HCU Heroes - Pam's Story

The following blog post was written by Pam Penrose about her HCU journey.

Pam was born in Long Beach, California in 1957.  There was no newborn screening at that time.  Newborn screening first debuted in the United States in the early 1960s, and has expanded to countries around the world, with different types of screening in each country. Pam's story is truly amazing.  After suffering several major medical issues, including blood clots, and even a stroke; she did her own medical research.  She was determined to find an answer, and what she discovered was Homocystinuria.  Pam's determintation is exactly what I hope to channel when I'm running in the 2014 Boston Marathon.  I'm thrilled to dedicate one of my Boston Marathon miles to you, Pam!

I am Pam Penrose and I was diagnosed with Classic Homocystinuria in April of 2011 at the age of 54. Growing up, I had always thought I had Marfan Syndrome, a connective tissue disorder.  This was because at the age of two, my parents were told I had dislocated lenses in my eyes.  This was something that doesn't show up in many conditions, and at that time, no one knew about Homocystinuria.

 

When I was 46, I suffered a stroke. Luckily, it was very mild, but obviously very scary. I often

questioned why this happened to me since I had been following a healthy lifestyle for quite

sometime. After that I resigned from my teaching job, and made an appointment at Stanford

Hospital's Marfan's clinic. Although I didn't totally fit the criteria, they too thought I probably had Marfan's.

 

A few years later, I was hospitalized with blood clots in my lungs. I was put on Coumadin for six months. Two weeks after stopping the Coumadin, I again was hospitalized with more blood clots in my lungs. An ultrasound also revealed many blood clots in the deep veins of my legs. After I was released from the hospital, I started doing some investigating online. I started looking at the Marfan's website which I had looked at several times before. This time under the related disorder section, I saw something new. Homocystinuria was listed there. As I started reading about how it can cause strokes and blood clots, I became very interested. I called Stanford again and told them what I had read. They told me what blood work to have done, and to report back to them with the results. As soon as I reported my numbers to them, they immediately scheduled an appointment for me to be seen by one of their geneticists. This time I had genetic testing done which confirmed my diagnosis.

 

As others have said,I was put on high doses of B vitamins but I was found to be non responsive to that therapy. I then began taking Betaine and a special metabolic formula which supplies all the amino acids my body needs, except the one I can't process. I also began a very strict low protein diet. That has probably been the toughest part for me. I grew up eating anything and everything I wanted. My Mom was a gourmet cook, and I was used to going out to nice restaurants and eating whatever I chose. As hard as it is, I know it is something I will have to do for the rest of my life. I have already experienced some of the more scary aspects of this condition, but somehow I have been given a second chance and want to do everything I can to stay healthy. I have done very well on the diet and my numbers are now in the mid 20s. A far cry from where I started out at over 400!

 

I hope that by sharing my story, it will help spread awareness and inspire others who are dealing with this condition. Best of luck to Kristin in the marathon, and thank you for spreading the word for all of us.

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

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