Game Changer

Hank is almost 13...in just 2 months, he will be a teenager...and he already looks like one! Hank has grown at least 5 inches in the last year...going from little boy to young man overnight! And nothing reminds me more of this, than the fact that Hank is starting to want to know and have some say about his medical care.



L: Easter 2013, R: Easter 2014

After Hank's last surgery in October 2012, Jeff and I told Hank that "this is it...no more surgeries unless medically necessary or if you ask for it." Here we are a year and a half later and faced with the knowledge that more surgeries are in his future. Hank is scheduled for surgery this June in Madison, with Dr. Siebert. I have known for a few months, but didn't want to tell Hank until he got through all his big projects at school. But this week, push came to shove and I had to tell him.

Waiting Room with a view!

We are up in San Francisco right now...after having gone to UCSF for an appointment with an ocular plastic surgeon. Hank's eye looks like it is falling...so Dr. Siebert referred us to a doctor in SF for a consult. I don't know what I expected...but what I got...was NOT what I expected! In all honestly, I was supposed to bring Hank here a year ago! But after just having a surgery, I couldn't bear to take him to yet another doctor...so I dragged my feet until I HAD to go...but I wanted to make sure before heading to Madison for surgery, that we had all the info.



Always a smile on his face!

The good news is that Hank's eyesight is pretty normal (although, he could benefit from glasses...which makes glasses-wearing-little-brother-Charlie, quite happy!)..and Hank's left eye is just a millimeter lower than his right eye...which is just where most people are. So what we are seeing is not Hank's eye "dropping" but his lower eyelid being pulled down. What is less than happy...is the theory is that his bones have been affected...and after the doctor had me place my hands on Hank's cheekbones, I know he is right. The right cheekbone is where it should be...the left is flat...the bone has deteriorated.

After examining Hank, the doctor told us, "I don't think he has Parry Romberg Syndrome." WHAT? How is that statement even possible? I pointed out that two doctors at UCSF diagnosed him with PRS over 5 years ago, as did our pediatrician and Hank's surgeon! He pointed out that Hank does not have "en coup de saber" which is the indentation of the forehead. I told him not everyone manifests that way...and then he said that PRS only affects soft tissue and not bone, and yet clearly...Hank's bone has been affected. Again, I explained that Hank had a micro-vascular free flap tissue transfer 5 years ago and then 3 revisions, so of COURSE his tissue would look good! At that point, the doctor, turned and looked at me, "You have obviously done research, and probably know more about this disease than I do..." (which reversed the opinion of him that I was quickly forming..) 

So here's the bottom line....This doctor thinks Hank needs bone surgery....either a bone graft or a surgery to move the bones forward. He wants Hank to come back and see the cranial team....the facial plastic surgeons, to have an MRI or CAT scan, depending on what those doctors think, and then to come back and see him in 2 months. But in less than two months, we are supposed to be in Madison, Wisconsin, where Hank will be undergoing surgery to raise the tissue up around his eye and debulk his cheek. ARGH!!!

"Hank is scheduled for surgery in two months!" I exclaimed, "What do we do? Go forward or wait? I don't want to put Hank through another surgery that won't work!" The doctor said that the tissue lifting is just to mask what is really happening and would turn out much better with the bone addressed first. Now here is where my heart breaks...I KNOW what this surgery is...I have been afraid of this surgery for years, and have been PRAYING that Hank would avoid it. But the fact is, our friend, Kyle, in Connecticut had to undergo this surgery when he was 17. His family flew out to UCLA for it, and I remember his mother Patty, telling me how terrible it was. Hank was just 8 at the time...and that seemed so foreign to me...but in the back of my mind, I have never forgotten her words..."Worst surgery he had ever been through...and the recovery was horrible"... I remember the photos of the aftermath, and her telling me how angry and miserable he was....

Hank is happy....he thinks the bone surgery will be better than the tissue surgery, "I am OK with it as long as I don't swell like I do after the other surgeries..." Ahh....ignorance is bliss!

We left that appointment with Hank in good spirits and Jeff glad to have more info...but my stomach is in my feet and I feel lost. We had a plan...I liked our plan...with a doctor we know and trust. A doctor who understands the pathology of the disease. I know this new doctor is knowledgeable about his field...but this feels like it's a bit foreign to him...and I don't like it.

After a beautiful dinner at our favorite San Francisco restaurant, Scoma's...and a much needed drink or two...I once again have put this in God's hands. I can't worry about it...I know the path will unfold and we will follow it, just like we have in the past. (OK, who am I kidding....I will still worry about this 24/7)

I sat down this morning to send a note to Dr. Siebert, and to ask him to call this doctor. Halfway through the email, my cell phone rang and on the other end was the tirelessly upbeat voice of our favorite doctor, Dr. Siebert!! What a relief! We had a long conversation...he reminded me that we have known about the bone...and that we have been just doing the best we can with the tissue...(I think I have been in denial about that). He is going to call this doctor, mull it over and call me on Monday to come up with our game plan. I love that he asked what Hank thinks...which I replied, "That he never wants another surgery!" and he asked if Hank's eye hurts, or is red... I believe he is trying to determine severity of his eye...

So now we wait...to hear from Dr. Siebert...whether we go forward here at UCSF or south to UCLA, I think we have a couple of months of doctor appointments and tests. I don't know if we will end up in Madison or not...which is a killer, since we had planned to meet our friends from Atlanta in Madison, where Hank and Kristina would undergo their surgeries on the same day...giving two kids with PRS a chance to hang out...and two moms and dads a chance to connect in REAL life with people who understand EXACTLY how they feel!

Please keep Hank in your prayers...I continue to pray for a miracle and hope for a cure! In the meantime, we are heading out to have some fun in San Francisco and join some friends for tonight's Giant's game! Life continue's on...and we will continue to meet each hurdle head on...together...!

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 worldwide...it 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 understand...in 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 PRS...it 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 www.rarediseaseday.us