New diagnosis

August 2nd, 2013

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my hubby and my baby

I haven’t wanted to sit down and open up on the blog lately. I have my fingers in too many pies, and a lot of my work is done online so when I have a minute to myself I don’t exactly want to bang out more copy at a computer. I’ll just make this brief, or as brief as I’m capable of. Last Friday Roland had a great day. He went to preschool. He wrestled with his sister. He got into the tickle fight to end all tickle fights that ended with all of us on the ground gasping for air. He threw some blocks and crashed his walker into everything. He grinned and laughed and spun in circles. Then it was dinner time. And he didn’t want any. Then he threw up. He’s thrown up before without incidence so we waited it out with a cup of apple juice. But he threw up everything that touched his lips until he cried. I put some glucose gel into his mouth and rubbed it into his gums when he wouldn’t swallow it, but it was too late. An hour after the first gag he was seizing. And we ran out the door to the ER.

We were in the hospital from Friday night until Sunday night. It’s thrown off our whole week. (Sorry for the 200 emails I’m ignoring and the two orphan care blogs for Aug 1st that posted on Aug 2nd.) The ER is only three and a half minutes down the road and he was rushed in and given some glucose after they recorded his blood sugar at a 14. (The lowest it should have been was in the high 70s!) The doctor said this level was low enough to cause brain damage and wondered aloud why the hell our insurance had not covered the life-saving glucagon gun the last time he did this?!

[For our new readers, about 8 months ago at the tail end of December Rolly had a similar seizure fit and a ridiculous blood sugar score of 19. I blogged about it here. The doctors guessed since it was an isolated incident and probably wouldn’t repeat after he was getting good nutrition. We chalked it up to a lack of “reserves” from poor nutrition and orphanage life in general. Our insurance even refused to cover the glucagon gun making it almost $500 out of pocket and outside our budget. So we watched him like a hawk for three months and then shrugged it off.]

Now that he’s had his second episode, despite excellent nutrition for almost a year, it’s clear our son has an unknown metabolic disorder and a temporary (until we can figure out more) diagnosis of “seizures due to low blood sugar.” It’s like he’s hypoglycemic, but just sometimes. And both times his crashing has had a clear progression of lack of appetite, fasting, lethargy, vomiting and then, after lots of vomiting, seizures. And even though this process takes a couple hours, that’s still really fast! Thankfully after this second life-threatening episode our insurance finally covered (in full) the glucogon gun. Two of them actually. And a new monitor.

Rady Children’s hospital is excellent when it comes to parent training. We were re-trained on our glucose monitor that has been doing nothing but collecting dust for eight months. And I used the glucogon gun on my son to test if it worked while he was still in the hospital. It worked great, but dang. The needle is the size of the inkwell in a pen… just really big. Roland was pretty mad at me after that.

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yeah I hadn’t given him the shot yet

Then I took his blood every 15 minutes after that for an hour. Yeah. *Me.* The girl who passes out watching other people give blood and has passed out twice from giving blood herself was taught to take blood and test the sugar content. And I can do needles now. I didn’t even pass out a little bit!

I even practiced shooting Mr. Bear full of insulin. Roland looked so protective of Mr. Bear after that.

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(check out the countries represented)

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Laelia cried the whole first night, refused to sleep without Roland there (they share a room) and said in a pathetic voice, “He’s gotta be okay. He’s my best brother in the world.”

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Best brother got an IV in each arm. One to take blood and one to give sugar.

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Then best brother tried to pull out both IVs like a million times until they were forced to put arm immobilizers on him.

So we’re home now. We’re doing okay. Roland is his old self again. We’re just all in a daze figuring out our new normal.

And we have appreciated all your prayers so much. And those of you who just wrote to ask how we were doing and say you were thinking of us, and those who offered meals or help, or those who visited… it just meant the world. It was very sustaining and I know I never thank people enough in the moment. I just suck every last drop of love or energy or help they’re offering and then a week later when our heads are above water I stop and think, “Wow that was amazing and they meant so much to us. I hope they know that!” So thank you! You’re appreciated. I hope you know that.

Alright I’m tired and the kids need a bedtime story so I’ll wrap this up.

Right now our three biggest issues are:

1). Getting an appointment with the metabolic doctor. I’ve called and finally I was told a WEEK after our hospitalization that the doctors would “talk about it” and give me a call “in a week.” I verified they actually meant I had to just wait around for 7 days and couldn’t make an appointment in the meantime. Yes that’s exactly what they meant. But, hey, maybe they can get us in next month! Yay? :-/

2). We’re new to this and right now we’re constantly worrying about what he’s eating, how much he’s eating and how often he’s eating. It’s stressful. Like right now he won’t eat dinner and that won’t fly these days! And peanut butter on whole grain bread is served for like every meal. So eventually we’ll figure this out, but right now it’s stressful.

And 3). Roland’s new diagnosis disqualifies him for Head Start. (Where he would go next year for preschool after aging out of Early Head Start.) We were counting on that. And I doubt anyone else will take him either.

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Change

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

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!

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. ;)

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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.)

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Click to enlarge.

I hate unpacking.

 

June 30th is arthrogryposis awareness day!

June 29th, 2013

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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

The best gift to an adopting family: baby pictures

June 24th, 2013

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Roland’s only baby picture

By the time Laelia was 2 years old we had exactly 247 billion pictures of her. It’s weird to have so many baby pictures of one child and only one single baby picture of your other child. But today my friend Carissa found not only nine pictures of our son, but a video!!! He looks to be probably 1 year old. We literally just saw these for the first time today! We’ve watched the video over and over. My husband got really emotional too. (And it’s pretty hokey.) We joke that of course it’s in slow motion because our son does NOT sit still long  enough for a calm video. ;) First, here are the pictures. (That suit!!! Little teefies in his mouth! That pout! He’s so little!!!)

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And little Yehorchyk’s video (the cooing slays me!!!):


 

Here’s him now with his new stretching elbow splint (and tennis ball added by Uncle Phong so Rolly wouldn’t damage more furniture):

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I’m all grow’d up now.

 

In other news our friends, the Ashes, are adopting a little girl with special needs from China!

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These are friends we knew before either one of us were in the adoption process or even talking publicly about it. You remember Elliot from the blog post before last? She’s the one walking for the first time. Well she’s getting a sister! Go here to learn more and maybe even donate a little something. Laelia has already said she will be donating her tooth fairy money as soon as her tooth comes out. :)

Speaking of teeth I took both kids to the dentist today. Both had great teeth! Roland was not happy getting his teeth cleaned… it took three adults to do it. He also just about destroyed the entire office before that with a rampage of happy screaming and touching stuff and throwing things while Laelia was being seen. Laelia, who has previously been terrified of the dentist, behaved perfectly. She followed all instructions even when she was so scared she was shaking. (She was only scared of the suction devise though.) Afterwards she showed off her princess teeth. And Laelia has her first permanent tooth growing in behind her first wiggly tooth! I was informed that the tooth fairy’s new rates are $1.25, a national average. (Laelia thinks that’s like a million monies.) She’s wiggling it daily so she can donate her monies to Elliot’s sister’s adoption.


Here are both kids posing with their new Congo shirts, helping another friend get adopted. (This friend is in the same orphanage as my nephew/the kids’ cousin.) Notice Laelia’s new haircut that she picked out herself. Every time the lady cut her bangs Laelia would demand, “Shorter. No more hair in my face… I use my face for everything.” ;)

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Now that we’re back from the three hours at the dentist I’m going to go lie down for ten years. Excuse me. ;)

 

 

 

When Hollywood does good

June 20th, 2013

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James Gandolfini (picture taken from Getty images)

I know this blog is about my kids and their amazing lives, so it may seem strange that I feel compelled to write a brief memorial to James Gandolfini. But little do people realize the connection between this man and rescuing our son from a third world orphanage.

This is just a (long) story of someone doing something good in life, and that goodness, like a waterfall, trickling down and touching others who will never meet him. We just learned yesterday of Mr. Gandolfini’s death by heart attack at the age of 51 while on vacation. It was emotional to read. My son never met Mr. Gandolfini and neither have I, but our family, and extended family, owe him.

Mr. Gandolfini did something good with his talent and position that indirectly helped us adopt our son: He produced a documentary called War Torn: 1861-2010 which featured my cousin Nathan.

When filling out applications for home studies–the first step in the adoption process–social workers mail you a bunch of application forms to fill out (and charge you a lot for doing so) and then consider to take on your home study based on the answers. One question is if anyone in your family has a felony. Yes, my cousin Nathan. Are they in prison? Yes.

And from what I’ve read and learned elsewhere this is where our adoption process may have ended. Anyone just paying attention to the cold hard facts would know that a close family member, someone I grew up with, from a side of the family I’m close with, is in prison for a violent crime.

So I was angry. Angry at my cousin, our system, our military and my own neighborhood for giving out free drinks to the returning hero that night. My impaired cousin, suffering from PTSD after two tours in Iraq, started bossing around, then put a firearm to, an Iranian cab driver here in San Diego. You see Nate had starting having a bad alcohol-induced flashback where he thought he was in Iraq, and sad as it is, this was part of his job in Iraq, to detain suspicious drivers. The Iranian cab driver (the only description I know him as) did not get why this guy was ordering him around and did not know what was going on. It’s like two different movies were playing at the same time: One where an innocent man was being threatened by a crazy person (the true story), and the other where a soldier put in charge of detaining suspected bomb carriers (my cousin had driven over a bomb once, had three friends killed in action and this threat was real to him) had to pull a firearm on a suspicious man (my cousin’s head’s story). The cab driver acted appropriately, called the cops and, although it was terribly scary, no one was hurt. Nathan was taken into custody crying and confused.

And Nathan got six years in prison (a plea bargain) after being threatened with 15. (But he’s due to be released early. We’ve been told March 2014.) No look into his history. No care of his medical condition or time in Iraq. No consideration for it being a first offense. No treatment plan. Nothing. Just a DA up for re-election, a situation with a firearm (which adds 10 years to any sentence here in CA) and an open and shut case. (At the time there was no Veterans Court in San Diego, but I’ve been told there is now.)

A camera crew (sent out by Mr. Gandolfini) showed up to film Nathan after he was sentenced, but before he was scheduled to show up for prison. They were doing a documentary on “Shell Shock” which we now know as PTSD. While us Wesleys were cut from the documentary, my cousin Charilyn, Nathan, Josh and my aunt Charlotte all got to share Nathan’s story. And we got to know our cameraman, Matthew O’Neill, who we forgot was even filming because he was just so personable. (And he let my daughter play with his really really really expensive camera because it made her giggle. We liked him.)

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Laelia (on the drive home): “Where Nate?” Me: “He had to go bye-bye.” Lali: “Bye-bye Nate.”

Two minutes later. “Where Nate?” (She thinks about it.) “Nate bye-bye.” (Feb 26th, 2010)

And that’s why the social worker asked, “You have a cousin in prison, but he’s featured in an HBO show? I think I saw that. Can you explain what happened?” They learned that the violent crime was just because of the presence of a firearm and not because anyone was hurt. They learned it was a very specific set of events that are not likely repeatable. They learned about Nate, the real person, not the criminal justice statistic. And my family (and extended family) after background checks and questions and lots of fact-checking were approved as a suitable and wonderful family for an orphaned child. Our son came home eight months later.

James Gandolfini did a documentary on PTSD that shook up the way we treat and view people suffering from it.

And that had a trickle down effect.

This film was shown to military personnel where they discussed it at length.

Things started changing.

Nathan’s mom became an advocate for returning soldiers and their families working through Blue Star Moms which began here in California.

Soldiers who were once told, “Don’t say you have any nightmares or any problems, or you’ll be delayed even further [from getting home],” and came away with the belief that “If the Marine Corps wanted me to have PTSD, it would have issued it to me in boot camp,” are now getting the resources, education and support they need. Or at least it’s getting better all the time.

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I’m cuddling my son this morning. He has a yogurt mouth, a pencil in one hand and is singing two letters of the alphabet very loudly (making cleaning the yogurt off his mouth nearly impossible). It’s scary to think that not too long ago we may have been unfit to adopt because of the ignorance surrounding PTSD. And I’m left here thinking of the hundreds of people, from financial supporters, encouraging/praying friends, government officials, USCIS personnel, Reece’s Rainbow staff and a million notaries who helped bring our son home. And in that list, strangely, is one Hollywood actor turned producer.

In memorial of Mr. Gandolfini. You never know how one good thing can really make a difference.

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AN UPDATE: I want to say that this is a very messy story. It’s not clear-cut, clean or nice. There are no “good guys” or “bad guys” but a lot of human people, even human court people. The law is set up as black and white and as unfair as it sounds to us, there is a real victim who got a bad scare that night and it probably left him shaken for a while. Choosing to drink to excess, whether to drown out a condition as bad as PTSD or for any other reason, is wrong. I hope there’s nothing political about this story. It’s just a true story about a good thing Mr. Gandolfini did to help soldiers and their families, which also helped us adopt our son.

Videos!

June 18th, 2013

Here’s Roland standing up by himself (using the wall) for the first time ever!!!

Here’s Roland riding a bike for the first time ever!!!

I usually get to sleep in on Saturday. This was my wake up song. (Roland only knows two letters: B and Y.)

Which quickly de-evolved into this. My kids are insane.

A bunch of pictures.

June 18th, 2013

So here’s a bunch of random pictures. We won a kid’s digital camera in an adoption auction. It’s Laelia’s new favoritest thing ever. Here are four shots taken by Laelia.

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Daddy. I love the angle.

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Mommy who doesn’t know she’s getting her picture taken.

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Roland is grumpy he can’t play with the kid camera.

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And a self portrait showing off Laelia’s first ever wiggly tooth! (Bottom middle.) :)

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Here’s a picture of Laelia’s x-rays. Notice the length difference?

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Right leg… pins almost ready to come out!

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Left leg pins. She’s only a few degrees from perfectly straight!

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Picnic at the park.

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Roland can’t climb the hill so he’s calling for Daddy help.

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Both kids climbing to the top!

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Laelia can now remove her shirt!

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She lifts it over her head…

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Then she flips over.

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Then she looks up until the shirt falls off!

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Roland was practicing standing with his braces unlocked. He didn’t like it.

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Roland’s school happened to have a picture of Laelia up on the wall from three years ago! She was a favorite so they put her picture up. We got a good laugh when we realized that it looks like these are the kids guilty of bringing the weapons and drugs to school. The offender list. ;)

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Daddy helping the kids inside the house.

Laelia climbs down by herself!

June 2nd, 2013

Tonight as I left Laelia to brush her teeth and wash her face (and then prayed she wouldn’t just goof off the whole time as usual) I sat down exhausted and caught up on some email. Roland came toddling in and said to me, “Lay lee la down.” He looked back towards the bathroom and then looked at me expectantly. “Yes Laelia is brushing her teeth and I’ll put you both down for bed soon,” I said absently. He said, “Kay,” and walked away. A second later he came back, “Ba da da! Na down!” He really is trying to communicate something, and usually I would get up and take his hand and he’d walk me somewhere and show me what he wants, but it’s the end of the night and I’m tired so I just say, “Okay Roland wait a minute,” and go back to reading. A third time Roland says urgently, “Down Mama! Down da Mama! Layla!” I am only catching the “down” part clearly so I ask him if he wants to sit down and he says no. I ask him if he wants his doggy to come down off the piano where hubby had placed it. Roland says no and then thinks about it and in a cute little voice says, “Ummmmmmmm. Da.” (Da=Russian for yes) Okay then, “I’ll get your doggy down before bed, but let me finish these first.”

A second later Laelia says with a big grin, “Hi Mama!” And my mouth says, “Where did you come from?!!” Before my brain realizes that all those Roland warnings were about Laelia attempting to get down from a very tall chair all by herself and unsupervised.

Now don’t get me wrong, we had been practicing this. But she had never shown an interest in trying it without a lot of motherly hovering.

Plus this had happened the night before so it’s not like I had a lot of confidence. ;)

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I don’t know if she is really stuck or if she just wanted some attention. :)

So getting off a chair without bending your knees is a very hard thing to do. (Remember Laelia has a bit longer in the straight leg braces that do not bend before her plates come out and she can bend her knees again.) And how she does it is totally impressive! She grabbed her daddy and me to show us exactly what she did. This video is the second time she’s ever done it independently.