The story of Amy
I have been a diagnosed rare disease patient for more than 30 years now. My name is Amy and I am a rare disease patient & advocate. My passion is spreading awareness of
my rare disease so that more doctors & nurses can correctly diagnose patients.
I have a Urea Cycle Disorder called Ornithine Transcarbamylase Deficiency (OTC). The prevalence of OTC is 1 in 50,000 births. OTC is one of six enzymes that play a role in the break
down and removal of nitrogen the body, a process known as the urea cycle. The lack of the OTC enzyme results in excessive accumulation of nitrogen, in the form of ammonia
(hyperammonemia), in the blood. Excess ammonia, which is a neurotoxin, travels to the central nervous system through the blood, resulting in the symptoms and physical findings associated with OTC deficiency. Symptoms include vomiting, refusal to eat, progressive lethargy, and coma.
I was diagnosed with this rare disease at age 12 after falling into a coma while on vacation on Chincoteague Island, VA. I was airlifted to a hospital in Salisbury, MD and then airlifted again to Johns Hopkins in Baltimore, MD. Johns Hopkins is where I was diagnosed with OTC Deficiency by Dr. Saul Brusilowe. I spent 3 weeks in the hospital because the medication I was put on at the time was not FDA approved so I was part of a clinical trial.
I have had symptoms of OTC Deficiency since birth but as this is such a rare disease nobody knew what was wrong. I used to get very bad headaches. I also used to vomit if I eat high protein food like shrimp. I was also very tiny for my age and I was always the smallest kid in my class. I was less than 60 pounds when I was diagnosed at age 12.
Research is very import for rare diseases. I have taken part in several research studies over the years. They are always very interesting and informative.
Treatment has come a long way since the beginning when I was taken more than 30 pills a day. Now I just have to take an oral medication three times a day and follow a low-protein diet
of 40 grams of protein a day.
Currently, I am being followed by a metabolic geneticist at Strong Memorial Hospital. My geneticist is even a professor at the University of Rochester. I have spoken to his first year
genetics class about my disorder several times.
My rare disease is just part of who I am but has to be taken into consideration in almost every aspect of my daily life. I cannot travel without making sure I have my Emergency Letter
with me, which gives instructions to the ER staff if I end up in a metabolic crisis while traveling. I also don’t drive so that affects my everyday life.
I have a full life in spite of my rare disease. I work full-time at the Town of Henrietta as the Administrative Assistant for the Engineering Dept. I live in Rochester, NY with my husband and
Jack Russell Terriers.
I am currently serving as Secretary for Remember the Girls. Remember The Girls, whose mission is to raise awareness of the many issues facing female carriers of x-linked genetic disorders, such as OTC Deficiency. You can learn more about this organization at www.rememberthegirls.org.
If you want to learn more about Urea Cycle Disorders, please visit the National Urea Cycle Disorders Foundation (NUCDF) website at www.nucdf.org or the Connecting Families UCD Foundation website at www.ucdfamily.org.
I spoke at an NUCDF conference in the past and I have attended a Connecting Families meet-up and written articles for their blog.
I use my Instagram to connect with other rare disease advocates and help spread awareness. My Instagram handle is @ucdzebra_amye.