I want to share the story of my Dad and myself because this “rare” disease knocked on our family’s door not only once, but twice. I also want people to know that you have to be your own health advocate. You know your body and when something is not right with it!
Our story began about 11 years ago. My Dad was around 50 years old and he was a very sick man, but we didn’t know with what. He was wasting away physically and emotionally right in front of our eyes. His arms and legs had become so small compared to how big his abdomen and face were. Because the disease was eating away his muscles, he would often trip and fall. His skin was so thin that his arms and legs looked like that of an elderly man with huge bruises and he would bleed so easily. His face was moon shaped, his belly was large and he had the “buffalo” hump on the back of his neck. Worst of all, Dad knew something was very wrong and he became very depressed. After many misdiagnoses, Dad was put in the hospital for a week. They did a battery of tests on him, and he was finally diagnosed with Cushing’s Disease. We had never heard of this disease before, but we were learning fast and at least now, we had a name for the monster that was eating away at our Dad. Over the course of 4 years my Dad underwent 3 trans- sphenoidal surgeries, one of which was to completely remove his pituitary. Then he had gamma knife radiation to destroy residual cells around where the pituitary had been. He also had a bilateral adrenalectomy, and he’s had two septoplasty surgeries to repair the damage to his nose caused by the multiple transsphenoidal surgery’s. Needless to say, the monster that lived inside dad was an aggressive one.
After Dad’s second TSS at a small university hospital (and he was still a very sick man), they wanted to go in again for another TSS. At this point, we were beginning to feel as if Dad was their “science project”. We weren’t for sure if they had ever even treated someone with Cushing’s Disease before. My Mom, my sister, and I decided a family meeting was in order. We had to get more informed about this disease and get Dad to doctors who specialized in it. We wanted Dad to have the very best of care. We did a lot of research on-line about Cushing’s. After a lot of reading and recommendations, we found the Pituitary Clinic at The University of Virginia in Charlottesville, Virginia. Mom sent an e-mail to them on a Sunday night and we heard from them the very next morning. Even though it was a 12 hour drive…it didn’t matter. As I mentioned before, it’s been about 11 years since Dad was diagnosed, he is 63 now and he will be on replacement hormones for the rest of his life. Dad has his days, but considering ALL that he has been through, he’s doing remarkably well.
At this writing, I myself am 10 months post-op transsphenoidal surgery. As I too was diagnosed with Cushing’s Disease last year. I hate that my Dad was so sick and h￼ad to go through everything he did, but because he did, our family was very educated about this rare disease and the signs and symptoms of it. Over the past 5 to 6 years, I knew things were going awry in my body. Things like the hair on my head coming out in handfuls and developing a lot of un-wanted hair on my face. A feeling of jittery-ness and not wanting to be around people. Insomnia. My periods were horrible with heavy bleeding and clotting. I could not keep my blood sugar regulated. My blood pressure had always been low, but the bottom number kept creeping up and up. Weight gain…lots of weight gain. Mood swings. Weak muscles. My face was moon shaped and often red. I had a “hump” on the back of my neck……I had asked my doctors about the possibility of Cushing’s disease since my Dad had it and we were knowledgeable about the symptoms. I was told over and over…”That’s a very rare disease.”, “It is not an inherited disease.”, “We don’t test for that.”, “Lose weight!”, “Lose weight!”, “Lose weight!”…. I was diagnosed with PCOS and was told that is why I was having trouble with my blood sugar, periods and weight gain. It was SO VERY frustrating, but that’s why I say you have to be your own advocate (and a pushy Mom helps too!). I asked my doctor to refer me to an endo as I was not getting any better, only worse, after the treatment protocol for PCOS. I was referred to the endo at the small university hospital where my dad was first diagnosed. The doctor was SO skeptical about me having Cushing’s, but agreed to do some testing….and again I heard “It’s not inherited”. When my husband and I left his office that day, I was feeling like…maybe I’m just crazy, this is just all in my head. But to the doctor’s surprise, all of my cortisol test results kept coming back high. Down deep, I was pretty sure I had Cushing’s all along, but when those tests started coming back high and confirming it….I was panicked and very, very scared for the first time. All I could think was…I don’t want to go through everything my Dad had to. I felt it was important to go to Virginia where Dad was treated because of the knowledge and experience they had there.
My Dad and I have both been treated by Dr. Mary Lee Vance, endocrinologist. Per Dr. Vance’s words, my Dad was one of the sickest patients she has ever seen with Cushing’s. Dr. Edward Oldfield was my neurosurgeon and my Dad’s was Dr. Edward Laws who has since moved his practice to Boston. We feel like we are in the best of hands. Dr. Vance and Dr. Oldfield were very interested in working with me since in all of their years in practice and research, they had never had a parent/child diagnosis of Cushing’s disease. Aren’t we special!!!
My surgery was November 30th, 2010. Thank goodness for my husband. He has taken the best care of me. He makes my recovery seem as if it’s no burden to him, even though it’s not always a walk in the park. After about 6 months post-op my pituitary started to “work” again and I was able to fully wean off of hydro. I did have some withdrawals….I wanted to cry for a few weeks as I was sooooo achy. It hurt to move ANY muscle. But Dr.Vance explained all this to me before hand, so I was ready and expecting it. I am feeling much better now. My internal systems seem like they are running smoothly, a big difference than the last few years. I have lost some weight!! I do still have some achy joints, but once I’m up and moving, it gets better. All of the extra cortisol in my body for all those years I was sick was masking a disk problem in my back. I’m hoping that it gets better soon. I really feel like that’s the only thing keeping me from feeling like a new person! I know that recovery is a long road and I still have a ways to go, but my faith, my family and knowing that I’m going to continue to get better is what keeps me going!
My prayer now is that my path will be much different than my Dad’s. His was so aggressive and he was so sick for such a long time before he was diagnosed and received the proper care. Dad has been so good to help me go through this. He’s told me ahead of time some things I needed to hear so I could be prepared and then there were things he didn’t mention until after I’d gone through them, because they weren’t going to be pleasant and he knew I would have to just experience them. As I mentioned earlier, I tell him often that I’m so sorry he had to go through all that he did, but because he did, I was diagnosed and treated before being as sick as he was…..Dad always says…”I hated being so sick too, but I’m thankful that because of it, you were able to be helped!”
Love you Dad!
Newsletter: Winter, 2011