Tuesday, June 11, 2013

Toby's Diagnosis of Arthryogryposis Multiplex Congenita

We knew when first fell in love with Toby that he had AMC or Arthrogyposis Multiplex Congenita.

We did the research and decided that YES we would take this on.

What is AMC?

I'm glad you asked. Especially because this month (June) is AMC awareness month!

From the May 2013 AMC Picnic in Ohio. Pictured are all the individuals affected with AMC. (plus me b/c Toby wouldn't stand with strangers!)
Arthro means "joint"

Gryposis means "crooked"

Multiplex means it occurs in different joints anywhere in the body and is unique to each individual

Congenita means present at birth.

Whew! What does that look like in real life?

Well, it looks VERY different for different people.

Sometimes all joints are affected. This means that the child/adult is completely wheelchair bound and must control it by their chin.

Sometimes it only affects their lower extremities. Club feet are common and scoliosis can occur. If the lowers are affected, it usually means years of therapies, casting, and surgeries to get to a level of mobility.

This mobility is different for each person. Some are able to walk with a limp, an irregular gait or even a hunch. Some use walkers. Some are able to walk smoothly.

Some people are affected only in the uppers. This is how our Toby is affected. It was such a shock to us when we learned last summer from his orphanage that he could walk! (We actually didn't believe it at first!)

We had an amazing time meeting other families affected by AMC at the big "meet up" held in our very own beloved hometown of Westerville, Ohio.

A sweet friend, Jenny, adopted from South Korea as a child because of her AMC. She now can walk but also uses a wheelchair. She is SUCH a sweetheart! Working on her PhD!!

My dear friend Jackie with adopted son, Gideon. Jackie shared with me all about AMC and what it would mean for me as a parent if we said YES to Toby's adoption. Gideon is affected in both the uppers and lowers.

I snagged this photo op with the well known Tracey Schalk--a key spokeswoman for AMC. She is uber sweet!!!
Tracey lives alone and drives a car.  She is affected in nearly every joint. She can do ANYTHING!

Having this incredible network of AMC'ers has been awesome. I learned early on that we need to be going out to the Shriner's Hospital for Children to see Dr.s van Bosse and Zlotolow who are the nation's best in AMC treatment.

Toby and I did that just last week.
My traveling companion. He's pretty cute, huh?
 We traveled on two planes to reach Philadelphia. We used Miracle Flights for Kids that helps children with medical needs get to their necessary hospitals. They were great!!!

Once we reached Philly, we had an amazing picnic with fellow adoptive families in the Philly area. It was SUCH a blessing! I learned a lot about Russian adoption and met some fabulous new friends!

One incredible meeting was face to face with Kelly who advocated for Toby on her blog. It was a really emotionally beautiful thing to introduce this precious orphan to her...we both got teary!
You are right, we aren't looking very teary here. We had moved on to laughing! :)

The next day, it was time to go to Shriner's.

AMAZING place.

Those men with their caps...I never paid much attention to them all my life.

Now, I am SO THANKFUL for what they have been doing.

Did you know that after your insurance, Shriner's pays EVERYTHING?  They work hard so that there is no extra financial hardship on the families.

Waiting in our room to have different doctors come and visit Toby.  p.s. He does ALOT with his feet that he cannot do with his hands! ;)
 We were treated so lovingly and saw doctor after doctor and went for some pretty crazy and creatively shot X-rays! They sure know how to work with children!

Amazingly, we were done by noon!!
They sent in the clowns! Shriner's are known for their great clowns!
Playing at the train table with friends.
Look who showed up in Philly too! Our buddy Gideon from Kentucky! AWESOME!!

The diagnosis Toby received from Dr. van Bosse was that his type of AMC is Amyoplasia. This type is fairly common among AMCers and is non genetic. It is thought that it is due to a lack of oxygen in the spine during the first 11 weeks of pregnancy.

Shockingly, 90-95% of the amyoplasia type of AMCers are affected in the lowers. 

Toby is in the 5-10% who only are affected in the uppers.

Another moment where I was just amazed.

When Dr. Zlotolow (upper specialist) came in and saw Toby, he remarked in awe, "This is the 3rd patient I've seen now only affected in the uppers but missing toes on a foot. I HAVE to think there is a connection."

Wow. There is still much the medical community does not know about AMC.

We learned that Toby is missing some muscles and other muscles are very atrophied. Due to lack of fetal movement in the womb, these joints "freeze" or contract. He has internally rotated shoulders, locked elbows with about a 30 degree range in one arm and both wrists contracted and adducted thumbs and the tendons in 6 of his fingers are so tight that they cannot be straightened.

Dr. Z determined that to begin help Toby become independent, he needs to have surgery to enhance his favored arm. He will have what is called a rotational osteotomy on his upper arm as well as an elbow release. He wants to have it done before he turns 3.

That means now.

The goal will be to get his hand to his mouth so he will be able to feed himself.

We are scheduled for July 1st.

I ask that you be in prayer for Toby as he faces a multi-faceted surgery on that date. Pray for me to as he was not the easiest little guy with whom to travel!


  1. Praying Amy! Thanks for posting your process. I loved seeing it through your photos. We are heading to Portland Shriners with our new son once he is home. If necessary they'll send us on to Philly.

  2. Hi Amy,
    We came home in Nov. with a little fellow (Gabriel) with AMC in the upper extremities and club feet. So far we have stayed locally but now I am wondering if we should look at Shriners. WE are also wondering if there is more going on with his feet. He cannot lift his toes up (no dorsal flexion). What would you suggest? You can ePM if you would like jhrisleyatgmaildotcom. Thanks so much!
    Sarah Risley

  3. Oh, I have yet to write my post about our meeting! I'm going to, I'm going to! It was just such an amazing experience for me to meet you and Toby both, and I can't wait to wine and dine you when you come into town again for his surgery!

  4. Kelly, I'll never stop loving you. Never!! :) :) :)

  5. We will be praying for you and Toby through this process. So thankful for great medical care and for the financial help from the Shriners and your diligence in advocating for him. Love you, sweet friend!!

  6. What a great post Amy. It's got a lot of good information. I still can't believe we both have treasures with AMC - one day we *have* to meet. xo


Related Posts Plugin for WordPress, Blogger...