It is my pleasure to write today on behalf of both the R.A.R.E. Project and the Global Genes Project. Today begins the countdown to World Rare Disease Day, on February 29, 2012, which brings attention to the more than 7,000 rare diseases in the world.
My youngest son, Corrigan, was born with a rare genetic disorder called Citrullinemia. His specific disorder is one of six Urea Cycle Disorders and affects 1 in 57,000 births worldwide.
According to the National Urea Cycle Disorders Foundation website, a urea cycle disorder is…
“…a genetic disorder caused by a deficiency of one of the six enzymes in the urea cycle which is responsible for removing ammonia from the blood stream. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is removed from the blood and converted to urea. Normally, the urea is transferred into the urine and removed from the body. In urea cycle disorders, the nitrogen accumulates in the form of ammonia, a highly toxic substance, and is not removed from the body resulting in hyperammonemia (elevated blood ammonia). Ammonia then reaches the brain through the blood, where it causes irreversible brain damage, coma and/or death.
Urea cycle disorders are included in the category of inborn errors of metabolism. There is no cure. Inborn errors of metabolism represent a substantial cause of brain damage and death among newborns and infants. Because many cases of urea cycle disorders remain undiagnosed and/or infants born with the disorders die without a definitive diagnosis, the exact incidence of these cases is unknown and underestimated. It is believed that up to 20% of Sudden Infant Death Syndrome cases may be attributed to an undiagnosed inborn error of metabolism such a urea cycle disorder.”
Corrigan was born full-term and considered “healthy” on May 28, 2008. He was greeted with love and instant adoration by his older brother, Connor, in our little hometown in Western Maryland. Aside from difficulty feeding, there was little indication that there was a problem. Hindsight being 20/20 they say, looking back we see the symptoms much clearer. Corrigan vomited nearly every feed yet the nurses smiled patiently at us and explained it was simply “reflux.” He was unable to fully open his eyes, but we thought he was just a little light sensitive. I was alarmed when I followed Corrigan into the hospital nursery for his circumcision and noticed that nearly all of the other newborns, some even more “new” than Corrigan, had their eyes fully opened. We felt silly bringing it up and simply turned down the lights and closed the curtains in our room.
He was in obvious distress at every feed and his tiny tongue made a repetitive, circular motion that later was the catalyst in determining that something was amiss. In addition to a jerking motion of his left arm, the tongue movements indicated seizure activity and earned us a fast pass out of our local hospital and to another NICU in West Virginia.
Corrigan began showing most of these symptoms on day three of life and by day four he had slipped into a coma. He was in the out-of-state N.I.C.U. for four long days, undiagnosed, while the excess ammonia built up in his bloodstream and damaged his brain. He was then transferred back into state on his eighth day of life and was finally diagnosed with Citrullinemia by the metabolic team at Johns Hopkins Hospital.
After life-saving hemodialysis and potent rescue meds, Corrigan awoke and began to recover from his neonatal crisis. His doctors put him on a very protein-limited diet, and with medication and therapy he was able to finally come home 22 days after he was born.
Corrigan is now 3 1/2 years old and has been hospitalized more than 15 times for hyperammonemia (elevated ammonia) and has received a mediport implant to make blood draws easier and a g-tube to help with nutrition because he doesn’t have the same hunger cues as most people do. He had been remarkably stable, making it 2 years and 3 days between hyperammonemic events, but has recently become a bit of a mystery in the last half-year as his numbers have been resistant to attempts to regulate and his standing daily ammonias have been much higher than we would like. Two weeks ago we enrolled Corrigan in a FDA clinical study for a new drug that has, so far, nearly halved his standing ammonia numbers and has less side effects than his old medicine.
A liver transplant would rid the disorder from Corrigan but is not yet something we feel is right for him at this time. His team at Johns Hopkins, as well as his new friends at DC Children’s National, have done a wonderful job managing Corrigan’s disorder and allowed us to keep him healthy with diet modification and medication alone, but we never rule out the possibility of a liver transplant for Corrigan.
Due to his neonatal crisis, Corrigan has struggled to reach his milestones and receives therapy and special education but is such a bright light in our world. The obstacles in his life have tested him but time after time his brave spirit overcomes his pain and we are so thankful for every moment we have with our sweet boy. This journey, while difficult, has been full of blessings.
While our lives have been irrevocably changed by this diagnosis, so have the lives of over 350 million other people, worldwide, that receive the heart wrenching diagnosis of rare disease. Before the advent of the internet, folks with rare disease often felt alone and isolated from the world and the world was unaware of the struggles that these families were living. Now families are able to gather online for information and support and organizations are getting the word out about rare disease to the masses.
We are spreading the word now, 30 days before World Rare Disease Day, because the number 30 is significant. Nearly 30% of children with rare disease will die before their 5th birthday and over 1 in 10 Americans are affected by rare disease. That is over 30 million Americans alone, which is more than the TOTAL number of people living worldwide with cancer!
There are more than 7,000 rare diseases and some of those diseases are so very rare that they affect fewer than 100 people. 75% of rare disease affects children. Almost 80% of those disorders are genetic (as is Corrigan’s disorder) and they are chronic, life threatening and often fatal. There are no cures for any rare disease (yet!!!) and only 5% of the rare diseases have any type of treatment.
Help unite 1 Million for RARE on the Global Genes Project Facebook page so that we can increase awareness to the rare disease community! You can also participate in the “Wear That You Care” campaign that encourages folks to wear jeans on February 29, 2012 to call attention to the rare genes that cause the rare disorders! Include your schools, sports teams, places of worship, friends, family and coworkers to wear jeans in support and post photos to the Facebook page.
Are you crafty? Donate a handmade bracelet to the 7000 Bracelets for Hope Campaign that sends these treasures to families living with rare disease as a sign of friendship and hope. We received our bracelets a little while back and they were beautiful. It is a bright pick-me-up in the midst of the daily stress and struggles of living with rare disease and so appreciated by each family that signs up to receive a bracelet!
Do you have any ideas on how to show support for the rare disease community? If you do, please share with us
Post on Facebook at Facebook/glocalgenesproject
or Tweet with us via @GlobalGenes #1Mil4RARE
If you are unable to click through (I’m sorry) please click through to the R.A.R.E. Project blog for a great post and a link to all of the participating bloggers!
Alone we are rare…but together we are strong!
If you are living with rare disease, and you have a blog, please leave me a link to your site in the comments below. I would LOVE to learn more about your rare condition and would love to add your blog to my sidebar so that others can come over and learn more too!