Today is International Rare Disease Day and more than 40 countries worldwide are participating in events that will bring more attention to more than 7000 rare diseases.
As you know, our youngest son Corrigan was born on May 28,2008 and was diagnosed with a life-threatening disorder called Citrullinemia at one week old. I’ve blogged about Corrigan’s disorder many times, often specifically for a Rare Disease event, over the years.
Here are some links to other blog posts about Corrigan and his Urea Cycle Disorder…
…and my most recent post leading up to Rare Disease Day is here.
Of course, Corrigan’s disorder permeates the majority of my posts and you can always learn more by using the “search” option on the right side of the blog and entering “Citrullinemia” for more posts about our day-to-day living with a Urea Cycle Disorder.
You can learn more about Citrullinemia at the National Urea Cycle Disorders Foundation page . It is a wealth of information for those affected and their families.
Today I want to talk about awareness. At around 3 days old Corrigan was very sick but no one really knew why. All of those years in medical school, with likely only the briefest mentions of specific rare diseases, does not prepare a doctor to quickly identify a potentially rare problem. Most doctors, when presented with the symptoms of early onset UCD assume that it is sepsis, or maybe a seizure disorder. Newborn Screening for Citrullinemia is now in every state, and is absolutely saving more and more lives, but often these sweet babies become sick before the results are returned and crucial time is lost while the doctors try to find answers. One of the hardest posts I have ever written discusses what happened with Corrigan as he laid, undiagnosed, for over 4 days. His precious brain was bombed by elevating ammonia and his doctors didn’t have any idea it was happening.
This didn’t happen in a quiet, rural hospital with little experience but in renowned University facitlity with State-of-the-Art equipment and world-class Physicians. The ball was dropped because the doctors were not aware (and neither were we) and you can read about it here.
So I want you to be AWARE. I want you to remember that your instincts should be respected. I want you to remember so that if one day your co-worker, your daughter, a friend from church, have given birth and you hear that the baby is not doing so well…that the baby isn’t eating, he is vomiting, she won’t open her eyes much (or at all), if that sweet baby is rolling his tongue or seems very hard to wake…remember three little letters.
U C D (Urea Cycle Disorder)
Yes, I know. They will roll their eyes at you. Either right in front of your face, or at the very least as they walk away. They will chastise you for using Dr. Google to diagnose your child. They will insist that the chances are so very slight and that we have only seen one of those cases in 45 years. And honestly, chances are it won’t be a UCD. Chances are your baby is fine, maybe exhausted from birth and nothing else but trust your instincts. Remember this blog and speak up. Ask them to consider testing for a metabolic disorder. Speak up.
From the NUCDF website (visit the site for information on childhood and adult onset)
THE NEONATAL PERIOD: Children with severe urea cycle disorders typically show symptoms after the first 24 hours of life. The baby may be irritable at first, or refuse feedings, followed by vomiting and increasing lethargy. Soon after, seizures, hypotonia (poor muscle tone, floppiness), respiratory distress (respiratory alkalosis), and coma may occur. These symptoms are caused by rising ammonia levels in the blood. Sepsis and Reye’s syndrome are common misdiagnoses. If untreated, these severely affected infants will die. Severe neonatal symptoms are more commonly seen in both boys and girls with OTC and CPS deficiency, but can also occur with citrullinemia or argininosuccinate lyase deficiency (ASA lyase)
We are fortunate. We still have our beautiful boy and while he has challenges related to that neonatal impact, and delay in treatment, he is thriving. He is happy and brave and doesn’t have a single clue that he is in any way different from anyone else. He lives with a rare disorder. Let me repeat that…he LIVES with a rare disorder…and thanks to the hard work of the National Urea Cycle Disorders Foundation, and others, there is a new drug so close to FDA approval that could improve lives for those that are diagnosed with a UCD. This drug is not a cure, in fact there is no cure for Corrigan’s disorder but it is a treatment and we are hopeful that its approval will come soon.
We are very fortunate that in the late 90’s an orphan drug was approved that helps those with Urea Cycle Disorders live longer lives by better controlling ammonia and that this new drug could change the game even more. There are so many rare disorders out there that have nothing on the market and nothing at all on the horizon. They do not have medicines specifically for their disease. There are no treatments, there are no cures, there are no new medicines being made to help those affected. I cannot imagine that feeling of hopelessness.
But with events like today, International Rare Disease Day, people all across the world are hearing about rare disease! They are hearing names like Niemeann Pick Disease Type-C, Marfan Syndrome, Creutzfeldt-Jakob disease, Batten Disease, Duchenne Muscular Dystrophy , Epidermolysis Bullosa and Cystic Fibrosis.
Social Media allows thousands of people to join together to shine the light brighter for those living with rare disorders, for those that feel hopeless. The motto is so simple, yet so profound and full of truth…“ALONE WE ARE RARE, TOGETHER WE ARE STRONG!”
My family stands in love and support of the more than 350 MILLION people worldwide that are living with, and fighting for hope, for their rare situation. You are all a blessing, each and every one of you. This journey has a purpose and you are NOT alone.
If you are so inclined, would you please visit a few of these pages supporting International Rare Disease Day?
And on the right of this page is a list of Urea Cycle Disorder blogs. These are families, like ours, that are sharing their experiences living with UCD just like I do here with Corrigan’s story. When you put your story out there, you hope that it isn’t just echoing out there in the darkness of the world wide web. Could you visit and leave them a comment? Let them know that their story is being read…that their words are not in vain?
And finally, these posts are always so hard to write for me. Each time I talk about Corrigan’s start in life, it dredges up so many feelings of fear, sadness and anger and it takes me a good day, or more, to shake it off. I am not the best advocate for our disorder, nor am I any kind of authority, but I am passionate that our story needs to be told…both the good parts and the bad. I’d like to share some photos today that I haven’t shared before. I’ve never printed them, never posted most of them and honestly, I don’t even like looking at them but they are part of our story. The pain from those first few weeks has shaped these last three years and while it is not something I would EVER wish on anyone, it has made us so thankful for each and every day. There are no guarantees of healthy babies or happy endings but nearly losing Corrigan has made us better people with an appreciation for the smallest of victories.
Thank you so much for reading, if you made it this far, and for loving our family. Please continue to keep Corrigan in your prayers, as you know this is something he will have to fight against his entire life, but please also pray for the millions out there that you do not know who are waiting for their miracle.