My name is Kristin. I’m an avid runner and also a patient living with a rare disorder called homocystinuria (HCU).
My journey started 34 years ago when I became the first person in the state of Maryland to be diagnosed with homocystinuria following the start of mandatory newborn screening. My parents, Bill and Cathy, were both shocked and concerned when they received this news. My pediatrician, who was trying to answer my parents concerns, took out the medical dictionary and looked up homocystinuria. There was only one paragraph on the disorder; however, he assured my worried parents that the genetics clinic at Johns Hopkins was well equipped to handle metabolic disorders.
What is homocystinuria?
Homocystinuria is a rare metabolic disorder affecting the body’s ability to breakdown an amino acid in protein. This results in high levels of homocysteine building up in the blood, and can cause some serious medical problems. About 1 baby is 300,000 is born with HCU.
The doctors at Hopkins told my parents of the 4 major complications of homocystinuria:
- Nearsightedness & dislocated lenses of the eyes which can severely impair vision.
- Scoliosis (curvature of the spine)
- Mental retardation
- Blood clots are the most serious complication. Without treatment, one fourth of patients with HCU die as a result of thrombotic complications (heart attack) before the age of 30.
There is no cure for homocystinuria; however, many people are treated using high doses of vitamin B6. I am B6 non-responsive, and have a more severe form of HCU. When I was a baby, my doctors at Hopkins told my parents that treatment by diet was still considered experimental, but that they were extremely optimistic. They started me on a low protein diet supplemented with a formula. As I got older, they added to the diet a medicine called betaine.
Growing up with HCU:
I feel very blessed to have had such wonderful, loving & dedicated parents who along with my doctors at Johns Hopkins closely monitored my diet in my formative years. I will also sheepishly admit that I did not make it easy for them. The diet is very strict, and I would often try to eat things that were not allowed. A person with HCU shouldn’t eat meat, eggs, cheese, fish, and many other foods that are high in protein. On top of that, there is the formula which is not pleasant tasting, but is necessary for proper growth & development. To compound things, when I eat something I’m not supposed to – let’s say a slice of pizza – I don’t feel sick in any way. HCU is not like a food allergy or diabetes, where eating the wrong food will result in an immediate physical reaction. This makes it is very difficult for a child to understand. I often felt it was unfair that my brothers & classmates could eat things like pizza, hot dogs, ice cream & cake. My parents had to learn the fine art of making me feel special, but not different from my peers.
Aside from my special diet, growing up I was like any other child my age. I participated in a variety of activities including ballet, gymnastics, basketball, softball, & girl scouts. I was above average in school, and attended several summer camps for gifted and talented children. My parents taught me an important lesson early on – that although the diet limits what I can eat – that doesn’t mean it should limit what I can do.
Connecting the dots:
I’m happy to say the diet has been successful & I have never had a major complication of the disorder. Throughout my life, I have never let HCU define who I am. My parents did such a great job in maintaining my diet and making me feel “normal” while growing up – that I sometimes forget I have HCU. However, this is not something that goes away as you get older, and I can’t deny that HCU is a part of my life.
Last year I had the opportunity to meet some other patients with my genetic disorder at the first ever homocystinuria conference in Denver. I had never met another person with HCU until that conference, and as I looked around the room, I realized how lucky I am to have been diagnosed and treated for HCU at such an early age. I was overcome by emotion listening to everyone’s stories, and I came away from the experience with a desire to do something to impact others living with rare disease & their families.
I got into running a few years ago. My love of running started with the Broad Street 10 miler in Philadelphia. The thing I remember most about that race was the expression of pride on my parent’s faces when I crossed the finish line. That was the only race that my Dad, Bill, ever got to see me run. He was diagnosed with cancer in 2007, and passed away in September of that same year. After his death, running became an outlet for dealing with that difficult time in my life.
Since then I’ve completed several races including 3 half marathons, 2 century bike rides, and last fall (inspired by the stories at the HCU conference) I completed my first full marathon.
After the marathon I started thinking of ways I could connect my passion for running with my desire to help others struggling with rare disease. While doing some research on the internet, I discovered the Running for Rare Disease team. On April 16th, this group of dedicated Genzyme employees will be running in one of the most prestigious races in the world – the Boston Marathon. They will be representing 10 different rare diseases. I am thrilled to be participating with them as a patient partner to bring awareness to HCU and other rare diseases.
Each runner is paired up with a patient partner, giving them an opportunity to connect with someone who lives with a rare disease. Last week I had a phone conversation with my Genzyme partner who will be running the marathon in my honor. Although, he doesn’t know this yet, for me things came full circle when I learned his name because it is the same as my Dad’s. Good luck on your race Bill!