Rare Disease Day

1901487_10152226658900560_1280157538_n

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

Wonderful Time at the Ohio MPS Family Gathering

bible reading challenge day 203

On Saturday over 20 families who have children with MPS, a rare metabolic disorder, gathered together for Evento Italiano to celebrate the children and encourage each other at Northwest Chapel in Dublin, OH. Mucopolysaccharidoses (MPS) is a genetic lysosomal storage disease caused by the body’s inability to produce specific enzymes. My daughter, Taylor, is affected by the disorder.

(52)

For the last 12 years, our family has hosted this annual event to join families travelling this special needs journey together. ¬†¬†Families experienced an Italian feast of lasagna, spaghetti, pizza, salad and bread, catered by the awesome Perrine sisters and their baking crew from Richwood, WV (my hometown.) Love and laughter floated around the room as families enjoyed caricature artistry performed by Columbus Caricatures, Italian ice from Giuseppe’s, and professional photography services from J Duncan Photography.

A few rounds of bingo were enjoyed by all with wonderful prizes donated by:

Club 31 Women

Nikki Mazon- Lia Sophia

Sarah Moore- Barefoot Books

Renee Swope

Tommy Nelson

What’s In the Bible?

Masquerade Market

Amanda Underwood- Avon

Tricia Goyer

This Gal’s Journey

Brian & Amy Scheren- Cap City Diner & Gospel Homemaking

an anonymous donor of gift cards

an anonymous donor of Mary Kay gift baskets

Many thanks to all the volunteers who offered administrative services, cooked and baked, and cleaned up!

(57)

 

HUGE thanks to Northwest Chapel for their enormous generosity in providing the facility and to the National MPS Society for their incredible support!!

This event is one of my favorite days of the year; truly, I’m like a kid at Christmas. To see all the children together in one place is phenomenal and to have the opportunity to bring love and joy to all the families is such a blessing to our family!

taylorandmommy

To my Taylor girl:

Almost 17 years ago, God gave me the most beautiful, precious gift in the form of your life. While I had my own dreams and plans for you, God’s plan has unfolded day by day as larger and more incredible than my own dreams ever reached. Your beauty is exquisite and your smile infectious. Your love for life and zeal to press on is an example to all who meet you and more. I look forward to the day in Heaven when you can finally tell me all your thoughts of just how crazy your mama was on this earth. Until then, we enjoy each day of life to the fullest and press on to love God and others. I love you. Mom

To view all the photos from the event, click HERE.

blogsignaturebluebest

 

 

 

 

 

 

International MPS Awareness Day May 15

mps courage

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.

mps awareness day

signature