Renee Columbus
BBH 297C
Homework
#3
April 2, 2003
I found my person on the Cystinosis
Foundation website. This website is wonderful because it lists names and email
addresses of many people with Cystinosis. The website also tells you anything
that you will ever need to know about Cystinosis. This how I found Barry Beard.
As I scanned through the list of people, I stumbled across a guy from
Harrisburg, PA. I proceeded to email him and was extremely pleased that he
actually replied. I explained to Barry who I was and why I needed his help.
After a few days, we set up a time for me to call him.
Cystinosis is
caused by the defective transport of the amino acid cystine out of the
lysosomes. Accumulation of this cystine causes multiple organ damage with renal
damage being the most prevalent. Common symptoms include: retarded growth, poor
appetite, and urinary losses of electrolytes, glucose, phosphate, and amino
acids.
Barry Beard is 27 years old. He was diagnosed with Cystinosis at
11 months of age in Harrisburg by Dr. Brent O'Connell. Barry would eventually
have to visit many different physicians. Dr. Yudcoff from Philadelphia
Children's Hospital was the most helpful to Barry. He was very knowledgeable
about Cystinosis at a time when little was known about the condition and
emphasized the importance of taking the medication. Dr. Yudcoff got Barry
started on an experimental drug called cystayamine when he was 3 years old.
Cystayamine assists in the removal of extra cystine crystals from the body.
Barry took cystayamine and many other medications until he was 20 years old. He
then started taking cystagon, which he still takes now. When Barry was 15 years
old, Dr. Yudcoff recommended a growth hormone for him because he was 4'7" and
wished to be taller. Barry was then referred to Dr. Wassner at The Milton S.
Hershey Medical Center. The growth hormone helped Barry achieve a height of
5'2" at age 17. In 1998, however, Barry's kidneys started to fail. He started
dialysis that year and ended in 1999 when he received a kidney transplant. The
surgery went well, but Barry was in a lot of pain. He was released from the
hospital eight days later. After the transplant, Barry started working out and
lost 48 pounds. He also had much more energy than he had prior to the surgery.
Since his operation, Barry became involved with several organizations.
One of which being the U.S. Transplant Games which were very inspirational for
him. The Transplant Games are like the Olympics for people who have had organ
transplants. The youngest participant in the games was 3 years old and the
oldest participant was 81. Barry competed in the softball throw and table
tennis. He is also actively involved in an organization called Gift of Life.
The Gift of Life organization sponsors people at the Transplant Games.
Volunteers from Gift of Life speak to the public about the importance of organ
and tissue donation. Barry feels that the media should be more involved with
organizations such as these so that the public will realize the importance of
organ and tissue donation.
Barry feels that the best advice to give a
person with Cystinosis is to always take the medication. Barry's parents were
very persistent with him when he was a child to take his medicine. He wants
children and their parents to be aware of the importance of taking the
medication in order to survive. Barry's parents were very supportive and always
made sure that he received everything he needed during his life. Barry now
lives a normal life. He works for the state government and takes his medication
everyday. His goal is to increase awareness of his condition and the importance
of organ and tissue donation.
I have learned a great deal from Barry.
He did have many of the symptoms of Cystinosis that I read about. The biggest
obstacle for Barry was the slow growth. With the growth hormones, he managed to
reach a height of 5'2", but this still posed some problems for him. He became
shy in high school because he worried that girls may not want to date a short
guy. Barry also told me that he was slightly overweight before his transplant
surgery. This did not correlate with my findings which stated that patients
with Cystinosis have a poor appetite. Barry did, however, have trouble
swallowing, which is another symptom of Cystinosis. With respect to the
autosomal recessive inheritance of Cystinosis, Barry's parents decided not to
have any other children because of their 2 in 4 chance of having another child
who is a carrier of the gene. Thus, Barry is an only child. There are no other
people in his family with Cystinosis.
In conclusion, I have gained a
great deal of knowledge about a genetic condition that I previously knew
nothing about. This project has benefited me by opening my mind. Barry taught
me the importance of awareness. The problems that Barry has experienced
throughout his life make my problems look trivial. I am very grateful to him
for allowing me to learn about his personal life and experiences. Finally, I
have learned the importance of sensitivity and support, which will benefit me
for the rest of my life.
Renee Columbus