Journey of a HCU Runner – Kristin

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For those of you that don’t know me, my name is Kristin.  I’m an avid runner, a patient living with a rare disorder called Homocystinuria (HCU), and I’m beyond thrilled to be part of this year’s Boston Marathon Team!

I can’t believe in less than 2 weeks, I’ll be crossing the starting line of the 2013 Boston Marathon alongside my friends & fellow runners on the Running for Rare Diseases Team.  Lately, I’ve been reflecting on how this amazing journey started.  I thought I’d share with you some of my memories over the past year and my hopes & dreams for the future.

APPROACHING THE STARTING LINE

Last year, I was searching for a way to combine my love of running with creating awareness & fundraising for my rare disorder Homocystinuria (HCU).  In the past, I’ve participated in walks, runs, and bike rides for different charities, but I’d never come across any event for my rare disorder – no surprise there because it is so rare, and our HCU community doesn’t have an established non-profit.  I started thinking about the theme for Rare Disease Day 2012, “Alone we are rare, together we are strong.”  I thought maybe I need to think broader…bigger.  And that’s how I discovered the Running for Rare Diseases Team – a group of dedicated Genzyme employees who have run in the Boston Marathon the past few years & in the process has raised an impressive amount of money for the National Organization of Rare Disorders (NORD).

Once I found the Running for Rare Diseases Team, I knew I wanted to be part of it, but I couldn’t see how to get involved.  I was also a little intimidated by this group – after all, these aren’t just runners, these are Boston Marathoners.  Despite my reservations, I decided to just email them.  Little did I know then – the chain of events that simple email would set in motion.

2012 Boston Marathon Team!

2012 Boston Marathon Team!

I got a response from Phil (the leader of the Boston Marathon Team) within 24 hours, and that email lead to several phone conversations in which I shared my story with Phil, he told me about the Marathon Team, and asked if I’d be interested in participating with them as a patient partner to one of the runners for the 2012 Boston Marathon.  I jumped at the opportunity; I was SO excited to get involved!

Over the course of the next few months, Phil partnered me with Bill (another runner on the team).  Bill and I chatted on the phone quite a bit.  We often talked about running, and I tried to encourage him throughout his training.  He planned on running a half marathon in Wilmington, DE & I decided to register for that race myself so we could meet in person.  The week before the half marathon, Bill emailed me one day and asked if we could talk about something.  I figured it was just logistics about meeting up for the Wilmington race.  I called him that evening & he conferenced in Phil.  I quickly realized this call was a little more important.  They asked me if I’d like to join the Marathon Team in Boston…as a runner.  A spot had opened up on the team when another runner had broken her foot during training. I was in absolute shock!  Are you kidding me, do I want to run in the Boston Marathon – the oldest & most prestigious marathon in the world?  The Boston Marathon is every runner’s dream race – it’s #1 on the bucket list.  Yes, of course YES I want to run in the Boston Marathon!!!

The weekend after I found out I was going to run Boston, I met Bill for the first time at the half marathon in Wilmington.  It was a nice pre-Boston warm up for both of us, and also nice that we got to meet face to face before the BIG RACE.  As I suspected, Bill is a faster runner than me, and throughout the half marathon I kept telling him he could run ahead.  But, he refused to do that.  Instead, he stayed by my side throughout those 13.1 miles encouraging me to keep running.  I was in agony trying to keep up with him.  I was not exactly loving life during that race, but Bill, on the other hand, was smiling & high-fiving people.  That day he pushed me to my limits & I ended up running faster than I ever had before.  He also taught me to have fun while doing it.

Bill and I crossing the finish line at the Caesar Rodney Half Marathon!

Bill and I crossing the finish line at the Caesar Rodney Half Marathon!

The next few weeks before the marathon went by so fast, but I got the opportunity to connect with one of the other runners on the team before the race.  Kai reached out to me & offered me a place to stay in Boston during the marathon weekend.  I graciously accepted her offer, and she followed up to make sure everything was set for my arrival in Boston.  She asked me what I could eat (knowing that I’m on a protein restricted diet), gave me tips for tackling the Boston Marathon course, she even shipped me a book about the history of the Boston Marathon.  We instantly bonded, and it is a friendship that solidified the weekend of the race & has continued in the months after the marathon.

Catching up with Kai this summer in Newport, RI.

Catching up with Kai this summer in Newport, RI.

I met the rest of the Running for Rare Diseases Team the weekend before the race, both the other runners & their patient partners.  I was especially impressed with 2 other runners – Shane & Lisa.  Like me, Shane has a rare disorder – Stiff Person’s Syndrome.  Shane flew in all the way from Australia.  This was his second year participating with the team.  In 2011, he finished the Boston Marathon in 4 hours 17 minutes, an amazing time for anyone, but unbelievable for someone with SPS.  I learned recently that he just completed his first 100 miler – unreal!  Lisa works for Genzyme & flew in from California with her family for the race.  I learned over a team dinner that she has run over 70 marathons.  How impressive is that?  At the time, I only had 1 (very slow) marathon under my belt.  I was blown away by both Shane & Lisa’s accomplishments.

GOING THE DISTANCE

In many ways, the marathon is a metaphor for life.  Sometimes, it’s a slow uphill battle, sometimes it’s a fast downward sprint, and other times it’s steady & flat.  At times, you will feel like you are flying across the pavement, the wind is at your back & everything is going right, and other times – you will hit a wall & feel as if you can’t possibly take one more step forward.  There will be parts when you are surrounded by other runners & spectators, and then there will be times when it’s just you, alone.  You’ll be amazed by the kindness of strangers, shouting your name & cheering you on.  And then, someone will cut you off in the pursuit of the last cup of water.  Some things will make you laugh & smile along the course, and other things will make you wince in pain.  No matter how much preparation you put in before the race – there are always obstacles to overcome that you don’t anticipate & you don’t have control over.  You just have to learn to react & adapt.

HCU sign

For many runners, the 2012 Boston Marathon was a perfect example of this metaphor.   I don’t think anyone anticipated it would be pushing 90 degrees in Boston in April.  The Boston Athletic Association even took the unprecedented step to allow runners to defer until next year.  For someone with a serious medical condition, it was definitely something to consider.  Did I defer?  Absolutely not, there was NO way I was going to sit out of the Boston Marathon – but I did adapt.  Like most runners, I am goal oriented & I had several goals for a finish time in Boston.  In some ways, the heat worked to my advantage because I felt that any (self-inflicted) pressure I had to complete the course in a certain amount of time went out the window with the heat warnings.  It left me free to soak in the experience.

Boston Marathon 2012!

Boston Marathon 2012!

And what an experience it was!!!  Everything is still very vivid in my mind.  I remember the light-hearted mood on the drive over to Athlete’s Village and the nervous butterflies in my stomach when the race started.  I soon found myself running behind some guy in a hamburger costume, which was particularly ironic considering I can’t eat hamburgers.  (People with HCU can’t eat anything high in protein.)  I immediately vowed to pass him.

The infamous Hamburger of Boston 2012.

The infamous Hamburger of Boston 2012.

The 500,000 spectators holding up signs or hoses on their front lawn & handing out ice cubes and water-soaked sponges were amazing & SO needed on that hot day.  I can remember hearing the roars of the crowd as I ran through the Scream Tunnel.  I remember hugging my Mom at Mile 14 & crying because I knew how proud she was.  Then, to my surprise, Kai joined me and said she was going to run with me to the finish line.  We conquered Heartbreak Hill together & I began to realize how far I had come.  When I saw the CITGO sign, I knew that meant I only had one mile left to go.  All these experiences were great, but nothing compared to the wave of emotions when I took a right on Hereford, a left on Boylston – and I could see the finish line.  I looked to my left & to my right, pausing for a moment to take it all in.  Flags & spectators lined the course leading up to the finish line & my good friend Kai was just in front of me – encouraging me again, as she had done for the past 12 miles.  I saved up every last bit of energy I had for that moment & I sprinted to the finish line.

The Finish Line of the 2012 Boston Marathon!

The finish line of the 2012 Boston Marathon!

CROSSING THE FINISH LINE

The finish line is just the beginning of a whole new race.

After the 2012 Boston Marathon, I came home with many treasured memories, stories, and well-earned bragging rights.  After all, I had survived one of the hottest Boston Marathon’s on record.  (I later found out that even the 2011 Boston Marathon winner had dropped out of the race at mile 18 because of the heat, and he’s from Kenya!)

But soon, I realized it was time to work on the next set of goals.  I decided to continue the momentum from Boston into the summer and fall & I signed up a bunch of races including 2 10K’s, an 8 mile obstacle race/mud run, 3 half marathons, 2 century bike rides, my first triathlon, and one more full marathon for good measure, to close out the year.  At the same time, I continued to focus on what I could do for the HCU community.  I volunteered to participate in a clinical trial in Denver, CO for a potential new treatment for HCU.  As I write this blog, the trial is still ongoing – so there are no published results yet.

Sprinting to the finish line of my first triathlon in September!

Sprinting to the finish line of my first triathlon in September!

Between work (I work full-time for a local accounting/payroll firm), talking to HCU families, managing my disorder, and my ambitious summer/fall training schedule – I was busy to say the least, but I managed to also stay in touch with my new friends in Boston.  And right before Thanksgiving, I got a call from Kai – asking me if I’d be interested in running in the Boston Marathon again.   I nearly fell off my chair.  I told her without hesitation, “I am ALL in.”

It’s like déjà vu.  Again, the last few months have been a blur.  I’ve been busy working, training, fundraising, and talking to everyone I know about HCU.  But this year is a different race – and although some fundamental things are just like last year, other things have changed.  This year isn’t about my race – it’s about Will’s race.

My patient partner Will

My patient partner Will

Will is my patient partner this year, and like me, he was born with HCU.  His story highlights an important issue all new parents should be aware of – newborn screening.  In the US, all states are required to screen for certain rare disorders, however, newborn screening does not test for the same disorders in all states.  In Colorado, Will’s parents (Chris & Tara) were given the option of an extended newborn screen which tested for an additional 25 rare disorders, including Homocystinuria (HCU).  Will appeared to be a normal, healthy baby.  There was no indication he had a rare disorder, but, they elected to have the extended screen done.  They were shocked when the results came back that Will had tested positive for HCU.  What would have happened to Will had they not opted for the extended screen in the hospital?  

In 1985, there was an international study on untreated HCU patients.  It showed that by age 10 years, 70% had dislocated lenses; by age 15 years, 50% had spinal osteoporosis; and by age 30 years, there was a mortality rate of 23% in B6-nonresponsive patients and 4% in B6-responsive patients. There was also a  30% chance of a developing blood clots before the age of 20 years, which increased to 50% by the age of 30 years.

Very scary statistics, but that was only the first step in Will’s race.  Like me, he’s considered one of the “lucky ones” because he had an early diagnosis, and was started on treatment as a baby.  So far, the treatment has been successful for Will, but he’s still got a long way to go.  Unless there is a cure for HCU, he will need to follow a very strict low-protein diet & take medication for the rest of his life.  The diet is so restrictive that many patients have difficulty complying.  And there are no guarantees; symptoms of the disorder could develop at any time.

Will with his sister Annika

Will with his sister Annika

 

Will is my reason for running the 2013 Boston Marathon.  He is my motivation & inspiration.  It is my hope to help him in some way on his HCU journey, as the Running for Rare Diseases Team has helped me on mine.  All the funds I raise this year will be going towards NORD’s HCU restricted research fund.  Hopefully, someday there will be a cure for HCU, and Will and I can cross that finish line together! 

If you’d like to make a donation, please stop by my Firstgiving page (see link below).  Any amount is greatly appreciated!

 http://www.firstgiving.com/fundraiser/kristinrapp/bostonmarathon2013

will

Posted in Patient Stories
6 comments on “Journey of a HCU Runner – Kristin
  1. Jessicac says:

    Great post, Kristin! I am so inspired by your story and so happy to be one of your teammates crossing the starting line — and finish line! — with you this year. I especially love what you wrote about the ups and downs of marathon running as a metaphor for life; I totally agree.

    We are less than 2 weeks away!! Can’t wait! :-)

  2. Dan says:

    Kristin, you are an inspiration. I’ll be rooting for you out on the course, and all the best to Will!

  3. Tara Hummel says:

    As a mom, I always am hoping my kids will find a great role model to look up to. It’s not easy these days. After reading this story with many tears of joy, I don’t need to look much further. You are an incredible person, not only as a kind, hard working and caring young woman, but as an HCU inspiration for Will. Added bonus, my daughter gets to learn how strong women can be! And we learn from you that anything is possible and we need to dream big! Our whole family is behind you 110% and can’t wait to watch you run in Boston next week. Thank you for letting us be a part of your dreams!!

  4. Laurie says:

    Thank you for sharing your story. I know the folks at Genzyme well from my professional life, but I was more excited to read your story and to share it with my cousin, his 4 year old son also has HCU. Thank you for being an inspiration and amazing role model!

  5. Sheila Kuhn says:

    Hi Kristen,
    Our beautiful grandbaby was born last May and we soon learned that she has HCU. Of course, while we were so thankful that she was diagnosed at birth, we were devasated and really didn’t know what to expect. Not too long after that my son found your story on-line whe searching for info on HCU. Your story gave us so much hope and we were supporting your run. I know you will be a role model for our Maeve one day. We pray for a cure for HCU. I am writing to tell you that when I heard of the bombng in Boston, my first thought was of you. I have been praying that you and your fellow runners are safe from harm.

  6. Anonymous says:

    I think Will’s sister Annika is the prettiest girl ever

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