Tuesday, March 18, 2014

What is arthrogryposis?

A lot of you have inquired about Amelia's condition and so I have been promising to deliver..  Also, an update on how she's doing.  

As many of you know, Amelia has arthrogryposis, which I also mentioned in an earlier posting.  The Wikipedia defines arthrogryposis as...

"Arthrogryposis multiplex congenita (AMC), or simply arthrogryposis, describes congenital joint contractures in two or more areas of the body. It derives its name from Greek, literally meaning "curving of joints" (arthron, "joint"; grȳpōsis, late Latin form of late Greek grūpōsis, "hooking").[1] Children born with one or more joint contractures have abnormal fibrosis of the muscle tissue causing muscle shortening, and therefore are unable to do passive extension and flexion in the affected joint or joints.  Arthrogryposis is a not a diagnosis but a clinical finding. So this disease is often accompanied with other syndromes or diseases." (http://en.wikipedia.org/wiki/Arthrogryposis)

Amelia has distal arthrogryposis which means she has multiple contractures of her distal joints; her hands, knees and feet.  Her hands are clenched; sometimes they're really tight, meaning it's very difficult, if at all, to get one of my fingers in her grip.  Then sometimes they're a little more loose and I can slide my thumb in there for her to grab onto.  Her knees are bent at about a 100 degree angle.  And, then of course her feet; a severe atypical case of club feet.  It's hard for Amelia's doctors to tell us how long and what kind of treatment Amelia will continue to require because each step depends on how she responds to the different treatments.  However, they can tell us that there will be some form of treatment of the affected joints until she's done growing (or longer) because if you don't keep up with it, the joints will contract back into their original position.  Just out of curiosity, I looked up the average age a girl stops growing which is 18 years old.  We have fallen into a routine now of weekly (sometimes more) visits to the doctor and are starting to realize and accept that Amelia will require treatment for a long time.  

Tomorrow, Amelia will get cast #9 put on.  This last cast was on 2 weeks following her tenotomy and will be changed tomorrow.  Dr. K said the number of casts following this one will be determined on, again, how she responded to the surgery and casting this time around.  However, for future reference he did tell us that following this casting, she will be in braces around the clock and also start physical therapy on her knees.  Once they get a feel for what they can achieve with therapy, they will then do casting of her knees.

Her hands...  We are scheduled to follow up with Amelia's hand surgeon next week.  We met with him shortly after she was born.  He believes she will respond well to treatment, however he did confirm that because Amelia's hands will never fully open like ours, she will just function different than us, but she'll still be able to use them...that was good to hear.  So, in making sure that's the case, he said at this point, he does not suggest we get very aggressive with therapy and splinting.  He said splinting and exercises are fine, but whomever is doing it, has to really know what they're doing.  Relaying this to Amelia's therapist and then fine tuning her treatment was a little bit of a bump in the road, but I think we're on the right path now with a therapist who has specifically worked with arthrogryposis.  This was an answer to prayer!  Right now, we have to do 2 different stretches with Amelia at least a couple times a day, more if possible.  She also has splints now for both hands.  We got one fitted last week and since she was not happy about it, we had to get the other one done yesterday.  These splints are for "resting" only, because while she sleeps (or rests), that is when her hands are more loose so we're able to get the most stretch out of them.  The resting is difficult because Amelia doesn't really like to sleep for us during the day, so hopefully the nights will be enough.

Tried to sneak them on while she was falling asleep...without success  :)

On Thursday, we have an appointment with Amelia's cardiologist.  At 2 weeks old, he saw Amelia for a follow up from a diagnosis in the hospital of PDA (Patent Ductus Arteriosus).  At that time, he saw some dilated vessels in the heart that concerned him.  So, this appointment is important to us.  We hope to get some clarification on her condition and hopefully those vessels are measuring back to a normal size.  However, at her recent 2 month check up with her pediatrician, he still heard a heart murmur, which lessens that possibility.  But, we know that if this is God's will, anything is possible, so we hold onto that hope and if the news isn't what we want to hear, we will still trust Him.  

Amelia will also be getting some blood drawn this week.  I just received a call last week that our insurance company authorized genetic testing for a connective tissue disorder that could be serious, so her doctors have decided to go ahead with testing.  Results will take 6 weeks to come back.  Since Amelia was seen by her genetics doctor at only 1 week old before any treatment, they were able to point out some characteristics that line up with her arthrogryposis to make this syndrome a very real possibility.  Another reason her appointment with the cardiologist is an important one.

The days are going by so fast...  Not knowing what lies ahead for Amelia can weigh heavy on our minds, but I have also been able to put that worry aside so that I don't miss being able to take in this time with my little Amelia, and Elsie and Sam for that matter.  I will never have these moments of smiles and coos again once she passes that stage.  This again is only achieved through prayer, I believe!  I'm usually the worrier to the point it consumes me at times. So, when I stop to think about that, it's pretty amazing!    

Good morning!!
Please continue to pray that:

Amelia will continue to respond well to treatments and tolerate her splints...
That the appointment with the cardiologist will be a positive one with some clarification...
Elsie and Sam will continue to adjust well...
God will give us perseverance each week...

So, with that, I would like to share with you another verse that a good friend of my mom's, who battled cancer, shared with me.  God's promises...

"I WILL LEAD the blind by ways they have not known, along unfamiliar paths I WILL GUIDE THEM; I WILL TURN the darkness into LIGHT before them and MAKE THE ROUGH PLACES SMOOTH. These are the things I WILL DO; I WILL NOT FORSAKE THEM."  Isaiah 42:16

Thank you again for continuing to support us in so many ways!!  We have been SO blessed!  In fact, this Sunday our Amelia will be baptized!  We are so excited to officially commit her to Christ and in realizing she is His first, we will do our best, with His help, to raise her to love Jesus with all her heart!  If you would like to join us, you are welcome to come!  If you need the details, leave me a comment and I'll be in touch!

"I have called you by name; you are Mine."  Isaiah 43:1

1 comment:

julesann m said...
This comment has been removed by the author.