Fearfully and Wonderfully made

The Test Results are in
May 2, 2008, 5:58 pm
Filed under: Arthrogryposis

A little over a month ago, Giovanna went in to see a Geneticist.  We were trying to figure out what type of Arthrogryposis she had.  While we were there, it was decided to test to insure that there were not any other underlying genetic issues.  I was told there there are some chromosomal disorders that can also cause the sypmtoms that she has.  So Giovanna had tests to make sure that a) she had all of her genes, b) that there were no mutations, specifically on gene 19 and c) they were checking to make sure she did not have myotonic dystrophy – which is in the family of muscular dystrophy.

The results are in and she is normal on all counts.  Praise God for this good report.  She will go back next year to make sure that there are no major changes.   We are thankful for this good report. 


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.

What is Arthrogryposis?
January 13, 2007, 9:21 pm
Filed under: Arthrogryposis

Some of you have probably been wondering why we have chosen to do such a thing as a bone lengthening procedure on this little girl.  The answer is a bit of a story.

When Giovanna was born, because of her deformed arms and feet, her parents abandoned her – most likely to give her the best chance at getting the help she needed and they couldn’t afford.  We had a vague idea that she had some issues, but were not aware of the extent of them and it was not easy to determine from half a world away.  We had asked for a physical exam, but there was not a lot of information that made a lot of sense.  There was some mention of the term Arthrogryposis – but only in passing. 

When I talked with a friend of mine who works with special needs kids, her response was so positive.  “If she does have arthrogryposis, she will be really fun to work with.  They are the type of kids that you just show them what you want them to do and they figure it out.  I just write down what they do as if that is exactly what I wanted them to do.  They are really smart.”   

This should have been an indication that we were in for an interesting time.

Once Giovanna was stateside, the diagnosis of arthrogyposis was confirmed by the upper arm specialist.  So now we have both an upper and lower limb specialist that we see twice a year. 

The medical definition of arthrogryposis is (1) the permanent fixation of a joint in a contracted position; or (2) a congenital disorder marked by generalized stiffness of the joints, often accompanied by muscle and nerve degeneration resulting in severely imparied mobility of the limbs.

In layman’s terms – a stiffening of 2 or more joints and it is symetrical on both sides.

It is not progressive like other disorders- it does not get worse and with therapy there can be improvement.  Giovanna is considered mild to moderate with the disease.  Most with this disease can hardly move their affected joints much in any direction without a lot of pain.  Giovanna can be physically  manipulated through a full range of motion with little, if any pain.  However she has more joints affected than others.  Most have either legs or arms that are fairly limited in their mobility.  Giovanna has feet, ankles, knees, hips, hands, wrists, elbows, and shoulders affected, plus we now think it is her mouth and thus affecting her speech. 

So with that as background. . .

Giovanna came to us with bilateral club feet.  We have been told that in China her thumbs were bent back, almost touching her wrists.  However they did brace these and pull them into a position that was fairly functional.  The feet however needed some work.  She has had 3 surgeries on her left leg/foot – two of which can be considered failures and left her left heel at least 1.5 inches off of the ground.  We knew that there would be another surgery – it was just a matter of when.

So this summer when Giovanna began to complain of pain in her left leg – it was an indication that the time for the next surgery had come.  She has been walking on her tip toes for a little over 4 years – not the way the body was designed to workd by the Master Designer.  For her, it was like walking with shin splints every day and they were getting worse.  She is not a sit still child so when she began to sit, rather than run with the other kids because of pain, you know something isn’t right.

When Giovanna was asked about the surgery, her response was always the same, “Me no want!”  Because of the intensifying pain, the surgeon said, “sooner rather than later. ” We had hoped to put this one off until between ages 8-10.  God had other plans.  This gives her the best chance of having a flat foot. 

So the date was set and we are now waiting for God to determine if this will be the last one, at least for her left foot/leg.  Her right foot, which is not as bad will still need something to correct it.  The surgeon is not sure what he wants to do. 

So we wait and pray to see what God will be pleased to do.