Monday, March 30, 2009

New York...Finally!

We've been back from New York now for a little over a week, and already it seems like it was ages ago! Can't believe we've been there and back and now we have a plan. It's such a relief and yet, now reality has set in. Our child really has a rare disease! We had to go clear across the country to find the right doctor...

The trip was all we hoped it would be! We landed in New York Monday night. Tuesday we spent adjusting to the time change, seeing the Empire State Building, Times Square and acquainting ourselves with Manhattan.

Our appointment was Wednesday morning. We were SO ready! We met with Dr. Siebert for about two hours and for the first time since Hank's diagnosis 5 months ago, we found ourselves speaking with a doctor who spoke to us with confidence and knowledge about Parry Romberg's Syndrome. What a new experience for us...and what a relief!

Dr. S. spent a long time just looking at Hank and talking to him. He really put all of us at ease. No poking, no prodding and no talking down to Hank. He told Hank that he had some slight differences in his face. That one cheek wasn't as full as the other, that his lip was a little thinner on one side, etc. (I was freaking out that he was telling him all this!) I was worried about Hank's reaction , but Dr. S. explained that he, too had a thinner lip and everyone has something different about them. He told Hank that we don't know why he has these differences but it was OK because he could fix them.

Hank seemed fine with all this and hasn't mentioned it at all. Jeff and I think that Hank has probably noticed these things in the mirror and is now relieved that someone else sees them too. That is one thing about this might not be noticeable when you are just looking at someone with PRS, but then if you see them in the mirror, the changes are obvious. It's because it is easier to see in two dimension than in three dimensions.

Dr. S. explained the surgery to us, which is essentially a tissue transfer...removing the infected tissue, replacing it with healthy tissue and healthy blood vessels. Thus changing the biology of the disease and stopping the atrophy. I asked if the atrophy could start somewhere else in the body or if it was in the blood system. He explained that it was "localized" and would not show up elsewhere.

The surgery is a 6-8 hour procedure. We are scheduled for July! Looks like Hank will miss the fourth of July festivities this year, since we will need to be in NY for almost 2 weeks. I was feeling bad for Hank, but then I remembered that he really doesn't like fireworks...too loud!

So, we have a finally have a plan! And now we start stage 2...figuring out costs...what will insurance pay for? How much will housing be? How do we leave the 2 little ones behind for 2 whole weeks? Will Jeff's business survive without him while we're gone? Lots of questions, lots to do, but I know we will figure it out!

Saturday, March 28, 2009

New York Bound

As departure time grew closer, my excitement and apprehension grew. This was it! We were finally going to meet Dr. Siebert. I hoped he was all I thought him to be. Because really...ALL my eggs were in this one basket! I didn't have a Plan B...Dr. Siebert and naturopathic medicine. That was my plan. But I knew...So many people were praying for us... we had found Dr. Siebert for a reason... I had done my research... I knew this was going to work...!

With everything in place, we bought a few books about New York, studied maps, confirmed our appointment, made sight-seeing plans, wrote our list of questions for the doctor, packed Hank's supplements and his medical-info binder. We packed up our little one's things for their stay at Aunt Barbara's and everyone was ready to go.

The day before we left was Sunday. We went to church and I ran into a few ladies who knew us and knew something was going on with Hank. (yes, they had seen me crying at the healing mass...) I filled them in on what was happening and our trip to New York, and amidst the tears were lots of hugs and promises of prayers. As we left the church we asked the priest to bless us and our journey, which he did, and we headed for the car with light hearts and lots of hope.

And so Monday morning came and with the car loaded, we dropped the little ones off at school, into the waiting arms of their teachers who promised to love them even more than usual.

As we boarded the plane, heading for our connecting flight in Los Angeles, I said a quick prayer, asking for a safe flight. Hank had the window seat and was thrilled. This 7 1/2 year old was going on an adventure. And little did he know that this might just be the trip that could change his life!

Final Preparations

It's a daunting task to realize that your child has such a rare condition that you have to travel across the country to get help. I always wanted to go to New York...never did I dream that this would be the reason we would go. But I also couldn't believe our good fortune in finding Dr. Siebert and in my heart, I knew this was the answer for us.

The next few weeks were a whirlwind as we made plans to go to New York. We told Hank we were going to New York to see a doctor. Hank asked if he was an "expert" and I told him, "Yes, we were going to see a specialist who lives in NY." Hank was quiet and then started to cry... he said he didn't want anyone cutting into his face. My heart sank. How did he know? We hadn't mentioned surgery. But technically, there is no cutting INTO the face, so I honestly told him that he'd be OK, and no one would cut into his face.

Jeff thought we would do a "turn and burn" as he called to NY, see the doctor, fly home. Uh...NO...! I didn't want to fly our 7 year old across the country to NEW YORK and just see the doctor! Nope! This was going to be FUN! (but could we afford to have fun in NY?) And in Jeff's defense...for business reasons, he needed to make it a quick trip!

Jeff and I are the type of people that get hit with "Murphy's Law" all the time. You know..."if anything can go wrong, it will". But not this time...oh sure, Hank's illness and our financial situation would qualify for Murphy's Law, but our efforts to get to New York definitely changed our luck.

Things started to fall into place and it was as if divine intervention was propelling us along. Our brother-in-law (once removed), Bill, found us a friend's apartment to stay in, another friend who works for an airline, gave us a "friends and family" discount, my sisters and mom came up with a plan for caring for our two younger kids while we were gone, and Jeff's mom helped off-set the cost of the airfare. What? Things are going smoothly? Hurray! A touch of good luck! We could use some good luck!

Friday, March 27, 2009

Taking the Leap of Faith

Over the next few weeks I corresponded through email with Dr. Siebert. I also had two more phone conversations with him. I emailed him some photos of Hank and heard right back from him. He told me that he saw what I saw. That Hank had some atrophy, and he confirmed that it was indeed, Parry Romberg's Syndrome. Damn! I knew that, but I couldn't help but hope it was something different, something easier, something that wasn't a rare incurable disease!

We talked about Localized Scleroderma and Parry Romberg's. Are they the same thing? What is the difference? Is Parry Romberg's just a tougher strain of it? Which is worse?

The answers were what I thought... that in his opinion, PRS and Scleroderma were two different diseases, PRS has other symptoms associated with it...strokes, seizures, neurological problems, making it worse than Localized Scleroderma... oh sure, HAD to have PRS and not LS! Damn again!

Dr. Siebert put me in touch with Dr. Thomas Lehman, who is the leading pediatric rheumatologist in the nation. We corresponded through email, but he said it was difficult to give advice without seeing Hank. So we basically talked about what he thought about methotrexate and steroids as treatment. He said that he does not use steroids for the treatment of PRS, which I found interesting. He said that PRS is a slow progressing disease and does not warrant the use of steroids, but he does prescribe it for other conditions. And he does use methotrexate for the treatment of PRS.

Dr. Siebert and I talked about treatment options and surgery. He was great. He never tried to "sell" me on surgery, but instead put me in touch with some parents who had children who went through the surgery. I spoke with two moms. One had a boy who went through surgery 15 years ago. She told me all about it, spoke with tremendous love for Dr. Siebert and sent me many before and afters of her son. He is 19 now and beautiful! I was amazed!

The other mother has a daughter who went through the surgery around age 5 and she is 9 or 10 now. She also sent me photos. Her daughter is beautiful and one would never know she ever had any atrophy at all. Her little girl is active and living and loving life. What an inspiration!

Both mothers answered all my questions and told me that if they had to do it all over again, they would...and they would have done it earlier! One of them told me, "just do it, you won't regret it!"

Every email that came through, every phone conversation I had, I told Jeff about. Together we discussed what to do over and over again. But when Dr. Siebert said, "Come to New York and see me," we said OK! And so we made the appointment for March 18th. We were going to New York! We were finally going to meet Dr. Siebert! I hung onto his words of, "Don't worry, I can help." And then the questions started playing through our heads...
How are we going to get to New York?
Who is going to watch our little ones while we are gone?
How much does a hotel room cost in New York?
But it didn't matter, come hell or high water, we were on our way!

Thursday, March 26, 2009

Turning the Corner

We now entered a new chapter in our PRS As I read more about what Dr. John Siebert wrote on the PRS Resource web site, the more excited I got. An excerpt of his article:

"Reconstruction involves the microvascular transfer of soft tissue flaps containing fat and thin layers of fascia as thin as tissue paper which are transferred to the face from areas of the body not involved with the atrophy process. The transferred tissues are taken along with their nourishing blood vessels usually from the flank or groin. The blood vessels contained with the transferred tissues are then reconnected to blood vessels in the face in order to transfer living tissues with intact blood supply. The tissues are then sculpted and inset into the face to restore the facial shape which has been altered by the disease process."... "By intervening earlier perhaps the biology of the disease can be changed."

It made sense. Here's a doctor who has performed surgery on hundreds of patients with facial deformities and/or parry romberg's, who has had success with halting the progression! I couldn't believe my eyes!

I wrote a short email to Dr. Siebert, telling him about our situation and asking if he thought Hank would be a candidate for surgery. I eagerly awaited a response. A few days later my cell phone rang and the happy voice on the other end said, "Hi! This is Dr. Siebert!" I couldn't believe it! This world-renowned, busy New York surgeon was calling ME? On my cell phone, while I am shopping for make-up at Ulta? Holy Smokes! He asked if this was a bad time...and I said "No!" as I dropped my basket, ran out of the store and grabbed my notebook as he started talking.

We discussed Hank's history, Dr. Siebert's findings, our theories on causes, etc. Dr. Siebert asked me to send him some photos of Hank. He said I was doing all the right things, researching all the options and finding out as much as I can. And then he said, "Don't worry, I can help." Walking on air! That's how I felt. Finally, someone just gave us hope!

Wednesday, March 25, 2009

Trying to Decide...

Trying to decide what to we put our young son on methotrexate and steroids? Do we just do the methotrexate, do we just do the naturopathic stuff...what should we do?

This was what we struggled with in December. Christmas was fast approaching, so we decided to put all the medical stuff on hold. I was feeling stressed out by the decision...especially since I had filled the prescription for the chemo and when the pharmacist came out for the consult with me, she was really concerned about the age of our son. She pulled open the package and had me read the side effects. It was scary! Especially the part where it said it could result in death! Nice! And when the pharmacist looked at me with tears in her eyes and asked me to keep in touch, I knew we really needed to find an alternative.

So we tried to go on with life and pretend that all was well. We wanted the kids to have a nice Christmas without the underlying stress that was permeating our home. Jeff and I had our annual Christmas party with all our friends, and truly had a great time. But at the same time we had nothing to talk about since our whole world was consumed by Hank's illness and we weren't ready to talk about it. Besides, who wants to come to a party and talk about that kind of stuff?

Christmas and New Year's were great and we were able to have a few weeks of no doctor's visits and enjoy our family. But probably every conversation I had with Jeff was about whatever research I was finding about treatment, etc.

On New Year's Day I received an email from a woman who also has a 7 year old son with PRS. She asked if she could call me. I sent her my phone number and she called right away. We talked about our experiences and compared notes. She asked if I had considered surgery or if I had read about Dr. Siebert. Since the rule of thumb is to perform reconstructive surgery after the disease "burns out" or slows, I had not looked into it. We want to stop the progression, not let it "run its course"! I had glanced at Dr. Siebert's article on the PRS Resource web site, but quickly passed over it.

She told me to look at it again. That he doesn't wait for the disease to's not's intervention. What? Hello? New word? New idea? An alternative? That is the moment that things changed for us. I went back and read what Dr. Siebert had to say. I scrolled down and looked at the before and after photos. It seemed to good to be true! A new year... a new hope!

Naturopathic Medicine

Thought I should mention one very important thing... The moment we got Hank's diagnosis, we made an appointment with our Naturopath, Dr. Robert Thiel. We packed up and headed to his office, 350 miles away. We have been going to Dr. Thiel off and on for about 5 years and know and trust his abilities.

I had called Dr. Thiel before the appointment and filled him in on Hank's condition. By the time we got down there, he had done his own research and was ready for us. He put Hank on supplements for his thyroid and immune system, as well as vitamin D, which helps in collagen production. He thinks Hank has a bacterial infection and gave him something to fight that off as well. We have been going to him every 6 weeks and some supplements or dosages change depending on how Hank is.

Long story short...From November to February, Hank has gained 3 lbs and grown over 2 1/2 inches. For a kid who has been growing very slowly the last two years, this is unheard of! Not only is he finally wearing a size 7, he's actually growing out of some of the stuff! (He wore a 5 for almost 2 years!) I took Hank off of all high-fructose corn syrup products and have noticed that the discoloration on his face is fading.

I would say that overall, Hank is the healthiest he has ever been...well, except for the PRS. It is my belief that Dr. Thiel is slowing the progression and boosting Hank's overall well-being. Hank made it through all the holidays, plus January and February without catching the cold and flu bugs that plagued the rest of us! When Charlie and Lucy were hacking up a lung, Hank continued on cold virus-free! Amazing! This is a kid who missed 20 days of kindergarten because of illness!

I think this is really helping Jeff and I too. We are not sitting around waiting to see doctors or just watching the progression...we are taking an active part in Hank's care. And Hank, ever the trooper, actually asks for his pills, if we don't set them out quick enough for him. He is so proud that he is able to swallow pills instead of having them mixed in a drink. (which tasted terrible!)

I believe that Dr. Thiel will find the answer we are looking for. We have seen him have great successes with other family members and friends. Serious illnesses, not just easy stuff! It will just take time...


One month after diagnosis, we were at UCSF to see the pediatric dermatologist and rheumatologist. After complete examinations by both doctors, their recommendations were the same: Chemotherapy. I heard the word and inside I was freaking out. He's just 7! The doctors talked about the side effects...liver damage, canker sores, hair loss... but this kind of chemotherapy, methotrexate, is prescribed for arthritis, not cancer. (whew!) The second part of the treatment would be "pulse steroid infusions". Basically, we would take Hank to the hospital 3 days in a row, every month, where he would have steroids pumped into his body for one hour. The first round was for 3 months, with the possibility of another 3 months. The methotrexate is a 2 year protocol.

We came home in a daze and started our research on both treatments. We found that methotrexate is used a lot for diseases of "unknown origin". And a study done on 32 kids with Scleroderma or PRS had a 94% success rate of halting the atrophy. That was great! We were excited to have a treatment...any treatment!! But at the same time, the thought of putting steroids in such a little body and knowing it could affect his growth, really upset us.

My sister, Barbara, contacted her brother-in-law Bill, who works in the health industry. Through his experiences, research and contacts, we were able to get first-hand accounts of people who had used methotrexate. The opinions were across the board. Some got violently ill from it and had severe gastrointestinal problems along with terrible canker sores in the mouth, and others had no reaction at all.
The steroids were a whole other issue. The concoction prescribed was a combination of prednisone and corticosteroids. Some people had weight gains and swollen "moon" faces, some had the atrophy come back every time they quit the steroids, and still others had not problems at all. Of course after every treatment tests had to be run on everyone to make sure their body was still functioning properly...Blood counts, liver enzymes, etc.

We were torn. Through the Romberg Connection I was able to email and even talk on the phone with a few parents who's children were using the same protocol. They were all having success with minimum side-effects. We were so encouraged! But then I would look at Hank...small for his age, hadn't done much growing in about 2 years, and weighing just 46 pounds. Was this the right thing for us? It just didn't feel right, but what else was there? We didn't have any other options. The last thing we wanted was for Hank to come to us, years from now and say, "Why didn't you DO anything?" We couldn't do nothing! We HAD to do something...

Tuesday, March 24, 2009


We are very lucky in that we have a good support network within our family and friends! It has been very helpful to have people in our corner and not only giving emotional support but actually doing their own research of Parry Romberg's and trying to understand it and find the cause of it.

Some theories on the cause include... an injury or trauma at birth. (which Hank had). Or maybe the person is pre-disposed to it and it activates after a trauma. There are also studies that show the bacteria found in Lyme Disease is also found in Parry Romberg's and Scleroderma... There are cases of parent and child with it as well, giving it a familial link. I feel like there are so many pieces to this puzzle...we just need to find the right person/people to put it all together!

There are some really great web sites regarding Parry Romberg's, that offer information and support. My favorites are "The Romberg Connection" and "PRS Resource". The Romberg Connection has a Yahoo support group and it is a great way to share information. The PRS Resource has the latest info on treatment, restorative procedures, etc. Both have been helpful to me and through them I have been able to make contact with other parents in our situation as well as adults with PRS.

Click here: Welcome to The Romberg's Connection

Sunday, March 22, 2009

Trying to Keep it Quiet

Stressful! Our child has a devastating disease that is changing his looks, and he doesn't know it. How do we keep it from him until we figure this out? How do we explain all the doctors visits and the obvious strain that we are going through? How do we explain why Mommy cries during Mass every Sunday or why she takes him to the "Healing Mass". (and then cries when the priest blesses him...)

How do we protect him from the possible teasing from classmates? Do we tell the school? We don't want his classmates to know... These are all the questions that we have grappled with since Hank's diagnosis.

Right after the initial diagnosis, we stopped by the church rectory and I had the priest bless Hank because he had an "illness". Father said he would put Hank on the prayer list and I thanked him profusely. Little did I know what that meant...the following Sunday while at Mass, during the prayers of the sick, the lecturer loudly announced Hank's name! Hank looked at me with big eyes..."Mom!! What the...? I'm not sick!!" Whoops! From there on out, the church has been quietly praying for Hank!

And so we have been tight lipped about our situation, keeping things quiet, with just a few friends knowing and a few family members. Jeff didn't want to tell anyone until we knew what we were dealing with. He didn't want to have a bunch of unanswered questions. He didn't even tell his own parents until Christmas! And I didn't want to tell any friends who had kids in the same school as Hank or any parents of kids the same age for fear they might talk about it in front of their own kids.

In the last month or so, we have slowly been telling more friends and family members. Hank's teacher has known for quite awhile since we were pulling Hank out of school for appointments and I would cry every time she asked about him...We had to tell her something! But I knew that we could trust her with this secret, and she has proven to be a tried and true friend to our family!

Now fast forward to today... We now feel like it's time to share this information with those who love us and to maybe help someone else with PRS along the way. We have gone to a new doctor who has given us not just a ray of hope, but a whole sunbeam! (will talk more about it in another post). This doctor explained to Hank what he had and what he was going to do about it. So now that Hank knows, we have a plan and we have HOPE, it's time to let others know. Stay tuned...

The Race to Stop It

The weeks following Hank's diagnosis were a whirlwind of doctor's appointments... a skull x-ray, consultation with the pediatrician, to the dermatologist for a biopsy of Hank's cheek tissue, down to see our naturopathic doctor, over to UCSF to consult with their pediatric rheumatologist and dermatologist...whew! Oh and then off to see a new dentist. In the first 4 weeks, we dragged the poor kid to 10 different doctor appointments. And although he liked getting out of school, we knew he was wondering why the big deal all of a sudden? His face had been discolored for a couple of years...what was the big hurry?
All the doctors agreed that Hank, did indeed have Parry Romberg Syndrome. But no one could tell us the cause...if it would just stop on its own...was it genetic...was it a type of Scleroderma... All we were told was that it was a disease of "unknown origins". That it was not was genetic, but might be familial. That it "burned out after 10 years" for some people. And that they weren't really sure if PRS is in fact Scleroderma or if it's a separate disease. And although the doctors tried their best to put us at ease and to be helpful, I wanted solid answers. I wanted someone to tell us, "Here is the cause." "Here is the cure."

Saturday, March 21, 2009

The Day Our Lives Changed...

Five months ago our 7 year old son, Hank, was diagnosed with Parry Romberg Syndrome. Also known as Romberg's or PRS. It was devasting to hear that our son had a progressive and incurable disease that was starting to waste away his face, but it was also a relief to know what was wrong.
For two years, the left side of Hank's face had discoloration. It started as a rash, and we ran to a doctor who told us that it was an allergy. Then Hank's kindergarten teacher asked if
Hank had fallen or ran into something because his face looked bruised. So again, we ran to the doctor, who sent us to the dermatologist. The dermatologist said it was "atopic dermatitis" and handed us some cream. No change. And so another year went by and we continued to go from doctor to doctor. When he started to have mocha-colored streaks down the side of his face, we took him to our naturopathic doctor, 350 miles away. He felt like Hank had an infection of some sort that was affecting his thyroid and his immune system.
So 2 months later, when the diagnosis came through, we couldn't believe it. THAT was what was causing the discoloration? An incurable disease WASTING our child's face away? Not a rash? Not an allergy? Not atopic dermatitis? What the hell? Now what?
And so we started...started searching the Internet for more information. But not just Jeff and I, but my sisters and my mom too. And what did we learn? There isn't much information out there. PRS is so rare that there are only approximately 700 documented cases worldwide. There are probably more cases, but still it's like a 1 in 750,000 chance of having this. Oh sure, can't win the lottery...! It's like we won the reverse-lottery!

*update...someone pointed out to me recently that the odds are much greater than what I thought. If you consider the world population and let's just say there are 1,000 cases of PRS...that's still a one in 6,000,000 chance! in 6 MILLION! (What the hell?!)