Friday, February 25, 2011

What Is It, Anyway? ~ Rare Disease Day ~ 2-28-2011

Millions Around World To Observe Rare Disease Day

National Organization for Rare Disorders (NORD) and others around the world in observing World Rare Disease Day on February 28, 2011.  On this day, millions of patients and their families will share their stories to focus a spotlight on rare diseases as an important global public health concern.

“There are nearly 30 million Americans—and millions more around the world—affected by rare diseases,” said Peter L. Saltonstall, president and CEO of NORD.  “Everyone knows someone with a rare disease.  But, while many of these diseases are serious and lifelong, most have no treatment and many are not even being studied by researchers.  This leaves patients and families without hope for a better future.”

A rare disease is one that affects fewer than 200,000 Americans.  There are nearly 7,000 such diseases affecting nearly 30 million Americans.

World Rare Disease Day was launched in Europe four years ago and last year was observed in 46 nations.  It is always observed on the last day of February.  On that day, patients and patient organizations will post stories, videos and blogs online and host events to raise awareness of these diseases, which are often called “orphans”.

In the U.S., the coalition supporting Rare Disease Day includes patient organizations and advocacy groups, medial professionals and associations, government agencies, researchers, and companies developing treatments for rare diseases.

Rare Disease Day 2011 activities in the U.S. will include creating an online library of two-minute videos about specific rare diseases and how they affect patients’ daily lives.  Also, patients across the nation will help NORD create a database of physician experts.  Patients will share their personal stories through a survey hosted by NORD and the Pew Research Center, and there will be a drive to enlist support for a new Rare and Neglected Diseases Congressional Caucus.

 “More than half of the people who have rare diseases are children,” Saltonstall said.  “Challenges faced by patients and their families include delayed diagnosis, few treatment options, and difficulty finding medical experts.  Many rare diseases have no approved treatment.  Insurance may not cover treatments that aren’t approved.  Also, treatments for rare diseases tend to be more expensive than those for common diseases.”

In 1983, the Orphan Drug Act was passed by Congress to create financial incentives for companies to develop treatments for rare diseases.  Since then, more than 360 orphan drugs and biologics have been approved by the Food and Drug Administration (FDA).  It is estimated that from 11 to 14 million Americans benefit from these products, but that still leaves more than 15 million Americans with diseases for which there is no approved treatment.

For more information about Rare Disease Day activities in the U.S., go to  For information about global activities, go to
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What is a rare disease?

In the United States, a disease is considered rare if it is believed to affect fewer than 200,000 Americans.  Some other countries and the European Union have similar but slightly different definitions. 

How many people have rare diseases?

According to the National Institutes of Health (NIH), there are almost 7,000 rare diseases affecting between 25 and 30 million Americans.

What are some examples of rare diseases?

Rare diseases are present across the spectrum of medical conditions.  All but a few types of cancer are rare.  There are also rare neurological and neuromuscular diseases, metabolic diseases, chromosomal disorders, skin diseases, bone and skeletal disorders, and rare diseases affecting the heart, blood, lungs, kidneys, and other body organs and systems.  Many rare diseases are named for the physicians who first identified them.  A few are named for patients or even the hospitals where they were first identified.  NORD has a database of more than 1,200 reports on specific rare diseases in patient-friendly language on its website (  The most complete listing of rare diseases in the U.S. is on the website of the National Institutes of Health (NIH) Office of Rare Diseases Research (ORDR) at

Who is affected by rare diseases? 

Nearly one in 10 Americans have rare diseases.  Many—but not all—of these diseases are genetic.  Some are apparent at birth.  Some do not appear until much later in life.  More than half of the people known to be affected by rare diseases at this time are children.  One of NORD’s continuing themes is that everyone knows someone affected by a rare disease.  And, even though each disease is rare, together they significantly impact the American public as a whole.  For that reason, rare diseases are an important public health concern.

How many rare diseases have treatments?

Many rare diseases still have no approved treatment.  And many are not even being studied by medical researchers at this time.  Often, people with rare diseases are treated “off-label” (with treatments that are not approved by FDA for their specific disease).  Increasingly, patients are experiencing reimbursement problems with insurance (including Medicare and Medicaid) for off-label treatments.

What are some of the problems experienced by people who have rare diseases?

  • Difficulty in obtaining an accurate diagnosis
  • Limited treatment options
  • Little or no research being done on the disease
  • Difficulty finding physicians or treatment centers with experience in treating a particular rare disease
  • Treatments that are generally more expensive than those for common diseases
  • Reimbursement issues related to private insurance, Medicare, and Medicaid
  • Difficulty accessing medical, social, or financial services or assistance because those making the decisions are not familiar with the disease
  • Feelings of isolation and of having been abandoned or “orphaned” by our healthcare system

The following agencies of the federal government are Rare Disease Day Partners and year-round resources for the rare disease community.
National Institutes of Health (NIH) Office of Rare Diseases Research (ORDR)
The National Institutes of Health (NIH) is the primary federal agency for conducting and supporting medical research in the United States.  The Office of Rare Diseases Research (ORDR) serves as a resource within NIH to promote and help coordinate research and information related to rare diseases.  ORDR may be found online at:
ORDR also has a Genetic and Rare Diseases Information Center known as GARD.  There is information about GARD on the ORDR website.  In addition, individuals may contact GARD directly at:
By Telephone
Monday - Friday, Eastern Time
(888) 205-2311 (Phone)
(888) 205-3223 (TTY)
(301) 251-4925 (International Telephone Access Number)
By U.S. Mail or Fax
(Answered within 5-10 working days)
The Genetic and Rare Diseases Information Center
P.O. Box 8126
Gaithersburg, MD 20898-8126

Fax: (301) 251-4911

Food and Drug Administration (FDA) Office of Orphan Products Development (OOPD)
The U.S. Food and Drug Administration (FDA) is responsible for protecting the public health by ensuring the safety, efficacy, and security of human and veterinary drugs, biological products, medical devices, our nation's food supply, cosmetics, and products that emit radiation.  Within FDA, the office dedicated to promoting the development of products for the diagnosis or treatment of rare diseases is the Office of Orphan Products Development (OOPD).  The OOPD interacts with the medical and research communities, academia, pharmaceutical and biotechnology industries, and patient organizations.  It administers the major provisions of the Orphan Drug Act.  Through its Orphan Products Grants Program, OOPD provides funding for clinical research on rare diseases.  The OOPD website is at:


The Social Security Administration (SSA), under the guidance of Commissioner Michael Astrue has been working with NORD and others in the rare disease patient community to reduce unnecessary delays that people with rare diseases often encounter when they apply for financial assistance through SSA.  Through a program called “Compassionate Allowances”, SSA is identifying extremely disabling rare diseases to expedite the application for assistance from patients with those diagnoses. 

Read about the Compassionate Allowances Program and view lists of diseases identified for that program to date at the following website:


The Orphan Drug Act was approved by the two houses of Congress in 1982 and signed into law by President Ronald Reagan in 1983.  Although few people realized its significance at the time, it has become one of the most important and successful pieces of healthcare legislation today.

What is an Orphan Drug?
This term refers to a drug or biologic (such as a vaccine or blood product) that treats a rare disease or condition.  A disease is considered rare if fewer than 200,000 people in the United States have it.

Orphan drugs may be new products or they may be drugs already approved for other diseases that are later found to treat a rare disease.  A drug or biologic becomes an orphan drug when the sponsor applies for an orphan drug designation, and the drug is then designated by the Food and Drug Administration (FDA).

Like every other drug, orphan drugs must go through the normal FDA approval process and be evaluated for safety and effectiveness for the intended use.  To date, more than 2,250 drugs and biologics have been designated as orphan drugs since 1983.  More than 360 have been approved for the U.S. market by FDA.

How the Orphan Drug Act Has Helped
Discovering and developing a new drug can be very expensive.  Since rare diseases affect relatively small numbers of people, companies would not be able to recover this expense without the incentives provided by the Orphan Drug Act.  Those incentives are:

  • A seven-year period of marketing exclusivity after an orphan drug reaches the American market
  • Tax credits for the costs of clinical research
  • Opportunities to apply for grant funding for certain clinical testing expenses
  • Assistance in clinical research study design
  • Waiver of Prescription Drug User Fee Act (PDUFA) filing fees (fees that companies normally pay to FDA)

The Orphan Drug Act was a Bipartisan Effort
The Orphan Drug Act was introduced originally by Senator Nancy Kassebaum (R-KS) and Representative Henry Waxman (D-CA).  It was cosponsored by several current members of Congress, among them Senators Orrin Hatch (R-UT).  The late Senator Edward Kennedy (D-MA) also was a sponsor. 

What Will You Do for Rare Disease Day 2011?

Rare Disease Day 2011 will be here soon, and the groundswell of activity has been truly phenomenal!  Here are a few highlights:
  • The U.S. Senate has approved with unanimous consent a resolution designating Feb. 28, 2011, Rare Disease Day throughout the U.S.  This resolution was sponsored by Senator Sherrod Brown (D-OH) and co-sponsored by Senator John Barrasso (R-WY).  If you live in Ohio or Wyoming, be sure to thank your senators for this.
  • We have an unprecedented number of state proclamations this year.  NORD extends a huge thank-you to all who helped with this, and a special shout-out to Kelli Foster and others in the group for their amazing efforts!
  • There are more than 500 Rare Disease Day Partners for 2011!  This illustrates the strong collaboration among patients and families and those who are dedicated to assisting them.  See the list of Partners on the Rare Disease Day US website.
  • NIH Director Francis Collins will speak at the NIH Rare Disease Day event on Monday.  Speakers representing the patient community will be NORD President and CEO Peter L. Saltonstall and Genetic Alliance President and CEO Sharon Terry.
  • Events submitted through the Rare Disease Day US website are listed state-by-state.  See what's happening in your state.
  • FDA is hosting a "Do A Designation" workshop at the Keck Graduate Institute in California on Feb. 28 and March 1.
  • NORD will be continuing its "Video Library" project to create 1- or 2-minute videos describing as many rare diseases as possible.  For each video posted, Alnylam Pharmaceuticals will donate $10 to NORD to support education on all rare diseases.  In addition, Donate Games has donated an XBOX 360 Elite Bundle and other prizes to be raffled off to a few lucky individuals who submit videos.
  • Still not sure what to do on Rare Disease Day?  Tell at least three other people about the rare disease of interest to you and how it impacts daily life.  If you participate in Facebook, consider changing your profile photo to the Rare Disease Day logo for that day.
NORD is grateful to everyone who, in any way, has provided support for Rare Disease Day 2011.  This has been the best year ever, and it's all because so many people find creative ways to participate, no matter where they are or how few resources may be available to them.
For the complete overview of Rare Disease Day events in the U.S., go to the site hosted by NORD at

And don't forget to visit the global Rare Disease Day site hosted by EURORDIS at

We'll keep the US website active after Rare Disease Day. 

Next year will be a leap year, and that means that Rare Disease Day 2012 will fall on February 29th, the ultimate rare day.  Be sure to check the website periodically through the year to see about plans for that special Rare Disease Day!

Clink on the link below to show your support for the 30 million Americans who are affected by rare diseases. Lundbeck Inc. will make a $1.00 donation to support rare disease research for every person who clicks on the link! The money raised will be contributed to a general research fund managed by the National Organization for Rare Disorders (NORD).

And to The Post-Tribune & The Times Newspapers for printing my story!!!

Wednesday, February 23, 2011

Surgery ~ and ~ It's on Rare Disease Day

Feb. 23, 2001
Dr. Munoz's office called, finally...(My Neurosurgeon).  Surgery is scheduled for Monday Feb. 28th, 2011.  Ironically... that's Rare Disease Day... The LP-Shunt that I just got, apparently is NOT draining where it's supposed to.  It's draining into the fatty tissue, and it's supposed to be draining into my peritoneal cavity.  Currently I have a large mass, that's not going away without the catheter being moved.  I hope, this will be the end of this long stretch of three months.  Since Nov. 10, 2010 I will have had, on Monday, 5 surgeries.  This is surgery #11 for these diseases I've carried around with me since 2004.  I've had one other LP Shunt revision, but that was on my first shunt in 2004.  But it didn't involve removing a mass of fluid...

Right now, I thank God for Anti-Depressants...
And I find myself looking at this picture... It sits here on my desk. 
Maybe for a reason... A reminder... Not to give up Hope... To keep fighting thru the pain.

This is a Visual Prayer  that I did at my BFF's house on 2-19-2011.  She always said, " the first one speaks to you, and you will not want to give it away" and she was right, I just kept finding things to add to it... Things that "worked"  ~things about me...
check out  Michelle's Visual Prayers, they are amazing. 

The second one I made will go to a friend who shares the same 2 diseases I have.  Fate, is how I met her.  I truly believe she is suffering more than I am.  It's not my best work, but it's only the second one I've ever done! and tried to paint...

Purple is the color for Brain Disorders.  The labels say:
Turning Life's Trials into Triumphs!
Chronic Life
Looking Back to Tomorrow
How to Survive
Living into Hope
The Curious Mind
Courage and Conflict
and underneath the hands it says: How to overcome chronic hopelessness to discover God's transforming grace and strength...

Originally, I planned to make the second picture for a sick family member, but when we were asked to pray about it, I couldn't help but to think of my sick friend Karrie.  I don't pray on a daily basis...
Sometimes not at all...
But when I was asked to pray, Karrie is ALL I could think about.

Right now I am just trying to hold myself together like a pair of bookends.  I feel as if I've lost one of them these last 3 months and it's hard to stand up without it...

My favorite song, Blake Shelton "Who Are You When I'm Not Looking"
ONLY a few of the verses...

My ~ oh my, you're so good lookin',
Hold yourself together like a pair of bookends
But I've not tasted all your cookin,
Do you pour a little something on the rocks,
Slide down the hallway in your socks

My ~ oh my, you're so good lookin',
Hold yourself together like a pair of bookends
I wanna know... I wanna know... I wanna know....
Who are you when I'm not lookin?

Do you break things when you get mad
Eat a box of chocolates cuz your feeling sad
Paint your toes cuz you bite your nails
Call up mama when all else fails

Who are when I'm not around,
When the door is locked and the shades are down

I am a completely different person in my head, than I appear... Even to my husband, daughter, & best friend.  All of my Facebook friends tell me what a good outlook I have, and that they'd never know anything was ever wrong, I'm an inspiration, I should share my stories, that I'm so positive...
Do you really wanna know who I am when you're not looking?
It's probably not what you'd think...
But I try... To be happy, to be positive.  I am one of the lucky one's!  I have an amazing husband and daughter who take care of me when I'm not well... Some people don't have that...

Tuesday, February 22, 2011

Part 7 ~ Blizzard 2011 ~ & A Frustrated Dr.

January 31
Dr. Munoz's office calls and cancels my post-op appointment for tomorrow, Tuesday Feb.1st. The whole Chicagoland area is under a blizzard watch.  They rescheduled me for Thursday, Feb. 3rd.  Now, I was already nervous about leaving my stitches and staples in this long.  My surgery was 12 days ago, and stitches and staples come out between 7-10 days.  I was devastated that they cancelled clinic, the storm wasn't due to hit the city until the afternoon, but they closed anyway.  I panicked, I AM ABLE to take out my staples, I do it all the time.  Dr Munoz gave me a staple remover years ago, so I wouldn't have to drive all the way up there just to get them out.  I've seen it done a million times at my work, staples are a piece of cake, I've been taking my own out for years.  So between Tiffany and myself, we get all the staples out.  Tiffany was a true pro at it! (for never doing it before)  Now, I've NEVER had stitches before, and Tiffany is looking at them saying, I think the skin is starting to grow over them... That would explain all the itching.  I send my boss an e-mail explaining what was going on, and that they rescheduled my appointment for Thursday.  But Northwest Indiana was to continue getting lake effect snow after the blizzard, and there is a possibility that I may not make that appointment, and I needed these stitches out.  He agrees, and a note was faxed over from the Neurosurgeons office giving him permission to do so.  Thankfully, my boss takes those stitches out!  And honestly, as mad as I was, I was thankful that they cancelled my appointment.  It got REALLY bad in Chicago.  People were trapped in their vehicles on Lake Shore Drive, and accidents all over Chicago, and NW Indiana. THE BLIZZARD CAME!!!

Feb 2, 2011
Two feet of snow fell, I'm sure even more in Chicago.  Jeff home from work, Tiffany home from school.  We were under a State-of-Emergency! No one is going anywhere! It was a storm, so naturally that meant that I felt horrible, and I did. Around noon the day before, I started to get a really bad, not typical, headache.  Almost migraine-like.  I haven't had a migraine in years, I just thought it was a really bad headache that came along with a really bad snow storm... I was in bed most of the day.  Buy evening, I was on the couch with an icepack on my head because it hurt so bad.  I went to bed at normal time, we had to get up early to go to the Dr. in Chicago.  I woke up in the middle of the night nauseous, head just pounding.  I found some medication that I had from my surgery in November, it was a headache medicine with caffeine in it. So I took 2, and a 750mg Vicodin, and went back to bed. I was sick like that the whole next day.  (That migraine-like headache lasted thru Sunday night.  I watched the super bowl game laying down with ice on my head.  My daughter made us an amazing dinner that night.)

Feb. 3, 2011
We had not even been plowed yet, 2 feet of snow on the ground.  I call the Dr's office and tell them that we will not be coming today due to the lake effect snow that continues to fall here.  They rescheduled it for the following Tuesday.  We're still under a State of Emergency until 12pm today!

Feb. 8, 2011
Today is my daughters birthday "Sweet 16!" 
We head to Chicago, despite the lake effect snow that was dropping about 4 inches of snow on us.  It was only here in Indiana, not in Illinois, so we make the trip anyway.  We get past Cline Ave. and the coast is clear, just like they said on our local radio station.  White knuckled (well... I was anyway) it took us an hour to get to the state line.  Normally that's a 15 to 20 minute trip.  Thankfully, we get to my appointment on time.  The NP comes in, asks how things are, I tell her of the migraine-like headache that I've had for days now, that are making me sick to my stomach.  And again with the swooshing.  Also, that I have been having this very uncomfortable feeling in my abdomen.  When I eat, or drink I have this overwhelming fullness, and pain.  She thinks I need to get an Ultrasound to see if I developed a Pseudomeningocele.  That's a sac of fluid that is collecting, and not being absorbed properly.  She leaves the room, to get the instrument to adjust my shunt down one more notch, and to talk to the Dr.

I've had a 5+ year relationship with this Neurosurgeon, he knows me and my husband, my chart is like 3 inches thick, we have history...  He and Robyn come into the room.  He doesn't even sit down, but shakes our hands.  Standing there, he says, "There's NOTHING else I can do for you surgically, I cannot continue to open you up, you are going to get an infection!" he was very standoff-ish... "I'm going to refer you to a Dr in Munster, a Vascular Neurologist, she can treat your symptoms, but there is nothing else I can do for you as your ventricles in your brain are collapsed." So not typical of him to act like this towards me, or anyone for that matter, just very uncharacteristic of him.  Jeff and I were both stunned by him not even sitting down to talk to us.  Then he tells Robyn to write me a Rx for an Ultrasound, and that he is leaving me in Robyn's care for now, and that he will send an introductory letter to Dr. Deleo, the Dr in Munster, introducing me and explaining to her my history.  He was frustrated with my disease, for the first time since I've been seeing him, he showed it! 
The good news was that my shunt WAS still programmed at 1.5! I was very happy to find out that it wasn't malfunctioning!  Robyn adjusted it down to 1.0 for me.  I got the Rx for the Ultrasound, and off we went.

Feb. 12, 2011
I go to Porter, a local hospital, to get the Ultrasound.  When I saw the Dr just a few days earlier, it mostly was discomfort I was experiencing, now it's a small lump around the incision. The tech, while performing it, is telling me I really needed a CT scan, but she will do her best to get pictures of what they are looking for.  Turns out, it wasn't what Robyn thought it was. 
On Tuesday the 15th, she tells me it could be a Seroma, and that too is a sac of fluid that is not being absorbed.  And that I now need to have a CT scan.

Feb. 17, 2011
I go to Porter again, to have the CT scan this time.  During those 5 days between the Ultrasound, and the CT scan, the discomfort and small lump has turned into a grapefruit size lump extending across my abdomen.  I hurt all the time, and whenever I eat of drink I get that overwhelming feeling of fullness.  I go the next day to pick up the results and a copy of the scan.  It is a 6.3 x 4.3 x 4.4 mass of CSF (spinal fluid) in my fatty tissue.  The fluid is supposed to be draining into the peritoneum.  Knowing that Robyn is off on Fridays, I know that I have to wait until Monday to hear from her, but I call her anyway to leave a message that I had the scan done, and where. 
She calls me on Monday to tell me that she didn't get a fax of the results, I tell her that I have a copy, and she asks me to read it to her. I did, and the scan report does not say if the catheter tip is in my peritoneal cavity, or outside of it in the fatty tissue... So now she wants me to overnight her the CD so my neurosurgeon can see it for himself, and to call Porter and ask them to re-fax the report to her attention.  I called Porter, asked to speak to a Radiologist, and asked her to please identify exactly where the catheter tip is, and update the report, and fax it to Robyn.

Feb. 22, 2011
Waiting to hear from Robyn, I overnighted my scan to them, and it is guaranteed to be there by 3pm today.  I hope she got the fax that I asked Porter to send to her.  Dr sees patients today in his clinic from 1-5pm. I will hear from them this afternoon, or tomorrow morning.  Hopefully with an answer as what we are going to do about this!

Monday, February 21, 2011

Part 6 ~ Surgery Again & AGAIN

Jan. 17 2011
I was not his first case, usually I am... and my surgery was not until ... I think.  I was scheduled for , but he got held up in a big case, and he ran behind the rest of the day. I finally get to surgery, full of anxiety from waiting all day. Thank God they let Tiffany wait with Jeff and I because she would of been in the waiting room all day by herself!  The nurse that took me upstairs to the "holding room" noticed that Tiffany was a minor, and said you should come with us.  She had never been up there with us before, that is where they start your IV and give you drugs to calm you down before they wheel you off.  There's hundreds of people in there working.  I call it "organized chaos".  Everyone is just rushing around doing something, taking patients in and out.  Needless to say, Tiffany was a little freaked out about this...

The shunt was "clogged" in the ventricle, again completely collapsed.  He gets it working again, and I was scheduled to go home the next day.

Jan. 18, 2011
I had been up, and out of bed a few times that morning. But I got up around 9:30am to wash up, brush my teeth, and start getting my stuff together.  And the SWOOSHING started up again!!! Just a short 18 hours after surgery! I freaked out called the nurse, and they paged the Dr, and his Resident that's at the hospital 24/7... 
Dr. Munoz was already on his way to the hospital when he got the page.  Tuesday he see's patients in his clinic. Still with his coat in hand, (it's January in Chicago, IL) he comes to my room... I tell him what's going on. He sits down, thinks for 2 seconds, and says, "Ya know Jennifer... The ventricles in your brain are just too small and collapsed to handle another VP Shunt... You will continue having the same problems. I think your best option is to implant a "Programmable" LP Shunt. That is really your only other option at this point." Again, I was beside myself, I called my husband to tell him what is going on.  He too cannot believe this is happening, but if it's the only option, then that's what we have to do.  So I was not discharged from the hospital, and he scheduled the surgery for the next day, Wednesday Jan 19th. My depression is in full force at this point.  I literally cried, in bed, all day.  Jeff was working that day, so he stayed at work knowing he's gonna have to spend the whole next day with me, while I have surgery.  I talked to Jeff and Tiffany off and on throughout the evening.  I could not tell them what time my surgery was, because no one new at that point.

Jan.19 2011
It was a "fit in surgery" whenever he could fit me in, was when I'd have the surgery... Luckily for me, bad for the other patient, someone had some cardiac complications come up during the Pre-OP testing, so their surgery, scheduled at was cancelled, and I filled that spot. I was happy to have the surgery... But I didn't find this information out until , and my husband & daughter were at home an hour away... I sent him a text message, letting him know, he did not answer.  So I sent him another message, and when they were getting ready to take me away at , he was texting me back, "good luck, we will see you when your done", as they had just got up, and had to get themselves together with a 1.5- 2 hr drive in rush hour traffic ahead of them... I was sad to go off to surgery, and them not being here, to give them that last kiss, and say, "I LOVE YOU"...  I have already been fighting depression during this whole process, so it was rough.  To say the least.  As I was in the holding area, I just cried.  They gave me something early to help me calm down, as I had the same Anesthesia team as i did just two days earlier, they understood that my family was not here yet, and this was the 4th surgery in just over 60 days. 

When my surgery was done, they were there waiting for me... I had a Lumbar-Peritoneal Shunt placed in my lower left quadrant on my abdomen, a tube run thru my peritoneal cavity, and the end of the tube was placed into my spine. Three incisions, I only planned on two...
I was discharged from the hospital on Thursday, Jan 20th. PAIN everywhere... Head, Lumbar spine,but the pain in my side, and abdomen were the WORST... Having those muscles cut through, yet again, PAINFUL!!!  But worth it to make the SWOOSHING in my ear go away!! The drive home was miserable, but I did what I could to stay comfortable, I just wanted to go home.

My husband got me up in bed, and comfortable, he had to leave to pick up our daughter from practice.  As I laid there for 10 minutes... the swooshing was back!  I freaked out!  I am so done with this!!  I just cried, but then pulled myself together before they got home, and came to the realization that this shunt was put in "Blind", they drained the fluid off my brain, and and set it at a number. Not knowing or remembering that it needs to be a "low" number. My first LP-Shunt was a "wide-open" (0.5)valve... I think it was set at 18, and really for me to function, it needs to be set between 8 & 10.  Knowing that I am needing the staples in my head out, and an adjustment on the shunt, I call and make an appointment for the next Tuesday.  The receptionist argues with me... Said it was too early, but I got an appointment anyway! 

Jan. 25 2011
We go back to Rush to see my Neurosurgeon.  He looks me over, talks to me, and sends in his Nurse Practitioner in to take out my staples, and to do an adjustment on the shunt. She brings in this instrument that has a magnet that "digitally programs" the shunt. During surgery my shunt was supposed to be set at 1.5.  Robyn the NP gets it on the shunt, took a few minutes, I still have staples,and am very swollen and tender.  She gets it on there, and it reads 2.5... What the hell? (I think SHE said that too) No wonder I have swooshing, My husband is standing behind her, he's intrigued how this thing works, and... yep, a second time it registers 2.5... OK, now she calls for some back up. Another NP. Both of them are now trying to get this shunt to program. Every time they do, it goes back to 2.5...  FINALLY... several attempts later, they get the number 1.5 to stick. That is where it was "supposed to be set" during surgery. "SUPPOSED to be set!!!" How does this happen?  A surgical resident who doesn't know exactly what he's doing? OR, it's malfunctioning... And to me... of all people...  She checks it several times before we leave to make sure it's still at 1.5, we are all good, so we make an appointment to see him the next Tuesday to get the rest of my stitches and staples out, and  NOW another shunt adjustment... We were home for like 10 minutes, and the swooshing started right back up...  Now, I just wait until Tuesday when I go back, to see if the number changed... Or if it just needs to be adjusted to 1.0... This is so depressing. It's like a big tease, the QUIETNESS in my ear for a few hours... It's the best sound in the world. The SWOOSHING is true agony!

Part 5 ~ Suffering Silently

Dec. 22, 2010
I underwent another VP Shunt revision. The diagnosis... the tube was clogged, completely clogged! For a while there I thought I was CRAZY!!!   I only stayed the one night in the hospital, thank god, as Christmas was only two days away.  I was recovering nicely at home, this time the incision was VERY painful, I'm guessing because it had only been 6 weeks since the prior surgery.  Everything was good up until Christmas Day.

Christmas Day 2010
That day I was in alot of pain. I managed to get myself together, and we went to visit my parents for a little while, they were not hosting Christmas Dinner this year, my mom is in her late 60's &  my dad in his early 70's. They just were not up to hosting, and with me just having surgery, I couldn't either, and none of my brothers offered to have Christmas at their house, so we didn't have a "Family Christmas" with my family.  After a nice visit we go to Jeff's parents house. We were there from about 12-4pm.  I was dying inside (Suffering Silently), my head was killing me. Just thought it was from all the excitement of the day, and it was the first time I was out of the house since surgery, and I wasn't supposed to be... Came home, put pj's on, and went straight to bed. Didn't get up until 9pm or so. Sat with Jeff for a while, then went right back to bed.  The next day, low and behold that damn swooshing was back!  I was beside myself!!

Determined for Jeff & Tiffany to have a good week, I acted as if nothing was wrong! (Suffering Silently) These last couple of months had been very stressful for all of us, and we had big plans for New Years Eve.  Spending it with friends, staying the night, having a great time, laughing, playing games, and having a big breakfast in the morning!  And we did just that! The three of us had a really good week! Tiffany was off school, Jeff was home from work alot due to the holidays, and of course, I was home, but Suffering Silently.

Jan. 4, 2011
I have a Post-op appointment with the Neurosurgeon.  As we were getting ready to leave, I tell Jeff, that there is something I need to tell you before we leave. I tell him that I've had swooshing since the 26th... Jeff was more than supportive, caring, and understanding (he did understand WHY I didn't tel him, but wasn't happy about it). 
We head out to Chicago, once again. I was crying my eyes out, didn't know how my Dr was gonna respond when I tell him that my symptoms are back, a mere 4 days post operative. I just think that one of these times, he IS gonna tell me that I am crazy!  Luckily, it took a while before he came into the room. I was done crying, but I was a mess inside. As soon as he opened the door, he said he knew something was wrong with me. My eyes/face have  way of telling my symptoms ~ and not  because I was crying. When my intracranial pressure is elevated, my eyes have a red, glossy look to them.  I have been very accurate with my symptoms in the past... Every time I have said that something was wrong, it was confirmed! So he trusts my judgement, doesn't put me thru the Spinal Taps anymore, thank god!! Dr Munoz says, "Lets wait a week, and you call me if the symptoms don't subside.  What we will do then is an exploratory surgery with cameras and other High Tech stuff, to try and determine why you've been in remission for 4 years, and now, all of a sudden, your not!"  And a second surgery, to add an additional VP Shunt to help drain the fluid... "Dual Exhaust" he called it!! Trying to make me laugh! I did a little... because of his accent!...  

Jan. 7, 2011
I see my family Dr, he does all my pre-op tests, history and physical (again).  He also orders me some additional meds to help me with my (Suffering Silently ) depression, anxiety, & insomnia... Hopefully it helps! I have started this bout of Insomnia in November after my first surgery.

Jan 10, 2011
, I leave a detailed message with his Nurse Practitioner that my symptoms have not subsided, and to let Dr know he needs to get me on the surgery schedule.  Surgery is scheduled for Monday, Jan17th... And while I'm staying at a friends house for a couple of days, Jeff fills in Tiffany on the situation, because she knows none of this.  I was trying to avoid "finals" week for her, but some dates got mixed up, and that didn't work out as planned.  ALOT of things didn't work out as PLANNED. ~  I suffer silently. Who says misery loves company...

Part 4 ~ Still Suffering ~2010

September 2010
It was Saturday, Labor Day weekend, Jeff was at a golf outing, Tiffany had a friend over, and I had built a nice cozy fire outside in the fire pit.  I was relaxing with a nice glass of wine, Facebooking on my new phone, when all of a sudden the SWOOSHING started! All weekend, I really didn't feel good, one of my good friends and I had a rummage sale at my house, and my neighbor across the street had one as well.  It was a great turnout, and a long day.  I was really tired, and had a migraine type headache by the end of the day. But didn't think it was anything other than alot of coffee and not enough food, as we were busy all day, and didn't eat! 

I made an appointment with my Neurologist, he kinda shrugged me off, I insisted that something was wrong, that the swooshing was a true sign of shunt failure for me.  He orders a MRI.  Like always, my scan came back normal, they have never been able to diagnosis me thru a scan, it has to be a spinal tap. When I asked him to do a spinal tap, he said, "Nothing is wrong with you!" and made it very clear that he was NOT going to give me pain pills, even though I didn't even ask for them!!! So I made an appointment with my Family Dr.

October 2010
I see my family Dr.  He knows more about my Neurological condition, than my Neurologist does... His brother also had a Chiari so he was familiar with MOST of what I had going on. He examines me, and he tells me he can see the fluid in my ear, and that I probably have an inner ear infection, or something like that... I was beside myself! I explained to him that the SWOOSHING is a true sign of shunt failure, I've been dealing with this since 2003... Nothing ~ he wasn't convinced that I was having shunt failure, he looked at my MRI and the report, and again said I don't "think" that there's anything wrong, I asked him to order a spinal tap, he said if you want that done, you can see your Neurologist, whom I've already decided I will NO LONGER see.

Desperately, I call the neurosurgeons office, make an appointment with him.  I told him what had been going on since Labor Day weekend, and neither one of my local Dr's believe me when I tell them that the swooshing means trouble... He orders me a spinal tap, I had it done there at Rush under x-ray. I've never had that done before.  Didn't like it one bit, it had been years since I had a spinal tap! They never get any easier, even under x-ray, in fact harder... because now, after all the one's I had done (about 40), I have a ton of Scar Tissue in there... I was correct in thinking something was wrong with my shunt, normal opening pressure is 10-12, mine was 32. Not horrible, but not good either... With this info the neurosurgeon goes ahead and schedules me for a VP-Shunt Revision. 

Nov 10, 2010.
I had a VP Shunt Revision.  Jeff, Tiffany, & my two best friends were all there with me at the hospital, and stayed with me well into the evening. The next day...I felt pretty darn good, other than the pain, due to the incision, I could tell that my shunt was working again. The swooshing was gone! The reason my pressure wasn't extremely high on the spinal tap was because the shunt was collapsed, so the fluid was "trickling" out, he put a new tube on it, and said that it should work just fine now!  But because of the Ventricles, I MAY need a new one in the future, or it will need to be moved.

I stayed home from work for almost three weeks. The day before I was scheduled to go back to work Nov.28th, my head started hurting. But we had some storm fronts moving into the area that brought snow with them. Alot of times a front like that will bother me (a headache around my forehead and eyes), so I chalked it up to the system moving in. Went to work on the 29th, it was a typical (busy) Monday! But I felt OK, not great, not too horrible, just OK.
The next day Tuesday Nov. 30th (my birthday) I didn't feel good at all, my head was screaming! I worked all day, it snowed all day, so I was very confused by this pain, is it my shunt, or is it the snow storm moving in... I didn't know... Jeff & Tiffany took me to dinner that night, Kelsey's Steak House, then we were to go to Merrillville to get my birthday present. As we were eating dinner, I asked if we could just go home, that my head hurt, & I was just exhausted from going back to work... So after dinner, we got ice cream, and went home. A week goes by, and my head still hurts, then the swooshing started!!!!!!!!!!!
And I knew. 
I will eventually have to have the shunt taken out and moved into a different location, he thought with a new tube, I'd get a couple of years out of it... Well that's not the case. I call the nurse practitioner that works with Dr. Munoz, and tell her what's going on. Without hesitation, like he new I was gonna call... Sets me up for surgery, skip the spinal tap, thank god!  But first wanted me to get a CT-Scan to make sure I wasn't having any Post-op complications. Had the scan, everything looks fine! Surgery is scheduled for Wednesday Dec. 22, 2010.

Part 3 ~ 2009~The Chiari (kee-r-ee)

January 2009
I started having all kinds of problems, but these problems were different.  I was dizzy, and my memory was really bad (worse than usual) the back of my head hurt where your neck and skull meet, like a headache... but just in that area. The pattern on the carpet (at work) would move up & down while I walked down the hallway.  My arms would go numb when I laid down to sleep, & I developed Sleep Apnea (due to the narrowing of my throat). Did I mention Dizziness??? Suddenly, I couldn't bowl anymore, I couldn't get my arms and feet to work together, I fell several times.  This is when I told my husband something was going on... And then, the one thing that made my family Dr order a MRI, I had lost the feeling in my left thigh, above my knee, on the outside, WEIRD!! My Dr actually thought I had MS. 

May 4, 2009 
I had a MRI. Come to find out I had developed a Chiari Malformation. That is a condition where your Cerebellum descends downward into your spinal canal. NOT GOOD!!  I suspect this happened because I still have my LP-Shunt in my spine.  It may not be working now, but when it did, I think on occasion it drained sooo much fluid that it caused  the descending cerebellum to occur. (I did some research on this.) I called a local Neurologist and made an appointment with him, bringing him my scans, with the report. Basically he was no help to me, and said I really don't know why your here. You need to see a Neurosurgeon... Now my neurosurgeon, on the other hand will not see a patient unless they have seen a neurologist first... Frustrating, I instantly call Dr Munoz's (neurosurgeon)office to make an appointment with him. LUCKY ME, he specializes in Chiari Malformations!! BONUS!! My husband takes me to Chicago to go see him, with my list of symptoms in hand... Scared to death! But freaking out because all the symptoms I had were making me feel like an 80 year old woman! I tell the Dr my story of how and when all this came about, he looked me right in the eyes and said, "some people have Chiari's, but with NO symptoms, these symptoms are obviously affecting your daily life, when do you want to schedule the surgery?" I had the MRI, saw two Dr's, & surgery all in May 2009.

May 29, 2009.
I had a Posterior Fossa Decompression. In layman's terms, they removed part of my skull in the back of my head, at the base, to allow the cerebellum "room". The cerebellar tonsils (the base of the Cerebellum) are what was being "pulled" down into my spinal canal, and was being smashed by my skull. So they remove part of the skull to allow room for it.  There's nothing they can do to reverse it, all they can do is help control the symptoms with the decompression surgery. Horrible, Horrible surgery...  He also took out my brain shunt to make sure it was working properly, and it was.  I remember shortly after the surgery telling my husband that I felt like someone shot the back of my head off with a shotgun! BADDD...MADD PAIN... I had never felt anything like it before. I've had my share of surgeries, Two Hysterectomies  (that's a whole different story), several scopes for Endometriosis, My Gallbladder removed, Appendix removed, knee surgery, but NOTHING compared to the Posterior Fossa Decompression Surgery...

Recovery was long. I was in the ICU for three days. The fourth day i was in a regular room, and had to have Physical & Occupational Therapy before going home.  Which was VERY interesting since that is what I do at work (an aide anyway). And the fifth day I was released to go home.  I slept in the car the whole way home, and anyone who knows me, knows that I cannot do that, EVER. But I was still pretty out of it. My husband tells me I threw up a few times on the way home, but I do not remember that.

I was throwing up for about a week straight after I was home, couldn't eat, could barely drink anything, even the smell of certain foods, ugh... I was not a happy camper. Then as I healed things started to get a little easier, the symptoms were going away, one by one, everyday.  My mom came and sat with me when Jeff had to go back to work, and Tiffany had to go to school. A few days later, I was moving around on my own, and didn't need a "babysitter".  A few weeks later, school was out, and I would take my cell phone (my daughter was home if I needed her) & the dog, and go for short walks, then I would go farther everyday to get my strength back. Soon I was walking a mile, two times a day, and was finally back to my old self, almost...

June 30, 2009
Me, being the superstar that I am, went back to work 4 weeks later... My boss was great, the first week back I only worked half days, the second week things were pretty much back to normal. I was just really tired. I look back at that now, and I should of stayed off work for 6-8 weeks... If I had to do it again, I would of stayed off work longer.

I still had headaches, the barometric pressures REALLY messed with my head after this surgery, I thought it was bad before... And the dizziness, and numbness dissipated. But the back of my head was sooo sensitive, it's now skin, Dura Matter (which is very thin), and Brain. Nothing there to protect it.

Then things were pretty good for a year and a half...

Part 2 ~ 2005 thru 2008

Much of 2005 went by without too much trouble, in October that year I went back to work. I worked for a dentist until the end of March 2006, then found a higher paying job with IncreMedical (Lakeshore Bone & Joint PT Office) I started working there April 3, 2006.

June 2006 my shunt quit working... OMG!!! I panicked, called Dr Gropper's office to try and get a referral.  His office (back then) was called CINN Chicago Institute of Neurosurgery & Neuroresearch.  They referred me to an amazing surgeon @ Rush in Chicago. Dr. Lorenzo Munoz. He was also part of CINN (back then, now his office is called University Neurosurgery). He said those LP Shunts were crap and that I need a VP Shunt (Ventricular Peritoneal [brain] Shunt) I was scared, but was finally back in the workplace, and wanted to continue working since I couldn't get Disability...

So first we did a Intracranial Monitor test where I had to get a hole drilled into my skull, and a monitor placed inside, it was not very comfortable, I had to be monitored for 3 or 4 days in the Neuro ICU @ Rush. They measured the intracranial pressure with all of my activities.  It was positive that my LP Shunt was NOT working.

June 2006, I underwent VP Shunt surgery. The shunt is in my right frontal lobe of my brain, and a tube runs behind my right ear, down my chest, and into my abdomen, where they anchored it.  Dr. Munoz [who looks like George Clooney] did an amazing job! I felt wonderful after about a week or so (I don't really remember recovering from that surgery) I just know that I wasn't off work very long.

December 2006, I had to have a revision on it, I think the shunt tubing was clogged if I remember right. It was just an overnight stay @ Rush, and recovery was only a couple weeks, as they only open my head, not my abdomen. They only shave about a 2" x 2" area. I have alot of hair, so it's easy to hide! 

I still suffered from Headaches, Migraines, Changes in the Barometric Pressure REALLY mess with my head.  If any storm is coming thru, I feel as if someone is squeezing my skull, besides the headache that comes with it! But I had a great job, and a great boss, who was very understanding.  I didn't need much time off, and rarely called off, and continued to work a 40hr week. Then 2009 came...

Beautifully Afflicted ~ The Invisibile Disability Story ~ Part 1

August 2003
That is when the headaches started.  The family Dr I was seeing at that time ordered a CT Scan, STAT.  The Scan was normal...  He gave me Vicodin, and Migraine medication... Chalked it up to stress, and Migraines. (I had never had a migraine before) I took some pain pills for the pain, but nothing made it better.  I just kept taking the pills, giving it time.  A month later, my eyes were killing me, no pain pill or migraine medication would make the eye pain go away... So I made an appointment With an Opthamologist (not an Optometrist) an actual EYE DR. Dr. Scott Cory (my personal hero) I told him about what had been going on with the headaches for a couple months now, and now the EYE pain that won't go away, accompanied with Swooshing in my right ear...Horrible, annoying swooshing, that NEVER stops.  He looked deep inside my eyes with all his elaborate machines and said, "You need to get a Spinal Tap!" He new right away, because my nerves were swollen that I had a condition called Pseudotumor Cerebri. Pseudo meaning "false" tumor-Cerebri meaning "brain"=False tumor in the brain... a.k.a. Intracrnial Hypertension & Hydrocephalus. OK... what does that mean? Your brain is reacting as if you have a brain tumor, there is sooo much Spinal fluid accumulating inside your skull that you brain thinks you have a tumor. Pain, Headaches, Migraines, Eye pain, Vision Loss, all these things came together, and made sense for the first time. (Your skull is a closed cavity, so when the fluid builds up there is no where for it to go.)

September 2003
I was diagnosed with Pseudotumor Cerebri...  So I make an appointment with a neurologist (who will remain nameless) and tell him my history, and what Dr Cory thinks.  We set up a spinal tap, I was scared to death of a needle going into my spine! But I was in sooooo much pain I was willing to do anything. So in September of 2003, I had my first spinal tap. INSTANTLY the swooshing in my right ear stops, as he's draining fluid the fluid into test tubes.  It was a  long time ago for me so I don't remember what my opening pressure was. I think it was 40 something, and normal is 12... So after a few days, after my brain recovered from all that intracranial pressure, the headaches were gone, the eye pain had dissipated.  A week goes by, and it all comes right back. The Dr tried treating it with Diamox, a water pill,  blood pressure medication, Topamax(which we called DOPEAMAX!) And about 4-5 other pills that I cannot even remember.  Needless to say, those things were not working.  I went back to the eye Dr for a follow up, told him how as soon as he started draining the fluid the swooshing in my ear stopped! And continues to tell him of all the med's he has put me on to control the "overabundance of fluid" but none of them were working, and now I'm BEGGING for another spinal tap because that was the only thing that made me feel better...
Dr Cory recommended that I see a Neurologist in Merrillville named Dr.Todd Janus, MD. I switched to him, I REALLY liked him, and he was familiar with my condition.  The first neurologist I saw, didn't know a thing about my condition... Anyway, LOVED Dr Janus.  After several trial & errors with medications, many spinal taps, CT scans, MRI's, MRA's, MRV's, tons of blood work, we still couldn't figure out how to CONTROL the amount of fluid my body was producing, or the fact that my ventricles were not absorbing the fluid and distributing it properly. A year has gone by since I was diagnosed, I had about 30 spinal taps during this time, as that was the only way to drain the excess fluid, and I was "let go" from my job... (he [a christian] could do that since there were only like 7 employees... I looked into it!) 
Dr Janus referred me to a Neurosurgeon to get a Lumbar Peritoneal Shunt implanted to drain the fluid from my head and drain it to my peritoneal cavity to be reabsorbed by my bloodstream.  Scary, but after meeting with Dr. Mitchell Gropper, MD @ Munster Community, Jeff and I agreed to do it.

November 2004,  I underwent surgery for a Lumbar-Peritoneal Shunt. A tube was placed in my spine (low back) around my right side and the actual shunt was placed in my abdomen (lower right quadrant) the surgery was a success. Very painful to have a tube placed into the spine, and tubing placed throughout my side, and the incision for the shunt placement was about 4 inches. Well my brain was under pressure for so long that after the surgery I was sooooo sick, almost like LOW PRESSURE headaches now... I was a mess, the Dr took me back to surgery the next day opened the shunt up and put in a different valve, one that didn't drain so much.  That was better. I went home the next day. All was better now, seemed that my eye's were back to normal, headaches were under control, the SWOOSHING was GONE!!! that was huge right there... That damn swooshing will drive someone nuts! A month later symptoms are coming back. 

December 2004, Dr Gropper opened up, just my abdomen (the shunt) and put in a wide open valve to drain the fluid. Come to find out that was the first valve that he originally put in... It was just too much too fast... My brain had been under pressure for over a year, that when he put in that wide open valve, it was just too much for me to handle! THEN... Right before Christmas, Dr. Mitchell Gropper DIED of a massive heart attack! He was only in his 40's.  His wife (his nurse) was 8 months pregnant. My Neurologist and him were really good friends. After spending alot of time figuring this out...It was sad to see the DR who finally was able to help me, die...

My luck had started to change, the shunt was working, and I was feeling better.  I had tried to apply for Disability, but was denied, twice.  Even after seeing the Dr's that Social Security wanted me to see, I was still denied.  There are not very many doctors that know about Pseudotumor Cerebri, Unfortunately...