HCU Heroes - Hayley's Story

The following blog post was written in cooperation with Janna Thomas.  Her youngest daughter, Hayley, was diagnosed with HCU following newborn screening in the state of Texas.  Her story reminds me a lot of my own, which makes it very personal.  I will absolutely be dedicating one mile of my 2014 Boston Marathon to this sweet girl!

After nine months of excitement, preparation, and planning for a new baby, on May 15, 2012, we welcomed our precious little baby girl Hayley into this world.  We had a smooth and normal delivery and got sent home after doing the first newborn screening heel prick.  Two weeks later we did the second newborn screening test, and it was after that, we learned Hayley had a very rare metabolic disorder called Homocystinuria.

Homocystinuria has an occurance of 1/400,000 and there is no cure.  For Hayley, protein is toxic to the body and can act like a poison.  It causes homocysteine to build up in the blood stream causing deadly blood clots, premature strokes and heart attacks, learning delays, dislocated eye lenses, and many other symptoms.  Hayley is on a very overwhelming and severely restrictive diet.  Her life will be much different than that of her siblings.

She can't have chicken nuggets or share an ice cream with her Mommy at McDonalds.  She also can't have birthday cake or pizza at her friend's birthday party.  Nor can she share a big box of popcorn with her Dad at the movie theater.  Hayley's nutrition depends on daily supplementing medical formula three times per day and taking two medications twice per day.

Her diet mainly consists of very small amounts of fruits and vegetables and lots of medically manufactured food.  Medical formula and medical foods are both NOT COVERED by our insurance and costs are outrageous.  Everything has to be ordered online; we have the hardest time finding stuff she can eat from local grocery stores.  Her medicine is only available through one supplier in the USA.

Hayley has a dietician and gets her blood drawn every 3-4 weeks to monitor her levels to make sure she is in the safe zone.  However, her levels change day to day and symptoms are ever present.  Hayley is your typical toddler that loves to play, dance, and get into everything.  Despite her diagnosis, she is a very happy and beautiful little girl so full of life.

If you'd like to make a donation to NORD's HCU restricted research fund in support of Hayley or another HCU Hero - please stop by my fundraising page for the 2014 Boston Marathon: 

http://www.firstgiving.com/fundraiser/kristinrapp/bostonmarathon2014