Wednesday, February 29, 2012

The Difficulty of a Rare Disease

Imagine if you were told you have a rare disease. One that is so uncommon that there isn't much information about it. Suppose the doctor tells you to go home and "Google it" because that is where he is getting his information! What if he told you that there is no cure and the cause of the disease is unknown.  Now imagine it is your child that has been given the diagnosis!

30 million Americans have had this happen and 50% of them are children. Seems like a big number...but when you consider there are nearly 7,000 rare diseases..the number of people with a specific disease drops. Being told your child has a rare disease is mind-numbing. Being told that they don't know the cause and there is no cure is terrifying. And watching your child suffer while you stand helplessly by, throws you into a black void.

Hank and his siblings standing together in support of all those with PRS and other rare diseases!
Hank has Parry Romberg Syndrome. A disease that causes "hemi-facial" atrophy and neurological issues. In essence, it causes half the face to "waste" away. It can cause seizures, migraines, bone loss, blindness, tooth loss, migraines, ADD, ADHD and strokes. With less than 1,000 cases is extremely rare.
When  Hank was diagnosed in 2008, my family spent hours upon hours, searching the Internet for help, calling doctors, talking to friends...looking for someone who knew something! It was a horrifying and lonely time. Knowing that our 7 year old's face was changing...that his cheek was nothing but skin and bones...was the scariest time of our lives.

Hank's Dad wearing green for Hank!
Being the parent of a child with a rare disease can be isolating. No one else can really understand what you are going through. As hard as it is for us to accept what is going on...I have found it is harder for other people. When people ask what the prognosis is...we answer, "I don't know." When they get a confused look on their face, we respond..."No one knows." It's a hard concept to this day and age of modern medicine...why don't we know?  Even now, with Hank...he has had three surgeries, and is doing well...and when people ask how he is...I say "fine". But when they ask if he will need more surgeries...I don't know! That's the thing...I don't know! I wish I did...but I have no idea...I am seeing changes in his face...he needs a surgery...will he need another one after that? I don't know! I hate not knowing!

PRS mom and friend, Milly, shows her green and her support!
Today is Rare Disease Day 2012.  Rare Disease Day is about raising awareness worldwide of the common challenges and experiences faced by rare disease patients and their families. It is a day of talking about rare diseases...about getting it out in the open. It's about raising awareness...and acceptance for those suffering with a rare disease. It is about research...and generating interest and funds for research.

Having a diagnosis of Parry Romberg Syndrome is difficult...because no two cases are alike! I can't compare Hank to another child...because I don't know if their symptoms will be the same. Some have tissue involvement...some have tissue and bone. Does Hank have bone involvement?...I don't know! And trying to figure out why they all have is a never-ending puzzle...some have similar experiences prior to the on-set of symptoms...all little clues...but we need someone to put it all together!

I am passionate about raising awareness for Parry Romberg Syndrome, in hopes of a cure...and in knowing the cause! We are so fortunate to have the Internet and places to connect online, like "The Romberg Connection." I am grateful for the other families, like mine, who are doing what they can to figure this disease out, to share information, to search for treatment and to support one another.

Green is Hank's favorite color. In honor of Hank and Rare Disease Day, we ask people to wear green today. Talk about this today with your family and friends. Share about this day with your coworkers and go online and look at the Rare Disease Day website. It's only through education and sharing information, will we make a difference!
"Alone we are rare...together we are strong."

You can support Rare Disease Day 2012 with just one click! Go to the RDD US site and click on the "Raise Your Hand" icon in the center of the page! By raising your hand, you have just shown your support for the 30 million Americans who are affected by rare diseases. Thanks to you, Lundbeck will donate $1 to rare disease research!
Click here


  1. Oddly enough, I AM wearing green today though this is the first I have heard of your brave boy, Hank. I came over from your link on the Global Genes page. It is mind-boggling how many rare diseases are out there-so many have little, or no treatments or research. I pray that your family finds a cure for Hank all others that live with Parry Romberg Syndrome!

    Mindy (fellow rare disease Mom that blogs at

  2. Thanks Mindy! Nice to make contact with another rare disease Mom! I will be checking out your blog! :)