From February 2, 2005

MaryO: Tonight we welcome Sam and her mom, Jackie, who will answer questions for us.

Sam was born with Cyclical Cushing's Syndrome on March 22nd 1999 and is thought to be perhaps the ONLY child in medical literature born with Cyclical Cushing's Syndrome.

The Discovery Health Channel aired Sam's show, Mystery Diagnosis, Mon. Nov. 15, 2004 with several repeat performances. This show was the first in a series called Diseases Doctors Miss. Every year, millions of Americans fall prey to ailments that go undiagnosed or misdiagnosed. Medical professionals struggle to understand their baffling conditions.

Sam's story was also presented by Dr. Stratakis in Grand Rounds at Seattle Children's Hospital November 18, 2004.

The NIH (National Institutes of Health) made a poster of Sam's rare case in Adobe PDF format. If you don't have that, you'll be prompted to add the Adobe program to your computer to view this file. You can view Sam's NIH poster here.

It's a truly amazing story about what one determined Mom (Ding Dang, Jackie!) can do for her child!

Is Sam there?

Jackie and Sam: LOL. She is right here.

MaryO: Sam, do you know that we all think you're one special kid for going through all this and letting them put your story on TV? You know that you have probably saved many other families from going through what you and your parents went through? In a past chat, someone said that you were their hero - and that stands true today.

How are you feeling now?

Jackie and Sam: Good (I'm quoting her here) but I'd like to be a farmer more.

MaryO: Sam, do your friends at school treat you any differently since you've been on TV?

Jackie and Sam: I know that Sam has no idea the impact she has made on so many people.

Sam: "Austin Petz said I was cool and he saw my lost cat sign".

MaryO: But don't the kids at school know?

Jackie and Sam: Apparently Austin Petz does... LOL

MaryO: Who is he? And do we care? LOL

Jackie and Sam: Not at all LOL

JaneJ: How old are you and what grade in school?

Jackie and Sam: Sam is only 5. She will be 6 in March. Kindergarten.

NancyCall: Is depression a HUGE side effect of this disease?

Jackie and Sam: Yes, it sure can be in adults....Mary?

MaryO: I don't know if it was for Sam because she was so young, but for most of us - ABSOLUTELY! Especially when no one understands and no one believes you.

Jackie and Sam: Sam was more anxious than depressed and OCD.

AnneNorth: I don't know much about cyclical Cushing's. Can you explain a little bit about the symptoms etc?

Jackie and Sam: Sam was born with Cushing's (actually in a Cushing's cycle). She had a moon face, high BP, sores all over her little bod that wouldn't heal...hairy face, back etc

MaryO: How long were her cycles on average? Or were they all different?

Jackie and Sam: They all lasted about 5 weeks. Nearly to the day. the duration between cycles varied. She didn't have her first episode (after her episode at birth) until she was 20 months then I think it went 9 months then 6 then 3 then she was going in and out every couple of weeks at the end.

MaryO: Scary stuff! I know that made it so hard to diagnose. Especially suggesting that YOU were the cause. That must have made you so angry and frustrated!

SuseWil: Jackie - I read Sam's story and was amazed at what a journey it was to get diagnosed. What advice do you have regarding how to handle a doctor that won't run enough tests or doesn't think you have an illness you feel should at least be explored? Especially when you don't have ALL the symptoms (like purple stretch marks - mine are pale pink) and are thus dismissed by the doc?

Jackie and Sam: It was very frustrating, and like a horrible nightmare all the time. I couldn't for the life of me figure it out by myself

My relationship with Doctors is a bit twisted, I'm afraid. But the one thing I have learned through ALL of this IS: there is no reason to stay with a Doc that won't run the tests that you want (within reason) especially if you are relatively well informed of what testing you think you need.

They don't care if you leave them and go see someone else. They get a little testy if the new Doc makes a DX... but typically if you leave a Doc you'll never hear from them again. That is just my experience.

SuseWil: I have providers admonish me to 'get off the internet' and stop freaking myself out. I'm not freaked out...I'm frustrated and tired.

MaryO: Suse, unfortunately most of us get that and we have to fight for every test and diagnosis.

Jackie and Sam: And it IS a fight. I admire anyone that has to fight this battle and are sick.

MaryO: AMEN to that!

NancyCall: What can happen if not diagnosed and treated correctly?

Jackie and Sam: With Sam, her condition was declining rapidly. She had advanced bone age, vision loss, bone loss, high BP, hypoglycemia, lots of acne, facial hair. She was literally dying before my very eyes. Sam's docs told me that Sam's disease could have been fatal without surgery.

Every case is different. But I believe the only cure for Cushing's is surgery, providing it's not Cushing's caused by steroid use.

MaryO: How difficult this must have been, Jackie :( Thank goodness you were there for her.

AnneNorth: Do you think that there is something that triggers an episode?

Jackie and Sam: I always wondered that! I still do... We did allergy testing to see if it was something environmental, we had kidney function testing, I used different laundry soap...I stopped feeding her wheat... Yet no cause for her cycles was ever found.

We traveled to Scottsdale to see a neurologist and Endo and a Nephrologist. I was covering every base I could think of.

MaryO: Wouldn't it seem if she was born during a cycle that it probably wasn't environmental?

Jackie and Sam: Absolutely!! This is what I kept telling everyone!

DoreenG: Amazing that you put it all together when the times were so varied. Great job. Bow wow!

Jackie and Sam: LOL. Doreen. I didn't put it together until I posted on this board on December 02, 2002. Then it was all put together FOR me. By everyone here.

MaryO: That's so good to hear - I'm glad we could help you out! :)

Canasa: I just sat in ER today. I have not been able to sleep, doing Xanax, nothing is working, (thought these jitters, lightheadedness, and general fatigue MIGHT be caused by anxiety). Anyhow, my question is, how the heck do you get these doctors to listen to you. I know you and Sam had an awful fight too!

It is like they took out my left adrenal in Oct, then I had a left thyroid removed 3 weeks ago, and I feel horrible. My endo released me and now I am suppose to call him back to set up another appointment. I have been suffering from extreme fatigue, muscle weakness, like that of an 80 year old lady.

Do I just stand firm and tell them to figure it out? What can I do to get them to pay attention? Time for a new endo? I am starting to get angry! I can't help it.

Jackie and Sam: I always advocate changing doctors. One thing about docs is they LOVE to show each other up. It's that big fat ego thing.

The ones I have dealt with just think it is fabulous that well known docs all over the country couldn't/ didn't diagnose Sam. And they could. But I had to badger each and every one to near death to get them to.

Canasa: Okay, thanks. WILL do. Thanks... I will see another endo. Sounds about like my last 20 months and I thought my present endo was going to be good, but now after surgery, I am afraid his post op care is something to be desired... THANKS muchly you two! :) Jackie and SAM! (waves at Sam)

MaryO: Jackie, how many different doctors do you think you saw? (I think we all need a patient advocate like you!)

Jackie and Sam: By the time Sam was 20 months she had had 4 different PCPs. She has seen 6 nephrologists and 4 endocrinologists... not to mention 2 neurologists and a naturopath.

They absolutely cannot stand to see me coming at Sam's current hospital and the insurance company hates me. LOL.

MaryO: Amazing!

SuziQ: Jackie, how are Sam's bones and vision now? A lot of improvement or some improvement?

Jackie and Sam: Sadly Sue, I got bad news from NIH just this week that Sam's bone density had not improved at ALL since surgery. These are her October records that just arrived here.

SuziQ: Do they have an explanation?

Jackie and Sam: The good news is her vision IS improving. A LOT.

SuziQ: Mine improved is why I asked. That's good.

Jackie and Sam: They say that "it'll take time..." They say she has grown so very tall her bones will bulk up later.

SuziQ: They will continue to monitor her bones then?

Jackie and Sam: It's all just theories though. No one seems to know. She take calcium and Vitamin D.

Yes, she will have an annual Dexscan and a bone age every 4 months or so.

SuziQ: I will pray for improvements for Sam... Thank You, Jackie.

MaryO: Is she a normal tall for her age? They don't think that there's anything else going on, do they?

Jackie and Sam: She is 90% for height and 12% for weight. Exactly the opposite of what she was when she went in for surgery.

MaryO: Sounds like improvements!

Jackie and Sam: So she IS tall. As I have told you before Sam has 2 nodules on her thyroid NIH is monitoring currently.

LynneC: Sue sort of asked my question already. How has her recovery gone without adrenals? Does she have any resulting medical problems? Do you worry a lot?

Jackie and Sam: The funny thing is Lynne, I was out of my mind at first. Honestly, I still stand on the sidewalk and scream when she tries to ride the bike and I go to recess everyday. But Sam has never been healthier in her life (I'm touching wood here). She doesn't even get the colds her sisters do.

Her PCP said today (both sisters are knocked OUT with a cold, sore throat, etc) Boy, Sam's healthy as a horse, isn't she?

And she truly is. She had this cold first and passed it on. She has been very well.

AnneNorth: Where was Sam's tumor? Adrenal glands? Did she have surgery to remove both? At what age?

Jackie and Sam: She had microscopic tumors on both glands. They were removed 2 weeks after her 4th birthday in April of 2003.

And yes. both glands had to be removed.

AnneNorth: Is she on Prednisone now? if so what dose? And any side effects?

Jackie and Sam: She takes hydrocortisone 5mg 2X a day and Florinef 100 mcg.

No side effects thus far... but she is very very thin. And she tires a bit more easily than her friends, Other than that, so far so good.

That was fun. Thanks for having us. Sam has been staring at me like I'm a madwoman. She said "can they really hear me too?"

Canasa: I am working with a holistic doc, and I know I could convince my endo's nurse that I needed to get in tomorrow to see him, but I don't know what he will do for me..

BUT I will call and give him one last chance and if I get no answers I am off to another endo.

Jackie and Sam: Our naturopath was the one that came up with 'adrenal fatigue' first.

MaryO: will the show rerun on TV again, Jackie?

Jackie and Sam: Mary, True Entertainment (the producers) wrote me an e-mail just today. Mystery Diagnosis has been picked up for 6 more episodes...The producer asked if she could contact me in the next few weeks for help with the next 6 episodes. I have no idea what she means.

MaryO: Fantastic! Maybe you'll get a new career out of this! if she wants more Cushies, you know where to find about 2,500 of us LOL

Thanks again, Jackie and Sam for this chat - and for all that you've done to raise Cushing's awareness.


Listen to Jackie's interview on BlogTalkRadio

Jackie (samsmom) & Jordan: Cushing's in young people, the fight to diagnose, the amazing gift of a GOOD endocrinologist. Jackie has appeared on Discovery Health discussing her fight for a cure for her younger daughter, as well. Later, the gene responsible for Sam's illness was found. Her father carried the gene as did her two sisters. Jordan, Jackie's oldest daughter, has recently had her adrenals removed.

 

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