Fearfully and Wonderfully made

What’s in a Name?
March 18, 2008, 11:45 pm
Filed under: Arthrogryposis

Just when I had finally learned how to spell and say Arthrogryposis correctly, I now have to learn a new name – the name of the specific form of arthrogryposis that Giovanna has!!!

A primer on Arthrogryposis – arthrogryposis which is really short for Arthrogryposis Multiplex Congenita (AMC) is a rare congenital disorder that results in multiple joint contractures.  It is not a progressive disease and the name is derived from the Greek which means curved or hooked joints – literally.

Now there are several types of arthrogryposis – Giovanna’s doctor says that there are at least 5 different types of this disease, two of which affect the tongue.  Since Giovanna is having issues with tongue placement in talking – it made sense to see a geneticist and try to determine which “type” she has.

That appointment was today (Tuesday 18 March) and the doctor’s best guess is that it is Amyoplasia Congenita or Amyoplasia.  Try saying that one 1o times fast!  Here is a description of the disease from healthline.com – Amyoplasia is a rare congenital disorder resulting in multiple joint contractures of the upper and lower limbs.  Amyoplasia literally means “absent muscle development.”    It is the most common form of AMC.  It occurs in one out of every 3,000 live births. 

The most striking feature of amyoplasia is the multiple joint contractures, which appear between birth and a few months of age. These joint contractures may affect arms,  legs,  or both. As a result of these contractures, muscles will often atrophy and become replaced by fat and fibrotic tissue. Additionally, joints can become encased in thickened, fibrotic tissue.

Amyoplasia results when a fetus is unable to move sufficiently in the womb. The lack of movement in utero allows extra connective tissue to form around the joints and, therefore, the joints become fixed. This extra connective tissue replaces muscle tissue, leading to weakness and giving a wasting appearance to the muscles. Additionally, due to the lack of fetal movement, the tendons that connect the muscles to bone are not able to stretch to their normal length and this contributes to the lack of joint mobility as well.

There are a couple of other conditions that could possibly account for Giovanna’s condition.  These are ruled out by blood tests.  She had 3 blood tests ordered – one to check her chromosomes to make sure that she has all 46.  The second one to check a specific gene on chromosome #19.  If both of these come back normal, chromosomal abnormalities can be ruled out.  This is s good thing.  The other test was to determine if she could possibly have something called mytonic dystrophy.  Pray that this test comes back negative – this is a degenerative disease and it not pleasant to deal with.

However we did not get enough blood to do all of the tests and my ears are still ringing from her screaming in them from the 6 times that they tried!  The good news – she laid very still while they tried to get the blood- most kids do not.  However we are now trying to determine a plan B to get the blood required for the remaining tests.

OK, now at least I know the name of the animal that we are dealing with and it doesn’t really change much – at least for now. 

The only other interesting thing from this visit – she had a major curve in her spine, which has not been picked up on before.  Most of the time the doctors were concerned with getting her walking and using her hands so her spine was never really looked at.  There is a 19 degree curve – concave left from T-11 to S-1, and includes all of the lumbar vertebra.  Doctors tend to get worried when the spine curves this much and it warrants monitoring.  This means that instead of seeing 2 doctors at the Shrine hospital when she goes for visits, now we will need to see 3!

Needless to say, Giovanna is not looking forward to her next doctor’s appointment.  We are currently trying to get an appointment at Shriners to have both her right leg and spine looked at.  She is beginning to complain that her right leg is hurting.  Part of her back issues could be related to her uneven gait and legs being different lengths. 

There is much to pray about and much to be thankful for.


Coincidence or Divine Appointment
March 18, 2008, 11:15 pm
Filed under: Arthrogryposis, Life with. . .

Helping a child to read is not an easy task.  It is often made more difficult when one has special needs that limit mouth or tongue movements.  When English is your second language, it can be even harder.

Working with the school district to get the help needed only complicates the matter – at times.  Phonics is a  proven way to get students reading well and fluently.  However in working with some ESL teachers, I have received comments like, “We don’t use phonic much anymore.  We tend to use word association.”

Word association might work for things like cat, hat, house and mouse, but what about words like glorious, majesties, physiognomy and propitiation – word association doesn’t work for these kinds of words. 

So the hunt began for a phonics program that would work with Giovanna’s special needs.  As I was getting near to the end of my unsuccessful search, a good friend said I should look into a program called Phonics tutor.  She used it years ago with her older kids and they had great success.  Her kids are fluent readers now.  Of course the place she had gotten the program was no longer in business! 

Google to the rescue.  I found the website, read about the program, looked at the demo and thought – this might just work.  But being the skeptic that I am, I decided to call and ask some very pointed questions.  So I dialed the 800 number and was expecting to get someone in customer service.  I ended up talking to the man who developed and wrote the program!  He asked many questions – I didn’t realize there was so much to know about phonics and teaching it.  He seemed to think it would work for her, but added that from my number, I was local and so was he.  He lives on the north side of the twin cities!  He was willing to come and evaluate Giovanna to see if his program would work for her.

When the day came, Giovanna decided to be shy but he was able to determine the following:

Yes she is able to learn to read and to read fluently

Yes she should be learning Chinese along with English as Chinese is her heart language and that will help her to make/learn English better and faster

Yes Phonics tutor should work for her!

So we are currently waiting for the software to arrive.  In the meantime, she continues to work through the demo and seems to be making improvements.

I heard from a friend that her daughter really struggled with reading and using the Orton-Gillingham phonograms upon which Phonics Tutor is based,  made a huge difference in progress.  She said her daughter went from not knowing the letter sounds to third grade reading level – in 9 months!!!  Praise God that He has directed us to a program that has a proven track record for children with special needs. 

Coincidence or Divine Appointment?  I will go with Divine Appointment.

A Tribute and My Thanks to God!
March 7, 2008, 11:53 pm
Filed under: A mother's heart

Today, 07 March, marks the 3rd anniversary of the home going of a dear friend.  This man also helped to shape the structure of our family.

In the summer of 2000, Doug Oyen took a team to an orphanage in China.  This team ministered to those who had been abandoned by their parents.  In this orphanage was an American couple that had a special place in their hearts for a small infant with special needs.  The life of that child and this family were forever changed with that trip to China.

I still remember the first time that Doug saw Giovanna stateside.  It was in December of 2002 – about 6 months after arriving here.  She had been through much in that period of time.  Two of my boys were attending an inner city school and we were at the Christmas Pageant.  Giovanna had just begun to walk a few weeks prior to the pageant.  Doug saw her walking from across the room.  It took a second look to be sure that he was seeing what he thought he was  and he was moved to tears at the sight of this little orphan girl, now in a family and walking.  It is an amazing sight to see a 6 foot 6 inch man moved to tears at the sight of a 2 foot tall 2 year old walking.  God had orchestrated many events to make this reunion possible.

Giovanna loved Doug and called him “Papa O” .  When ever she would see him at church, she would run over to her, lift her arms as high as they would go and laugh as he lifted her up into the air as high as he could.  She would have that huge smile that lights up a room.  It was a delight to see them together.

When Giovanna heard that Doug has died,  her response was, “Doug Die?”  Then she went to get the blanket that he had given to her at Christmas time.  She wrapped up in that blanket on the couch and after a bit said, “Doug come car?”  Courtney responded, “No, he can’t come in a car.”  Giovanna was not to be put off that easily and modified her request, “Doug come, big car!”  I am not sure she really understands the whole concept of death. 

When I heard of Doug’s death, I was reminded of a favorite song of mine, I will Glory in My Redeemer.  The last verse of that song is:

I will glory in my Redeemer
Who waits for me, at gates of Gold
And when He calls me, it will be paradise
His face forever to behold
His face forever to behold.

Doug received the call to his true home and is now beholding the face of his Redeemer – forever!

Doug left a legacy.  He told some friends of mine that if he never made another trip overseas, all of his trips were worth it even if it only meant that one girl was rescued and given a second chance.  That one girl, now goes by the name of Giovanna Hua Ming and she is my daughter. It is a precious thought to remember that Doug gave his life to the service of Christ and Giovanna is one of the fruits of his service.

He is missed, but his life has had a lasting impact on this family – forever!