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HopeRising

New Mystery Diagnosis Episode

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http://health.discovery.com/tv-schedules/s....120601.29206.x

 

"Samantha Edgar has unexplained periods of pain, weight gain, acne, and high blood pressure."

 

It was on Discovery Health tonight at 10pm, it'll be on again at 1am, then again September 27th at 2pm and September 28th at 2am. It's also the later part of the show, so about 1/2 way through.

 

SPOILERS:

 

The child's mother sounds like so many of us, after seeing endo after endo after endo. Being told to restrict diet for her child, even being accused of having Munchhousins (sp?) By Proxy! Finally a Pediatric Endo decides to check for cortisol, even though the syndrome is so "rare". A 24 hour UFC shows a level of 3000! However, he also says the child is "cyclic" cushings because she goes through stages just like many of us. She's normal for a while, and then starts eating like mad and puffing up like a balloon, her eye brows grow together, she complains of aches and pains everywhere, etc.

 

There's no mention of a brain tumor (or even looking for one), in fact they find nodules all over her adrenals and do a BLA. She's perfectly fine now, but I'm wondering if they missed the bigger issue (a pituitary tumor)?

 

Anyway, the episode is totally worth a see! It was the shot in the arm I needed after one very disappointing day.

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Jackie, Sam's mom is a regular on these boards. I am sure she will pop in to say hi. She will tell you that Sam is doing great-no pit issues and is a normal fun kid. I am so glad that Jackie and Sam were willing to tell their story because it really helped put cushing's on the map and helped many people seek a diagnosis.

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Jackie and Sam's episode (this one) was the pilot episode for this series.

 

Jackie and another of her daughters did a live interview here on Cushing's Help, too, May 15, 2008:

 

Click to Listen

 

Subscribe on iTunes

Jackie (samsmom) & Jordan)

 

Jackie (samsmom) & Jordan: Cushing's in young people, the fight to diagnose, the amazing gift of a GOOD endocrinologist. Jackie has appeared on the Discovery Health tv show pilot, Mystery Diagnosis, discussing her fight for a cure for her younger daughter, as well.

 

Later at the NIH, the gene (PDE11A) responsible for Sam's illness was found. Her father carried the gene as did her two sisters.

 

Sam's doctor at NIH, Dr Stratakis has written several papers on Sam's case including one that was published in April, 2008. For more on PDE11A or iMad, please see A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex. Jordan, Jackie's oldest daughter, has recently had her adrenals removed. She had one removed laparoscopically and the other was an open adrenalectomy. She participated in this chat as well.

 

Read Jackie's bio at http://www.cushings-help.com/jackie2.htm

 

Keywords: adrenal, atrophy, bilateral adrenalectomy, BLA, blood, bruising, CT scan, cyclical, Discovery Health TV, Diseases Doctors Miss, Dr. Constantin Stratakis, endocrinologist, epidural, gene, gene mutation, hereditary, hyperplasia, iMAD, laparoscopic, Liddle Test, Munchausen's, Mystery Diagnosis, NIH, Parkinson's, PDE11A, Stanford, stress, surgery, tired tumor, ufc, weight

 

~~~~~~~~~~~~~~~~~~~~~~~~

This is a PDF file:

Download Cyclical Cushing's Young Sam's clinical results. She was born with cyclical adrenal Cushing's.

 

~~~~~~~~~~~~~~~~~~~~~~~~

 

Jackie's bio tells a lot more of Sam's story. Read that here: http://www.cushings-help.com/jackie2.htm

 

 

 

 

 

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Sams show has still not been on over here..& Lord have I seen some watching out for it .I'd really like to see it. & Kates too..although I did watch Kates on the site link.

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Jackie, Sam's mom is a regular on these boards. I am sure she will pop in to say hi. She will tell you that Sam is doing great-no pit issues and is a normal fun kid. I am so glad that Jackie and Sam were willing to tell their story because it really helped put cushing's on the map and helped many people seek a diagnosis.

 

Oh cool! I wondered about that...

 

So, hi Jackie! Thanks for doing the show! It was another great encouragement for me. :(

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Oh cool! I wondered about that...

 

So, hi Jackie! Thanks for doing the show! It was another great encouragement for me. :(

 

EDITED TO ADD:

I just read your bio, and the show doesn't even do your journey justice. You are one tough woman. I really hope your daughter, Jordan, is Cushings free.

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Hi,

 

They sure did get some mileage out of that show, didn't they? Glad you saw it and it lifted your spirits. It's become a bit difficult fo me to watch - so I'll be sure to avoid the channel for a few weeks.

 

In regard to Sam; she is well... besides having to take replacement steroids for life and the caution that must come with that. In regard to her diagnosis... she had a low ACTH value and a clear pituitary MRI; this indicated an adrenal source. High ACTH would have indicated pituitary disease. The bilateral adrenalectomy is about as big a picture as Cushing's diagnosis go.

 

Jackie

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Just chiming in here---I happened to see Mystery Diagnosis (Sharm's story) and realized that I may be suffering from Cushings. Later on, I saw Sam's story---and I realized that Cushings is not only not so rare---but that it could hit at any age.

Thank goodness to all involved for sharing their experiences---and helping raise awareness and hope---for the rest of us.

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