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

Sunday, February 26, 2012


It's Sunday afternoon, and Hank has been making me laugh all day. I love the weekends with these kids. Life seems to be so easy and carefree when we are living in the moment!

Hank and his siblings Christmas 2011
2012 is well under way and time seems to be accelerating! So much has been going on, as with any busy family...but my involvement with Parry Romberg Syndrome continues to be a daily presence in my life.
Hank is doing well. He had some school issues in the fall, which seem to be resolved. He is happy and growing like a weed! He made Honor Roll last term and we had a wonderful Christmas and New Years with family!

 I worry about Hank...he doesn't want any more surgeries and at 10 1/2, he voices his opinion. It was almost easier when he was younger...he didn't know what to expect and he didn't really say much about it. But now? Well, he really wants to just move forward and he is not looking back.  I hate to tell him that he needs another surgery. I was hoping that he didn't...even though his surgeon, after looking at photos said he would need a procedure this summer...I hoped he was mistaken...

But today...UGH...Today, I saw Hank across the store...and as he walked up to talk to his Dad, I was startled to see that his face has changed a bit. I've been noticing the changes...but they are so subtle, and I see him every day... Sometimes I think he looks perfect....and other today...I just don't know!
Is it because he is growing? Or is it something else...Has the flap "slipped" a little? I do think he has some bone involvement, as his smile is a little more crooked...but I love that smile...! And Hank's eye looks a little droopy...I know it needs work...but do we wait until he goes through puberty or do we address it now? I don't want to wait until it's too late...but how late is too late? So many unanswered questions... That is what happens with a rare disease of unknown origins...unanswered questions...

But even with my worries and concerns...I know, without a doubt, that we chose the right course of treatment for Hank.  I can't even imagine what his life would be like right now, if we hadn't done the surgeries. Back when he was first diagnosed, I couldn't even imagine we would ever be where we are now and Hank would be the funny, confident, kind, handsome and energetic boy he is now! Although the surgery is not considered a "cure", it was the only chance we had to stop the progression...and with no other symptoms, things seem to be just as they should be.

Although Hank doesn't want to look back...he does want to help others. He has no problem talking to people about his PRS. We have been fortunate to be able to connect with other families with PRS and Hank willingly takes part. In November, I was contacted by a man who lives just two hours away. He was coming from his 5 year old son's appointment, where he had been diagnosed with Parry Romberg Syndrome. He was overcome with grief with the knowledge that the doctors they met with hadn't seen a case of PRS in 25 years. Feeling lost and needing to connect with someone who understood, I am happy to report that they found Hank and I! We talked for quite awhile and his wife was able to conference with us as well. I shared as much information as I could with them and listened to their son's story. I recounted Hank's story and surgeries...which are always emotional for me...and we shed tears together. I told them that since they lived so close, that we should meet when they are ready. I wanted them to see Hank and see how well he is have hope that there is "the other side" of all this.

The next morning, I saw that an email had come in at an early hour. "Are you available to meet? ...We will come to you." I quickly wrote back, "Of course!" This was a first for us and we were excited by the prospect of meeting someone who lives so close by! By 1:00 we were sitting at my kitchen table. Hank came in to meet them. He patiently let them look at his face. We talked about his surgery and he even graciously showed them the scar on his back. We compared pictures and talked about treatment options. But more than anything, I think we were able to give them some comfort and let them know they are not alone!

This is not an easy path we are on. I try to stay positive and look at how far we've come in all this. I don't dwell on  Hank's condition...I know he doesn't! His resolve and strength never cease to amaze me and I try to follow his lead. We are so lucky to have this little family of much joy and happiness in every day and laughter too!

We are so grateful for all that has been done for Hank...from his surgeries, to the support of other mothers of children with PRS, from friends and family and strangers too! This is defintitely not the life I would have chosen for my child...but it is the life we were handed and we embrace it willingly (what other choice do we have, right?)...being able to raise awareness in hopes of a cure...being the moral support for those going through it...and referring people to Hank's brilliant surgeon...

We have a possible lead on some research starting to isolate the cause of  PRS. If it comes to fruition, Hank will be a part of it. I don't want to say too much now...but am keeping my fingers crossed that it will happen! Please cross your fingers, too!


Wednesday, February 29, 2012 is Rare Disease Day. In the United States, a disease is considered rare if it affects fewer than 200,000 Americans. Parry Romberg Syndrome is thought to affect less than 1,000 people in the US. Now that is rare! According to the National Institutes of Health (NIH), there are approximately 6,800 rare diseases...and while each one is rare...together they affect nearly 30 million Americans...or almost 1 in 10 people, 50% of them are children!

This year, we want to help raise awareness for rare diseases...and call attention to the fact that much research is needed for treatment. Please join our family and friends in supporting Hank  by wearing GREEN on Wednesday February 29th. Green is Hank's favorite color and he would love to know that there is a sea of green out there, just for him! "Alone we are rare. Together we are strong."