Monday, April 16, 2012

The Story of My Body: Lizzie

I was born with an extremely rare genetic condition known as X-Linked Dominant Hypophosphatemic Rickets (XLH). From the XLH-network website: In XLH, the body's mechanisms to make and maintain bones and teeth do not work correctly. One of the things needed for good bone growth is the mineral phosphorus. The key characteristic of XLH -- low phosphorus in the blood, also known as hypophosphatemia -- is the result of a mutation that essentially inactivates one of the genes on the X chromosome. When this gene, called the PHEX gene, has the XLH mutation, a protein circulating in the bloodstream called FGF23 increases, causing the kidneys to waste phosphorus and suppresses complete activation of vitamin D to a form the body can use.  The loss of phosphate from the kidneys prevents the body from maintaining the proper level of phosphorus in the blood. Symptoms of XLH can be bowed knees, short stature, spontaneous tooth abscesses, and bone pain

From looking at me, you can not tell I have XLH: I do not have bowed legs, my spine is straight, I’m not overly-short, and I have great teeth. Going to our yearly endocrinologist appointments at Yale University Hospital, our doctor always showed my sister and I off to residents and other doctors. All were amazed we could play varsity level sports in High School. We were both put on medicine (a strict regimen of K-Phos, taken 3-4 times daily, and Calcitriol, taken twice daily) early, which I think is why we do not have outward evidence of our “disease."

I did, however, have bone pain growing up...knee and ankle pain mainly. I did play sports (lacrosse, field hockey, and swimming), but wore knee braces on both legs...they were blue, which matched our school colors, so I was called “Blue Legs” by my teammates on the field hockey field. While I enjoyed the team atmosphere of the sports, I never enjoyed the running. It hurt too much. After high school, I stopped playing all sports. My sister recently told me that she also hated running and playing sports because she was made fun of for “the way she ran”.


Yes, I run wicked pigeon toed as does my sister!
When I was in my mid-20s, I went to my annual exam and my blood pressure was too high. This confused the doctors because I wasn’t overweight, I ate properly, etc. The only thing I wasn’t doing was exercising. So, I joined my husband’s (boyfriend at the time) gym and we went every morning together. I began to lift weights and do different cardio exercises. In the end, the reason my blood pressure was elevated was due to “the pill," but this motivated me to be more active and I quickly became a “gym rat.” I even worked-out up until the day I delivered my son.

My 5 year old son, Simon, was also born with XLH. He is the first male in my family to have the “disease.” While XLH affects everyone differently, XLH usually affects males worse than females. This has definitely been the case for my son. While, like me, you can’t tell by looking at his legs  that he has XLH, he has had his own share of issues. The obvious is that he is short...he has always been in the < 3rd percentile for height. The not obvious is that he required surgery at the age of 2 for sagittal craniosynostosis (the premature closure of the sagittal suture) and also had a spontaneous abscess in a perfectly healthy tooth at age 4.

Before surgery

After surgery
 While I used my disease as an excuse not to do certain things growing up, I am striving to be a role model for my children. After the birth of both of my children, I stopped going to a gym, but tried to stay active. I started by walking and then eventually running short distances around the neighborhood. When my daughter was almost a year old, I heard about a local event, the Ramblin’ Rose Triathlon, on the news. I thought, what a fun, and doable, idea! I eventually talked my sister-in-law into it and we both registered for the inaugural, Raleigh event, in May 2010. My endocrinologist at Yale, was very impressed that I was going to compete in it, but also seemed weary of me doing it. While it down poured the entire time,  we had a great time! 


After that, I met a parent of one of my daughter’s friends at daycare and she eventually talked me into training for my first half marathon. This idea was also met with skepticism from my doctors and family. I once again proved them wrong and completed my first half marathon in early October 2010.

Me, on the left, and my “running partner in crime”, Kim, after my first half marathon

 Since then, I’ve competed in numerous 5Ks, 8Ks, 10Ks, and 2 more half marathons before I was sidelined in the Fall of 2011 with a hip injury. After doing almost three months of physical therapy, my therapist told me I’d probably never be able to run a half-marathon again, but could “Galloway” it (do a run:walk ratio). While I respect the Galloway method, and people that use the Galloway method, I did not want to do it. I took my “come back” slowly...had some set backs/pain...but muddled through and continued to do my PT exercises, stretches, foam rolling, icing, and taking it slow on my runs. I just completed my first half-marathon since physical therapy and beat my previous PR by almost 5 minutes. Most importantly, I completed it pain-free and with a smile on my face.

I may not have the perfect body, inside or out, but I will not let that keep me from achieving my goals and showing my children that they can do anything they set their mind to.


Finishing my most recent half marathon w/my son...and my daughter in the background trying to keep up ;)
The Story of My Body series is currently published on Mondays and Fridays here at Contentedly Crunchy.  Would you like to participate in this series? Email me your words and pictures!
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