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Diagnosis of rare disease brings area woman hope


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  • Chief Cushie

From http://www.observertoday.com/page/content..../id/519546.html




Like countless others I have had an ongoing struggle with being overweight my entire life. So, it was no great surprise at age 44 that I decided to attempt losing weight once again.


This time was different. I joined Weight Watchers in September 2004. Aside from obesity I still had relatively good health. I didn't want to jeopardize that. In less than two years I lost 100 pounds. I felt wonderful exercising at least three times a week. I still wanted to lose 25 to 50 pounds more but that wasn't to happen. I maintained the weight loss until November of 2006. Gradually, I started putting weight on with no apparent cause. I wasn't eating any differently and continued to exercise. By February 2007 I had put on 40 pounds. It was then that I began to notice heaviness in my legs when I climbed stairs and walked at even the slightest incline. This muscle weakness progressed to the point of having difficulty standing from a seated position. The weakness increased and the weight piled on, despite healthy eating and exercise habits. My body was betraying me.


Other "symptoms" were increasingly more noticeable. Facial hair growth that started as an annoyance in about 2000 took on a life of its own demanding that I shave my face daily. This abnormal hair growth also covered my back. I was plagued with adult acne, menstrual irregularities and constant fatigue. By August 2007 I had put on about 80 lbs. My doctor ordered all sorts of blood and diagnostic tests zeroing in on the specific symptoms and ongoing complaints. Never once did he ignore my lament. Every test result would confirm my "good health". Why then did I feel so horrible?


By December of 2007 I was about to throw in the towel telling my doctor that perhaps it's all just my age. I must be pre-menopausal. I guess I just have to deal with it. He disagreed. My test results did not indicate such hormonal changes. I will never forget his words: "You know your body and you know that something isn't right. We are going to keep looking until we find out what it is". He then suggested "we" check for Cushing's Disease. A very specific blood test, a Dexamethasone Suppression test was ordered. This was the test that was to give me my life back thanks to Dr. Anthony Bartholomew of Fredonia.


The very high levels of cortisol in my body suggested Cushing's Disease, but the cause was yet to be determined. (Cushing's Disease is usually caused by a pituitary tumor, whereas Cushing's Syndrome is caused by an adrenal tumor. Not all pituitary tumors cause Cushing's Disease, either). In the meantime I developed hypertension. Finally, in May of 2008 I had an appointment with an endocrinologist, Dr. Howard Lippes in Williamsville. Given the rarity of the disease and the fact that I didn't "look" like the typical Cushing's patient, Dr. Lippes was convinced a mistake had been made and ordered several more diagnostic tests, some repeats of what was already done. Lo and behold, it wasn't a mistake. I had Cushing's Disease most likely caused by a pituitary tumor. In June I had a brain MRI which detected a pituitary micro-adenoma about 8mm in size. There is no treatment other than surgery. The tumor which secretes ACTH, the hormone that signals your adrenal glands to produce cortisol, must be removed as the condition is ultimately life-threatening often causing diabetes and cardiovascular disease. Cortisol occurs naturally in your system, but too much wreaks havoc on your body.


In July I was referred to Dr. Robert Fenstermaker and Dr. Nestor Rigual both of Roswell Park Cancer Institute in Buffalo. Pituitary tumors of this type aren't typically cancerous, but these surgeons specialized in this particular kind of surgery.


On Aug. 1, 2008, I had endonasal transphenoidal surgery to remove the tumor. Quite simply, they went through my nose! It is still considered neurosurgery given the pituitary gland's proximity to the brain. This delicate surgery was a success!! The entire tumor was gone. I was immediately placed on hydrocortisone. Yes, more steroids!! This was necessary until my adrenal glands functioned normally again. I was gradually weaned off the hydrocortisone taking my last dose on Christmas Eve 2008.


Fast forward to Jan. 19, my most recent visit to my endocrinologist. Normal cortisol levels are evidence that my adrenal glands are working properly. I'm officially cured of Cushing's Disease!! However, the recovery period hasn't been easy which isn't unusual. I've been told that it could take six months to a year to feel good again. Only recently am I seeing improvements. I am happy to report that I can honestly say I feel better and mean it. The hair on my back is gone and minuscule on my face. I'm starting to lose weight again and my muscles are getting stronger thanks to the physical therapy program I follow provided by Dr. David Root of Dunkirk. I can now stand up without preparing for the event!


My reason for writing this article is not to thank my wonderful doctors though I will always be eternally grateful. I just wanted to share my experience thereby spreading information about this sneaky, nasty, so-called rare disease. I think my doctors would agree that it really isn't all that rare. It's just under or misdiagnosed given the myriad of symptoms.


Does this sound like you or someone you know? Don't give up. If you are not as fortunate as I to have a doctor who listened, keep changing until you find someone who does.


Joselle Syracuse is a Fredonia resident who teaches in Jamestown.


Read Joselle's bio on the Cushing's Help website


Listen to Joselles live Cushing's Help Interview

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