Mucopolysaccharidosis IVA (MPS IVA, also known as Morquio A Syndrome) is a disorder characterized by deficient activity of N-acetylgalactosamine 6-sulfatase (GALNS) causing excessive lysosomal storage of keratan sulfate (KS). This excessive storage causes a systemic skeletal dysplasia, short stature, and joint abnormalities, which limit mobility and endurance. Malformation of the thorax as well as macrophage dysfunction in the lung likely impairs respiratory function and contributes to sinopulmonary infections. Odontoid dysplasia and ligamentous laxity can commonly cause cervical spinal instability and potentially spinal cord compression. Other symptoms may include recurrent infections, hearing loss, corneal clouding, and heart valvular disease. Initial symptoms often become evident in the first five years of life. Depending on severity of the disorder, age of diagnosis will vary. Many patients become wheelchair dependent in their second decade of life and undergo numerous surgeries to alleviate life-threatening conditions caused by the underlying enzyme deficiency.
The incidence estimates for MPS IVA vary widely, between one in 200,000 live births to one in 300,000 live births. Approximately 400 patients worldwide have been identified and tracked through the International Morquio Organization (IMO) survey. There are already more MPS IVA patients identified through this registry than there are MPS VI patients being treated with Naglazyme worldwide. Based on the number of identified patients to date, the prevalence of patients with MPS IVA appears similar to that with MPS I.
Please kiss my li'l Mr. Busy,
"He's my little bit of somethin' and my lotta bit of everything."
Love,
Mike/Dadda
THE POWER OF PRAYER. I believe that God only gives three answers to prayer:
1. "Yes!"
2. "Not yet."
3. "I have something better in mind."
God still sits on the throne.You may be going through a tough time right now but God is getting ready to bless you in a way that you cannot imagine.
Still wrestling with my fear
But, Oh, He’s up to something
And farther out I go
I’ve seen enough to know
That I’m not here for nothing…He’s up to something
My wish for you
Where there is pain,
I wish you peace and mercy.
Where there is self doubting,
I wish you a renewed confidence in your ability to work through it.
Where there is tiredness, or exhaustion,
I wish you understanding, patience and renewed strength.
Where there is fear,
I wish you love and courage.
where there is no noise, trouble,
or hard work. It means to be in
the midst of those things and still
be calm in your heart.
WITH THIS PAIN
I don’t see the reason or rhyme
for this mountain I must climb.
Father, I don’t understand,
so I’ll lay it in your hand.
So with this pain I am feeling now,
to your wisdom I will bow.
And accept you know what’s best,
so in your peace I can rest.
For the Word has made it clear,
how we’ll always find you near.
So all I ever need to know
is that with me you will go.
The Ultimate Quote of the Day
"Whatever you give a woman, she will make greater. If you give her sperm, she'll give you a baby. If you give her a house, she'll give you a home. If you give her groceries, she'll give you a meal. If you give her a smile, she'll give you her heart. She multiplies and enlarges what is given to her. So, if you give her any crap, be ready to receive a ton of %$*&^."
AMEN!
HAPPY MOTHERS DAY
O Sovereign LORD! You have made the heavens and earth by your great power. Nothing is too hard for you! Jeremiah 32:17
When is the last time you prayed for something "impossible"? We don't need to test God, but he does want us to have great hope in his ability to work miracles. So pray big today.
Rejoice?? Are you kidding??
Wait patiently for the LORD. Be brave and courageous. Yes, wait patiently for the LORD. Psalm 27:14
Sometimes our fears creep in because it seems like God is taking too long to answer us. Is he out there? Hold on--he will answer you, so you must trust him while you wait.
Here on earth you will have many trials and sorrows. But take heart, because I have overcome the world. John 16:33
God doesn't promise to protect us from problems on this earth. Instead he promises to give us the courage to face our problems with his strength.
If it were easy I would never depend on the Lord.
When darkness overtakes the godly, light will come bursting in. They are generous, compassionate, and righteous. Psalm 112:4
When you belong to God, there is no need to be afraid of dark times that may sweep over you. For God is our sun, our light to guide us through to the end.It's amazing how the good things of today become when you are unsure of the things of tomorrow.
Because I was small and weak
Jesus stooped down to me
and in secret taught me
the marvels of His love.
-St. Therese
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