Trey's Treasures: Minnesota Schedule

Friday, January 29, 2010

Minnesota Schedule

We just received the "okay" from Dr. Whitley to change Trey's bi-annual (6 month) check up from March to June. Our family is throwing a 90th birthday party for my grandma at her home in MN this June. So instead of having to incur the expense of traveling back and forth to MN in March for Trey's check up and then again in June for the birthday party, Dr. Whitley agreed that one trip would be fine for both. So far we have meeting's with Trey's geneticist, pulmonologist, cardiologist, orthopedic, and endocrinologist. We are hoping that Trey won't have to meet with the neurologist this time since we no longer have concerns in this area. We are also hoping that we won't have to see doctors for Trey's eyes and ears in MN as we are very happy with these two doctors here in AZ and feel confident with the care we are receiving in these areas...I guess that will be determined after our initial meeting with Dr. Whitley. We are awaiting an email back to see if we could meet with a PT and an OT during our visit. I would love to see how Trey is fairing in comparison with other MPS patients in MN since the specialists have so much more data and patients available to them there. If all goes well we will meet with Dr. Whitley first thing on a Monday morning and then again on Thursday with all other appointments happening in between so that we can drive up North for the birthday party by Saturday.

*just a picture I love of the boys*

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WHAT IS MPS?

Mucopolysaccharidoses (MPS) is a genetic lysosomal storage disease caused by the body's inability to produce specific enzymes. Normally, the body uses enzymes to break down and recycle materials in cells. In individuals with MPS, the missing or insufficient enzyme prevents the proper recycling process, resulting in the storage of materials in virtually every cell of the body. As a result, cells do not perform properly and may cause progressive damage throughout the body, including the heart, bones, joints, respiratory system and central nervous system. While the disease may not be apparent at birth, signs and symptoms develop with age as more cells become damaged by the accumulation of cell materials.

WHAT IS MPS IVA?

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.

Quotes that INSPIRE

"Life isn't about waiting for the storm to pass. It's about learning to dance in the rain."

“The Will of God will never take you where the Grace of God will not protect you”

When God leads you to the edge of the cliff, trust Him fully and let go, only 1 of 2 things will happen, either He'll catch you when you fall, or He'll teach you how to fly!

Life may not be the party we hoped for, but while we are here we might as well dance!

May your Troubles be less,

Your blessings be more,

And Nothing but Happiness

come through your door.

Our suffering can make us more sensitive servants of God. People who have known pain are able to reach out with compassion to others who hurt. If you have suffered, ask God how your experience can be used to help others.

Beautiful One,
Just Believe...

Waiting may be the single hardest thing we have to do. In the Bible, waiting is closely associated with faith. Sometimes the words are used interchangeably. While we may not like it, waiting is a necessary part of the Christian life. What God does in us while we wait is as important as what it is we are waiting for. Waiting is not easy. It may bring pain. It will try us and test us. It demands patience. It exacts a price…

When our eyes are on the sunshine, the rain doesn't seem so bad. When our eyes are on the rain, even the smallest drop seems like a storm.

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.