Rare Disease Day

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Today is Rare Disease Day. As many of you know, my daughter, Taylor, has a rare genetic metabolic disorder, MPS. Her subtype is known as Sanfilippo Syndrome. Her disease is neurologically degenerative and the average lifespan for her type of MPS is 10-15 years. Taylor is 17 and God has graciously blessed us all with her health. While we have our ups and downs, each day we live is by faith, trusting God’s plan for our lives on a daily basis.

For more information on MPS, check out the MPS Society website and for more information on Rare Disease Day, check out www.GlobalGenes.org.

I hope you’ll wear jeans in her honor today. And if you think of it, purple is the MPS color, as well as Taylor’s favorite color.

Have a fantastic Friday!

Rachel

International MPS Awareness Day May 15

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International MPS Awareness Day is a special day close to the heart of the Wojo tribe. There are some days in life you never forget and one of them for me was the first night I read the word mucopolysaccharidoses (MPS). A pit formed in my stomach and tears flowed down my face as I recognized and matched all Taylor’s symptoms together in one explanation after searching for several years and visiting over 25 doctors.

MPS is a genetic lysosomal storage disease caused by the body’s inability to produce specific enzymes. In normal functioning, the body uses enzymes to break down and recycle materials in cells. In individuals with MPS, like my Taylor girl, the missing or insufficient enzyme prevents the proper recycling process, resulting in the storage of materials in virtually every cell of the body.

Currently there are treatments available for various types of MPS, but as of yet, there is no cure. For Taylor’s particular subtype, there is currently no cure or treatment.

In plain language, Taylor’s nerve connections have slowly been destroyed over time. For the first three years of her life, she functioned well, only slightly delayed. But while she was once a bubbly happy singing talkative child, now she requires assistance for all of her basic daily needs. She can walk with guidance. There is much to be thankful for.

God has graciously blessed me with Taylor. Her life shines as someone who never gives up, but keeps going on, day after day. She has taught me so much about joy and persistence.

Early diagnosis is key for many types of MPS, as certain types can be treated, and the earlier the better.

For more detailed information, please visit the National MPS Society.

And today, would you mind sharing this?  Another child’s functioning could be preserved for many years simply through your click, tweet, pin or share.

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The Magic Number

Today is a very special day- the magic number has arrived.

My Taylor girl turns sweet 16 today;16 is significant for many reasons.  Most would think of a driver’s license…dating…  But for our family, Taylor turning 16 is HUGE simply because- we were never sure that Taylor would turn 16.  Since we received Taylor’s diagnosis of MPS when she was 4 years old, a medical number has been assigned to her days on earth. The average lifespan for a child with MPS is 10-15 years.  God has been very gracious and we’ve learned to trust His timing.

So today we celebrate! We celebrate life as a gift and Taylor as a gift.  A very small part of that gift are the words that follow:

Dear Taylor,

Though you can no longer sing, your sweet melodies echo from previous years as those of a musical genius.

Even if you cannot speak, your execution of life lessons is flawlessly delivered to willing students.

While you can’t form sentences or write even one letter, your dissertations flow as the most polished author.

You may be stumbling more frequently and losing the ability to walk, but your life is the finest example of firm tenacity and perseverance.

Each day you teach me that life is so much more about BEING and not DOING.

Each day you lead me on the journey of faith in God, belief in His Word, that all things work together for those who love Him.

Every day you are a clear reminder to trust God, not only for eternal life, but for everyday life.

And so we celebrate the gift of life God gave through and in you. I love you dearly and look forward to the day in Heaven when you will be whole, without MPS, singing and dancing and chattering once again.

I would love it if you’d leave Taylor a birthday wish in the comments today. Have a wonderful day and be thankful for the gift of today.