro…gry…posopsos… that word.

(Actually now if you Google “Hall’s contractures” the first few links teach you all about my kids’ condition! Awesome!)

I don’t want to lose our arthrogryposis identity or change the name of our wonderful Arthrogryposis Multiplex Congenita Support Incorporated group that I adore. We’re NOT swapping out one name for the other. What we’re doing is adding a colloquial term for a long medical diagnosis. (You know, how we call solanum tuberosum… a potato.)

We’ve started a petition on Change.org to do just that! We’re asking that American Medical Association, World Health Organization, Shriners Hospitals for Children, Children’s Hospitals and all major hospitals consider adding “Hall’s contractures” to the literature they distribute in print or on the web on arthrogryposis multiplex congenita. (For example: “Hall’s contractures or arthrogryposis multiplex congenita refers to a condition of the joints…” OR “Arthrogryposis, also known as Hall’s contractures, is cool beans…”)

Hall’s contractures has already been added to the arthrogryposis wikipedia page.

That’s it!

Please go here to sign your name to our petition and read more about the cause.  Pretty please do this for me. Please share this petition far and wide to anyone and everyone you know affected by AMC or NOT affected at all!

It may seem like such a weird or small thing to do, but you’d be amazed how much recognizing, pronouncing and remembering a diagnosis can make us feel less alone in the world and less strange. Sorry but arthrogryposis sounds like the plague and “Hall’s contractures” sounds like a simple physical condition. Plus both my kids had the straight arms (extension contractures) and referring to it as arthrogryposis (which literally means crooked) was so confusing and misleading. Calling it Hall’s contractures makes more sense! And I’m hoping this can get us more awareness and possible future funding for research!

Last year when we were on the news, the reporter mispronounced arthrogryposis. I have dear friends and family members who cannot pronounce it either. They love my kids, but they don’t know what they have. When fundraising for our adoption we had people say, “Can I just say you’re adopting a guy with a big long disability?” Why in the world would any celebrities or organizations want to fund research for us?! They can’t say the word!

Hall’s contractures. Sign the petition. Even if you think it’s dumb or won’t do any good. I’ll take the blame if this fails. Let’s just try something. Please.

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.