Guest Post: The Other Side of Cushing's -- The Caregivers

by Judy Kennedy

I have an (almost) ex husband & two children who all suffered from Cushing’s Disease. While they all had had symptoms for years, Justin was the first to exhibit signs of a true medical problem. Actually, it’s only with hindsight that I know the kids had had symptoms since birth & that Bill’s symptoms had been a constant presence in our lives.

I think I’d been looking for answers for Justin’s medical problems for about a year & a half and was convinced he had Cushing’s when I started noticing Jess exhibiting some of the same symptoms. The kids were partway through their testing before it occurred to Bill that he probably had the same thing.

I was immediately convinced it must be genetic although I was originally told there was no genetic link with Cushing’s. Since then, I know of several other families that have multiple members either diagnosed with or testing for Cushing’s. There is also research studying a genetic connection. In fact, my family is participating in a study.

It’s possible that I have a much different perspective since I’m on the outside looking in when it comes to this disease. I have no idea what it’s like to have Cushing’s but I know very well what it’s like to live with Cushing’s. It’s hell. I’m not trying to discount how a Cushing’s patient feels, I’m just trying to show the other side. So if it sounds like I’m making this all about me, I am. But keep in mind that I am very sympathetic to my family & all Cushies. I just happen to be talking from my point of view.

Many Cushies had children before they knew they had the disease. What I don’t understand are the ones who are so intent on having a child after they know they have Cushing’s. I understand the desire to have a natural child but at the same time I’m not sure I would want to risk passing on this disease. I’m guessing that not all cases are genetic but would I want to take that chance?

Many of you reading this know firsthand what it’s like to have Cushing’s. Would you wish that on your future children? Can you even imagine what it’s like from a mother’s perspective? It’s always worse to watch your children be sick than to be sick yourself. If it would have been possible I truly would have traded the disease for myself and given my kids their health. But I don’t have that power.

Know that the disease affects everyone differently but I did notice a lot of similarities in my family. Maybe that part is genetic also. Other families may have different experiences. I notice that I’m using a lot of disclaimers!!

Imagine what it’s like to have suicidal children, one much more so than the other. I went through months where upon leaving the house in the morning I had no idea if I would ever see my son alive again. It’s not good to hear your fourteen-year-old daughter that can barely drive, talk about thinking of taking the car & leaving in the middle of the night. It’s heartbreaking to find your seventeen year old son curled up under his desk sleeping some mornings, pillows piled in front of him. Was he keeping himself in or something out? It torments the mind to wonder what his thoughts were that lead him to that.

How awful of a mother am I that just seeing my son’s number on caller ID would make my blood run cold (that isn’t just an expression) and dread fill my heart? I hated that I reacted like that but for a few years it seemed he only called when he had problems, medical or otherwise. I learned to cope one crisis at a time and tried to think ahead to what else could go wrong.

Watching a child’s personality change within seconds was very unnerving. One minute things seemed fine and the next it was as if I could feel the anger & hate just radiating from their body. I tried to be an invisible person in the house. I was always the target for everyone’s anger. Even knowing it was part of the disease it got really old. I felt like a stranger in my family. Although I felt like I was doing all I could to get answers for them I sometimes felt like they held me responsible for their problems. It was my fault they had to test.

Even now after they all have a cure (a very relative term) things aren’t easy.

I also notice that there are Cushies who have some Cushie looking children & they don’t seem to notice. I sometimes wonder if they just aren’t ready to deal with it yet or if they really don’t notice.

I’m hoping I didn’t offend anyone. This was just some observations from a mother’s point of view. I’ve been telling my kids for years that I could easily love adopted grandchildren. While it’s not my decision I hope they take it seriously.

Germline mutations in AIP have been recently shown to cause pituitary adenoma predisposition (PAP)...

Many of the members of the Cushing's Help message boards have relatives and/or siblings who have also been diagnosed with a pituitary tumor and Cushing's Disease. Conservative, "textbook" cases of Cushing's have long been touted as nonheritable by the conservative, textbook endocrinologists. However, new research is reaching different conclusions.

In a very recent article published by the Journal of Clinical Endocrinology & Metabolism, Large Genomic Deletions in AIP in Pituitary Adenoma Predisposition , the authors make a case for large genomic AIP deletions accounting for a subset of pituitary adenoma predisposition (PAP). They state "functional evidence suggest that AIP acts as a tumor suppressor gene." The free author's manuscript is linked, but a more up-to-date version may be found in October's edition of the journal.

The study included multiple family lines from various countries, with the "selection criterion for young age of onset aimed at enriching for possible PAP cases." The authors make the claim that "[t]ypically, PAP patients have a young age at disease onset, without a strong family history of pituitary adenomas."

The patients had already been tested for MEN1, PRKAR1A and other germline mutations also responsible for Cushing's and/or adrenal abnormalities.

Eleven families were heterogeneous (different types of adenomas), and 12 were homogeneous (same type of adenoma), including seven with acromegaly/gigantism, four with nonfunctioning adenomas, and one with prolactinomas (Table 1). In addition, 39 sporadic Finnish GH-secreting adenoma cases aged 40 yr or less at diagnosis and 35 sporadic Italian pediatric pituitary adenoma patients were analyzed.

Multiplex ligation-dependent probe amplification (MLPA) was used to identify these genomic rearrangements and proved to be a very beneficial tool to search for germline copy number changes in AIP.

This type of study may lead to better clinical evaluation, treatment, and calculation of the chance of relapse. The authors go on to say "...it would be of great interest to compare the disease spectrum and penetrance in families with truncating and nontruncating AIP mutations; clearly, much larger patient series and detailed medical investigations would be needed for this."

M. Georgitsi, E. Heliovaara, R. Paschke, A. V. K. Kumar, M. Tischkowitz, O. Vierimaa, P. Salmela, T. Sane, E. De Menis, S. Cannavo, S. Gundogdu, A. Lucassen, L. Izatt, S. Aylwin, G. Bano, S. Hodgson, C. A. Koch, A. Karhu, L. A. Aaltonen (2008). Large Genomic Deletions in AIP in Pituitary Adenoma Predisposition Journal of Clinical Endocrinology & Metabolism, 93 (10), 4146-4151 DOI: 10.1210/jc.2008-1003