The Cushing's Support and Research Foundation 65 E. India Row, #22B, Boston, MA www.CSRF.net

September 29, 2007
To Whom It May Concern:

This communication is being written in response to the request for comments in the Federal Register on improving the SSI disability process. The Cushing's Support and Research Foundation (CSRF) is a non-profit organization providing support and information to patients and families affected by endogenous Cushing's. The CSRF has a Medical Advisory Board comprised of expert endocrinologists and neurosurgeons and is an Associate Member of NORD and The Endocrine Society. The CSRF often hears from patients who have been denied SSI and are preparing for their disability hearing. Most of these patients express frustration about how little the SSA understands about Cushing's. The symptoms of Cushing's and the severity of symptoms vary widely between patients. Thus, we are not certain that a list of specific impairments or symptoms and their associated severity can be developed to ease the disability process. Our concern in developing such a specific list, is that patients that have variations in the symptoms would be denied because they do not "fit the mold". Not all patients with Cushing's would qualify for disability. Thus, our goal in writing this response is to provide some general thoughts on Cushing's as it relates to disability, to provide some general information on Cushing's, to identify some of the symptoms and severity that can contribute to disability, and to provide a list of "expert" physicians who given adequate time, might be able to generate some specific impairments and associated severity.

General Thoughts on Cushing's Related to Disability
Endogenous Cushing's is defined as a Rare Disorder and has an estimated incidence rate of 5-25 per million of population/year. Since Cushing's is a Rare Disorder, many primary care physicians and even endocrinologists are unfamiliar with the diagnosis, treatment and recovery required. Many patients with Cushing's go undiagnosed for many years prior to receiving a correct diagnosis, simply because it is a rare disorder and symptoms overlap ailments that are common in the general population. Once diagnosed, many patients are faced with requesting support for disability from physicians who have little knowledge of the disorder. Thus, we have 2 thoughts:

1. Perhaps a different disability procedure for Rare Disorders that utilizes expert physicians would be useful.

2. Because Cushing's is difficult to diagnose and can lead to disability, we are certain that there are undiagnosed cases among those currently on disability. For example, recent studies have found that approximately 5% of poorly controlled diabetics actually have Cushing's. Other potential high-risk populations such as those with osteoporosis, high blood pressure and obesity are currently under study. A study is also underway to determine if certain combinations of clinical symptoms might be useful in identifying patients who should be tested. The SSA could provide valuable assistance to patients looking for a diagnosis if records could be screened for the possibility of Cushing's during the disability application process. Perhaps personnel doing medical evaluations for the SSA could be further educated on Cushing's. We are certain that a panel of experts could identify subsets of patients that should be tested for Cushing's.

General Information on Cushing's
It is not necessary to provide a detailed description of Cushing's in these comments. More information can be obtained from the medical literature, our web site at www.CSRF.net, and NIH Publication #02-3007, June, 2002, which can also be found at www.CSRF.net - About Cushing's - Fact Sheet. Generally, endogenous Cushing's is caused by exposure to too much cortisol due to a pituitary tumor, or an adrenal or ectopic tumor.

Symptoms and Severity
A list of symptoms can be obtained from a recent publication - Long-Term Impaired Quality of Life in Cushing's Syndrome despite Initial Improvement after Surgical Remission, JCEM 91(2):447-453 (attached). If Cushing's progresses beyond a mild form, most all patients complain of weight gain, a redistribution of fat to the face and the upper back (buffalo hump) resulting in extreme changes in their appearance. In the majority of cases, Cushing's begins with mild symptoms and if left undiagnosed and untreated, both physical and mental symptoms progress to severe.

During Cushing's, symptoms that can lead to disability, include fatigue, sleep disorders, depression and a multitude of associated mental changes such as mood swings, tearfulness, anxiety, etc. Cushing's can also dramatically influence a person's ability to concentrate and remember things, thus patients can have problems dealing with everyday life due to cognitive difficulties. Physically, patients can become extremely weak due to muscle atrophy and have difficulty walking short distances, rising from a chair or climbing any stairs, which can severely limit daily activities. Often, a combination of physical and mental symptoms contribute to disability.

After treatment of Cushing's, patients require a period of time on replacement medication before their own HPA axis begins to function appropriately. Most experienced endocrinologists and neurosurgeons put the recovery time frame somewhere between 1 year and 18 months. Some patients have little difficulty during the recovery time period, while others have severe fatigue, weakness, pain and depression that can dramatically influence daily functioning. While most patients do improve during this time frame, some struggle with attempting to discontinue replacement medications for much longer. At the present time, it is not known why some patients recover much easier than others, but perhaps it could be associated with the length of time someone had Cushing's and perhaps age plays a role.

While it is well demonstrated that following appropriate treatment, Cushing's patients do improve, it is also widely recognized that not all symptoms resolve completely or may required extended periods of time. This is true for bone strength, mental function due to brain atrophy, diabetes, hypertension and muscle weakness, all of which can be objectively measured. In a survey of CSRF members done in 2002 (not published) only 36% of Cushing's patients reported no residual symptoms, with the most common residual symptoms being fatigue, weakness, and mental/emotional issues. The severity of the remaining symptoms will determine if disability continues.

The above pertains to those patients who are successfully treated. In cases where the pituitary tumor cannot be surgically removed or an ectopic tumor cannot be identified, patients are faced with longer periods of time to endure symptoms.

Expert Physicians
The CSRF supports the consultation of expert physicians during all phases of Cushing's. Those physicians listed on our Medical Advisory Board are known to be excellent in their field and well respected by their peers. There are also additional expert physicians listed at www.CSRF.net - Cushing's Doctors. A number of our Medical Advisory Board physicians have provided input to this document and particularly agree that a different disability procedure for Rare Disorders that utilizes expert physicians would be helpful.

Thank you in advance for your consideration. Please let us know if we can be of further help.
Sincerely,

Need Help With Insurance?

Patient Services Incorporated is a non-profit organization that can provide assistance in answering insurance questions and locating affordable insurance. While Cushing's is not one of the disorders covered in their financial assistance plans, their web site contains valuable information.

1-800-366-7741
www.uneedpsi.org

Links

Your Legal Rights If You Become Seriously Ill
Barbara Ullman Scherin, Esql, Loyola Law School

Addison's Disease Self Help Group (Adrenal Insufficiency): This UK patient support group website has very useful information about daily cortisol replacement doses as well as the dosages needed for surgery or emergencies. http://www.addisons.org.uk/index.html

National Institute of Health: www.nih.gov

National Organization of Rare Disorders - NORD: www.rarediseases.org Provides information on rare disorders, government regulations, travel assistance for patients, etc.

National Library of Medicine: You can do your own search of the medical literature through www.ncbi.nlm.nih.gov. Select PubMed from the menu and enter Cushing as your search criteria.

Clinical Trials and Research: You can find clinical trials or clinical research on Cushing's by visiting www.clinicaltrials.gov and using Cushing as a search criteria.

Search MEDLINEplus® brings together, by health topic, authoritative information from NLM, the National Institutes of Health (NIH), other government, non-profit and other health-related organizations. Preformulated MEDLINE searches are included in MEDLINEplus and give easy access to the medical research literature. It also provides you with a database of full-text drug information and an illustrated medical encyclopedia.

www.endocrineweb.com/index.html: Detailed but easy to understand pages on endocrine disease, conditions, hormone problems, and treatment options including all types of thyroid, parathyroid, and adrenal surgery. All pages were written by physicians who treat these diseases.

MEN1 Support:
ACOR, (Association of Cancer Online Resources), is very pleased to announce a new MEN1 (Multiple Endocrine Neoplasia Type 1) information and support e-mail list. This list was created to offer caring, support, guidance, and up-to-date information on living and coping with Multiple Endocrine Neoplasia Type 1 (MEN1). All are welcome to join. http://listserv.acor.org/archives/men1.html

Addison's Disease (Adrenal Insufficiency) National Adrenal Disorders Foundation: www.medhelp.org/www/nadf.

Adrenal Cancer - More Resources specific to Adrenal Cancer

Adrenal Incidentalomas: The evaluation and treatment of accidentally discovered adrenal tumors was the subject of an NIH consensus conference. Read the statement at: www.consensus.nih.gov.

Books
Cushing's Syndrome, Edited by Lewis S. Blevins, Jr. MD of Vanderbilt University School of Medicine, Kluwer Academic Publishers, 2002, ISBN 1-4020-7131-0. Available through Amazon.com. Approximate price: $165.00. This book on Cushing's is meant for the physician audience. The terminology is very medical, but may be understandable by medically inclined patients.

Cushing's Syndrome - A Patient Guide - One Women's Journey, by Mary Walsh, JD. New Mill Press, 2001, ISBN 0-9715707-0-1. Available through Amazon.com. Approximate price: $10.00. This books provides a detailed look at the author's life throughout her experience with Cushing's. The later portion of the book also contains some general information on Cushing's.

My Battle With Cushing's Disease, by Linda Garnier, Llumina Press, Coral Springs, Florida, 2003, ISBN 1-932560-68-8. Available through Amazon.com. Approximate price: $10.00. This book provides a detailed look at the every day life of the author from early symptoms through the difficulties associated with getting a diagnosis and finally successful pituitary surgery. Author's web site: www.home.earthlink.net/~legarnier/

Coping with Prednisone (And Other Cortisone-Related Medicines): It May Work Miracles, but How Do You Handle the Side Effects, by Eugenia Zukerman, Julie R. Ingelfinger, MD, St. Martin's Griffin, ISBN 0-312-19570-2. Available through Amazon.com. Approximate price: $11.00. This book is written specifically for patients who must take steroid medications to control other medical conditions, however Cushing's patients have also found it useful. The book deals with weight, depression and other side effects of steroid medications.

The Official Patient's Source Book on Cushing's Syndrome, Edited by Parker and Parker,ICON Health Publications, 2002, ISBN 0-597-83382-6. Available through Amazon.com. Approximate price: $19.00. This book is geared to finding information on the internet, searching the NIH databases for information on Cushing's, clinical trials, alternative medicine, etc. It also contains sections on insurance and finding medical libraries. The book lists a large number of web sites containing very general information and some that are specific to Cushing's. If you are not familiar with finding information on the internet, this book could be useful.