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McCune-Albright syndrome

McCune-Albright syndrome, described in 1937 by McCune and Albright, is a disease where two of the three following features are present:

  • (autonomous) endocrine hyperfunction
  • Fibrous dysplasia
  • CafĂ©-au-lait spots


The endocrine aspect of the disease can manifest itself as extremely premature puberty.

Genetically, there is a post-zygotic mutation of a gene involved in G-protein signalling, preventing downregulation of cAMP signalling.

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How swimming has influenced my life
From Swimming World and Junior Swimmer, 11/1/01 by Gilmore, Lucy

ATHLETES' CORNER

Lucy Gilmore, 17, a disabled swimmer from Radford, Va., recently won the grand prize of the Goodwill Games Ambassador program, which included two round-trip airline tickets to Brisbane, Australia to attend the opening ceremonies and swimming events of the Goodwill Games, Aug. 29 - Sept. 3.

Lucy received a complimentary six-- night hotel stay, $1,000 spending money, a $2,000 educational scholarship and USA athlete clothing apparel. She also was announced to the crowd as the Ambassador to the United States for the sport of swimming, was introduced with the American team as it entered the natatorium and sat on deck with the U.S. team.

Lucy competed against 481 other athletes in the swimming category. They were required to write an essay on how swimming has influenced their lives. Essays were judged on inspirational qualities, relevance to swimming and originality. Following is Lucy's winning essay:

Hi, my name is Lucy Gilmore. I have it la rare disease called McCune Albright's Syndrome. Multiple fractures and bone deformity are some of the disease's characteristics. I was diagnosed with this disease at the age of 3-1/2. I had fallen off my tricycle, and my mother took me to the doctor for testing. At the time of diagnosis, there were only 30 people in North America with this disease.

I soon became a research patient at the National Institute of Health (N.LH.) in Bethesda, Md. Due to the bone disease, I have fractured every bone on the right side of my body-femur, arm, leg, fingers, toes, ribs...and all many times. Before the age of 7, I had undergone three surgeries of my right femur.

The summer after kindergarten, when I was 6 years old, I joined the summer swim team. My mother got me into swimming because she knew it was the only sport I could do and stay safe. I was excited because I was able to participate in a team sport.

At age 8, I fractured my femur while playing soccer in my back yard. Several days later, I underwent another surgery in my right femur. Shortly after recovery from surgery, I joined the year-round swim team. This is when I began my career as a swimmer.

Although I was somewhat slower than my competitors, I managed to win a ribbon every now and then.

By the time I reached fourth-grade, I was still swimming competitively, but my disease was progressing. While at a swim meet, I was playing dodge ball in between events, and I caught the ball, so I threw it as hard as I could. I ended up fracturing my arm, preventing me from swimming for several months.

While in fifth-grade, my disease continued to progress, and I underwent surgery to remove an aneurysmal bone cyst from my skull. This is another component of the disease. But several weeks later, I was back in the water swimming with the rest of my team at one of the many YMCA meets that I have been attending every year since then.

I had more surgery in the sixth-- grade. I underwent a spinal fusion to correct a 45-degree curvature of my spine due to the weakness of my bones. There are currently two steel rods clamped to my spine. The following year, I had two more surgeries to correct the femur in my right leg.

Expanding Opportunities

Several months after the surgeries, I was back in the water. I became aware of the National Disability Championships to be held in 1998-the first-ever national meet for disabled athletes. This is when I realized there was an opportunity for me as well as other disabled athletes to accomplish our goals. So I started to attend morning practices and began to train harder.

I attended the meet that summer and earned one silver and four bronze medals. I also qualified for the 1998 International Paralympic Committee (IPC) World Swimming Championships in Christchurch, New Zealand.

That summer before going to Worlds, I trained four hours a day. My local swim team helped me and my parents by participating in a swim-a-thon to raise money for the trip. Also, the community helped by donating money.

Shortly after arriving in New Zealand, I fractured my right leg while jumping in a shallow pool the day before my first race! But I swam anyway and placed eighth in the 400 meter freestyle.

After a month of recuperation, I began training for the 1999 National Disabilities Swimming Championships in Minnesota, where I won four medals.

The next summer, I attended practice on a regular basis, four hours a day. In the fall and winter, I continued to train for two to three hours a day for the 2000 Paralympic Trials. In May of 2000, just a month before Trials, I fractured two ribs while at practice. However, I continued training and attended a training camp in Warm Springs, Ga., for one week.

About a week before the Trials, I also injured my right arm, but I still managed to swim. I earned three medals at that meet, but I was disappointed that I didn't qualify for the U.S. Paralympic swimming team that went to Australia.

I continued to swim and train for the 2001 National Disabilities Meet in Phoenix. I medaled in all six of my events, and I almost captured the gold in the 200 meter backstroke, missing by just 1-tenth of a second. And sure enough, several days before that meet, I broke my right leg, but I still swam.

Future Plans

I am currently a senior at Radford High School in Radford, Va., and I plan to attend college next fall. I would also like to swim at the college level, and I am just now beginning my search for a college and swim team coach.

I am still a research patient at the N.LH., hoping to find a cure for my disease. I will continue to train for the IPC World Swimming Championships to be held in the fall of 2002, as well as for the 2004 Paralympics.

As you can see, swimming has positively influenced my life. In many ways, it has made me a mentally and physically stronger individual. It has taught me that if you keep working toward your goals, you will achieve them-and your dreams will become reality.

Swimming has also taught me that it doesn't matter how fast or how slow you swim; there will always be a place for you.

Copyright Sports Publications, Inc. Nov 2001
Provided by ProQuest Information and Learning Company. All rights Reserved

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