Day 4: Cushing’s Awareness Challenge 2015

 

The above is the official Cushing’s path to a diagnosis but here’s how it seems to be in real life:

 

 

Egads!  I remember the naive, simple days when I thought I’d give them a tube or two of blood and they’d tell me I had Cushing’s for sure.

Who knew that diagnosing Cushing’s would be years of testing, weeks of collecting every drop of urine, countless blood tests, many CT and MRI scans…

Then going to NIH, repeating all the above over 6 weeks inpatient plus an IPSS test, an apheresis (this was experimental at NIH) and specialty blood tests…

The path to a Cushing’s diagnosis is a long and arduous one but you have to stick with it if you believe you have this Syndrome.

 

Cushing’s Awareness Challenge, Day 7

A Cushing’s diagnosis can be a long and frustrating event with testing, repeat testing, redoing testing.

Sometimes, I think that this was the path that some of my UFCs took on the way to my diagnosis:

 

cushie-diagnosis

 

It took three years from 1983 to 1986 before doctors would consider testing me for Cushing’s, even though I was sure that this was what my problem was.

My first 24-hour urine free cortisol was run by a Hematologist/Oncologist.  After that, things seemed to move a little better, if not faster.  That UFC got me to my first endo.

The Endocrinologist, of course, didn’t trust the other test so I was back to square one. He ran his own multitude of tests. He had to draw blood at certain times like 9 AM. and 5 PM. There was a dexamethasone suppression test where I took a pill at 10 p.m. and gave blood at 9 am the next day.

ufcI collected gallons of urine in BIG boxes (Fun in the fridge!). Those were from 6 a.m. to 6 a.m. to be delivered to his office by 9 a.m. same day. I was always worried that I’d be stopped in rush hour and the police would ask about what was in that big container. I did those daily for a week.

When the endo confirmed that I had Cushing’s in 1987 he sent me to a local hospital where they repeated all those same tests for another week and decided that it was not my adrenal gland (Cushing’s Syndrome) creating the problem. The doctors and nurses had no idea what to do with me, so they put me on the brain cancer ward.

When I left this hospital after a week, we didn’t know any more than we had before.

As luck would have it, NIH (National Institutes of Health, Bethesda, Maryland) was doing a clinical trial of Cushing’s. I live in the same area as NIH so it was not too inconvenient but very scary at first to think of being tested there. At that time I only had a choice of NIH, Mayo Clinic and a place in Quebec to do this then-rare pituitary surgery called a Transsphenoidal Resection. I chose NIH – closest and free. After I was interviewed by the Doctors there, I got a letter that I had been accepted into the clinical trial. The first time I was there was for 6 weeks as an inpatient. More of the same tests.

Six weeks of daily UFC testing.  To this day, I still remember nurses waking me just after 6 am to “close out your urine”.  Sounded like a bank account!

The testing pathway today looks a little more organized but it still takes far too long:

testing-cushings

 

 

What would Harvey Cushing say about Cushing’s disease today?

harvey-book

(BPT) – More than 80 years ago renowned neurosurgeon, Dr. Harvey Cushing, discovered a tumor on the pituitary gland as the cause of a serious, hormone disorder that leads to dramatic physical changes in the body in addition to life-threatening health concerns. The discovery was so profound it came to be known as Cushing’s disease. While much has been learned about Cushing’s disease since the 1930s, awareness of this rare pituitary condition is still low and people often struggle for years before finding the right diagnosis.

Read on to meet the man behind the discovery and get his perspective on the present state of Cushing’s disease.

* What would Harvey Cushing say about the time it takes for people with Cushing’s disease to receive an accurate diagnosis?

Cushing’s disease still takes too long to diagnose!

Despite advances in modern technology, the time to diagnosis for a person with Cushing’s disease is on average six years. This is partly due to the fact that symptoms, which may include facial rounding, thin skin and easy bruising, excess body and facial hair and central obesity, can be easily mistaken for other conditions. Further awareness of the disease is needed as early diagnosis has the potential to lead to a more favorable outcome for people with the condition.

* What would Harvey Cushing say about the advances made in how the disease is diagnosed?

Significant progress has been made as several options are now available for physicians to use in diagnosing Cushing’s disease.

In addition to routine blood work and urine testing, health care professionals are now also able to test for biochemical markers – molecules that are found in certain parts of the body including blood and urine and can help to identify the presence of a disease or condition.

* What would Harvey Cushing say about disease management for those with Cushing’s disease today?

Patients now have choices but more research is still needed.

There are a variety of disease management options for those living with Cushing’s disease today. The first line and most common management approach for Cushing’s disease is the surgical removal of the tumor. However, there are other management options, such as medication and radiation that may be considered for patients when surgery is not appropriate or effective.

* What would Harvey Cushing say about the importance of ongoing monitoring in patients with Cushing’s disease?

Routine check-ups and ongoing monitoring are key to successfully managing Cushing’s disease.

The same tests used in diagnosing Cushing’s disease, along with imaging tests and clinical suspicion, are used to assess patients’ hormone levels and monitor for signs and symptoms of a relapse. Unfortunately, more than a third of patients experience a relapse in the condition so even patients who have been surgically treated require careful long-term follow up.

* What would Harvey Cushing say about Cushing’s disease patient care?

Cushing’s disease is complex and the best approach for patients is a multidisciplinary team of health care professionals working together guiding patient care.

Whereas years ago patients may have only worked with a neurosurgeon, today patients are typically treated by a variety of health care professionals including endocrinologists, neurologists, radiologists, mental health professionals and nurses. We are much more aware of the psychosocial impact of Cushing’s disease and patients now have access to mental health professionals, literature, patient advocacy groups and support groups to help them manage the emotional aspects of the disease.

Learn More

Novartis is committed to helping transform the care of rare pituitary conditions and bringing meaningful solutions to people living with Cushing’s disease. Recognizing the need for increased awareness, Novartis developed the “What Would Harvey Cushing Say?” educational initiative that provides hypothetical responses from Dr. Cushing about various aspects of Cushing’s disease management based on the Endocrine Society’s Clinical Guidelines.

For more information about Cushing’s disease, visit www.CushingsDisease.com or watch educational Cushing’s disease videos on the Novartis YouTube channel at www.youtube.com/Novartis.

 

From http://www.jsonline.com/sponsoredarticles/health-wellness/what-would-harvey-cushing-say-about-cushings-disease-today8087390508-253383751.html

Botch-up Costs Doctor an Adrenal Gland

Chennai, India: The state consumer forum has asked a Coimbatore hospital to pay 15 lakh to a doctor whose adrenal gland was surgically removed after a botched-up diagnosis.

In May 2006, A Indumathi, an ophthalmologist, started showing symptoms like rapid weight gain, hypertension, joint pain, puffiness of face and fatigue. She approached Kovai Medical Centre & Hospital in Coimbatore, where the consultant endocrinologist conducted various tests. Her condition was diagnosed as Cushing’s syndrome, a hormonal disorder, and she was advised to undergo surgery for removal of the left adrenal gland.

On September 18, she was operated on. However, the symptoms persisted and the doctor told her it would take some more time to get relief. She waited three more months, but when her condition worsened, she approached the doctor again. He asked her to undergo another surgery for removing her right adrenal gland.

Not willing to take a chance, Indumathi approached Christian Medical College, Vellore, in December, where doctors told her she was suffering from Cushing’s disease, not syndrome. After a month of treatment, she recovered.

She then approached the state commission saying she was misdiagnosed and because of the wrong surgery, she has to regularly go for blood tests for the rest of her life and could develop life-threatening complications. She said she also incurred medical expense of around 5 lakh and had to leave her medical practice for six months.

Denying the charges, the hospital said tests conducted on her showed she was suffering from Cushing’s syndrome. She, being a doctor, was aware of the test reports and gave consent for surgery, it said.

The state consumer disputes redressal commission bench comprising its president Justice(rtd )RRegupati and judicial member J Jayaram, in a recent order, said after a wrong diagnosis and surgery, the hospital should have been more diligent in reassessment but instead suggested removing the right adrenal gland. The bench said the hospital wrongly diagnosed her and removed “a precious, healthy adrenal gland.”

Stating it was a case of “gross negligence and deficiency in service,” the bench asked the hospital and two doctors to pay Indumathi 4 lakh towards medical and travelling expense, 1 lakh for loss of professional income and 10 lakh for “lifelong mental agony.”

From http://timesofindia.indiatimes.com/city/chennai/Botch-up-costs-doctor-a-gland-hospital-fined-Rs-15-lakh/articleshow/29925290.cms

NIH: An Open-Label Study of The Safety, Pharmacokinetics and Pharmacodynamics of Mifepristone in Children With Refractory Cushing’s Disease

This study is currently recruiting participants.

Summary

Number 13-CH-0170
Sponsoring Institute National Institute of Child Health and Human Development (NICHD)
Recruitment Detail Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 6
Max Age: 17
Referral Letter Required No
Population Exclusion(s) None
Special Instructions Currently Not Provided
Keywords Child;
Cushing Syndrome;
Metabolism;
Mifepristone;
Pharmacokinetic-Pharmacodynamic
Recruitment Keyword(s) None
Condition(s) Cushing’s Syndrome;
Cushing Syndrome
Investigational Drug(s) Mifepristone
Investigational Device(s) None
Intervention(s) Drug: mifepristone
Supporting Site National Institute of Child Health and Human Development

Background:

– There are currently no approved therapies for children with Cushing’s disease who are not cured by surgery alone. A drug called mifepristone has been approved to treat adults with Cushing’s syndrome and elevated blood glucose caused by Cushing’s. The drug is marketed under the name Korlym(Registered Trademark). The study drug may have a different effect on a child’s body than an adult’s, so researchers want to know how much of the drug to give children and what effect it will have. They want to learn if mifepristone improves Cushing’s disease in children as it does in adults. They also want to know about the drug’s side effects in children.

Objectives:

– To study the effect of a medication called mifepristone in children with Cushing’s disease that has not been helped by pituitary surgery.

Eligibility:

– Children ages 6 to 17 with active Cushing’s disease following pituitary surgery and who have a body weight higher than expected for their height and age.

Design:

– Participants will be screened for up to 8 weeks with a physical exam, medical history, and medical tests including blood tests and X-rays.

– Participants will take tablets of the study drug each day for 12 weeks.

– Participants will stay at the clinic for 4 nights at the beginning of the study. They will have three 1-day visits during the study. They will stay at the clinic the last 3 days of the study.

– At these visits, participants will be given several tests. In one test, a small wire is inserted under the skin of the belly and a small monitor is attached taped to the belly. In another, the participant drinks a liquid and blood samples are taken.

– Follow-up visits will occur 4 weeks and 12 weeks after the study ends.

–Back to Top–

Eligibility

INCLUSION CRITERIAPatients who are eligible for enrollment must meet the following eligibility criteria:

– Males and females 6-17 years at informed consent

– Active Cushing’s disease as demonstrated by the following:

–24 hour Urinary Free Cortisol greater than the upper limit of normal for age on two urine collections during screening and

— midnight serum cortisol > 4.4 mcg/dL (mean of two determinations on a single day at 2330 and 2400 during screening)

– Previous trans-sphenoidal surgery (TSS) for ACTH secreting pituitary tumor at least 3 months prior to screening

– Increased body weight defined by BMI Z-score of 1.5 or above

– Able to provide consent/assent

– Able to swallow study drug tablets (not crushed or split)

– Willing to use non-hormonal method of contraception in patients of reproductive potential

– Primary health care provider in home location

EXCLUSION CRITERIA:

– Hypercortisolism not due to Cushing’s disease.

– Type 1 diabetes mellitus

– HbA1c geater than or equal to 9.5% at Screening

– Body weight < 25 kg

– Use of certain medications that are CYP3A substrates with narrow therapeutic ranges, such as simvastatin, lovastatin, cyclosporine, dihydroergotamine, ergotamine, fentanyl, pimozide, quinidine, sirolimus, and tacrolimus during the 4 weeks prior to starting study drug. Use of these medications is also prohibited until 2 weeks after end of dosing.

– Use of certain medications that are strong CYP3A inhibitors such as itraconazole, nefazodone, ritonavir, nelfinavir, indinavir, atazanavir, amprenavir, fosamprenavir, boceprevir, clarithromycin, conivaptan, lopinavir, mibefradil, posaconazole, saquinavir, telaprevir, telithromycin, and voriconazole during the 2 weeks prior to starting study drug.

Use of these medications is also prohibited until 2 weeks after end of dosing. Grapefruit and grapefruit juice are prohibited during this time frame.

– Use of certain medications that are strong inducers on CYP3A such as rifampin, rifabutin, rifapentin, phenobarbital, phenytoin, carbamazepine, St. John’s wort during the 2 weeks prior to starting study drug. Use of these medications is also prohibited until 2 weeks after end of dosing.

– Use of medications used to treat hypercortisolism from the duration indicated below prior to Day 1. Use of the medications is also prohibited until after the end of study 4 week follow up visit.

–steroidogenesis inhibitors such as ketoconazole, metyrapone: 4 weeks

–cabergoline, bromocriptine, somatostatin analogs such as octreotide, lanreotide, pasireotide long acting formulations: 8 weeks (immediate release formulations: 2 weeks)

–mitotane: 8 weeks

– Use of systemic glucocorticoid medications beginning 1 month prior to screening or anticipated use of these medications except for the treatment of adrenal insufficiency. Use of glucocorticoid medications is prohibited during the study until after the end of study 4 week study visit.

– Inflammatory, rheumatological, proliferative or other disorder(s) that would be anticipated to worsen with glucocorticoid blockade (e.g. inflammatory bowel disease, rheumatoid arthritis, psoriasis, etc.).

– Uncontrolled hypo- or hyperthyroidism.

– Uncorrected hypokalemia (< 3.5 mEq/L). The screening period may be used to correct hypokalemia prior to starting study drug. Use of potassium and/or mineralocorticoid antagonists is permitted during the study.

– QTc geater than or equal to 450 msec on Screening electrocardiogram

– Unexplained vaginal bleeding in females and/or any history of endometrial pathology.

– Positive pregnancy test in females.

From http://clinicalstudies.info.nih.gov/cgi/detail.cgi?A_2013-CH-0170.html

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