Cushing’s on Capitol Hill: Cushing’s Awareness Challenge

Posted on April 18, 2013 by MaryO

Earlier this year, I got this email:

Good morning Mary:

I hope everything is well.

I would like to invite you to join us at the Rare Disease Congressional Caucus briefing scheduled for April 2013. The final date is still being discussed but we are looking into two possible dates of either April 16th or April 18th. The meeting will take place in Washington, D.C. and will be attended by members of the Rare Disease Caucus including co-chairs Rep. Joseph Crowley and Rep. Leonard Lance.

As you may know Rare Disease Congressional Caucus is a forum for members of Congress to voice constituent concerns, share ideas, and build support for legislation that will improve the lives of people with rare diseases. The goal of the meeting in April is to educate the members of the Caucus about rare pituitary disorders, including Cushing’s Disease – area that has received little to no recognition among legislators. The meeting will serve as an opportunity to raise legislators’ awareness about multiple issues that patients with rare pituitary diseases, such as Cushing’s disease and Acromegaly, face in their everyday lives.

In preparation for the meeting we drafted a Resolution that addresses some of the key challenges for the patient community including long diagnostic delays, limited treatment options, difficulty finding physicians or treatment centers with expertise in their disease and as a result – a  diminished quality of life for patients. Would you be willing to have a look at the draft in the attachment and provide your feedback? Your opinion as a leader of the patient community and expert in Cushing’s disease would be highly appreciated.

I sincerely hope that you will be able to join us at the meeting to share your perspective and talk about the work that you are doing to help patient afflicted by Cushing’s disease live happier and healthier lives.

Please feel free to call or email anytime if you have questions or if you would like to discuss this further. I look forward to hearing back from you soon.

Attached to the email was the House of Congress Resolution.  Read it here.

I got back quite quickly and said that I would love to attend.  If it was on the 16th, I could go, no problem.  If it was the 18th, probably not because I had plane tickets that day to attend the Magic Foundation Conference in Las Vegas.

In late March, I needed to make my final decision on Las Vegas.  I had been waffling about that trip for a while since my husband had surprise triple bypass surgery in late January.  When I made the decision not to go, he still couldn’t drive or walk the dog – and I was just afraid to leave him alone for 5 days.

caucus1

caucus2

As it turned out, the date was a non-issue since the Congressional Caucus would be on the 16th.

April 15 was a terrible day as news of the Boston Marathon came in.  Security was stepped up in several cities, including Washington, DC.

I looked online to see if the Caucus would be cancelled and found out that the 16th was Emancipation Day in DC – and the main route that I would take to get there would be closed for a parade.

I was already getting very nervous about the whole thing and not knowing how to get there added to the stress levels.

I had my talk printed out with 3 different places to stop, depending on the time.

We left about 10AM for a noon meeting.  I’d decided to park at the train station and take a taxi to the Rayburn House Office Building.

When we got to the Rayburn Building, there was a long line of folks waiting to get in.  I don’t know if they only open the front door at certain times but when the line started to move, it went fairly quickly.  They took 5 at a time through security then we were on our own to find out where to go.

It turned out that our meeting room – 318 – is the room usually used for the Ways and Means Committee.  We got there just about 11:30.  Robert Knutzen from the Pituitary Network Association was already there as was Alexey from Novartis.  Alexey said “Mary?” and I said “Alexey?” and we introduced ourselves.  I already knew Bob from several past meetings so the four of us just chatted a bit while others started arriving.

I had brought quite a few Cushing’s brochures with me and had planned to hand them out to people but Julia from the RDLA (Rare Disease Legislative Advocates) showed me a table where I could leave them for folks to take on their own – and quite a few did.  If they read them, that’s another story!

Right around noontime, lots of people came in.  Some were staffers gathering information to take back to their offices, many others were from rare disease organizations, a few were legislators.  It was standing room only and we estimated there were maybe 120-140 people there.  Only two were known pituitary patients:  Bob with Acromegaly and me with Cushing’s.  Bob mentioned the statistic again “1 in 5” so at least 24 others in that room should have had a pituitary tumor…

Representative Leonard Lance (NJ) spoke a bit about the need to recognize rare diseases in this country.  He mentioned that there were 7,000 rare diseases and it was important to focus on getting awareness for patients with them.  This Caucus focused on the pituitary, although only 2 pituitary diseases were represented.

Vijay Iyengar, Vice President the Rare Disease Franchise of Novartis oncology talked about their two drugs to either cure disease or improve quality of life through a  3-pronged approach:

  • Targeted research
  • Open collaboration
  • Patient inspired solutions

Novartis created the Rare Disease Franchise was recently created as a means of strengthening their involvement and has two drugs with FDA approvals, one for Cushing’s and one for Acromegaly. Their Acromegaly drug is 25 years old and their newest, Signifor, was approved on the anniversary of the discovery of Cushing’s Disease (December 2012) and three new applications are in the approval pipeline.

These diseases are rare because not many people have them and not much knowledge is available about them.

He also said he needs collaborative partners, particularly with Cushing’s.  He would like to have Clinical Trial centers.  However, usually enough patients are near one or two centers.  With Cushing’s, there would need to be 40 or more centers.  We talked to Vijay after the Caucus about this and connecting his company with Cushing’s patients.

Emily Acland, although not a Cushing’s patient, summed up some of the symptoms based on her contacts with patients through the Patient Access Network.

Alexey Salamakha, Manager of Rare Disorders for Novartis/Public Affairs and Communications,  read some thoughts on the need for disability benefits from Donna of John’s Foundation for Cushing’s Awareness.  This included the the fact that veterinarians are more knowledgeable about Cushing’s than endocrinologists. He talked about patient advocacy.

Alexey specifically mentioned me and thanked me for my work.

Bob Knutzen was not diagnosed until the age of 52.  He is currently 75.  He expressed his desire to have Centers of Excellence for Hormonal Health with the funds coming from NIH’s budget.

Pituitary disease isn’t rare, just the diagnosis. He also pointed out that pituitary patients generally die 10 years early.  Without treatment, pituitary patients can’t have children.

If I didn’t know what acromegaly was before this meeting, I wouldn’t have known when I left, either.

Sean O’Neil, Vice President at Novartis made comments about his company and what was being done to help patients.

Other topics during this Caucus were:

  • The issues of Cortisol withdrawal
  • Congressmen Snyder and Runyon proposed H con resolution 31 “Supporting Rare Pituitary Disease Awareness”.  Track this resolution through the Committee, House and Senate
  • The need for awareness of pituitary gland diseases
  • There are lifetime changes – people may be cured/in remission but they’re never the same
  • The possibility of a dipstick for cortisol similar to ones diabetics use
  • Faster diagnosis

My contribution to all this was speed of diagnosis.  I told a bit of my story, diagnosing myself in the pre-Internet 1980’s and how today, 26 years later, people are still having issues with diagnosis and wasting on average 6-20 years just getting to surgery.  I mentioned that I knew a few people who went for 20 years before getting diagnosed.

After the Caucus was over, there was a lot of discussion, and I talked with several people who had questions about my experiences, Cushing’s Help, what could be done to raise awareness…

Will anything come of it?  I don’t know but maybe some folks will start thinking a bit more.

From Tom, on Facebook:

Mary did a great job presenting the Cushings story at the April 16 hearing of the Congressional Caucus on Rare Diseases – Challenges our Country Must Address. Co- chairs Congressman Joe Crowley (D-NY) and Congressman Leonard Lance (R-NJ) both attended and endorsed the good work being done in this effort. Mary spoke with many of the sponsors and others both before and after the hearing discussing her personal experience. Mary has created multiple websites to get the message out on rare diseases especially Cushing’s Syndrome. That effort now extends to more than 40 countries and more than 10,000 participants. We will be doing follow ups with the Congressional Caucus on Rare Diseases and with Novartis, RDLA, EveryLife, Patient Access Network, the Pituitary Network Association and others to build on the gains.

And another email:

Dear Mary,

It was a pleasure to meet you and Tom today. Thank you for attending the Rare Disease Congressional Briefing. I think you did an excellent job by sharing your unique perspective on what a life with Cushing’s disease is like. I want to thank you for supporting our mission and educating general public about pituitary disorders. We at Novartis strongly believe that patient advocacy organizations such as Cushing’s Help and Support and passionate advocates like you are the future and the hope of the Cushing’s community.

As a follow up to our conversation I have reached out to my contacts at NORD and asked if they can help with filing for a 501(c)(3) status. I will keep you posted. Please stay in touch.

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Cushing’s Syndrome, Prostate Cancer and Adrenocortical Carcinoma

Posted on March 11, 2013 by MaryO

Orphagen has identified and characterized small molecule antagonists to steroidogenic factor-1 (SF-1). SF-1 binds to and regulates DNA promoter elements in the major transporters and enzymes required for adrenal steroid synthesis. It is also required for development of the adrenal gland. SF-1 antagonists inhibit cortisol secretion in adrenal cells and have potential application in two orphan indications, Cushing’s syndrome and adrenocortical carcinoma. In addition, SF-1 appears to have an important role in the progression of advanced prostate cancer.

 

cushings-adrenocortical-crop

 

Cushing’s syndrome:
An estimated 20,000 people in the US have Cushing’s, with more than 3,000 new cases diagnosed each year. The incidence is similar in Europe. Cushing’s syndrome disproportionately affects females, who make up about 75% of the diagnosed cases. Symptoms of Cushing’s syndrome can include obesity, diabetes, psychiatric disorders, osteoporosis and immune suppression. Cushing’s syndrome is caused by elevated secretion of cortisol from the adrenal gland, in association with pituitary, adrenal or other cancers.

Orphagen has identified small molecule antagonists to SF-1 that have the potential to suppress cortisol levels in all Cushing’s patients without serious side effects.

Adrenocortical carcinoma (ACC):
ACC is a rare malignancy with an extremely poor prognosis (5-year overall survival: 37-47%). Complete surgical resection offers hope for long-term survival but surgery is not an option in up to two-thirds of patients because metastasis has usually occurred by the time of diagnosis.

SF-1 is recognized as a potential mechanism-based therapeutic target for control of ACC and an SF-1 antagonist could be used in the treatment of ACC.

Pediatric ACC:
Pediatric ACC is a very rare but aggressive cancer with a long-term survival rate of about 50%. Approximately 60% of children with adrenocortical tumors are diagnosed before the age of four. The SF-1 gene is amplified and SF-1 protein is overexpressed in the vast majority of childhood adrenocortical tumors strongly implicating SF-1 in pediatric adrenocortical tumorigenesis.

Castration resistant prostate cancer (CRPC):
CRPC is the most common cancer in males. Surgery is not an option if the cancer has spread beyond the prostate gland, at which point patients typically receive hormonal therapy, essentially chemical castration. This course of therapy usually fails within two years, resulting in castration resistant prostate cancer (CRPC). Most patients eventually succumb to CRPC, which is the second leading cause of cancer deaths in men.
SF-1 antagonists may: (1) block the adrenal androgens that circumvent chemical castration, and are a primary cause of CRPC; and (2) inhibit synthesis of androgens within the prostate tumor itself, where SF-1 may control induction of enzymes for de novo androgen synthesis in treatment-resistant cancers.

From http://www.orphagen.com/research_cushings.html

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Cushing’s on the Dr. Oz Show!

Posted on December 19, 2012 by MaryO

More than 150 staff members will receive the BRAVO! Team Values in Action Award for their collaborative efforts when The Dr. Oz Show came to videotape an inspirational patient story at Ohio State’s Wexner Medical Center.

Lori Burkhoff (Cushings-Help board member cmondwn), a 34-year-old mother from Long Island, NY, who came to Ohio State seeking a cure for Cushing’s disease, will be featured on The Dr. Oz Show along with Neurosurgeon Daniel Prevedello, MD, and Otolaryngology (ENT) Surgeon Ricardo Carrau, MD.

With only four days notice, staff members at Ohio State’s Wexner Medical Center and James Cancer Hospital and Solove Research Institute collaborated to make this visit a success for all — the patient and The Dr. Oz Show video crew.

Along with Collaboration, the Ohio State team also demonstrated the values of Leadership and of Acting with Integrity and Personal Accountability, as they worked to ensure the patient’s safety while accommodating the video crew.

Staff directly involved with this project spanned a broad spectrum of departments, including Admissions, Ambulatory Surgical Unit, Anesthesiology, Housekeeping, Pre-Op, Operating  Room, PACU/Post-Op/ Recovery, In-patient recovery on 7 East James, Marketing and Strategic Communications, Nutrition Services, Patient Experience, Security, and Media Relations.

Each year, our Media Relations team routinely handles hundreds of media escorts and requests for interviews with our expert staff members. But there was nothing routine about this media request. For starters, TV celebrity Dr. Oz would be on site for the entire shoot, starting at 5:30 a.m. Sept. 17, chronicling Burkhoff’s efforts to be cured of a debilitating disease she has battled since she was a teenager. Media Relations staffers escorted the crew throughout the visit.

Cushing’s disease is caused by the pituitary gland releasing too much adrenocorticotropic hormone (ACTH).  People with Cushing’s disease accumulate an excessive amount of ACTH, and this stimulates the production and release of cortisol, which is a stress hormone. If left untreated, Cushing’s disease can cause severe illness and even death.

In Burkhoff’s case, despite three previous surgeries to remove benign tumors on or near her pituitary gland, the disease had returned with a vengeance, causing her to gain weight and putting her at risk for diabetes, stroke, high blood pressure and heart disease, among other complications.

In an effort to raise awareness about the often-misdiagnosed Cushing’s disease, Burkhoff had contacted The Dr. Oz Show.

In the meantime, she learned about the innovative surgical procedure performed at Ohio State. Burkhoff met with Prevedello, the Ohio State neurosurgeon who works in tandem with ENT surgeon Ricardo Carrau, to perform endoscopic endonasal surgery. This is a minimally invasive neurosurgical technique that gives surgeons access to the base of the skull, intracranial cavity and top of the spine by operating via the nose and paranasal sinuses.

Prevedello is one of only a few neurosurgeons worldwide trained in this approach that leaves no facial incisions or scarring, causes less trauma to the brain and nerves, has fewer side effects and results in quicker recovery times.

Burkhoff and the surgeons agreed to be videotaped “documentary style” — meaning that Dr. Oz wanted to capture everything that happened to Burkhoff leading up to and including her surgery. Cameras were rolling at 6 a.m. when Dr. Oz warmly greeted Burkhoff as she walked through the main lobby doors of Rhodes Hall.

Dr. Oz and his video crew remained with Burkhoff as she was admitted to the hospital and during a pre-op discussion with her surgeons in the Ambulatory Surgical Unit. They were with her during the 2.5-hour surgery in University Hospital OR 16, and they followed her into the Post Anesthesia Care Unit recovery area after surgery. By noon, Dr. Oz had departed and the video crew had called it a “wrap.”

During the surgery, Prevedello removed two benign tumors near the pituitary gland. However, Burkhoff did not respond as well as doctors had hoped.

Within a few days, Prevedello and Carrau decided to schedule an unprecedented fifth surgery on Sept. 22.

Even though Dr. Oz couldn’t make it back for the fifth and final surgery, his video crew arrived at 6 a.m. on a football home-game Saturday. The crew interviewed Burkhoff and the surgeons before the four-hour surgery, and the surgeons again after the operation. This surgery proved successful, and Burkhoff continues to improve.

Prevedello and Carrau, members of Ohio State’s Cranial Base Center, will join Burkhoff on the set of The Dr. Oz Show in New York City to share her inspirational story with an international audience during an episode slated to air on Thursday, December 20, 2012.

 

More information at http://oncampus.osu.edu/pdf/Insight10-18-12.pdf

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A Quarter of a Century

Posted on November 3, 2012 by MaryO

I had my one, and only, pituitary surgery on this date in 1987.  Of course, I was trying to get a diagnosis for several years before that.

I know it’s hard to get a diagnosis now – imagine how hard it was over 30 years ago – before the Internet, Facebook, Twitter, message boards, chatrooms.  No online support – no support anywhere.

Finding any information possible at the Public Library.  Days that you feel like death warmed over, heading out to the library to Xerox medical articles you don’t understand, poring over them at home, trying to find any kernel of hope for what you have.  Then trying to convince doctors when your family doesn’t even believe you.

Finally, a doctor believes you…but he’s the wrong kind of doctor so he sends you away.  Another year goes by.  The endo recommends surgery but there are only 3 possibilities anywhere.  NIH – close by and free, Montreal – they speak French – and San Francisco.

After a diagnosis, 6 weeks of inpatient testing at the NIH.

From my bio at http://www.cushings-help.com/maryos_story.htm

There were about 12 of us there and it was nice not to be alone with this mystery disease. Many of these Cushies (mostly women) were getting bald, couldn’t walk, having strokes, had diabetes. One was blind, one had a heart attack while I was there. Towards the end of my testing period, I was looking forward to the surgery just to get this whole mess over with. While I was at NIH, I was gaining about a pound a day!

The MRI still showed nothing, so they did a Petrosal Sinus Sampling Test. That scared me more than the prospect of surgery. (This test carries the risk of stroke and uncontrollable bleeding from the incision points.) Catheters were fed from my groin area to my pituitary gland and dye was injected. I could watch the whole procedure on monitors. I could not move during this test or for several hours afterwards to prevent uncontrolable bleeding from a major artery. The test did show where the tumor probably was located. Also done were more sophisticated dexamethasone suppression tests where drugs were administered by IV and blood was drawn every hour (they put a heplock in my arm so they don’t have to keep sticking me). I got to go home for a weekend and then went back for the surgery – the Transsphenoidal Resection. I fully expected to die during surgery (and didn’t care if I did) so I signed my will and wrote last letters to those I wanted to say goodbye to. During the time I was home just before surgery, a college classmate of mine (I didn’t know her) did die at NIH of a Cushing’s-related problem. I’m so glad I didn’t find out until a couple months later!

November 3, 1987, the surgeon, Dr. Ed Oldfield, cut the gum above my front teeth under my upper lip so there is no scar. He used tiny tools and microscopes. My tumor was removed successfully. In some cases (not mine) the surgeon uses a plug of fat from the abdomen to help seal the cut. Afterwards, I was in intensive care overnight and went to a neurology ward for a few days until I could walk without being dizzy. I had some major headaches for a day or two but they gave me drugs (morphine) for those. Also, I had cotton plugs in my nostrils. It was a big day when they came out. I had diabetes insipidus (DI) for a little while, but that went away by itself – thank goodness!

I had to use a foam product called “Toothies” to brush my teeth without hitting the incision. Before they let me go home, I had to learn to give myself an injection in my thigh. They sent me home with a supply of injectible cortisone in case my level ever fell too low (it didn’t). I was weaned gradually off cortisone pills (scary). I now take no medications. I had to get a Medic Alert bracelet. I will always need to tell medical staff when I have any kind of procedure – the effects of my excess cortisone will remain forever.

I went back to the NIH for several follow-up visits of a week each where they did all the blood and urine testing again. After a few years NIH set me free. Now I go to my “outside” endocrinologist every year for the dexamethasone suppression test, 24-hour urine and regular blood testing.

As I get further away from my surgery, I have less and less chance that my tumor will grow back. I have never lost all the weight I gained and I still have the hair on my chin but most of my other symptoms are gone. I am still and always tired and need a nap most days. I do not, however, still need to take whole days off just to sleep.

I consider myself very lucky that I was treated before I got as bad as some of the others on my floor at NIH but think it is crazy that these symptoms are not taken seriously by doctors.

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Cushing’s, The “Gift” that Keeps on Giving

Posted on October 9, 2012 by MaryO

I had an eye doctor appointment yesterday. No problems, just a routine check, maybe update my contacts to a newer version.

I was completely not ready when the doctor said “cataracts” to me. Say what? I’m not that old.  He mentioned a few other things like macular degeneration but that was less distressing to me somehow than the Cataract Word.

They’re not bad yet.  They’re slow growing.  I won’t need to do anything about them for 7-8 years.  AARRGGHH!

My mother is waiting for her cataract surgery.  Maybe we can do this together, a bonding thing.

When I got home and all the eye drops had worn off, I looked at the brochures he had given me.  One of the symptoms was light insensitivity.  So that explains why I have trouble first thing in the morning and it hurts to open my eyes and other bright lights can be painful.  It’s nice to be validated but…

Then, I turned the page to find contributing factors and came upon the word STEROIDS.  Not again!  Almost all the problems in my life start with the word steroids.  I did a search of the Cushing’s Help boards for “Cataracts” and came up with 84 entries.  How could I have missed this?

From Cigna.com:

The eye conditions glaucoma and cataracts also may occur in Cushing’s syndrome. In Cushing’s disease (tumors on the pituitary gland), your field of vision can be affected. You may have loss of side, or peripheral, vision.

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